abnormality of mandible symphysis HP:3000079 Abnormality of mandibular symphysis HP:3000079 Abnormality of mandible coronoid process HP:3000078 Abnormality of mandible condylar process HP:3000077 Abnormality of lingual tonsil HP:3000076 Abnormality of lingual nerve HP:3000075 Abnormality of lingual artery HP:3000074 Abnormality of levator veli palatini muscle HP:3000073 Abnormality of levator palpebrae superioris HP:3000072 Abnormality of levator labii superioris HP:3000071 Abnormality of levator anguli oris HP:3000070 Abnormality of lateral rectus extra-ocular muscle HP:3000069 Abnormality of lateral pterygoid muscle HP:3000068 abnormality of lateral cricoarytenoid muscle HP:3000067 Abnormality of lateral crico-arytenoid HP:3000067 Abnormality of lacrimal sac HP:3000066 Abnormality of lacrimal artery HP:3000065 Abnormality of intrinsic muscle of tongue HP:3000064 Abnormality of internal jugular vein HP:3000063 Abnormality of internal carotid artery HP:3000062 abnormality of the infraorbital nerve HP:3000061 Abnormality of infra-orbital nerve HP:3000061 Abnormality of infraorbital artery HP:3000060 Abnormality of inferior thyroid vein HP:3000059 Abnormality of inferior rectus extraocular muscle HP:3000058 abnormality of the inferior oblique muscle HP:3000057 Abnormality of inferior oblique extraocular muscle HP:3000057 abnormality of the inferior labial artery HP:3000056 Abnormality of artery of lower lip HP:3000056 Abnormality of inferior alveolar nerve HP:3000055 Abnormality of inferior alveolar artery HP:3000054 Abnormality of hypopharynx HP:3000053 Abnormality of hyoid bone HP:3000052 Abnormality of hyoglossus muscle HP:3000051 abnormality of tooth hard tissue HP:3000050 Abnormality of odontoid tissue HP:3000050 Abnormality of hard tissues of teeth HP:3000050 Abnormality of greater palatine artery HP:3000049 Abnormality of great auricular nerve HP:3000048 Abnormality of glossopharyngeal nerve HP:3000047 Abnormality of geniohyoid muscle HP:3000046 Abnormality of genioglossus muscle HP:3000045 Abnormality of frontal process of maxilla HP:3000044 Abnormality of facial vein HP:3000043 Abnormality of jugular vein HP:3000042 Abnormality of external carotid artery HP:3000041 Abnormality of ethmoidal air cells HP:3000040 Abnormality of ethmoid sinus HP:3000040 Abnormality of dorsal nasal artery HP:3000039 Abnormality of cricoid cartilage HP:3000038 abnormality of blood vessel of neck HP:3000037 Abnormality of the vasculature of the neck HP:3000037 Abnormality of the cervical vasculature HP:3000037 Abnormality of the cervical blood vessels HP:3000037 Abnormality of neck blood vessel HP:3000037 abnormality of blood vessel of head HP:3000036 Abnormality of vasculature of head HP:3000036 Abnormality of head blood vessel HP:3000036 Abnormality of cervical plexus HP:3000035 Abnormality of cartilage of nasal septum HP:3000034 Abnormality of pharyngeal tonsil HP:3000033 Abnormality of nasopharyngeal tonsil HP:3000033 Abnormality of nasopharyngeal adenoids HP:3000033 Abnormality of adenoids HP:3000033 Abnormality of central retinal artery HP:3000032 Abnormality of anterior ethmoidal artery HP:3000031 abnormality of bones of the orbit of the skull HP:3000030 Abnormality of the orbital bones of skull HP:3000030 Abnormality of the bony eye socket HP:3000030 Abnormality of bony orbit of skull HP:3000030 abnormality of depressor labii inferioris muscle HP:3000029 Abnormality of depressor labii inferioris HP:3000029 Abnormality of depressor anguli oris muscle HP:3000028 Abnormality of buccinator muscle HP:3000027 obsolete Abnormality of common carotid artery plus branches HP:3000026 Abnormality of ciliary ganglion HP:3000025 Abnormality of facial artery HP:3000024 Abnormality of angular artery HP:3000023 Abnormality of cartilage of external ear HP:3000022 Abnormality of buccal fat pad HP:3000021 Abnormality of zygomaticus minor muscle HP:3000020 Abnormality of buccal mucosa HP:3000019 Abnormality of zygomaticus major muscle HP:3000018 Abnormality of temporalis muscle HP:3000017 Abnormality of styloglossus muscle HP:3000016 Abnormality of risorius muscle HP:3000015 Abnormality of procerus muscle HP:3000014 abnormality of the platysma muscle HP:3000013 Abnormality of platysma HP:3000013 Abnormality of palatopharyngeus muscle HP:3000012 Abnormality of palatoglossus muscle HP:3000011 Abnormality of orbicularis oris muscle HP:3000010 Abnormality of nasalis muscle HP:3000009 Abnormality of mylohyoid muscle HP:3000008 Abnormality of mentalis muscle HP:3000007 Abnormality of medial pterygoid muscle HP:3000006 Abnormality of masseter muscle HP:3000005 Abnormality of frontalis muscle belly HP:3000004 Abnormality of mandibular ramus HP:3000003 Abnormal inner ear epithelium morphology HP:3000002 obsolete Abnormal heart morphology HP:3000001 Primary palate bone excess HP:0430029 Premaxillary excess HP:0430029 Large primary palate bone HP:0430029 Large premaxilla HP:0430029 Hyperplasia of the primary palate bone HP:0430029 Hyperplasia of the premaxilla HP:0430029 Hyperplasia of the intermaxillary bone HP:0430029 Upper jaw excess HP:0430028 Prominent upper jaw HP:0430028 Maxillary prominence HP:0430028 Maxillary prognathia HP:0430028 Maxillary macrognathia HP:0430028 Maxillary excess HP:0430028 Large upper jaw HP:0430028 Large maxilla HP:0430028 Hyperplasia of the maxilla HP:0430028 Big upper jaw HP:0430028 Big maxilla HP:0430028 Abnormality of the shape of the midface HP:0430026 Bilateral facial palsy HP:0430025 Abnormality of external jugular vein HP:0430024 Abnormality of the maxillary sinus HP:0430023 Abnormality of the maxillary antrum HP:0430023 Abnormality of the antrum of Highmore HP:0430023 Abnormality of the sphenoidal sinus HP:0430022 Abnormality of the sphenoid sinus HP:0430022 Abnormality of the common carotid artery HP:0430021 Epileptic encephalopathy HP:0200134 Lumbosacral meningocele HP:0200133 Mitral stenosis due to calcifications HP:0200129 Calcific mitral valve stenosis HP:0200129 Calcific mitral stenosis HP:0200129 Biventricular hypertrophy HP:0200128 Atrial cardiomyopathy HP:0200127 Amyolid cardiomyopathy HP:0200126 Mitochondrial respiratory chain defects HP:0200125 Hepatitis, chronic, due to cryptosporidium infection HP:0200124 Chronic hepatitis due to cryptospridium infection HP:0200124 Chronic hepatitis HP:0200123 Atypical or prolonged hepatitis HP:0200122 Hepatitis, chronic active HP:0200120 Chronic active hepatitis HP:0200120 Acute hepatitis HP:0200119 Vitamin B12 deficiency caused by intestinal malabsorption HP:0200118 Malabsorption of vitamin B12 (cyanocobalamin) HP:0200118 Malabsorption of Vitamin B12 HP:0200118 Recurrent upper and lower respiratory tract infections HP:0200117 Distal ileal atresia HP:0200116 Metabolic alkalosis HP:0200114 Aphalangy, hands and feet HP:0200113 Aphalangy of hands and feet HP:0200113 Absent stapes head HP:0200111 Respiratory cilia have shortened or absent outer dynein arms HP:0200109 Absent/shortened outer dynein arms HP:0200109 Shortened outer dynein arms HP:0200108 Shortened inner dynein arms HP:0200107 Absent/shortened dynein arms HP:0200106 Absent fifth toenail HP:0200105 Absent nail of fifth finger HP:0200104 Absent fifth fingernail HP:0200104 Sparse to absent eyelashes HP:0200102 Sparse or absent eyelashes HP:0200102 Partial to total absence of eyelashes HP:0200102 Decreased/absent ankle reflexes HP:0200101 Decreased or absent ankle reflexes HP:0200101 obsolete Peripheral retinal pigmentation abnormalities HP:0200099 Pigmentary changes in the peripheral retina HP:0200099 Absent skin pigmentation HP:0200098 Oral mucosal blisters HP:0200097 Oral mucosa blisters HP:0200097 Triangular-shaped open mouth HP:0200096 Anterior open bite HP:0200095 Frontal open bite HP:0200094 Tremor of limbs HP:0200085 Limb tremor HP:0200085 Giant cell hepatitis shown on biopsy HP:0200084 Giant cell hepatitis on liver biopsy HP:0200084 Giant cell hepatitis on biopsy HP:0200084 Giant cell hepatitis HP:0200084 Severe limb shortening HP:0200083 Respiratory insufficiency due to defective ciliary clearance HP:0200073 Quadriplegia, episodic HP:0200072 Episodic quadriplegia HP:0200072 Peripheral vitreoretinal degeneration HP:0200071 Peripheral retinal atrophy HP:0200070 Nonprogressive visual loss HP:0200068 Decreased visual acuity, nonprogressive HP:0200068 Spontaneous abortion, recurrent HP:0200067 Recurrent spontaneous abortion HP:0200067 Ribbonlike corneal degeneration HP:0200066 Chorioretinal degeneration HP:0200065 Asymmetry of iris pigmentation HP:0200064 Colorectal polyps HP:0200063 Colorectal polyposis HP:0200063 Metastatic angiosarcoma HP:0200059 Angiosarcoma HP:0200058 relative afferent pupillary defect HP:0200057 relative afferent pupil defect HP:0200057 Marcus Gunn pupil HP:0200057 Macular scarring HP:0200056 Macular scar HP:0200056 Small hands HP:0200055 Small hand HP:0200055 Disproportionately small hands HP:0200055 Monodactyly (feet) HP:0200054 Hemihypotrophy of lower limb HP:0200053 Asymmetric lower limb shortness HP:0200053 Asymmetric leg shortening HP:0200053 Bracket metacarpal epiphyses HP:0200050 Upper limb hypertonia HP:0200049 Cyanotic episode HP:0200048 Inflammation of cartilage of pinna HP:0200047 Chondritis of pinna HP:0200047 cri de chat-associated cry HP:0200046 cat-like cry HP:0200046 Cat cry HP:0200046 Porokeratosis HP:0200044 Warts HP:0200043 Verrucae HP:0200043 Skin ulcer HP:0200042 Skin erosion HP:0200041 Skin cyst HP:0200040 Epidermoid cysts HP:0200040 Epidermoid cyst HP:0200040 Epidermal inclusion cyst HP:0200040 Skin pustules HP:0200039 Skin pustule HP:0200039 Pustules HP:0200039 Pustule HP:0200039 Pustula HP:0200039 Skin vesicle HP:0200037 Skin nodule HP:0200036 Skin plaque HP:0200035 Skin papules HP:0200034 Papules HP:0200034 Papule HP:0200034 Kayser-Fleischer ring HP:0200032 Fleischer-Struempell ring HP:0200032 Fleischer-Kayser ring HP:0200032 Fleischer's ring HP:0200032 Punctate vasculitis skin lesions HP:0200030 Vasculitis in the skin HP:0200029 Cutaneous vasculitis HP:0200029 Pretibial myxedema HP:0200028 Ocular pain HP:0200026 Mandibular pain HP:0200025 Premature chromatid separation HP:0200024 hulseyism HP:0200023 Priapism HP:0200023 Choroid plexus papilloma HP:0200022 Sloping shoulders HP:0200021 Rounded, sloping shoulders HP:0200021 Rounded shoulders HP:0200021 Down-sloping shoulders HP:0200021 Corneal erosion HP:0200020 Protanomaly HP:0200018 Colorblindness, partial, protan series HP:0200018 White matter agenesis HP:0200017 Cerebral white matter agenesis HP:0200017 Agenesis of the cerebral white matter HP:0200017 Acrokeratosis HP:0200016 Symmetric great toe depigmentation HP:0200015 Neoplasm of fatty tissue HP:0200013 Short corpus callosum HP:0200012 Abnormal length of corpus callosum HP:0200011 Multiple intestinal polyps HP:0200008 Intestinal polyposis HP:0200008 Gastrointestinal polyps HP:0200008 Abnormal size of the palpebral fissures HP:0200007 Slanting of the palpebral fissure HP:0200006 Abnormal shape of the palpebral fissure HP:0200005 Splayed epiphyses HP:0200003 Dysharmonic accelerated bone age HP:0200001 Dysharmonic skeletal maturation HP:0200000 Dysharmonic bone age HP:0200000 Hyperesthesia HP:0100963 Hyperaesthesia HP:0100963 Shyness HP:0100962 Enlarged hippocampus HP:0100961 Asymmetric ventricles HP:0100960 Transverse metaphyseal bands HP:0100959 Dense metaphyseal lines HP:0100959 Dense metaphyseal bands HP:0100959 Narrow foramen obturatorium HP:0100958 Abnormality of the renal medulla HP:0100957 Giant cell granuloma of mandible HP:0100955 Open operculum HP:0100954 Enlarged longitudinal fissure HP:0100953 Enlarged longitudinal cerebral fissure HP:0100953 Enlarged interhemispheric fissure HP:0100953 Enlarged great longitudinal fissure HP:0100953 Enlarged sylvian fissure HP:0100952 Enlarged sylvian cistern HP:0100952 Enlarged lateral sulcus HP:0100952 Enlarged lateral fissure HP:0100952 Enlarged interpeduncular cistern HP:0100951 Enlarged fossa interpeduncularis HP:0100951 Enlarged basal cistern HP:0100951 Long chain 3 hydroxyacyl coA dehydrogenase deficiency HP:0100950 Sclerosis of the distal phalanges of the toes HP:0100948 Sclerosis of distal toe phalanx HP:0100948 Sclerosis of the middle phalanges of the toes HP:0100947 Sclerosis of middle toe phalanx HP:0100947 Sclerosis of the proximal phalanges of the toes HP:0100946 Sclerosis of proximal toe phalanx HP:0100946 Sclerosis of the 1st metatarsal HP:0100945 Sclerosis of the distal phalanx of the hallux HP:0100944 Sclerosis of the proximal phalanx of the hallux HP:0100943 Sclerosis of the distal phalanx of the 5th toe HP:0100942 Sclerosis of the distal phalanx of the 4th toe HP:0100941 Sclerosis of the distal phalanx of the 3rd toe HP:0100940 Sclerosis of the distal phalanx of the 2nd toe HP:0100939 Sclerosis of the middle phalanx of the 5th toe HP:0100938 Sclerosis of the middle phalanx of the 4th toe HP:0100937 Sclerosis of the middle phalanx of the 3rd toe HP:0100936 Sclerosis of the middle phalanx of the 2nd toe HP:0100935 Sclerosis of the proximal phalanx of the 5th toe HP:0100934 Sclerosis of the proximal phalanx of the 4th toe HP:0100933 Sclerosis of the proximal phalanx of the 3rd toe HP:0100932 Sclerosis of the proximal phalanx of the 2nd toe HP:0100931 Sclerosis of the phalanges of the hallux HP:0100930 Sclerosis of hallux phalanx HP:0100930 Sclerosis of the phalanges of the 5th toe HP:0100929 Sclerosis of 5th toe phalanx HP:0100929 Sclerosis of the phalanges of the 4th toe HP:0100928 Sclerosis of 4th toe phalanx HP:0100928 Sclerosis of the phalanges of the 3rd toe HP:0100927 Sclerosis of 3rd toe phalanx HP:0100927 Sclerosis of the phalanges of the 2nd toe HP:0100926 Sclerosis of 2nd toe phalanx HP:0100926 Sclerosis of foot bone HP:0100925 Sclerosis of bones of the feet HP:0100925 Sclerosis of toe phalanx HP:0100924 Sclerosis of the phalanges of the toes HP:0100924 Osteosclerosis of the clavicles HP:0100923 Osteosclerosis of the clavicle HP:0100923 Clavicular sclerosis HP:0100923 Sclerosis of thumb phalanx HP:0100922 Sclerosis of the phalanges of the thumb HP:0100922 Sclerosis of the phalanges of the 5th finger HP:0100921 Sclerosis of 5th finger phalanx HP:0100921 Sclerosis of the phalanges of the 4th finger HP:0100920 Sclerosis of 4th finger phalanx HP:0100920 Prominent xiphisternum HP:0100893 Abnormality of the xiphoid process HP:0100892 Bifid xiphoid process HP:0100891 Bifid xiphisternum HP:0100891 Cyst of the ductus choledochus HP:0100890 Choledochal cyst HP:0100890 Abnormality of the ductus choledochus HP:0100889 Abnormality of the common bile duct HP:0100889 Interdigital loops HP:0100888 Abnormality of globe size HP:0100887 Abnormality of globe location HP:0100886 Vein of servelle HP:0100885 Lateral venous anomaly HP:0100885 Lateral marginal vein of Servelle HP:0100885 Compensatory scoliosis HP:0100884 Chorangioma HP:0100883 Fibrous hamartoma of infancy HP:0100882 Fibrous hamartoma HP:0100882 Congenital mesoblastic nephroma HP:0100881 Nephrogenic rest HP:0100880 Enlarged ovaries HP:0100879 Enlarged uterus HP:0100878 Renal pelvic diverticulum HP:0100877 Renal diverticulum HP:0100877 Pelvic diverticulum HP:0100877 Caliceal diverticulum HP:0100877 Underorbital skin creases HP:0100876 Infraorbital creases HP:0100876 Infraorbital crease HP:0100876 Infra-orbital crease HP:0100876 Hemimacroglossia HP:0100875 increased hair density HP:0100874 increased follicular density HP:0100874 Thick hair HP:0100874 Minor feet anomalies HP:0100872 Abnormality of the plantar skin of foot HP:0100872 Abnormality of the palm HP:0100871 Telangiectases of soles HP:0100870 Plantar telangiectasia HP:0100870 Teleangiectases of palms HP:0100869 Telangiectases of palms and soles HP:0100869 Palmar telangiectasia HP:0100869 Duodenal stenosis/atresia HP:0100867 Duodenal stenosis HP:0100867 Short iliac bones HP:0100866 Broad ischia HP:0100865 Short femoral necks HP:0100864 Short femoral neck HP:0100864 Hypoplastic femoral neck HP:0100864 Hypoplasia of the femoral neck HP:0100864 Aplasia of the femoral neck HP:0100863 Aplasia of the femoral head HP:0100862 Vertebral body sclerosis HP:0100861 Inferior mesenteric artery aneurysm HP:0100860 Superior mesenteric artery aneurysm HP:0100859 Celiac artery aneurysm HP:0100858 Flat sella turcica HP:0100857 Poorly ossified vertebrae HP:0100856 Triceps hypoplasia HP:0100855 Aplasia of the musculature HP:0100854 Hypoplastic areolae HP:0100853 Hypoplastic areola HP:0100853 Abnormal fear/anxiety-related behavior HP:0100852 Abnormal emotion/affect behaviour HP:0100851 Abnormal emotion/affect behavior HP:0100851 Neoplasm of the penis HP:0100850 Neoplasia of the penis HP:0100850 Neoplasm of the scrotum HP:0100849 Neoplasia of the scrotum HP:0100849 Neoplasm of the male external genitalia HP:0100848 Neoplasia of the male external genitalia HP:0100848 Pustulosis palmaris et plantaris HP:0100847 Pustulosis of palms and soles HP:0100847 Palmoplantar pustulosis HP:0100847 Palmoplantar pustules HP:0100847 Anaphylactic shock HP:0100845 Pancreatic fistula HP:0100844 Glioblastoma HP:0100843 Septo-optic dysplasia HP:0100842 De Morsier syndrome HP:0100842 Microgastria HP:0100841 Sparse/absent eyebrows HP:0100840 Sparse to absent eyebrows HP:0100840 Sparse or absent eyebrows HP:0100840 Aplasia/Hypoplasia of the eyebrow HP:0100840 Liver agenesis HP:0100839 Hepatic agenesis HP:0100839 Recurrent cutaneous abscess formation HP:0100838 Vermiculata atrophoderma HP:0100837 Atrophodermia vermiculata HP:0100837 Malignant neoplasm of the central nervous system HP:0100836 Benign neoplasm of the central nervous system HP:0100835 Neoplasm of the large intestine HP:0100834 Neoplasm of the small intestine HP:0100833 Vitreous opacities HP:0100832 Vitreous floaters HP:0100832 Vitreous debris HP:0100832 Vitreous condensations HP:0100832 Myodesopsia HP:0100832 Myodeopsia HP:0100832 Myiodeopsia HP:0100832 Mouches volantes HP:0100832 Flitting flies HP:0100832 Abnormality of vitamin K metabolism HP:0100831 Round ear HP:0100830 Galactorrhoea HP:0100829 Galactorrhea HP:0100829 Increase in T cell number HP:0100828 Lymphocytosis HP:0100827 Neoplasm of the nail HP:0100826 Cheilitis HP:0100825 Genital hernia HP:0100823 Rectocele HP:0100822 Urethrocele HP:0100821 Glomerulopathy HP:0100820 Intestinal fistula HP:0100819 Long thorax HP:0100818 Renovascular hypertension HP:0100817 Hypertension due to renal artery hyperplasia HP:0100817 Lip hyperpigmentation HP:0100816 Mongolian spot HP:0100814 Congenital dermal melanocytosis HP:0100814 Blue nevus HP:0100814 Testicular torsion HP:0100813 Spermatic cord torsion HP:0100813 bad breath HP:0100812 Halitosis HP:0100812 Foetor ex ore HP:0100812 Aplasia/Hypoplasia of the colon HP:0100811 Pointed helix HP:0100810 Elfin ear HP:0100810 scalp pain HP:0100809 allodynia of scalp HP:0100809 Scalp tenderness HP:0100809 Scalp hypersensitivity HP:0100809 Stomach diverticulum HP:0100808 Gastric diverticulum HP:0100808 Long fingers HP:0100807 Sepsis HP:0100806 Precocious menopause HP:0100805 Ungual fibroma HP:0100804 Periungual fibroma HP:0100804 Parungual fibromas HP:0100804 Koenen's tumor HP:0100804 Koenen tumor HP:0100804 Abnormality of the periungual region HP:0100803 Malposition of the stomach HP:0100802 Gastric malposition HP:0100802 Gastric ectopia HP:0100802 Pancreatic aplasia HP:0100801 Aplasia/Hypoplasia of the pancreas HP:0100800 Neoplasm of the middle ear HP:0100799 Neoplasia of the middle ear HP:0100799 Fingernail dysplasia HP:0100798 Dysplastic fingernails HP:0100798 Toenail dysplasia HP:0100797 Dysplastic toenails HP:0100797 Orchitis HP:0100796 Abnormally straight spine HP:0100795 Nikolsky's sign HP:0100792 Acantholysis HP:0100792 Hernias HP:0100790 Hernia HP:0100790 Torus palatinus HP:0100789 Prominent midpalatal ridge (torus palatinus) HP:0100789 Palate exostoses HP:0100789 Fused lips HP:0100788 Prostate neoplasm HP:0100787 Hypersomnia HP:0100786 Insomnia HP:0100785 Peripheral arteriovenous fistula HP:0100784 Mammary gland aplasia HP:0100783 Congenital absence of breast HP:0100783 Breast aplasia HP:0100783 Absent breast HP:0100783 Abnormality of the sacroiliac joint HP:0100781 Conjunctival hamartoma HP:0100780 Urogenital sinus anomaly HP:0100779 Cryoglobulinemia HP:0100778 Exostoses HP:0100777 Recurrent pharyngitis HP:0100776 Pharyngitis, recurrent HP:0100776 Dural ectasia HP:0100775 Hyperostosis HP:0100774 Bone Hypertrophy HP:0100774 Cartilage destruction HP:0100773 Intestinal hypoperistalsis HP:0100771 Hypoperistalsis HP:0100771 Hyperperistalsis HP:0100770 Synovitis HP:0100769 Abnormality of levator labii superioris alaeque nasi muscle HP:0430020 Abnormality of musculature of facial expression HP:0430019 Abnormality of muscle of facial expression HP:0430019 Abnormality of nasal musculature HP:0430018 Abnormality of musculature of the nose HP:0430018 Abnormality of muscle of nose HP:0430018 Abnormality of uvular muscle HP:0430017 Abnormality of musculus uvulae HP:0430017 Abnormality of tensor veli palatini muscle HP:0430016 Abnormality of pharynx musculature HP:0430015 Abnormality of pharyngeal musculature HP:0430015 Abnormality of musculature of pharynx HP:0430015 Abnormality of muscles of the pharynx HP:0430015 Abnormality of soft palate muscles HP:0430014 Abnormality of musculature of soft palate HP:0430014 Absent palatine bone ossification HP:0430013 Incomplete ossification of palatine bone HP:0430012 Defect of palpebral conjunctiva HP:0430011 Microblepharia HP:0430010 Hypoplasia of eyelid HP:0430009 Accessory eyelid HP:0430008 Symblepharon HP:0430007 Ectopic cilia of eyelid HP:0430006 Abnormality of ethmoid bone HP:0430005 Frontomalar faciosynostosis HP:0430004 Abnormality of the palatine bone HP:0430003 Abnormality of the lacrimal bone HP:0430002 Abnormality of the frontal bone HP:0430000 Abnormality of cranial ganglion HP:0410016 Abnormality of ganglion of peripheral nervous system HP:0410015 Abnormality of ganglion HP:0410014 Abnormality of the submandibular region HP:0410013 Abnormality of the mouth floor HP:0410012 Abnormality of the floor of mouth HP:0410012 Abnormality of muscles of mastication HP:0410011 Abnormality of masticatory muscle HP:0410011 Abnormality of somatic nerve plexus HP:0410010 Abnormality of the somatic nervous system HP:0410009 Abnormality of the peripheral nervous system HP:0410008 Abnormality of cartilage HP:0410007 Abnormality of ophthalmic artery HP:0410006 Cleft hard palate HP:0410005 Cleft secondary palate HP:0410004 Cleft primary palate HP:0410003 Defect of vomer HP:0410000 Abnormality of vomer HP:0410000 Menometrorrhagia HP:0400008 Polymenorrhea HP:0400007 Short ears HP:0400005 Short ear HP:0400005 Long ears HP:0400004 Long ear HP:0400004 Focal absence of the external ear HP:0400003 Extra concha fold HP:0400002 Concha, Extra Fold HP:0400002 Chin, vertical crease HP:0400001 Chin with vertical crease HP:0400001 Tall chin HP:0400000 Agenesis of mandibular incisor HP:0200161 Agenesis of maxillary incisor HP:0200160 Agenesis of primary mandibular lateral incisor HP:0200159 Agenesis of permanent mandibular lateral incisor HP:0200158 Agenesis of mandibular lateral incisor HP:0200154 Agenesis of lateral incisor HP:0200153 Cutaneous mastocytosis HP:0200151 Increased serum bile acid concentration during pregnancy, resolves HP:0200150 Increased serum bile acid concentration during pregnancy HP:0200150 CSF lymphocytosis HP:0200149 CSF lymphocytic pleiocytosis HP:0200149 Abnormal liver function tests during pregnancy, resolves postpartum HP:0200148 Abnormal liver function tests during pregnancy HP:0200148 Neuronal loss in basal ganglia HP:0200147 Cystic medial necrosis of the aorta HP:0200146 Anaphylactoid purpura HP:0200144 Megaloblastic erythroid hyperplasia HP:0200143 Bone marrow biopsy shows megaloblastic erythroid hyperplasia HP:0200143 Small, conical teeth HP:0200141 Bilateral choanal atresia/stenosis HP:0200138 Oral-pharyngeal dysphagia HP:0200136 obsolete Macrocephaly due to hydrocephalus HP:0200135 Choriocarcinoma HP:0100768 Abnormality of the placenta HP:0100767 Abnormality of the lymphatic vessels HP:0100766 Abnormality of the tonsils HP:0100765 Lymphangioma HP:0100764 Lymphatic disease HP:0100763 Abnormality of the lymphatic system HP:0100763 Hemobilia HP:0100762 Haemobilia HP:0100762 Visceral angiomatosis HP:0100761 Clubbing of toes HP:0100760 Clubbing (feet) HP:0100760 Clubbed toes HP:0100760 Finger clubbing HP:0100759 Clubbing of fingers HP:0100759 Clubbing (hands) HP:0100759 Clubbed fingers HP:0100759 Gangrene HP:0100758 Pancreatoblastoma HP:0100757 Abnormality of salivation HP:0100755 Mania HP:0100754 Schizophrenia HP:0100753 Hepatic anomalous lobulation HP:0100752 Anomalous liver lobulation HP:0100752 Abnormal liver lobulation HP:0100752 Esophageal neoplasm HP:0100751 Celosomia HP:0100657 Thoracoabdominal wall defects HP:0100656 Retrobulbar optic neuritis HP:0100654 Retrobulbar neuritis HP:0100654 Optic neuritis HP:0100653 Type I diabetes mellitus HP:0100651 Juvenile diabetes mellitus HP:0100651 Insulin-dependent diabetes mellitus (type I) HP:0100651 Insulin-dependent diabetes mellitus HP:0100651 Diabetes mellitus Type I HP:0100651 Vaginal neoplasm HP:0100650 Vaginal neoplasia HP:0100650 Neoplasm of the oral cavity HP:0100649 Neoplasm of the tongue HP:0100648 Morbus Basedow HP:0100647 Graves disease HP:0100647 Thyroiditis HP:0100646 Cystocele HP:0100645 Melanonychia HP:0100644 Nail dyschromia HP:0100643 Abnormality of nail colour HP:0100643 Abnormality of nail color HP:0100643 Neoplasm of the adrenal medulla HP:0100642 Medullar adrenal neoplasia HP:0100642 Neoplasm of the adrenal cortex HP:0100641 Cortical adrenal neoplasia HP:0100641 Laryngeal cyst HP:0100640 Erectile abnormalities HP:0100639 Pharyngeal neoplasm HP:0100638 Neoplasm of the pharynx HP:0100638 Neoplasia of the pharynx HP:0100638 obsolete Neoplasia of the nose HP:0100637 Pulmonary paraglioma HP:0100636 Carotid paraganglioma HP:0100635 Neuroendocrine neoplasm HP:0100634 Neuroendocrine neoplasia HP:0100634 Oesophagitis HP:0100633 Esophagitis HP:0100633 Pulmonary sequestration HP:0100632 Cystic lung lesion HP:0100632 Neoplasm of the adrenal gland HP:0100631 Adrenal neoplasia HP:0100631 Neoplasia of the nasopharynx HP:0100630 Midline facial cleft HP:0100629 Esophageal pouch HP:0100628 Esophageal diverticulum HP:0100628 Displacement of the external urethral orifice HP:0100627 Displacement of the external urethral meatus HP:0100627 Chronic hepatic failure HP:0100626 Wide thorax HP:0100625 Wide rib cage HP:0100625 Enlarged thorax HP:0100625 Corpus cavernosum sclerosis HP:0100624 Abnormality of corpus cavernosum HP:0100623 Maternal seizures HP:0100622 Dysgerminoma HP:0100621 Germinoma HP:0100620 Sertoli cell neoplasm HP:0100619 Sertoli cell neoplasia HP:0100619 Leydig cell neoplasia HP:0100618 Testicular seminoma HP:0100617 Testicular teratoma HP:0100616 Ovarian neoplasm HP:0100615 Ovarian neoplasia HP:0100615 Neoplasm of the o HP:0100615 Myositis HP:0100614 Death in early adulthood HP:0100613 Odontogenic tumor HP:0100612 Odontogenic neoplasm HP:0100612 Multiple glomerular cysts HP:0100611 Glomerulocystic kidney disease HP:0100611 Maternal hyperphenylalaninemia HP:0100610 obsolete Hypermenorrhea HP:0100609 Metrorrhagia HP:0100608 Dysmenorrhea HP:0100607 Neoplasm of the respiratory system HP:0100606 Neoplasm of the larynx HP:0100605 Tumor of the lip HP:0100604 Neoplasm of the lip HP:0100604 Neoplasia of the lip HP:0100604 Toxemia of pregnancy HP:0100603 Hypertensive disorder of pregnancy HP:0100603 Preeclampsia HP:0100602 Pre-eclampsia HP:0100602 Eclampsia HP:0100601 Prepenile scrotum HP:0100600 Penoscrotal transposition HP:0100600 Penile duplication HP:0100599 Diphallia HP:0100599 Bifid penis HP:0100599 Pulmonary oedema HP:0100598 Pulmonary edema HP:0100598 Lung edema HP:0100598 Aplasia/Hypoplasia of the nares HP:0100596 Absent nares HP:0100596 Abouphalia HP:0100596 Camptocormia HP:0100595 Esophageal web HP:0100594 Calcification of cartilage HP:0100593 Peritoneal abscess HP:0100592 Rectal fistula HP:0100590 Urogenital fistula HP:0100589 Paraphimosis HP:0100588 Abnormality of the preputium HP:0100587 Aseptic leukocyturia HP:0100586 Telangiectasia of the skin HP:0100585 Endocarditis HP:0100584 Iridocele HP:0100583 Corneal perforation HP:0100583 Nasal polyps HP:0100582 Nasal polyposis HP:0100582 Megacalicosis HP:0100581 Endobrachyesophagus HP:0100580 Barrett's esophagus HP:0100580 Barrett esophagus HP:0100580 Mucosal telangiectasiae HP:0100579 Lipoatrophy HP:0100578 Urinary bladder inflammation HP:0100577 Cystitis of the urinary bladder HP:0100577 Amaurosis fugax HP:0100576 Neoplasm of the gallbladder HP:0100575 Neoplasia of the gallbladder HP:0100575 Neoplasia of the biliary tract HP:0100574 Biliary tract neoplasm HP:0100574 Muscular cardiac diverticulum HP:0100573 Fibrous cardiac diverticulum HP:0100572 Congenital vetricular aneurysm HP:0100572 Ventricular diverticulum HP:0100571 Cardiac diverticulum HP:0100571 Carcinoid tumors HP:0100570 Carcinoid tumor HP:0100570 Carcinoid HP:0100570 Abnormality of ossification/mineralisation of vertebrae HP:0100569 Abnormal vertebral ossification HP:0100569 Neoplasm of the endocrine system HP:0100568 Endocrine neoplasia HP:0100568 Amyelia HP:0100566 Hydromyelia HP:0100565 Triplomyelia HP:0100564 Diastomatomyelia HP:0100563 Diplomyelia HP:0100562 Spinal cord lesion HP:0100561 Upper limb asymmetry HP:0100560 Lower limb asymmetry HP:0100559 Leg length discrepancy HP:0100559 Hemihypotrophy of upper limb HP:0100558 Hemiatrophy of upper limb HP:0100558 Hemiatrophy of lower limb HP:0100557 Hemiatrophy of the body HP:0100556 Hemiatrophy HP:0100556 Asymmetric limb shortening HP:0100556 Asymmetric growth HP:0100555 Hemihypertrophy of upper limb HP:0100554 Hemihypertrophy of lower limb HP:0100553 Neoplasm of the tracheobronchial system HP:0100552 Tracheal neoplasm HP:0100551 Neoplasm of the trachea HP:0100551 Tendon rupture HP:0100550 Ruptured tendon HP:0100550 Rupture of tendons HP:0100550 Exstrophy HP:0100548 Abnormality of the forebrain HP:0100547 Abnormality of forebrain morphology HP:0100547 Carotid stenosis HP:0100546 Carotid artery stenosis HP:0100546 Arterial stenosis HP:0100545 Neoplasm of the heart HP:0100544 Cardiac neoplasm HP:0100544 Cardiac neoplasia HP:0100544 Mental impairment HP:0100543 Intellectual impairment HP:0100543 Cognitive impairment HP:0100543 Cognitive deficits HP:0100543 Cognitive defects HP:0100543 Cognitive abnormality HP:0100543 Abnormality of cognition HP:0100543 Abnormal localization of kidney HP:0100542 Abnormal localisation of kidneys HP:0100542 Femoral hernia HP:0100541 Crural hernia HP:0100541 Puffy lids HP:0100540 Puffy eyelids HP:0100540 Palpebral edema HP:0100540 Eyelid edema HP:0100540 Edema of the eyelids HP:0100540 Periorbital edema HP:0100539 Abnormality of the supraorbital ridges HP:0100538 Fasciitis HP:0100537 Abnormality of the fascia HP:0100536 Tibiofibular diastasis HP:0100535 Sclerosis of the phalanges of the 3rd finger HP:0100919 Sclerosis of 3rd finger phalanx HP:0100919 Sclerosis of the phalanges of the 2nd finger HP:0100918 Sclerosis of 2nd finger phalanx HP:0100918 Sclerosis of the proximal phalanges of the hand HP:0100917 Sclerosis of proximal finger phalanx HP:0100917 Sclerosis of the middle phalanges of the hand HP:0100916 Sclerosis of middle finger phalanx HP:0100916 Sclerosis of the distal phalanges of the hand HP:0100915 Sclerosis of distal finger phalanx HP:0100915 Sclerosis of the 1st metacarpal HP:0100914 Sclerosis of the proximal phalanx of the thumb HP:0100913 Sclerosis of the distal phalanx of the thumb HP:0100912 Sclerosis of the proximal phalanx of the 5th finger HP:0100911 Sclerosis of the proximal phalanx of the 4th finger HP:0100910 Sclerosis of the proximal phalanx of the 3rd finger HP:0100909 Sclerosis of the proximal phalanx of the 2nd finger HP:0100908 Sclerosis of the middle phalanx of the 5th finger HP:0100907 Sclerosis of the middle phalanx of the 4th finger HP:0100906 Sclerosis of the middle phalanx of the 3rd finger HP:0100905 Sclerosis of the middle phalanx of the 2nd finger HP:0100904 Sclerosis of the distal phalanx of the 5th finger HP:0100903 Sclerosis of the distal phalanx of the 4th finger HP:0100902 Sclerosis of the distal phalanx of the 3rd finger HP:0100901 Sclerosis of the distal phalanx of the 2nd finger HP:0100900 Sclerosis of the phalanges of the hand HP:0100899 Sclerosis of finger phalanx HP:0100899 Connective tissue nevi HP:0100898 Rectal polyps HP:0100896 Rectal polyposis HP:0100896 Multiple rectal polyps HP:0100896 Broad xiphoid process HP:0100894 Broad xiphisternum HP:0100894 Prominent xiphoid process HP:0100893 Episcleritis HP:0100534 Ocular inflammation HP:0100533 Inflammatory abnormality of the eye HP:0100533 Scleritis HP:0100532 Wind-swept deformity of the knees HP:0100531 Abnormality of calcium-phosphate metabolism HP:0100530 Abnormality of phosphate homeostasis HP:0100529 Pleuropulmonary blastoma HP:0100528 Neoplasia of the pleura HP:0100527 Neoplasm of the lung HP:0100526 Lung tumor HP:0100526 Urachus fistula HP:0100525 Limb duplication HP:0100524 Dimelia HP:0100524 Liver abscess HP:0100523 Hepatic abscess HP:0100523 Thymoma HP:0100522 Neoplasm of the thymus HP:0100521 Oliguria HP:0100520 Anuria HP:0100519 Dysuria HP:0100518 Neoplasm of the urethra HP:0100517 Neoplasia of the urethra HP:0100517 ureter, cancer of HP:0100516 Neoplasm of the ureter HP:0100516 Neoplasia of the ureters HP:0100516 Fibular deviation of toes HP:0100500 Tibial deviation of toes HP:0100499 Medial deviation of toes HP:0100499 Deviation of toes HP:0100498 Vitamin B3 deficiency HP:0100497 Abnormality of the vitamin B3 metabolism HP:0100496 Mastocytosis HP:0100495 Abnormality of mastocytes HP:0100494 Abnormality of mast cells HP:0100494 Hypoammonemia HP:0100493 Joint contractures involving the joints of the feet HP:0100492 Abnormality of the joints of the lower limbs HP:0100491 Abnormality of lower limb joint HP:0100491 Proximal interphalangeal finger joint contractures HP:0100490 Flexion contractures of proximal interphalangeal joints HP:0100490 Contractures of the proximal interphalangeal joints of the fingers HP:0100490 Camptodactyly of proximal interphalangeal joint HP:0100490 Camptodactyly of finger HP:0100490 Camptodactyly (hands) HP:0100490 Symphalangism of the middle and proximal phalanges of the 2nd toe HP:0100489 Proximal/middle symphalangism of 2nd toe HP:0100489 Synostosis of the proximal phalanx of the hallux with the 1st metatarsal HP:0100488 Triangular shaped distal phalanx of the 5th toe HP:0100487 Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal HP:0100486 Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal HP:0100485 Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal HP:0100484 Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal HP:0100483 Symphalangism of the middle and proximal phalanges of the 5th toe HP:0100482 Proximal/middle symphalangism of 5th toe HP:0100482 Symphalangism of the middle and proximal phalanges of the 4th toe HP:0100481 Proximal/middle symphalangism of 4th toe HP:0100481 Symphalangism of the middle and proximal phalanges of the 3rd toe HP:0100480 Proximal/middle symphalangism of 3rd toe HP:0100480 Symphalangism affecting the distal phalanx of the 5th toe HP:0100478 Symphalangism affecting the distal phalanx of the 4th toe HP:0100477 Symphalangism affecting the distal phalanx of the 3rd toe HP:0100476 Symphalangism affecting the proximal phalanx of the 5th toe HP:0100475 Symphalangism affecting the proximal phalanx of the 4th toe HP:0100474 Symphalangism affecting the proximal phalanx of the 3rd toe HP:0100473 Symphalangism affecting the middle phalanx of the 5th toe HP:0100472 Symphalangism affecting the middle phalanx of the 4th toe HP:0100471 Symphalangism affecting the middle phalanx of the 3rd toe HP:0100470 Patchy sclerosis of the distal phalanx of the 5th toe HP:0100469 Patchy sclerosis of the distal phalanx of the 4th toe HP:0100468 Patchy sclerosis of the distal phalanx of the 3rd toe HP:0100467 Patchy sclerosis of the proximal phalanx of the 5th toe HP:0100466 Patchy sclerosis of the proximal phalanx of the 4th toe HP:0100465 Patchy sclerosis of the proximal phalanx of the 3rd toe HP:0100464 Patchy sclerosis of the middle phalanx of the 5th toe HP:0100463 Patchy sclerosis of the middle phalanx of the 4th toe HP:0100462 Patchy sclerosis of the middle phalanx of the 3rd toe HP:0100461 Osteolytic defects of the distal phalanx of the 5th toe HP:0100460 Osteolytic defects of the distal phalanx of the 4th toe HP:0100459 Osteolytic defects of the distal phalanx of the 3rd toe HP:0100458 Osteolytic defects of the proximal phalanx of the 5th toe HP:0100457 Osteolytic defects of the proximal phalanx of the 4th toe HP:0100456 Osteolytic defects of the proximal phalanx of the 3rd toe HP:0100455 Osteolytic defects of the middle phalanx of the 5th toe HP:0100454 Osteolytic defects of the middle phalanx of the 4th toe HP:0100453 Osteolytic defects of the middle phalanx of the 3rd toe HP:0100452 Curved distal phalanx of the 5th toe HP:0100451 Curved distal phalanx of the 4th toe HP:0100450 Curved distal phalanx of the 3rd toe HP:0100449 Curved proximal phalanx of the 5th toe HP:0100448 Curved proximal phalanx of the 4th toe HP:0100447 Curved proximal phalanx of the 3rd toe HP:0100446 Curved middle phalanx of the 5th toe HP:0100445 Curved middle phalanx of the 4th toe HP:0100444 Curved middle phalanx of the 3rd toe HP:0100443 Bullet-shaped distal phalanx of the 5th toe HP:0100442 Bullet-shaped distal phalanx of the 4th toe HP:0100441 Bullet-shaped distal phalanx of the 3rd toe HP:0100440 Bullet-shaped proximal phalanx of the 5th toe HP:0100439 Bullet-shaped proximal phalanx of the 4th toe HP:0100438 Bullet-shaped proximal phalanx of the 3rd toe HP:0100437 Bullet-shaped middle phalanx of the 5th toe HP:0100436 Bullet-shaped middle phalanx of the 4th toe HP:0100435 Bullet-shaped middle phalanx of the 3rd toe HP:0100434 Broad distal phalanx of the 5th toe HP:0100433 Broad distal phalanx of the 4th toe HP:0100432 Broad distal phalanx of the 3rd toe HP:0100431 Broad proximal phalanx of the 5th toe HP:0100430 Broad proximal phalanx of the 4th toe HP:0100429 Broad proximal phalanx of the 3rd toe HP:0100428 Broad middle phalanx of the 5th toe HP:0100427 Broad middle phalanx of the 4th toe HP:0100426 Broad middle phalanx of the 3rd toe HP:0100425 Partial duplication of the proximal phalanx of the fifth toe HP:0100424 Partial duplication of the proximal phalanx of the 5th toe HP:0100424 Partial duplication of the proximal phalanx of the 4th toe HP:0100423 Partial duplication of the proximal phalanx of the third toe HP:0100422 Partial duplication of the proximal phalanx of the 3rd toe HP:0100422 Partial duplication of the middle phalanx of the fifth toe HP:0100421 Partial duplication of the middle phalanx of the 5th toe HP:0100421 Partial duplication of the middle phalanx of the fourth toe HP:0100420 Partial duplication of the middle phalanx of the 4th toe HP:0100420 Partial duplication of the middle phalanx of the third toe HP:0100419 Partial duplication of the middle phalanx of the 3rd toe HP:0100419 Partial duplication of the distal phalanx of the fifth toe HP:0100418 Partial duplication of the distal phalanx of the 5th toe HP:0100418 Partial duplication of the distal phalanx of the fourth toe HP:0100417 Partial duplication of the distal phalanx of the 4th toe HP:0100417 Partial duplication of the distal phalanx of the third toe HP:0100416 Partial duplication of the distal phalanx of the 3rd toe HP:0100416 Complete duplication of the proximal phalanx of the fifth toe HP:0100415 Complete duplication of the proximal phalanx of the 5th toe HP:0100415 Complete duplication of the proximal phalanx of the 4th toe HP:0100414 Complete duplication of the proximal phalanx of the 3rd toe HP:0100413 Complete duplication of the middle phalanx of the fifth toe HP:0100412 Complete duplication of the middle phalanx of the 5th toe HP:0100412 Complete duplication of the middle phalanx of the fourth toe HP:0100411 Complete duplication of the middle phalanx of the 4th toe HP:0100411 Complete duplication of the middle phalanx of the third toe HP:0100410 Complete duplication of the middle phalanx of the 3rd toe HP:0100410 Complete duplication of the distal phalanx of the fifth toe HP:0100409 Complete duplication of the distal phalanx of the 5th toe HP:0100409 Complete duplication of the distal phalanx of the fourth toe HP:0100408 Complete duplication of the distal phalanx of the 4th toe HP:0100408 Complete duplication of the distal phalanx of the third toe HP:0100407 Complete duplication of the distal phalanx of the 3rd toe HP:0100407 Partial/complete duplication of the proximal phalanx of the 5th toe HP:0100406 Duplication of the proximal phalanx of the fifth toe HP:0100406 Duplication of the proximal phalanx of the 5th toe HP:0100406 Partial/complete duplication of the proximal phalanx of the 4th toe HP:0100405 Duplication of the proximal phalanx of the fourth toe HP:0100405 Duplication of the proximal phalanx of the 4th toe HP:0100405 Partial/complete duplication of the proximal phalanx of the 3rd toe HP:0100404 Duplication of the proximal phalanx of the third toe HP:0100404 Duplication of the proximal phalanx of the 3rd toe HP:0100404 Partial/complete duplication of the middle phalanx of the 5th toe HP:0100403 Duplication of the middle phalanx of the fifth toe HP:0100403 Duplication of the middle phalanx of the 5th toe HP:0100403 Partial/complete duplication of the middle phalanx of the 4th toe HP:0100402 Duplication of the middle phalanx of the fourth toe HP:0100402 Duplication of the middle phalanx of the 4th toe HP:0100402 Partial/complete duplication of the middle phalanx of the 3rd toe HP:0100401 Duplication of the middle phalanx of the third toe HP:0100401 Duplication of the middle phalanx of the 3rd toe HP:0100401 Partial/complete duplication of the distal phalanx of the 5th toe HP:0100400 Duplication of the distal phalanx of the fifth toe HP:0100400 Duplication of the distal phalanx of the 5th toe HP:0100400 Partial/complete duplication of the distal phalanx of the 4th toe HP:0100399 Duplication of the distal phalanx of the fourth toe HP:0100399 Duplication of the distal phalanx of the 4th toe HP:0100399 Partial/complete duplication of the distal phalanx of the 3rd toe HP:0100398 Duplication of the distal phalanx of the third toe HP:0100398 Duplication of the distal phalanx of the 3rd toe HP:0100398 Short proximal phalanx of the fifth toe HP:0100397 Short proximal phalanx of the 5th toe HP:0100397 Hypoplastic/small proximal phalanx of the 5th toe HP:0100397 Short proximal phalanx of the fourth toe HP:0100396 Short proximal phalanx of the 4th toe HP:0100396 Short fourth toe proximal phalanx HP:0100396 Hypoplastic/small proximal phalanx of the 4th toe HP:0100396 Short proximal phalanx of the third toe HP:0100395 Short proximal phalanx of the 3rd toe HP:0100395 Hypoplastic/small proximal phalanx of the 3rd toe HP:0100395 Short middle phalanx of the fifth toe HP:0100394 Short middle phalanx of the 5th toe HP:0100394 Hypoplastic/small middle phalanx of the 5th toe HP:0100394 Short middle phalanx of the fourth toe HP:0100393 Short middle phalanx of the 4th toe HP:0100393 Hypoplastic/small middle phalanx of the 4th toe HP:0100393 Short middle phalanx of the third toe HP:0100392 Short middle phalanx of the 3rd toe HP:0100392 Hypoplastic/small middle phalanx of the 3rd toe HP:0100392 Short distal phalanx of the fifth toe HP:0100391 Short distal phalanx of the 5th toe HP:0100391 Hypoplastic/small distal phalanx of the 5th toe HP:0100391 Short distal phalanx of the fourth toe HP:0100390 Short distal phalanx of the 4th toe HP:0100390 Hypoplastic/small distal phalanx of the 4th toe HP:0100390 Short distal phalanx of the third toe HP:0100389 Short distal phalanx of the 3rd toe HP:0100389 Hypoplastic/small distal phalanx of the 3rd toe HP:0100389 Aplasia of the proximal phalanges of the toes HP:0100388 Aplasia of the middle phalanges of the toes HP:0100387 Aplasia of the proximal phalanx of the 5th toe HP:0100386 Aplasia of the proximal phalanx of the 4th toe HP:0100385 Aplasia of the proximal phalanx of the 3rd toe HP:0100384 Absent proximal phalanx of the 3rd toe HP:0100384 Aplasia of the middle phalanx of the 5th toe HP:0100383 Aplasia of the middle phalanx of the 4th toe HP:0100382 Aplasia of the middle phalanx of the 3rd toe HP:0100381 Absent middle phalanx of the third toe HP:0100381 Absent middle phalanx of the 3rd toe HP:0100381 Aplasia of the distal phalanx of the 5th toe HP:0100380 Aplasia of the distal phalanx of the 4th toe HP:0100379 Aplasia of the distal phalanx of the 3rd toe HP:0100378 Absent distal phalanx of the third toe HP:0100378 Pulmonary atelectasis HP:0100750 Atelectasis HP:0100750 Thoracic pain HP:0100749 Chest pain HP:0100749 Muscular edema HP:0100748 Macrodactyly of toe HP:0100747 Macrodactyly (feet) HP:0100747 Macrodactyly of finger HP:0100746 Macrodactyly (hands) HP:0100746 Abnormality of the humeroulnar joint HP:0100745 Abnormality of the humeroradial joint HP:0100744 Neoplasm of the rectum HP:0100743 Vascular neoplasm HP:0100742 Bulimia HP:0100739 Abnormal eating behavior HP:0100738 Abnormality of the hard palate HP:0100737 Abnormality of the soft palate HP:0100736 Hypertensive crisis HP:0100735 Abnormality of vertebral epiphysis morphology HP:0100734 Abnormality of the vertebral epiphyses HP:0100734 Parathyroid neoplasia HP:0100733 Neoplasm of the parathyroid gland HP:0100733 Pancreatic fibrosis HP:0100732 Transverse facial cleft HP:0100731 Tessier cleft number 7 HP:0100731 Lateral facial cleft HP:0100731 Bronchogenic cyst HP:0100730 Large face HP:0100729 Germ cell neoplasia HP:0100728 Histiocytosis HP:0100727 Kaposi's sarcoma HP:0100726 Lichenification HP:0100725 Thrombophilia HP:0100724 Hypercoagulability HP:0100724 Blood hyperviscosity HP:0100724 Gastrointestinal stromal tumors HP:0100723 Gastrointestinal stromal tumor HP:0100723 Gastrointestinal stroma tumor HP:0100723 GIST HP:0100723 Mediastinal lymphadenopathy HP:0100721 Hypoplasia of the ear cartilage HP:0100720 Lens coloboma HP:0100719 Uterine rupture HP:0100718 Abnormality of the cementum HP:0100717 Self-injurious behaviour HP:0100716 Self-injurious behaviors HP:0100716 Self-injurious behavior HP:0100716 Autoagression HP:0100716 Abnormality of the lumbar spine HP:0100712 Abnormality of the thoracic spine HP:0100711 Impulsivity HP:0100710 Reduction of oligodendroglia HP:0100709 Abnormality of the microglia HP:0100708 Abnormality of the astrocytes HP:0100707 Abnormality of the oligodendroglia HP:0100706 Abnormality of the glial cells HP:0100705 Cortical visual impairment HP:0100704 Cortical blindness HP:0100704 Tongue thrusting HP:0100703 Arachnoid cysts HP:0100702 Arachnoid cyst HP:0100702 Abnormality of the pia mater HP:0100701 Abnormality of the arachnoidea HP:0100700 Abnormality of the arachnoid mater HP:0100700 Scarring HP:0100699 Subcutaneous neurofibromas HP:0100698 Neurosarcoma HP:0100697 Neurofibrosarcoma HP:0100697 Malignant schwannoma HP:0100697 Malignant peripheral nerve sheath tumor HP:0100697 Lipedema HP:0100695 Tibial torsion HP:0100694 Iridodonesis HP:0100693 Steep corneal curvature HP:0100692 Increased corneal curvature HP:0100692 Abnormality of the curvature of the cornea HP:0100691 Mosaic central corneal dystrophy HP:0100690 Thin cornea HP:0100689 Decreased corneal thickness HP:0100689 Polyotia HP:0100687 Inflammation of sharpey fibers HP:0100686 Enthesitis HP:0100686 Enthesis abnormality HP:0100685 Abnormality of Sharpey fibers HP:0100685 Salivary gland neoplasm HP:0100684 Salivary gland neoplasia HP:0100684 Tracheal atresia HP:0100682 Esophageal duplication HP:0100681 Tight skin HP:0100679 Lack of skin elasticity HP:0100679 Wrinkled skin HP:0100678 Premature skin wrinkling HP:0100678 Vulval varicose vein HP:0100677 Vaginal lymphocele HP:0100676 Vaginal pyocele HP:0100675 Vaginal hematocele HP:0100674 Vaginal hydrocele HP:0100673 Vaginal hernia HP:0100672 Abnormality of bone trabeculation HP:0100671 Abnormal trabecular bone morphology HP:0100671 Rough trabeculation of bone HP:0100670 Rough bone trabeculation HP:0100670 Abnormal pigmentation of the oral mucosa/gingivae HP:0100669 Abnormal pigmentation of the oral mucosa HP:0100669 Abnormal pigmentation of oral cavity HP:0100669 Intestinal duplication HP:0100668 Gut duplication HP:0100668 Bowel duplication HP:0100668 Quincke edema HP:0100665 Angiooedema HP:0100665 Angioneurotic oedema HP:0100665 Angioedema HP:0100665 Synotia HP:0100663 Chondritis HP:0100662 Cartilage inflammation HP:0100662 Trigeminal neuralgia HP:0100661 Tic douloureux HP:0100661 Dyskinesis HP:0100660 Dyskinesias HP:0100660 Dyskinesia HP:0100660 Abnormality of the cerebral vasculature HP:0100659 Cellulitis HP:0100658 Kelosomia HP:0100657 Absent distal phalanx of the 3rd toe HP:0100378 Aplasia/hypoplasia of the proximal phalanx of the 5th toe HP:0100377 Aplasia/hypoplasia of the proximal phalanx of the 4th toe HP:0100376 Aplasia/hypoplasia of the proximal phalanx of the 3rd toe HP:0100375 Aplasia/Hypoplasia of the middle phalanx of the 5th toe HP:0100374 Aplasia/Hypoplasia of the middle phalanx of the 4th toe HP:0100373 Aplasia/Hypoplasia of the middle phalanx of the 3rd toe HP:0100372 Aplasia/Hypoplasia of the distal phalanx of the 5th toe HP:0100371 Aplasia/Hypoplasia of the distal phalanx of the 4th toe HP:0100370 Aplasia/Hypoplasia of the distal phalanx of the 3rd toe HP:0100369 Short phalanx of the fifth toe HP:0100368 Short phalanx of the 5th toe HP:0100368 Hypoplastic/small phalanges of the 5th toe HP:0100368 Short phalanx of the fourth toe HP:0100367 Short phalanx of the 4th toe HP:0100367 Hypoplastic/small phalanges of the 4th toe HP:0100367 Short phalanx of the third toe HP:0100366 Short phalanx of the 3rd toe HP:0100366 Hypoplastic/small phalanges of the 3rd toe HP:0100366 Aplasia of the phalanges of the 5th toe HP:0100364 Aplasia of the phalanges of the 4th toe HP:0100363 Aplasia of the phalanges of the 3rd toe HP:0100362 Contractures of the joints of the upper limbs HP:0100360 Contracture of the metatarsophalangeal joint of the 5th toe HP:0100359 Contracture of the metatarsophalangeal joint of the 4th toe HP:0100358 Contracture of the metatarsophalangeal joint of the 3rd toe HP:0100357 Contracture of the distal interphalangeal joint of the second toe HP:0100352 Contracture of the distal interphalangeal joint of the 2nd toe HP:0100352 Contractures of the proximal interphalangeal joint of the 5th toe HP:0100351 Camptodactyly of the fifth toe HP:0100351 Camptodactyly of the 5th toe HP:0100351 Contracture of the proximal interphalangeal joint of the 4th toe HP:0100350 Camptodactyly of the fourth toe HP:0100350 Camptodactyly of the 4th toe HP:0100350 Contracture of the proximal interphalangeal joint of the 3rd toe HP:0100349 Camptodactyly of the 3rd toe HP:0100349 Contracture of the proximal interphalangeal joint of the 2nd toe HP:0100348 Camptodactyly of the second toe HP:0100348 Camptodactyly of the 2nd toe HP:0100348 Tibial deviation of the 5th toe HP:0100347 Fibular deviation of the 5th toe HP:0100346 Tibial deviation of the 2nd toe HP:0100345 Fibular deviation of the 2nd toe HP:0100344 Tibial deviation of the 3rd toe HP:0100343 Fibular deviation of the 3rd toe HP:0100342 Tibial deviation of the 4th toe HP:0100341 Fibular deviation of the 4th toe HP:0100340 Abnormality of the os naviculare pedis HP:0100339 Non-midline cleft palate HP:0100338 Bilateral cleft palate HP:0100337 Bilateral cleft lip HP:0100336 Non-midline cleft of the upper lip HP:0100335 Non-midline cleft lip HP:0100335 Unilateral cleft palate HP:0100334 Unilateral cleft lip HP:0100333 Tarsometatarsal synostosis HP:0100329 Carpometacarpal synostosis HP:0100328 Cow milk allergy HP:0100327 Immunologic hypersensitivity HP:0100326 Scleroderma HP:0100324 Pseudoscleroderma HP:0100324 Progressive systemic scleroderma HP:0100324 Juvenile aseptic necrosis HP:0100323 Aseptic epiphyseal necrosis HP:0100323 Aplasia of the pyramidal tract HP:0100322 Abnormality of the dentate nucleus HP:0100321 Rosenthal fibres HP:0100320 Cerebral hyaline bodies HP:0100319 Cerebral colloid bodies HP:0100319 Lafora bodies HP:0100318 Pick inclusion bodies HP:0100317 Argyrophilic inclusion bodies HP:0100317 Hirano bodies HP:0100316 Lewy body diesase HP:0100315 Lewy bodies HP:0100315 Cerebral inclusion bodies HP:0100314 Cerebral granulomatosis HP:0100313 Cerebral germinoma HP:0100312 Cerebral ventricular adhesions HP:0100311 Extradural hematoma HP:0100310 Extradural haematoma HP:0100310 Epidural hemorrhage HP:0100310 Epidural hematoma HP:0100310 Epidural haematoma HP:0100310 Subdural hemorrhage HP:0100309 Subdural haematoma HP:0100309 Cerebral cortical hemiatrophy HP:0100308 Cerebellar hemisphere hypoplasia HP:0100307 Muscle fiber hyaline bodies HP:0100306 Ring fibers HP:0100305 Muscle fiber intranuclear inclusion bodies HP:0100304 Muscle fiber cytoplasmatic inclusion bodies HP:0100303 Muscle fiber tubuloreticular inclusions HP:0100302 Muscle fiber tubuloreticular aggregates HP:0100302 Muscle fiber tubular inclusions HP:0100301 Muscle fiber tubular aggregates HP:0100301 Desmin bodies HP:0100300 Muscle fiber inclusion bodies HP:0100299 Motheaten muscle fibers HP:0100298 Increased endomysial connective tissue HP:0100297 Perifascicular muscle fiber atrophy HP:0100296 Muscle fibre atrophy HP:0100295 Muscle fiber atrophy HP:0100295 Muscle fibre hypertrophy HP:0100293 Muscle fiber hypertrophy HP:0100293 Amyloidosis of peripheral nerves HP:0100292 Abnormality of central somatosensory evoked potentials HP:0100291 Abnormality of peripheral somatosensory evoked potentials HP:0100290 Abnormality of pattern reversal visual evoked potentials HP:0100289 Abnormality of pattern reversal VEP HP:0100289 EMG: myokymic discharges HP:0100288 EMG: slow motor conduction HP:0100287 EMG: impaired neuromuscular transmission HP:0100285 EMG: myotonic discharges HP:0100284 EMG: continuous motor unit activity at rest HP:0100283 Acute colitis HP:0100282 Chronic colitis HP:0100281 Morbus Crohn HP:0100280 Granulomatous enteritis and colitis HP:0100280 Crohn's disease HP:0100280 Ulcerative colitis HP:0100279 Colitis ulcerosa HP:0100279 Periauricular skin pits HP:0100277 Skin pits HP:0100276 Skin pit HP:0100276 Diffuse cerebellar atrophy HP:0100275 Gustatory lacrimation HP:0100274 Neoplasm of the colon HP:0100273 Branchial sinus HP:0100272 Hyponasal speech HP:0100271 Abnormality of dorsoventral patterning of the limbs HP:0100270 Paramedian lip pit HP:0100269 Upper lip pit HP:0100268 Lip pit HP:0100267 Synostosis of carpals/tarsals HP:0100266 Fusion of carpal and tarsal bones HP:0100266 Coalescence of carpal and tarsal bones HP:0100266 Carpal and tarsal fusions HP:0100266 Synostosis of metacarpals/metatarsals HP:0100265 Proximal symphalangism HP:0100264 Distal symphalangism HP:0100263 Synostosis involving digits HP:0100262 Abnormality of the sinew HP:0100261 Abnormal tendon morphology HP:0100261 Mesoaxial polydactyly HP:0100260 Intercalary polydactyly HP:0100260 Insertional polydactyly HP:0100260 Central polydactyly HP:0100260 Postaxial polydactyly HP:0100259 Postaxial hexadactyly HP:0100259 Preaxial polydactyly HP:0100258 Polydactyly, preaxial HP:0100258 Ectrodactyly HP:0100257 Senile plaques HP:0100256 Senile druse HP:0100256 Neuritic plaques HP:0100256 Braindruse HP:0100256 Metaphyseal dysplasia HP:0100255 Stenosis of the medullary cavity of the long bones HP:0100254 Abnormality of the medullary cavity of the long bones HP:0100253 Abnormality of the marrow cavity of the long bones HP:0100253 Diaphyseal dysplasia HP:0100252 Lipomas of the central neryous system HP:0100251 Meningeal calcification HP:0100250 Skeletal muscle calcinosis HP:0100249 Calcification of muscles HP:0100249 Hemiballismus HP:0100248 Recurrent synchronous diaphragmatic flutter HP:0100247 Recurrent singultus HP:0100247 Recurrent hiccup HP:0100247 Recurrent hiccough HP:0100247 Hiccups HP:0100247 Hiccup HP:0100247 Osteoma HP:0100246 Desmoid tumors HP:0100245 Fibrosarcoma HP:0100244 Leiomyosarcoma HP:0100243 Sarcoma HP:0100242 Ectopic respiratory mucosa HP:0100241 Synostosis of joints HP:0100240 Synostosis involving bones of the upper limbs HP:0100238 Proximal symphalangism (feet) HP:0100237 Synostosis involving bones of the toes HP:0100235 Triangular epiphysis of the proximal phalanx of the 5th toe HP:0100234 Stippling of the epiphysis of the proximal phalanx of the 5th toe HP:0100233 Small epiphysis of the proximal phalanx of the 5th toe HP:0100232 Pseudoepiphysis of the proximal phalanx of the 5th toe HP:0100231 Ivory epiphysis of the proximal phalanx of the 5th toe HP:0100230 Irregular epiphysis of the proximal phalanx of the 5th toe HP:0100229 Fragmentation of the epiphysis of the proximal phalanx of the 5th toe HP:0100228 Enlarged epiphysis of the proximal phalanx of the 5th toe HP:0100227 Cone-shaped epiphysis of the proximal phalanx of the 5th toe HP:0100226 Bracket epiphysis of the proximal phalanx of the 5th toe HP:0100225 Absent epiphysis of the proximal phalanx of the 5th toe HP:0100224 Triangular epiphysis of the middle phalanx of the 5th toe HP:0100223 Stippling of the epiphysis of the middle phalanx of the 5th toe HP:0100222 Small epiphysis of the middle phalanx of the 5th toe HP:0100221 Pseudoepiphysis of the middle phalanx of the 5th toe HP:0100220 Ivory epiphysis of the middle phalanx of the 5th toe HP:0100219 Irregular epiphysis of the middle phalanx of the 5th toe HP:0100218 Fragmentation of the epiphysis of the middle phalanx of the 5th toe HP:0100217 Enlarged epiphysis of the middle phalanx of the 5th toe HP:0100216 Cone-shaped epiphysis of the middle phalanx of the 5th toe HP:0100215 Bracket epiphysis of the middle phalanx of the 5th toe HP:0100214 Absent epiphysis of the middle phalanx of the 5th toe HP:0100213 Triangular epiphysis of the distal phalanx of the 5th toe HP:0100212 Stippling of the epiphysis of the distal phalanx of the 5th toe HP:0100211 Small epiphysis of the distal phalanx of the 5th toe HP:0100210 Pseudoepiphysis of the distal phalanx of the 5th toe HP:0100209 Ivory epiphysis of the distal phalanx of the 5th toe HP:0100208 Irregular epiphysis of the distal phalanx of the 5th toe HP:0100207 Fragmentation of the epiphysis of the distal phalanx of the 5th toe HP:0100206 Enlarged epiphysis of the distal phalanx of the 5th toe HP:0100205 Cone-shaped epiphysis of the distal phalanx of the 5th toe HP:0100204 Bracket epiphysis of the distal phalanx of the 5th toe HP:0100203 Absent epiphysis of the distal phalanx of the 5th toe HP:0100202 Pollakisuria HP:0100515 Abnormality of vitamin E metabolism HP:0100514 Vitamin E deficiency HP:0100513 Vitamin D deficiency HP:0100512 Abnormality of vitamin D metabolism HP:0100511 Vitamin C deficiency HP:0100510 Abnormality of vitamin C metabolism HP:0100509 Abnormality of vitamin metabolism HP:0100508 Vitamin B9 deficiency HP:0100507 Folate deficiency HP:0100507 Vitamin B8 deficiency HP:0100506 Vitamin B5 deficiency HP:0100505 Vitamin B2 deficiency HP:0100504 Riboflavin deficiency HP:0100504 Vitamin B1 deficiency HP:0100503 Vitamin B12 deficiency HP:0100502 Recurrent bronchiolitis HP:0100501 Lateral deviation of toes HP:0100500 Triangular epiphysis of the proximal phalanx of the 4th toe HP:0100201 Stippling of the epiphysis of the proximal phalanx of the 4th toe HP:0100200 Small epiphysis of the proximal phalanx of the 4th toe HP:0100199 Pseudoepiphysis of the proximal phalanx of the 4th toe HP:0100198 Ivory epiphysis of the proximal phalanx of the 4th toe HP:0100197 Irregular epiphysis of the proximal phalanx of the 4th toe HP:0100196 Fragmentation of the epiphysis of the proximal phalanx of the 4th toe HP:0100195 Enlarged epiphysis of the proximal phalanx of the 4th toe HP:0100194 Cone-shaped epiphysis of the proximal phalanx of the 4th toe HP:0100193 Bracket epiphysis of the proximal phalanx of the 4th toe HP:0100192 Absent epiphysis of the proximal phalanx of the 4th toe HP:0100191 Triangular epiphysis of the middle phalanx of the 4th toe HP:0100190 Stippling of the epiphysis of the middle phalanx of the 4th toe HP:0100189 Small epiphysis of the middle phalanx of the 4th toe HP:0100188 Pseudoepiphysis of the middle phalanx of the 4th toe HP:0100187 Ivory epiphysis of the middle phalanx of the 4th toe HP:0100186 Irregular epiphysis of the middle phalanx of the 4th toe HP:0100185 Fragmentation of the epiphysis of the middle phalanx of the 4th toe HP:0100184 Enlarged epiphysis of the middle phalanx of the 4th toe HP:0100183 Cone-shaped epiphysis of the middle phalanx of the 4th toe HP:0100182 Bracket epiphysis of the middle phalanx of the 4th toe HP:0100181 Absent epiphysis of the middle phalanx of the 4th toe HP:0100180 Triangular epiphysis of the distal phalanx of the 4th toe HP:0100179 Stippling of the epiphysis of the distal phalanx of the 4th toe HP:0100178 Small epiphysis of the distal phalanx of the 4th toe HP:0100177 Pseudoepiphysis of the distal phalanx of the 4th toe HP:0100176 Ivory epiphysis of the distal phalanx of the 4th toe HP:0100175 Irregular epiphysis of the distal phalanx of the 4th toe HP:0100174 Fragmentation of the epiphysis of the distal phalanx of the 4th toe HP:0100173 Enlarged epiphysis of the distal phalanx of the 4th toe HP:0100172 Cone-shaped epiphysis of the distal phalanx of the 4th toe HP:0100171 Bracket epiphysis of the distal phalanx of the 4th toe HP:0100170 Absent epiphysis of the distal phalanx of the 4th toe HP:0100169 Fragmented epiphyses HP:0100168 Triangular epiphysis of the proximal phalanx of the 3rd toe HP:0100167 Stippling of the epiphysis of the proximal phalanx of the 3rd toe HP:0100166 Small epiphysis of the proximal phalanx of the 3rd toe HP:0100165 Pseudoepiphysis of the proximal phalanx of the 3rd toe HP:0100164 Ivory epiphysis of the proximal phalanx of the 3rd toe HP:0100163 Irregular epiphysis of the proximal phalanx of the 3rd toe HP:0100162 Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe HP:0100161 Enlarged epiphysis of the proximal phalanx of the 3rd toe HP:0100160 Cone-shaped epiphysis of the proximal phalanx of the 3rd toe HP:0100159 Bracket epiphysis of the proximal phalanx of the 3rd toe HP:0100158 Absent epiphysis of the proximal phalanx of the 3rd toe HP:0100157 Triangular epiphysis of the middle phalanx of the 3rd toe HP:0100156 Stippling of the epiphysis of the middle phalanx of the 3rd toe HP:0100155 Small epiphysis of the middle phalanx of the 3rd toe HP:0100154 Pseudoepiphysis of the middle phalanx of the 3rd toe HP:0100153 Ivory epiphysis of the middle phalanx of the 3rd toe HP:0100152 Irregular epiphysis of the middle phalanx of the 3rd toe HP:0100151 Fragmentation of the epiphysis of the middle phalanx of the 3rd toe HP:0100150 Enlarged epiphysis of the middle phalanx of the 3rd toe HP:0100149 Cone-shaped epiphysis of the middle phalanx of the 3rd toe HP:0100148 Bracket epiphysis of the middle phalanx of the 3rd toe HP:0100147 Absent epiphysis of the middle phalanx of the 3rd toe HP:0100146 Triangular epiphysis of the distal phalanx of the 3rd toe HP:0100145 Stippling of the epiphysis of the distal phalanx of the 3rd toe HP:0100144 Small epiphysis of the distal phalanx of the 3rd toe HP:0100143 Pseudoepiphysis of the distal phalanx of the 3rd toe HP:0100142 Ivory epiphysis of the distal phalanx of the 3rd toe HP:0100141 Irregular epiphysis of the distal phalanx of the 3rd toe HP:0100140 Fragmentation of the epiphysis of the distal phalanx of the 3rd toe HP:0100139 Enlarged epiphysis of the distal phalanx of the 3rd toe HP:0100138 Cone-shaped epiphysis of the distal phalanx of the 3rd toe HP:0100137 Bracket epiphysis of the distal phalanx of the 3rd toe HP:0100136 Absent epiphysis of the distal phalanx of the 3rd toe HP:0100135 Abnormality of the axillary hair HP:0100134 Abnormality of the pubic hair HP:0100133 Triangular epiphysis of the proximal phalanx of the 2nd toe HP:0100132 Stippling of the epiphysis of the proximal phalanx of the 2nd toe HP:0100131 Small epiphysis of the proximal phalanx of the 2nd toe HP:0100130 Pseudoepiphysis of the proximal phalanx of the 2nd toe HP:0100129 Ivory epiphysis of the proximal phalanx of the 2nd toe HP:0100128 Irregular epiphysis of the proximal phalanx of the 2nd toe HP:0100127 Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe HP:0100126 Enlarged epiphysis of the proximal phalanx of the 2nd toe HP:0100125 Cone-shaped epiphysis of the proximal phalanx of the 2nd toe HP:0100124 Bracket epiphysis of the proximal phalanx of the 2nd toe HP:0100123 Absent epiphysis of the proximal phalanx of the 2nd toe HP:0100122 Triangular epiphysis of the middle phalanx of the 2nd toe HP:0100121 Stippling of the epiphysis of the middle phalanx of the 2nd toe HP:0100120 Small epiphysis of the middle phalanx of the 2nd toe HP:0100119 Pseudoepiphysis of the middle phalanx of the 2nd toe HP:0100118 Ivory epiphysis of the middle phalanx of the 2nd toe HP:0100117 Irregular epiphysis of the middle phalanx of the 2nd toe HP:0100116 Fragmentation of the epiphysis of the middle phalanx of the 2nd toe HP:0100115 Enlarged epiphysis of the middle phalanx of the 2nd toe HP:0100114 Cone-shaped epiphysis of the middle phalanx of the 2nd toe HP:0100113 Bracket epiphysis of the middle phalanx of the 2nd toe HP:0100112 Absent epiphysis of the middle phalanx of the 2nd toe HP:0100111 Triangular epiphysis of the distal phalanx of the 2nd toe HP:0100110 Stippling of the epiphysis of the distal phalanx of the 2nd toe HP:0100109 Small epiphysis of the distal phalanx of the 2nd toe HP:0100108 Pseudoepiphysis of the distal phalanx of the 2nd toe HP:0100107 Ivory epiphysis of the distal phalanx of the 2nd toe HP:0100106 Irregular epiphysis of the distal phalanx of the 2nd toe HP:0100105 Fragmentation of the epiphysis of the distal phalanx of the 2nd toe HP:0100104 Enlarged epiphysis of the distal phalanx of the 2nd toe HP:0100103 Cone-shaped epiphysis of the distal phalanx of the 2nd toe HP:0100102 Bracket epiphysis of the distal phalanx of the 2nd toe HP:0100101 Absent epiphysis of the distal phalanx of the 2nd toe HP:0100100 Abnormality of the epiphysis of the proximal phalanx of the 5th toe HP:0100099 Abnormality of the epiphysis of the middle phalanx of the 5th toe HP:0100098 Abnormality of the epiphysis of the distal phalanx of the 5th toe HP:0100097 Abnormality of the epiphysis of the proximal phalanx of the 4th toe HP:0100096 Abnormality of the epiphysis of the middle phalanx of the 4th toe HP:0100095 Abnormality of the epiphysis of the distal phalanx of the 4th toe HP:0100094 Abnormality of the epiphysis of the proximal phalanx of the 3rd toe HP:0100093 Abnormality of the epiphysis of the middle phalanx of the 3rd toe HP:0100092 Abnormality of the epiphysis of the distal phalanx of the 3rd toe HP:0100091 Abnormality of the epiphysis of the proximal phalanx of the 2nd toe HP:0100090 Abnormality of the epiphysis of the middle phalanx of the 2nd toe HP:0100089 Abnormality of the epiphysis of the distal phalanx of the 2nd toe HP:0100088 Triangular epiphyses of the 5th toe HP:0100087 Stippling of the epiphyses of the 5th toe HP:0100086 Small epiphyses of the 5th toe HP:0100085 Pseudoepiphyses of the 5th toe HP:0100084 Ivory epiphyses of the 5th toe HP:0100083 Irregular epiphyses of the 5th toe HP:0100082 Fragmentation of the epiphyses of the 5th toe HP:0100081 Enlarged epiphyses of the 5th toe HP:0100080 Cone-shaped epiphyses of the 5th toe HP:0100079 Bracket epiphyses of the 5th toe HP:0100078 Absent epiphyses of the 5th toe HP:0100077 Triangular epiphyses of the 4th toe HP:0100076 Stippling of the epiphyses of the 4th toe HP:0100075 Small epiphyses of the 4th toe HP:0100074 Pseudoepiphyses of the 4th toe HP:0100073 Ivory epiphyses of the 4th toe HP:0100072 Irregular epiphyses of the 4th toe HP:0100071 Fragmentation of the epiphyses of the 4th toe HP:0100070 Enlarged epiphyses of the 4th toe HP:0100069 Cone-shaped epiphyses of the 4th toe HP:0100068 Bracket epiphyses of the 4th toe HP:0100067 Absent epiphyses of the 4th toe HP:0100066 Triangular epiphyses of the 3rd toe HP:0100065 Stippling of the epiphyses of the 3rd toe HP:0100064 Small epiphyses of the 3rd toe HP:0100063 Pseudoepiphyses of the 3rd toe HP:0100062 Ivory epiphyses of the 3rd toe HP:0100061 Irregular epiphyses of the 3rd toe HP:0100060 Fragmentation of the epiphyses of the 3rd toe HP:0100059 Enlarged epiphyses of the 3rd toe HP:0100058 Cone-shaped epiphyses of the 3rd toe HP:0100057 Bracket epiphyses of the 3rd toe HP:0100056 Absent epiphyses of the 3rd toe HP:0100055 Triangular epiphyses of the 2nd toe HP:0100054 Stippling of the epiphyses of the 2nd toe HP:0100053 Small epiphyses of the 2nd toe HP:0100052 Pseudoepiphyses of the 2nd toe HP:0100051 Ivory epiphyses of the 2nd toe HP:0100050 Irregular epiphyses of the 2nd toe HP:0100049 Fragmentation of the epiphyses of the 2nd toe HP:0100048 Enlarged epiphyses of the 2nd toe HP:0100047 Cone-shaped epiphyses of the 2nd toe HP:0100046 Bracket epiphyses of the 2nd toe HP:0100045 Absent epiphyses of the 2nd toe HP:0100044 Broad 5th toe HP:0100043 Broad 4th toe HP:0100042 Broad 3rd toe HP:0100041 Broad 2nd toe HP:0100040 Thickened cortex of bones HP:0100039 Slow-growing scalp hair HP:0100038 Abnormality of the scalp hair HP:0100037 Pseudo-fractures HP:0100036 Looser zones HP:0100036 Vocal tics HP:0100035 Verbal tics HP:0100035 Phonic tics HP:0100035 Motor tics HP:0100034 Tics HP:0100033 Tic disorder HP:0100033 Neoplasm of the thyroid gland HP:0100031 Neoplasia of the thyroid gland HP:0100031 Accessory ectopic thyroid tissue HP:0100030 Lingual thyroid HP:0100029 Ectopic thyroid HP:0100028 Aberrant thyroid HP:0100028 Recurring pancreatitis HP:0100027 Recurrent pancreatitis HP:0100027 Arteriovenous malformation HP:0100026 Overfriendliness HP:0100025 Happy aspect HP:0100024 Conspicuously happy disposition HP:0100024 Conspicious happy aspect HP:0100024 Recurrent hand flapping HP:0100023 Movement disorder HP:0100022 Abnormality of movement HP:0100022 Cerebral paralysis HP:0100021 Cerebral palsy HP:0100021 Posterior capsular cataract HP:0100020 Cortical cataract HP:0100019 Nuclear cataract HP:0100018 Capsular cataract HP:0100017 Abnormality of the mesentery HP:0100016 Vulcan ear HP:0100015 Third crus HP:0100015 Stahl ear HP:0100015 Spock ear HP:0100015 Additional crus HP:0100015 Premacular fibrosis HP:0100014 Macular pucker HP:0100014 Epiretinal membranes HP:0100014 Epiretinal membrane HP:0100014 Tumours of the breast HP:0100013 Neoplasm of the breast HP:0100013 Neoplasia of the breast HP:0100013 Neoplasm of the eye HP:0100012 Neoplasia of the eye HP:0100012 Scleral schwannoma HP:0100011 Spinal meningioma HP:0100010 Intracranial meningioma HP:0100009 Schwannomas HP:0100008 Schwannoma HP:0100008 Schwann cell tumour HP:0100008 Contracture of the metatarsophalangeal joint of the 2nd toe HP:0100356 Contractures of the distal interphalangeal joint of the 5th toe HP:0100355 Contracture of the distal interphalangeal joint of the 4th toe HP:0100354 Contracture of the distal interphalangeal joint of the 3rd toe HP:0100353 Schwann cell tumor HP:0100008 Neurolemmoma HP:0100008 Neurinoma HP:0100008 Neurilemmoma HP:0100008 Tumor of the peripheral nervous system HP:0100007 Neoplasm of the peripheral nervous system HP:0100007 Tumors of the central nervous system HP:0100006 Neoplasm of the central nervous system HP:0100006 Neoplasia of the central nervous system HP:0100006 Testicular mesothelioma HP:0100005 Pericardial mesothelioma HP:0100004 Peritoneal mesothelioma HP:0100003 Pleural mesothelioma HP:0100002 Malignant mesothelioma HP:0100001 Early onset of sexual maturation HP:0100000 Decreased carnitine level in liver HP:0045061 Aplasia/hypoplasia involving bones of the extremities HP:0045060 Hyperkeratotic papule HP:0045059 Abnormality of the testis size HP:0045058 Decreased levels of alpha-fetoprotein HP:0045057 Abnormal levels of alpha-fetoprotein HP:0045056 Tiger tail banding HP:0045055 Brachial plexus neuropathy HP:0045054 Abnormality of the lumbosacral nerve plexus HP:0045053 Abnormality of the brachial nerve plexus HP:0045052 Decreased diffusing capacity HP:0045051 Long lower eyelashes HP:0040053 Abnormality of lower eyelashes HP:0040052 Abnormality of upper eyelashes HP:0040051 Sparse upper eyelashes HP:0040050 Macular edema HP:0040049 Aplasia of the left hemidiaphragm HP:0040048 Abnormality of the right hemidiaphragm HP:0040047 Abnormality of the left hemidiaphragm HP:0040046 Abnormality of the hemidiaphragms HP:0040045 Hypoplasia of the diaphragm HP:0040044 Hypoplasia of the eccrine sweat glands HP:0040043 Aplasia of the eccrine sweat glands HP:0040042 Onycholysis of toenails HP:0040040 Onycholysis of fingernails HP:0040039 Onycholysis of fingernail HP:0040039 obsolete Thin toenail HP:0040038 obsolete Thin fingernail (obsolete) HP:0040037 Onychogryposis of fingernail HP:0040036 Abnormality of the fourth metatarsal bone HP:0040035 Abnormality of the second metatarsal bone HP:0040034 Aplasia/Hypoplasia of the fifth metatarsal bone HP:0040033 Hypoplasia of the upper eyelids HP:0040032 Chorioretinal hyperpigmentation HP:0040031 Chorioretinal hypopigmentation HP:0040030 Clinodactyly of the 4th finger HP:0040025 Clinodactyly of the 3rd finger HP:0040024 Clinodactyly of the thumb HP:0040023 Clinodactyly of the 2nd finger HP:0040022 Radial deviation of the thumb HP:0040021 Radial deviation of the 5th finger HP:0040020 Finger clinodactyly HP:0040019 Clinodactyly of hallux HP:0040018 Protruding coccyx HP:0040017 Prominent coccyx HP:0040016 Increased activity of mitochondrial respiratory chain HP:0040015 Increased mitochondrial number HP:0040014 Decreased mitochondrial number HP:0040013 Chromsome breakage HP:0040012 Flat posterior fossa HP:0040011 Small posterior fossa HP:0040010 Hyperparakeratosis HP:0040009 Aplasia of facial bones HP:0040008 Absent pigmentation of chest HP:0040007 Mortality/Aging HP:0040006 Abnormality of corneal shape HP:0040004 Pineal parenchymal cell neoplasm HP:0030694 Supratentorial neoplasm HP:0030693 Pineal parenchymal tumour HP:0030693 Pineal parenchymal tumor HP:0030693 Brain tumour HP:0030692 Brain tumor HP:0030692 Brain neoplasm HP:0030692 Divergence nystagmus HP:0030691 A condition in which both eyes beat ourward simultaneously. HP:0030691 Gingival cleft HP:0030690 Decreased glucagon level HP:0030689 Increased glucagon level HP:0030688 Abnormal glucagon level HP:0030687 Increased adiponectin level HP:0030686 Decreased adiponectin level HP:0030685 Abnormal adiponectin level HP:0030684 Vaginitis HP:0030683 Left ventricular noncompaction HP:0030682 Abnormal morphology of myocardial trabeculae HP:0030681 Cardiovascular malformations HP:0030680 Abnormality of cardiovascular system morphology HP:0030680 Ash-leaf spot HP:0030679 Mozart ear HP:0030677 Satyr ear HP:0030676 Devil ear HP:0030676 Contracture of proximal interphalangeal joints of 2nd-5th fingers HP:0030675 Antenatal onset HP:0030674 Erosive vitreoretinopathy HP:0030673 Asteroid hyalosis HP:0030672 Abnormality of the common tendinous ring HP:0030671 Hamartoma of the orbital region HP:0030670 Abnormal morphology of the ocular adnexa HP:0030669 Periorbital dermoid cyst HP:0030668 Peripheral retinal neovascularization HP:0030667 Retinal neovascularization HP:0030666 Retinal neovascularisation HP:0030666 Rubral tremor HP:0030665 Holmes' tremor HP:0030665 Beevor's sign HP:0030664 Optically empty vitreous HP:0030663 Vitreous inflammatory cells HP:0030662 Vitreous snowballs HP:0030661 Furcate cord insertion HP:0030660 Velamentous cord insertion HP:0030659 Marginal umbilical cord insertion HP:0030658 Marginal cord insertion HP:0030658 Umbilical cord hematoma HP:0030657 Umbilical cord haematoma HP:0030657 Umbilical vein varix HP:0030656 Umbilical cord knot HP:0030655 Umbilical cord cyst HP:0030654 Vitreous haze HP:0030652 Multifocal HP:0030651 Focal HP:0030650 Pericentral HP:0030649 Midperipheral HP:0030648 Mid-peripheral HP:0030648 Paracentral HP:0030647 Peripheral HP:0030646 Central HP:0030645 Blind-spot enlargment HP:0030644 Blind spot enlargment HP:0030644 Vitelliform-like retinal lesions HP:0030643 Fundus albipunctatus HP:0030642 Incomplete congenital stationary night blindness HP:0030641 Complete congenital stationary night blindness HP:0030640 Congenital stationary night blindness with abnormal fundus HP:0030639 Congenital stationary night blindness with normal fundus HP:0030638 Cone dysfunction syndrome HP:0030637 Occult macular dystrophy HP:0030636 Retinal dystrophy with early macular involvement HP:0030635 Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence HP:0030634 Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence HP:0030633 Hypoautofluorescent macular lesions HP:0030632 Hyperautofluorescent macular lesions HP:0030631 Irregular central macular autofluorescence HP:0030630 Perifoveal ring of hyperautofluorescence HP:0030629 Foveal subretinal hyporeflective spaces on macular OCT HP:0030628 Foveal hyporeflective spaces on macular OCT HP:0030627 Foveal intraretinal hyporeflective spaces on macular OCT HP:0030626 Hyporeflective spaces on macular OCT HP:0030625 Subretinal hyporeflective spaces on macular OCT HP:0030624 Intraretinal hyporeflective spaces on macular OCT HP:0030623 Abnormal foveal pit on macular OCT HP:0030622 Foveal inner retinal layer loss on macular OCT HP:0030621 Inner retinal layer loss on macular OCT HP:0030620 Reduced OCT-measured foveal thickness HP:0030619 Increased OCT-measured foveal thickness HP:0030618 Abnormal OCT-measured foveal thickness HP:0030617 Foveal retinal pigment epithelial loss on macular OCT HP:0030616 Foveal photoreceptor outer segment loss on macular OCT HP:0030615 Foveal photoreceptor layer loss on macular OCT HP:0030614 Abnormal foveal morphology on macular OCT HP:0030613 Abnormal retinal morphology on macular OCT HP:0030612 Retinal pigment epithelial loss on macular OCT HP:0030611 Photoreceptor outer segment loss on macular OCT HP:0030610 Photoreceptor layer loss on macular OCT HP:0030609 Increased OCT-measured macular thickness HP:0030608 Reduced OCT-measured macular thickness HP:0030607 Abnormal OCT-measured macular thickness HP:0030606 Abnormal indocyanine green angiography HP:0030605 Abnormal fundus fluorescein angiography HP:0030604 Abnormal optical coherence tomography HP:0030603 Abnormal fundus autofluorescence imaging HP:0030602 Abnormal posterior segment imaging HP:0030601 Abnormal Estermann grid perimetry test HP:0030599 Abnormal Humphrey SITA 10-2 perimetry test HP:0030598 Abnormal Humphrey SITA 24-2 perimetry test HP:0030597 Abnormal Humphrey SITA 30-2 perimetry test HP:0030596 Abnormal static automated perimetry test HP:0030595 Abnormal automated kinetic perimetry test HP:0030594 Abnormal manual kinetic perimetry test HP:0030593 Abnormal static perimetry test HP:0030592 Abnormal kinetic perimetry test HP:0030591 Abnormal Amsler grid test HP:0030590 Abnormal confrontational visual field test HP:0030589 Abnormal visual field test HP:0030588 Abnormal Hardy-Rand-Rittler plate test HP:0030587 Abnormal Ishihara plate test HP:0030586 Red desaturation HP:0030585 Color vision test abnormality HP:0030584 Pinhole visual acuity 3.0 LogMAR HP:0030583 Pinhole visual acuity 2.0 LogMAR HP:0030582 Pinhole visual acuity 1.3 LogMAR HP:0030581 Pinhole visual acuity 1.2 LogMAR HP:0030580 Pinhole visual acuity 1.1 LogMAR HP:0030579 Pinhole visual acuity 1.0 LogMAR HP:0030578 Pinhole visual acuity 0.9 LogMAR HP:0030577 Pinhole visual acuity 0.8 LogMAR HP:0030576 Pinhole visual acuity 0.7 LogMAR HP:0030575 Pinhole visual acuity 0.6 LogMAR HP:0030574 Pinhole visual acuity 0.5 LogMAR HP:0030573 Pinhole visual acuity 0.4 LogMAR HP:0030572 Pinhole visual acuity 0.3 LogMAR HP:0030571 Pinhole visual acuity 0.2 LogMAR HP:0030570 Pinhole visual acuity 0.1 LogMAR HP:0030569 Best corrected visual acuity 3.0 LogMAR HP:0030568 Best corrected visual acuity 2.0 LogMAR HP:0030567 Best corrected visual acuity 1.3 LogMAR HP:0030566 Best corrected visual acuity 1.2 LogMAR HP:0030565 Best corrected visual acuity 1.1 LogMAR HP:0030564 Best corrected visual acuity 1.0 LogMAR HP:0030563 Best corrected visual acuity 0.9 LogMAR HP:0030562 Best corrected visual acuity 0.8 LogMAR HP:0030561 Best corrected visual acuity 0.6 LogMAR HP:0030560 Best corrected visual acuity 0.7 LogMAR HP:0030559 Best corrected visual acuity 0.5 LogMAR HP:0030558 Best corrected visual acuity 0.4 LogMAR HP:0030557 Best corrected visual acuity 0.3 LogMAR HP:0030556 Best corrected visual acuity 0.2 LogMAR HP:0030555 Best corrected visual acuity 0.1 LogMAR HP:0030554 Visual acuity no light perception HP:0030553 Visual acuity light perception without projection HP:0030552 Visual acuity light perception with projection HP:0030551 Unaided visual acuity 3.0 LogMAR HP:0030550 Unaided visual acuity 2.0 LogMAR HP:0030549 Unaided visual acuity 1.3 LogMAR HP:0030548 Unaided visual acuity 1.2 LogMAR HP:0030547 Unaided visual acuity 1.1 LogMAR HP:0030546 Unaided visual acuity 1.0 LogMAR HP:0030545 Unaided visual acuity 0.9 LogMAR HP:0030544 Unaided visual acuity 0.8 LogMAR HP:0030543 Unaided visual acuity 0.7 LogMAR HP:0030542 Unaided visual acuity 0.6 LogMAR HP:0030541 Unaided visual acuity 0.5 LogMAR HP:0030540 Unaided visual acuity 0.4 LogMAR HP:0030539 Unaided visual acuity 0.3 LogMAR HP:0030538 Unaided visual acuity 0.2 LogMAR HP:0030537 Unaided visual acuity 0.1 LogMAR HP:0030536 Abnormal pinhole visual acuity test HP:0030535 Abnormal best corrected visual acuity test HP:0030534 Crossed asymmetry of flash visual evoked potentials HP:0030463 Asymmetrical distribution of flash visual evoked potentials HP:0030463 Abnormal amplitude of flash visual evoked potentials HP:0030462 Abnormal timing of flash visual evoked potentials HP:0030461 Abnormal timing of pattern reversal visual evoked potentials HP:0030460 Abnormal timing of pattern onset/offset visual evoked potentials HP:0030458 Abnormal amplitude of pattern onset/offset visual evoked potentials HP:0030457 Abnormal amplitude of pattern onset/offset VEP HP:0030457 Abnormality of pattern onset/offset visual evoked potentials HP:0030456 Abnormality of pattern onset/offset VEP HP:0030456 Abnormality of pattern visual evoked potentials HP:0030455 Abnormal electrooculogram HP:0030454 Abnormal EOG HP:0030454 Abnormal visual electrophysiology HP:0030453 Chylolymphatic mesenteric cyst HP:0030452 Mesenteric cyst HP:0030451 Neuroplasm of the autonomic nervous system HP:0030450 Therapeutic abortion HP:0030449 Soft tissue sarcomas HP:0030448 Soft tissue sarcoma HP:0030448 Primary undifferentiated carcinoma of the skin HP:0030447 Primary small cell carcinoma of the skin HP:0030447 Neuroendocrine tumor of the skin HP:0030447 Neuroendocrine carcinoma of the skin HP:0030447 Merkel cell skin cancer HP:0030447 Merkel cell cancer of the skin HP:0030447 Cutaneous APUDoma HP:0030447 Anaplastic carcinoma of the skin HP:0030447 Atypical pulmonary carcinoid tumor HP:0030446 Pulmonary carcinoid tumor HP:0030445 Lung carcinoid tumor HP:0030445 Anal margin melanoma HP:0030444 Anal margin basal cell carcinoma HP:0030443 Anal margin squamous cell carcinoma HP:0030442 Anal margin Paget's disease HP:0030441 Anal margin neoplasm HP:0030440 Anal canal adenocarcinoma HP:0030439 Anal canal squamous cell carcinoma HP:0030438 Anal canal neoplasm HP:0030437 Fibrofolliculomas HP:0030436 Fibrofolliculoma HP:0030436 Pilomatrixoma HP:0030434 Osteoid osteoma HP:0030433 Chondroblastoma HP:0030432 Osteochondromas HP:0030431 Osteochondroma HP:0030431 Neuroma HP:0030430 Juvenile nasopharyngeal angiofibroma HP:0030429 Cutaneous myxoma HP:0030428 Ossifying fibroma of the jaw HP:0030427 Ossifying fibroma HP:0030426 Calcified ovarian cyst HP:0030425 Epididymal cysts HP:0030424 Epididymal cyst HP:0030424 Splenic cyst HP:0030423 obsolete Papillary cystadenoma of the epididymis HP:0030422 Epididymal neoplasm HP:0030421 Vulvar adenocarcinoma HP:0030420 Bartholin gland carcinoma HP:0030419 Vulvar melanoma HP:0030418 Squamous cell carcinoma of the vulva HP:0030417 Vulvar neoplasm HP:0030416 Neoplasm of the vulva HP:0030416 Spindle cell carcinoma of the tongue HP:0030415 Sarcomatoid carcinoma of the tongue HP:0030415 Verrucous cell carcinoma of the tongue HP:0030414 Squamous cell carcinoma of the tongue HP:0030413 Ilial adenocarcinoma HP:0030412 Jejunal adenocarcinoma HP:0030411 Sebaceous gland carcinoma HP:0030410 Sebaceous carcinoma HP:0030410 transitional renal cell carcinoma HP:0030409 renal TCC HP:0030409 Renal urothelial carcinoma HP:0030409 Renal transitional cell carcinoma HP:0030409 Pineoblastoma HP:0030408 Pinealoblastoma HP:0030408 Pineocytoma HP:0030407 Primary peritoneal carcinoma HP:0030406 Pancreatic endocrine tumor HP:0030405 Glucagonoma HP:0030404 Spontaneous platelet aggregation HP:0030403 Abnormal platelet aggregation HP:0030402 Abnormal platelet dense granule ATP/ADP ratio HP:0030401 Abnormal platelet lysosome secretion HP:0030400 Abnormal platelet alpha granule secretion HP:0030399 Abnormal platelet ATP dense granule secretion HP:0030398 Abnormal platelet dense granule secretion HP:0030397 Abnormal platelet granule secretion HP:0030396 Fallopian tube carcinoma HP:0030394 Low-grade adenocarcinoma of endolymphatic sac origin HP:0030393 Heffner tumor HP:0030393 Endolymphatic sac tumor HP:0030393 Aggressive papillary middle ear tumor HP:0030393 Choroid plexus carcinoma HP:0030392 Spoken Word Recognition Deficit HP:0030391 Abnormality of leukotriene metabolism HP:0030390 Abnormality of thromboxane metabolism HP:0030389 Decreased class-switched memory B cell count HP:0030388 Increased class-switched memory B cell count HP:0030387 Abnormal class-switched memory B cell count HP:0030386 Increased marginal zone B cell count HP:0030385 Decreased marginal zone B cell count HP:0030384 Abnormal marginal zone B cell count HP:0030383 Increased transitional B cell count HP:0030381 Decreased transitional B cell count HP:0030380 Abnormal transitional B cell count HP:0030379 Decreased immature B cell count HP:0030378 Increased immature B cell count HP:0030377 Abnormal immature B cell count HP:0030376 Increased memory B cell count HP:0030375 Decreased memory B cell count HP:0030374 Abnormal memory B cell count HP:0030373 Decreased naive B cell count HP:0030372 Increased naive B cell count HP:0030371 Abnormal naive B cell count HP:0030370 Induced vaginal delivery HP:0030369 Hyperphalangy of the 2nd finger HP:0030368 Hyperphalangy of index finger HP:0030368 Finger hyperphalangy HP:0030367 Delivery by Odon device HP:0030366 Vaginal birth after Caesarian HP:0030365 Secondary Caesarian section HP:0030364 Primary Caesarian section HP:0030363 Reduced muscle carnitine level HP:0030362 Abnormality of icosanoid metabolism HP:0030361 Abnormality of eicosanoid metabolism HP:0030361 Large cell lung carcinoma HP:0030360 Squamous cell lung carcinoma HP:0030359 Non-small cell lung carcinoma HP:0030358 Non-small cell lung cancer HP:0030358 Small cell lung carcinoma HP:0030357 Small cell lung cancer HP:0030357 Oat cell lung cancer HP:0030357 Oat cell carcinoma of lung HP:0030357 Increased serum interferon-gamma level HP:0030356 Abnormal serum interferon-gamma level HP:0030355 Abnormal serum interferon level HP:0030354 Decreased serum insulin-like growth factor 1 HP:0030353 Abnormal serum insulin-like growth factor 1 level HP:0030352 Urticarial plaque HP:0030351 Erythematous papule HP:0030350 Decreased circulating androgen level HP:0030349 Increased circulating androgen level HP:0030348 Abnormal circulating androgen level HP:0030347 Abnormal circulating follicle-stimulating hormone level HP:0030346 Abnormal luteinizing hormone level HP:0030345 Abnormal circulating luteinizing hormone level HP:0030345 Decreased circulating luteinizing hormone level HP:0030344 Decreased circulating luteinising hormone level HP:0030344 Decreased circulating follicle stimulating hormone level HP:0030341 obsolete Increased circulating gonadotropin level HP:0030340 Decreased circulating gonadotropin level HP:0030339 Abnormal circulating gonadotropin level HP:0030338 Elevated CD4-positive, CD25-positive regulatory T cell count HP:0030337 Absence of CD4-positive, CD25-positive regulatory T cells HP:0030336 Absence of CD4+CD25+ T regulatory cells (Tregs) HP:0030336 Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count HP:0030335 Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology HP:0030334 Abnormal alpha-beta T cell morphology HP:0030333 Abnormal T cell morphology HP:0030332 Impaired stimulus-induced skin wrinkling HP:0030331 Multinucleated giant chondrocytes in epiphyseal cartilage HP:0030330 Retinal thinning HP:0030329 Decreased osteoclast count HP:0030328 Abnormal osteoclast count HP:0030327 Abnormal macrophage count HP:0030326 Cervicomedullary schisis HP:0030325 Bilateral vertebral artery hypoplasia HP:0030324 Unilateral vertebral artery hypoplasia HP:0030323 Vertebral artery hypoplasia HP:0030322 Abnormality of the vertebral artery HP:0030321 Increased intervertebral space HP:0030320 Weakness of facial musculature HP:0030319 Reduced facial muscle strength HP:0030319 Decreased facial muscle strength HP:0030319 Commissural cheilitis HP:0030318 Angular stomatitis HP:0030318 Angular cheilosis HP:0030318 Angular cheilitis HP:0030318 Periostosis HP:0030314 Abnormal periosteum morphology HP:0030313 Obliteration of the calvarial diploe HP:0030312 Lower extremity joint dislocation HP:0030311 Upper extremity joint dislocation HP:0030310 Flared distal fibular metaphysis HP:0030309 Flared distal tibial metaphysis HP:0030308 Flared lower limb metaphysis HP:0030307 11 thoracic vertebrae HP:0030306 Decreased number of vertebrae HP:0030305 Abnormal level of neopterin HP:0040206 Decreased CSF neopterin level HP:0040205 Elevated CSF neopterin level HP:0040204 Abnormal CSF neopterin level HP:0040203 Abnormal consumption behavior HP:0040202 Simultanapraxia HP:0040201 Negative chorea HP:0040200 Motor impersistence HP:0040200 Midface, flat HP:0040199 Flat midface HP:0040199 Thyroid cancer, nonmedullary HP:0040198 Nonmedullary thyroid carcinoma HP:0040198 Non-medullary thyroid carcinoma HP:0040198 Encephalomalacia HP:0040197 Cerebral softening HP:0040197 Mild microcephaly HP:0040196 Decreased head circumference HP:0040195 Increased head circumference HP:0040194 obsolete Pinealoblastoma HP:0040193 amine precursor uptake and decarboxylation tumours HP:0040192 APUdoma HP:0040192 Rectus femoris muscle atrophy HP:0040191 Atrophy of the rectus femoris muscles HP:0040191 White scaling skin HP:0040190 scaly skin HP:0040189 peeling skin HP:0040189 flaking skin HP:0040189 Scaling skin HP:0040189 Desquamation HP:0040189 Osteochondrosis HP:0040188 Neonatal sepsis HP:0040187 Maculopapular exanthema HP:0040186 Macrothrombocytopenia HP:0040185 Oral bleeding HP:0040184 Encopresis HP:0040183 Inappropriate sinus tachycardia HP:0040182 Dry lips HP:0040181 Chapped lips HP:0040181 Chapped lip HP:0040181 Hyperkeratosis pilaris HP:0040180 Decreased level of platelet-activating factor HP:0040179 Decreased level of PAF HP:0040179 Increased level of platelet-activating factor HP:0040178 Increased level of PAF HP:0040178 Abnormal level of platelet-activating factor HP:0040177 Abnormal level of PAF HP:0040177 Abnormal level of phospholipids HP:0040176 Platelet-activating factor acetylhydrolase deficiency HP:0040175 Abnormality of extrinsic muscle of tongue HP:0040174 Abnormality of the tongue muscle HP:0040173 Abnormality of occipitofrontalis muscle HP:0040172 Low serum testosterone levels HP:0040171 Low serum testosterone level HP:0040171 Decreased testosterone HP:0040171 Decreased serum testosterone levels HP:0040171 Decreased serum testosterone level HP:0040171 Abnormality of hair growth HP:0040170 Loose anagen hair HP:0040169 Seizures, partial, afebrile HP:0040168 Focal seizures, afebril HP:0040168 Facial papilloma HP:0040167 Abnormality of the periosteum HP:0040166 Periostitis HP:0040165 Periostalgia HP:0040165 Lipomas of upper lids HP:0040164 Lipomas of upper eyelids HP:0040164 Abnormal pelvis bone morphology HP:0040163 Orthokeratosis HP:0040162 Localized osteoporosis HP:0040161 Generalized osteoporosis HP:0040160 Abnormal spaced incisors HP:0040159 Short intermamillary distance HP:0040158 Abnormal intermamillary distance HP:0040157 Elevated urinary carboxylic acid HP:0040156 Elevated urinary 3-hydroxybutyric acid HP:0040155 Acne inversa HP:0040154 Epiblepharon of lower lid HP:0040151 Epiblepharon of upper lid HP:0040150 Woolly scalp hair HP:0040149 Cortical myoclonus HP:0040148 L-2-hydroxyglutaric acidemia HP:0040147 D-2-hydroxyglutaric acidemia HP:0040146 Dicarboxylic acidemia HP:0040145 L-2-hydroxyglutaric aciduria HP:0040144 Dystopic os odontoideum HP:0040143 5-oxoprolinase deficiency HP:0040142 Tardive dyskinesia HP:0040141 Degeneration of the striatum HP:0040140 Lipogranulomatosis HP:0040139 Mucinous histiocytosis HP:0040138 Histiocytosis, mucinous HP:0040138 Comodogenic acne HP:0040137 Abnormal transferrin saturation HP:0040135 Abnormal liver iron level HP:0040134 Abnormal hepatic iron concentration HP:0040134 Abnormal serum ferritin HP:0040133 Abnormal sensory nerve conduction velocity HP:0040132 Abnormal motor nerve conduction velocity HP:0040131 Abnormal serum iron HP:0040130 Nerve conduction abnormalities HP:0040129 Abnormal nerve conduction velocity HP:0040129 Abnormal nerve conduction velocities HP:0040129 Abnormal nerve conduction HP:0040129 Abnormal sweat electrolytes HP:0040128 Abnormal sweat homeostasis HP:0040127 Abnormal serum cobalamin (vitamin B12) HP:0040126 Abnormal serum cobalamin HP:0040126 Patent tuba eustachii HP:0040124 Open tuba eustachii HP:0040124 Impairment of the reflex of the tensor tympanii muscle HP:0040123 Impairment of the the acoustic reflex HP:0040122 Abnormality of the acoustic reflex HP:0040121 Abnormality of the reflex of the tensor tympanii muscle HP:0040120 Unilateral conductive hearing impairment HP:0040119 Stenosis of the Eustachian tube HP:0040118 Atresia of the Eustachian tube HP:0040117 Aplasia of the Eustachian tube HP:0040116 Abnormality of the Eustachian tube HP:0040115 Absence of the reflex of the tensor tympani muscle HP:0040114 Presbycusis HP:0040113 Old-aged sensorineural hearing impairment HP:0040113 Abnormal number of tubercles HP:0040112 Bilateral external ear deformity HP:0040111 Morphological abnormality of the saccule HP:0040110 Morphological abnormality of the utricle HP:0040109 Morphological abnormality of the anterior semicircular canal HP:0040108 Morphological abnormality of the posterior semicircular canal HP:0040107 Morphological abnormality of the lateral semicircular canal HP:0040106 Morphological abnormality of the horizontal semicircular canal HP:0040106 Osseous stenosis of the external auditory canal HP:0040104 Cutaneous stenosis of the external auditory canal HP:0040103 Osseous atresia of the external auditory canal HP:0040102 Cutaneous atresia of the external auditory canal HP:0040101 Abnormality of the vestibular window HP:0040100 Abnormality of the oval window HP:0040100 Abnormality of the round window HP:0040099 Basalioma of the outer ear HP:0040098 Neoplasm of the ceruminal gland HP:0040097 Ceruminous adenoma HP:0040097 Ceruminoma HP:0040097 Adenoma of the ceruminous gland HP:0040097 Neoplasm of the inner ear HP:0040096 Neoplasm of the outer ear HP:0040095 Asymmetry of the position of the ears HP:0040093 Asymmetry of the shape of the ears HP:0040092 Asymmetry of the size of ears HP:0040091 Abnormality of the tympanic membrane HP:0040090 Abnormality of natural killer cell number HP:0040089 Abnormality of natural killer cell count HP:0040089 Abnormal number of natural killer cells HP:0040089 Abnormality of lymphocyte number HP:0040088 Abnormal numbers of lymphocytes HP:0040088 Abnormal number of lymphocytes HP:0040088 Abnormal lymphocyte counts HP:0040088 Abnormal lymphocyte count HP:0040088 Abnormality of folate in blood HP:0040087 Abnormal serum folate HP:0040087 Abnormal prolactin level HP:0040086 Abnormal plasma aldosterone HP:0040085 Abnormal circulating aldosterone HP:0040085 Abnormal plasma renin HP:0040084 Abnormal circulating renin HP:0040084 Toe-walking HP:0040083 Toe walking HP:0040083 Happy demeanor HP:0040082 Abnormal levels of creatine kinase in blood HP:0040081 Anteverted ears HP:0040080 Irregular dentition HP:0040079 Axonal degeneration HP:0040078 Abnormal concentration of calcium in blood HP:0040077 Hypopituitarism HP:0040075 Abnormal morphology of forearm bone HP:0040073 Abnormality of forearm bone HP:0040072 Abnormal morphology of ulna HP:0040071 Abnormality of upper limb bone HP:0040070 Abnormality of lower limb bone HP:0040069 Abnormality of limb bone HP:0040068 Abnormal morphology of bones of the lower limbs HP:0040066 Abnormal morphology of bones of the upper limbs HP:0040065 Dysmelia HP:0040064 Abnormality of limbs HP:0040064 Abnormal limbs HP:0040064 Decreased adipose tissue HP:0040063 Slender radius HP:0040062 Osteosclerosis of the radius HP:0040061 Calcification of ribs HP:0040059 Abnormality of nasal hair HP:0040057 Absent upper eyelashes HP:0040056 Short lower eyelashes HP:0040055 Short upper eyelashes HP:0040054 Abnormal number of vertebrae HP:0030304 Hypoplastic anterior commissure HP:0030303 Agenesis of the anterior commissure HP:0030302 Abnormality of the anterior commissure HP:0030301 10 pairs of ribs HP:0030300 Distal femoral metaphyseal abnormality HP:0030299 Metaphyseal chondromatosis of humerus HP:0030298 Metaphyseal chondromatosis of ulna HP:0030297 Metaphyseal chondromatosis of radius HP:0030296 Metaphyseal chondromatosis of femur HP:0030295 Metaphyseal chondromatosis of tibia HP:0030294 Fibular metaphyseal irregularity HP:0030293 Tibial metaphyseal irregularity HP:0030292 Lower-limb metaphyseal irregularity HP:0030291 Unossified sacrum HP:0030290 Flattened femoral epiphysis HP:0030289 Atrophic superior cerebellar peduncle HP:0030286 Splayed superior cerebellar peduncle HP:0030285 Triangular tongue HP:0030284 Partial absence of the septum pellucidum HP:0030283 Posterior rib gap HP:0030282 Cervical vertebral fusion (C3/C4) HP:0030281 Rib gap HP:0030280 Hypoplastic L5 vertebral pedicle HP:0030279 Hypoplastic vertebral pedicle HP:0030278 Abnormal vertebral pedicle morphology HP:0030277 Accessory scrotum HP:0030274 Reduced red cell adenosine deaminase activity HP:0030273 Abnormal erythrocyte enzyme activity HP:0030272 Reduced erythrocyte 2,3-diphosphoglycerate concentration HP:0030271 Elevated red cell adenosine deaminase activity HP:0030270 Increased serum insulin-like growth factor 1 {comment="HPO:probinson"} HP:0030269 Increased serum IGF1 HP:0030269 Elevated serum IGF1 HP:0030269 Hyperplastic callus formation HP:0030268 Calcification of the interosseus membrane of the forearm HP:0030267 Abnormality of the sacroiliac notch HP:0030266 Wide penis HP:0030265 Webbed penis HP:0030264 Torsion of the penis HP:0030263 Narrow penis HP:0030262 Aphallia HP:0030261 Absent penis HP:0030261 Microphallus HP:0030260 Hypopigmented genitalia HP:0030259 Penile melanosis HP:0030258 Hyperpigmented genitalia HP:0030258 Genitalia, ephelides HP:0030257 Freckled genitalia HP:0030257 Small intestinal polyposis HP:0030256 Large intestinal polyposis HP:0030255 Nail bed hemorrhage HP:0030254 Defective T cell proliferation HP:0030253 Absence of mature B cells HP:0030252 Absence of memory B cells HP:0030251 Pulmonary granulomatosis HP:0030250 Enanthema HP:0030249 Mesenteric venous thrombosis HP:0030248 Splanchnic vein thrombosis HP:0030247 Maternal first trimester fever HP:0030246 Intrapartum fever HP:0030245 Maternal fever in pregnancy HP:0030244 Maternal fever during pregnancy HP:0030244 Hepatic vein thrombosis HP:0030243 Portal vein thrombosis HP:0030242 Hypoplasia of deltoid muscle HP:0030241 Deltoid muscle hypoplasia HP:0030241 Hypoplasia of the upper arm musculature HP:0030239 Hand muscle weakness HP:0030237 Abnormality of muscle size HP:0030236 Extremely elevated creatine phosphokinase HP:0030235 Highly elevated creatine phosphokinase HP:0030234 Bethlem sign HP:0030233 Bethlem phenomenon HP:0030233 Increased sarcoplasmic glycogen HP:0030232 Glycogen accumulation in muscle fiber lysosomes HP:0030231 Central core regions in muscle fibers HP:0030230 Accumulation of muscle fiber valosin-containing protein HP:0030229 Abnormal muscle fiber valosin-containing protein HP:0030228 Accumulation of muscle fiber myotilin HP:0030227 Abnormal muscle fiber myotilin HP:0030226 Muscle fiber desmin-reactive inclusion bodies HP:0030225 Accumulation of muscle fiber desmin HP:0030225 Abnormal muscle fiber desmin HP:0030224 Perseverative behaviour HP:0030223 Perseverative behavior HP:0030223 Perseveration HP:0030223 Visual agnosia HP:0030222 Sweet craving HP:0030221 Socially inappropriate behavior HP:0030220 Semantic dementia HP:0030219 Punding HP:0030218 Limb apraxia HP:0030217 Inertia HP:0030216 Inappropriate crying HP:0030215 Hypersexuality HP:0030214 Emotional blunting HP:0030213 Compulsive hoarding HP:0030212 Collectionism HP:0030212 Slow pupillary light response HP:0030211 Muscle specific kinase antibody positivity HP:0030210 Anti-MUSK antibodies HP:0030210 Calcium channel antibody positivity HP:0030209 Acetylcholine receptor antibody positivity HP:0030208 Paradoxical respiration HP:0030207 Paradoxical breathing HP:0030207 Flail chest HP:0030207 EMG: incremental response of compound muscle action potential to repetitive nerve stimulation HP:0030206 Increased jitter at single fibre electromyography HP:0030205 Increased jitter at single fibre EMG HP:0030205 Unfavorable response of muscle weakness to acetylcholine esterase inhibitors HP:0030203 Favorable response of weakness to acetylcholine esterase inhibitors HP:0030202 Response to drugs acting on neuromuscular transmission HP:0030201 Fatiguable weakness of proximal limb muscles HP:0030200 Fatigable weakness of neck muscles HP:0030199 Fatigable weakness of distal limb muscles HP:0030198 Fatigable weakness of skeletal muscles HP:0030197 Fatigable weakness of respiratory muscles HP:0030196 Fatigable weakness of swallowing muscles HP:0030195 Fatigable weakness of speech muscles HP:0030194 Fatigable weakness of chewing muscles HP:0030193 Fatigable weakness of bulbar muscles HP:0030192 Abnormal peripheral nervous system synaptic transmission HP:0030191 Abnormal PNS synaptic transmission HP:0030191 Oral motor hypotonia HP:0030190 Tremor by anatomical site HP:0030188 Titubation HP:0030187 Kinetic tremor HP:0030186 Isometric tremor HP:0030185 Visually enhanced vestibulo-ocular reflex impairment HP:0030183 VVOR impairment HP:0030183 Impaired visually enhanced vestibulo-ocular reflex HP:0030183 Tetraplegia/tetraparesis HP:0030182 Gordon sign HP:0030181 Gordon reflex HP:0030181 Oppenheim sign HP:0030180 Oppenheim reflex HP:0030180 Abnormal peripheral action potential amplitude HP:0030179 Abnormality of central nervous system electrophysiology HP:0030178 Abnormality of peripheral nervous system electrophysiology HP:0030177 Abnormal nerve conduction study HP:0030177 Asymmetric peripheral demyelination HP:0030176 Tomacula HP:0030175 Myelin tomacula HP:0030175 Increased peripheral myelin thickness HP:0030174 Peripheral hypermyelination HP:0030173 Increased peripheral myelination HP:0030173 Peripheral amyelination HP:0030172 Perirenal hematoma HP:0030171 Cystic artery pseudoaneurysm HP:0030170 Gastric varix HP:0030169 Gastric varices HP:0030169 Dilated superficial abdominal veins HP:0030168 Dilatation of the superficial abdominal veins HP:0030168 Serum antimitochrondrial antibodies HP:0030167 Antimitochondrial antibody positivity HP:0030167 Nocturnal hyperhidrosis HP:0030166 Night sweats HP:0030166 Temporal artery tortuosity HP:0030165 Jaw claudication HP:0030164 Abnormal vascular physiology HP:0030163 Glomerulomegaly HP:0030162 Vaginal pruritus HP:0030161 Uterine cervicitis HP:0030160 Cervicitis HP:0030160 Cervical polyp HP:0030159 Cervical erosion HP:0030158 Cervical ectropion HP:0030158 Cervical ectopy HP:0030158 Flank pain HP:0030157 Bence Jones Proteinuria HP:0030156 Scrotal pain HP:0030155 Gallbladder perforation HP:0030154 Gall bladder perforation HP:0030154 Cholangiocarcinoma HP:0030153 obsolete Biliary tract neoplasm HP:0030152 Cholangitis HP:0030151 Plasmacytosis HP:0030150 Cardiovascular shock HP:0030149 Cardiogenic shock HP:0030149 Heart murmurs HP:0030148 Heart murmur HP:0030148 Cardiac murmurs HP:0030148 Cardiac murmur HP:0030148 Truncal titubation HP:0030147 Abnormal liver parenchyma morphology HP:0030146 Lack of bowel sounds HP:0030145 Hypoactive bowel sounds HP:0030144 Hyperactive bowel sounds HP:0030143 Abnormal bowel sounds HP:0030142 Abnormality of the posterior hairline HP:0030141 Oral cavity bleeding HP:0030140 Excessive bleeding after a venipuncture HP:0030139 Excessive bleeding from superficial cuts HP:0030138 Prolonged bleeding following circumcision HP:0030137 Enhanced ristocetin cofactor assay activity HP:0030136 Absence of intermediate von Willibrand factor multimers HP:0030135 Total absence von Willebrand Factor multimers HP:0030134 Abnormal presence of ultra-large von Willebrand Factor multimers HP:0030133 Absence of large von Willibrand factor multimers HP:0030132 Abnormal von Willebrand Factor multimer distribution HP:0030131 Impaired von Willibrand factor collagen binding activity HP:0030130 Impaired ristocetin cofactor assay activity HP:0030129 Endometriosis HP:0030127 Abnormality of the endometrium HP:0030126 Sacralization of the fifth lumbar vertebra HP:0030125 L5 sacralization HP:0030125 Reduced muscle fiber lamin A/C HP:0030124 Abnormal muscle fiber lamin A/C HP:0030123 Reduced muscle fiber perlecan HP:0030122 Reduced muscle fiber calpain-3 HP:0030121 Absent muscle fiber calpain-3 HP:0030120 Abnormal muscle fiber calpain-3 HP:0030119 Reduced muscle fiber emerin HP:0030118 Absent muscle fiber emerin HP:0030117 Abnormal muscle fiber emerin HP:0030116 Decreased DLCO HP:0045051 Increased diffusing capacity HP:0045050 Increased DLCO HP:0045050 Abnormal transfer factor of the lung for carbon monoxide HP:0045049 Abnormal diffusing capacity HP:0045049 Abnormal TLCO HP:0045049 Abnormal DLCO HP:0045049 Increased HbA2 hemoglobin HP:0045048 HbS hemoglobin HP:0045047 acid-labile subunit deficiency HP:0045046 Decreased levels of acid labile subunit HP:0045046 Elevated plasma acylcarnitine levels HP:0045045 Decreased serum complement C4b HP:0045044 Complement component 4B deficiency HP:0045044 C4b deficiency HP:0045044 Decreased serum complement C4a HP:0045043 Decreased serum complement C4 HP:0045042 Lactate dehydrogenase B deficiency HP:0045041 Abnormal lactate dehydrogenase activity HP:0045040 Osteolysis involving bones of the upper limbs HP:0045039 Primary gastric lymphoma HP:0045038 Gastric lymphoma HP:0045038 Abnormality of jaw muscles HP:0045037 Abnormal urinary copper concentration HP:0045036 Decreased urinary copper concentration HP:0045035 Elevated urinary aminoisobutyric acid HP:0045034 Eosinophilic fasciitis HP:0045029 Type III lissencephaly HP:0045028 Lissencephaly type III HP:0045028 Abnormality of the thoracic cavity HP:0045027 Abnormality of the mediastinum HP:0045026 Small palpebral fissures HP:0045025 Small palpebral fissure HP:0045025 Partial duplication of eyebrows HP:0045018 Congenital malformation of the left heart HP:0045017 Increased serum long-chain fatty acids HP:0045016 Elevated serum long-chain fatty acids HP:0045016 Hypolipidemia HP:0045014 Decreased urinary glucose concentration HP:0045013 Decreased urinary catecholamine concentration HP:0045012 Decreased urine bicarbonate concentration HP:0045011 Abnormality of peripheral nerves HP:0045010 Abnormal morphology of the radius HP:0045009 Abnormal shape of the radius HP:0045008 Abnormality of the substantia nigra HP:0045007 Aplasia of lymphatic vessels HP:0045006 Abnormality of neural tube closure HP:0045005 Abnormal ossification of the trapezoid bone HP:0045004 Abnormal ossification of the scaphoid HP:0045003 Absent ossification of the trapezium HP:0045002 Abnormal ossification of the trapezium HP:0045001 Absent natural killer cells HP:0040219 Reduced natural killer cell number HP:0040218 Increased HbA1c levels HP:0040217 Hypoinsulinemia HP:0040216 Abnormal circulating insulin level HP:0040215 Abnormal insulin level HP:0040214 Hypopnea HP:0040213 Risus sardonicus HP:0040212 Rictus grin HP:0040212 Abnormality of the skin of the palm HP:0040211 Abnormal level of biopterin HP:0040210 Decreased CSF biopterin level HP:0040209 Elevated CSF biopterin level HP:0040208 Abnormal CSF biopterin level HP:0040207 Abnormal unaided visual acuity test HP:0030533 Visual acuity test abnormality HP:0030532 Altitudinal visual field defect HP:0030531 Arcuate scotoma HP:0030530 Ring scotoma HP:0030529 Paracentral scotoma HP:0030528 Peripheral visual field constriction with <10 degrees central field preserved HP:0030527 Peripheral visual field constriction with 10-20 degrees central field preserved HP:0030526 Peripheral visual field constriction with 20-30 degrees central field preserved HP:0030525 Peripheral visual field constriction with 30-40 degrees central field preserved HP:0030524 Peripheral visual field constriction with 40-50 degrees central field preserved HP:0030523 Peripheral visual field constriction with >50 degrees central field preserved HP:0030522 Bitemporal hemianopia HP:0030521 Binasal hemianopia HP:0030520 Congruous heteronymous hemianopia HP:0030519 Congruous homonymous hemianopia HP:0030518 Congruous hemianopsia HP:0030518 Heteronymous hemianopsia HP:0030517 Heteronymous hemianopia HP:0030517 Homonymous hemianopsia HP:0030516 Homonymous hemianopia HP:0030516 Moderate visual impairment HP:0030515 Difficulty adjusting from dark to light HP:0030514 Difficulty adjusting from light to dark HP:0030513 Difficulty adjusting to changes in luminance HP:0030512 Bradyopsia HP:0030511 Combined hamartoma of the retinal pigment epithelium and retina HP:0030510 Retinal racemose hemangioma HP:0030509 Retinal racemose haemangioma HP:0030509 Retinal cavernous hemangioma HP:0030508 Retinal cavernous haemangioma HP:0030508 Retinal crystals HP:0030507 Yellow/white lesions of the retina HP:0030506 Nummular pigmentation of the retina HP:0030505 Grouped congenital hypertrophy of retinal pigment epithelium HP:0030504 Bear track congenital hypertrophy of retinal pigment epithelium HP:0030504 Parafoveal telangiectasia HP:0030503 Macular telangiectasia HP:0030503 Juxtafoveal telangiectasia HP:0030503 Retinoschisis HP:0030502 Macular crystals HP:0030501 Yellow/white lesions of the macula HP:0030500 Macular drusen HP:0030499 Macular thickening HP:0030498 Macular cotton wool spots HP:0030497 Macular exudation HP:0030496 Abnormality of macular vasculature HP:0030495 Macular microaneurysm/hemorrhage HP:0030494 Abnormality of foveal pigmentation HP:0030493 Choriocapillaris atrophy HP:0030491 Exudative vitreoretinopathy HP:0030490 Abnormal paracentral response of multifocal electroretinogram HP:0030489 Abnormal central response of multifocal electroretinogram HP:0030488 Abnormal P50/N95 ratio of pattern electroretinogram HP:0030487 Abnormal timing of pattern electroretinogram HP:0030486 Abnormal amplitude of pattern electroretinogram HP:0030485 Supernormal dark-adapted bright flash electroretinogram b-wave HP:0030484 Reduced amplitude of dark-adapted bright flash electroretinogram a-wave HP:0030483 Abnormal timing of light-adapted single flash electroretinogram HP:0030482 Abnormal amplitude of light-adapted single flash electroretinogram HP:0030481 Abnormal timing of light-adapted flicker electroretinogram HP:0030480 Abnormal amplitude of light-adapted flicker electroretinogram HP:0030479 Abnormal amplitude of dark-adapted bright flash electroretinogram HP:0030478 Abnormal timing of dark-adapted bright flash electroretinogram HP:0030477 Abnormal amplitude of dark-adapted dim flash electroretinogram HP:0030476 Abnormal timing of dark-adapted dim flash electroretinogram HP:0030475 Undetectable dark-adapted electroretinogram HP:0030474 Abnormal light-adapted flicker electroretinogram HP:0030473 Abnormal light-adapted single flash electroretinogram HP:0030472 Abnormal dark-adapted dim flash electroretinogram HP:0030471 Abnormal dark-adapted bright flash electroretinogram HP:0030470 Abnormal dark-adapted electroretinogram HP:0030469 Abnormal multifocal electroretinogram HP:0030468 Abnormal pattern electroretinogram HP:0030467 Abnormal full-field electroretinogram HP:0030466 Undetectable light-adapted electroretinogram HP:0030465 Crossed asymmetry of pattern reversal visual evoked potentials HP:0030464 Asymmetrical distribution of pattern reversal visual evoked potentials HP:0030464 Reduced muscle fiber dysferlin HP:0030115 Absent muscle fiber dysferlin HP:0030114 Abnormal muscle fiber dysferlin HP:0030113 Abnormal muscle fiber alpha dystroglycan HP:0030112 Reduced muscle fiber delta sarcoglycan HP:0030111 Absent muscle fiber delta sarcoglycan HP:0030110 Absent muscle fiber gamma sarcoglycan HP:0030109 Reduced muscle fiber gamma sarcoglycan HP:0030108 Reduced muscle fiber beta sarcoglycan HP:0030107 Absent muscle fiber beta sarcoglyan HP:0030106 Abnormal muscle fiber delta sarcoglycan HP:0030105 Abnormal muscle fiber gamma sarcoglycan HP:0030104 Abnormal muscle fiber beta sarcoglycan HP:0030103 Reduced muscle fiber alpha sarcoglycan HP:0030102 Absent muscle fiber alpha sarcoglycan HP:0030101 Abnormal muscle fiber alpha sarcoglycan HP:0030100 Reduced muscle fiber alpha dystroglycan HP:0030099 Reduced muscle dystrophin expression HP:0030098 Reduced dystrophin staining in muscle HP:0030098 Absent muscle dystrophin expression HP:0030097 Abnormal muscle fiber dystrophin expression HP:0030096 Reduced muscle collagen VI HP:0030095 Reduced collagen 6 in muscle HP:0030095 Reduced muscle fiber laminin beta 1 HP:0030094 Abnormal muscle fiber laminin beta 1 HP:0030093 Reduced muscle fiber merosin HP:0030092 Sickled erythrocytes HP:0030058 Autoimmune antibody positivity HP:0030057 Uncombable hair HP:0030056 Hyperconvex toenail HP:0030055 Perifollicular fibrosis HP:0030054 Stiff skin HP:0030053 Inguinal freckling HP:0030052 Walking on tiptoes HP:0030051 Tip-toe gait HP:0030051 Narcolepsy HP:0030050 Brain abscess HP:0030049 Colpocephaly HP:0030048 Abnormality of lateral ventricle HP:0030047 Hypoglycosylation of alpha-dystroglycan HP:0030046 Serpentine fibula HP:0030045 Flexion contracture of digit HP:0030044 Hip Subluxation HP:0030043 Incomplete ossification of pubis HP:0030042 Schmorl's nodes HP:0030041 Schmorl's node HP:0030041 Fused lumbar vertebrae HP:0030040 Fused thoracic vertebrae HP:0030039 Enchondroma HP:0030038 Bifid ureter HP:0030037 Isothenuria HP:0030036 Struvite nephrolithiasis HP:0030035 Struvite kidney stones HP:0030035 Diffuse lamellation of the glomerular basement membrane HP:0030034 Diffuse glomerular basement membrane lamellation HP:0030034 Small finger HP:0030033 Partial absence of foot HP:0030032 Small toe HP:0030031 Absent ray HP:0030030 Spreading of the fingers HP:0030029 Splayed fingers HP:0030029 Absent nasal cartilage HP:0030028 Abnormality of the nasal cartilage HP:0030027 Squared superior portion of helix HP:0030026 Auricular pit HP:0030025 Pretragal ectopia HP:0030024 Pretragal Duplication HP:0030024 Accessory Tragus HP:0030024 Quelprud Nodule HP:0030023 Question mark ears HP:0030022 Question mark ear HP:0030022 Cosman Ear HP:0030022 Constricted Ear HP:0030022 Auricular tag HP:0030021 Increased female libido HP:0030019 Decreased female libido HP:0030018 Vaginismus HP:0030017 Dyspareunia HP:0030016 Female orgasmic disorder HP:0030015 Female anorgasmia HP:0030015 Female sexual dysfunction HP:0030014 obsolete Endometriosis HP:0030013 Abnormal female reproductive system physiology HP:0030012 Abnormal female genital system physiology HP:0030012 Imperforate hymen HP:0030011 Hydrometrocolpos HP:0030010 Incompetent cervix HP:0030009 Cervical insufficiency HP:0030009 Cervical aplasia HP:0030008 Cervical agenesis HP:0030008 Aplasia of the cervix HP:0030008 EMG: Positive sharp waves HP:0030007 Single fiber EMG abnormality HP:0030006 Systemic capillary leak syndrome HP:0030005 Increased capillary permeability HP:0030005 Capillary leak HP:0030005 Cicatricial lagophthalmos HP:0030004 Paralytic lagophthalmos HP:0030003 Nocturnal lagophthalmos HP:0030002 Lagopthalmos HP:0030001 EMG: Repetitive nerve stimulation abnormality HP:0030000 Ciliary body coloboma HP:0020006 Euryblepharon HP:0012905 Cold-sensitive myotonia HP:0012904 Myotonia of the upper limb HP:0012903 Myotonia of the lower limb HP:0012902 Myotonia of the jaw HP:0012901 Myotonia of the face HP:0012900 Handgrip myotonia HP:0012899 Grip myotonia HP:0012899 Abnormal motor evoked potentials in the lower limb HP:0012898 Abnormal lower-limb motor evoked potentials HP:0012898 Abnormal upper-limb motor evoked potentials HP:0012897 Abnormal motor evoked potentials in the upper limb HP:0012897 Abnormal motor evoked potentials HP:0012896 Scapular muscle hypertrophy HP:0012895 Paraspinal muscle hypertrophy HP:0012894 Neck muscle hypertrophy HP:0012893 Facial muscle hypertrophy HP:0012892 High posterior hairline HP:0012891 Posteriorly placed anus HP:0012890 Cervical endometriosis HP:0012889 Abnormality of the uterine cervix HP:0012888 Serous ovarian cyst HP:0012887 Ovarian serous cystadenoma HP:0012887 Hemorrhagic ovarian cyst HP:0012886 Fallopian tube duplication HP:0012885 Accessory fallopian tube HP:0012885 Fallopian tube torsion HP:0012884 Fallopian tube cyst HP:0012883 Hyperplastic labia majora HP:0012882 Hyperplasia of labia majora HP:0012882 Enlarged labia majora HP:0012882 Abnormality of the labia majora HP:0012881 Abnormality of the labia minora HP:0012880 Ejaculatory incompetence HP:0012879 Anejaculation HP:0012879 Retarded ejaculation HP:0012878 Delayed ejaculation HP:0012878 Retrograde ejaculation HP:0012877 Premature ejaculation HP:0012876 Abnormal ejaculation HP:0012875 Abnormal male reproductive system physiology HP:0012874 Abnormal male genital system physiology HP:0012874 Congenital absence of the vas deferens HP:0012873 Absent vas deferens HP:0012873 Abnormal vas deferens morphology HP:0012872 Varicocele HP:0012871 Vaginal varicocele HP:0012871 Vanishing testis HP:0012870 Testicular regression syndrome HP:0012870 Acephalic spermatozoa HP:0012869 Sperm tail anomaly HP:0012868 Sperm mid-piece anomaly HP:0012867 Sperm neck anomaly HP:0012866 Sperm head anomaly HP:0012865 Teratozoospermia HP:0012864 Teratospermia HP:0012864 Abnormal sperm morphology HP:0012864 Abnormal male germ cell morphology HP:0012863 Abnormal germ cell morphology HP:0012862 Ovotestis HP:0012861 Testicular fibrosis HP:0012860 Fibrotic testicle HP:0012860 Fibrotic testes HP:0012860 Esophageal leukoplakia HP:0012859 Esophageal epidermoid metaplasia HP:0012859 Decreased scrotal rugation HP:0012858 Increased scrotal rugation HP:0012857 Abnormal scrotal rugation HP:0012856 Scrotal hyperpigmentation HP:0012855 Hyperpigmented scrotum HP:0012855 Hyperpigmentation of the scrotum HP:0012855 Midshaft hypospadias HP:0012854 Scrotal hypospadias HP:0012853 Hepatic bridging fibrosis HP:0012852 Stenosis of the colon HP:0012851 Colonic stenosis HP:0012851 Small intestinal dysmotility HP:0012850 Small intestinal hemorrhage HP:0012849 Small intestinal bleeding HP:0012849 Small intestinal stenosis HP:0012848 Epilepsia partialis continua HP:0012847 Multiple trichilemmomata HP:0012846 Multiple trichilemmomas HP:0012846 Single trichilemmoma HP:0012845 Tricholemmoma HP:0012844 Trichilemmoma HP:0012844 Hair follicle neoplasm HP:0012843 Skin adnexal tumor HP:0012842 Skin adnexal neoplasm HP:0012842 Tortuous retinal vessels HP:0012841 Retinal vascular tortuosity HP:0012841 Proximal HP:0012840 Distal HP:0012839 Localized HP:0012838 Localised HP:0012838 Generalized HP:0012837 Generalised HP:0012837 Spatial pattern HP:0012836 Left-sided HP:0012835 Left HP:0012835 Right-sided HP:0012834 Right HP:0012834 Unilateral HP:0012833 Bilateral HP:0012832 Laterality HP:0012831 Position HP:0012830 Profound HP:0012829 Severe HP:0012828 Borderline HP:0012827 Moderate HP:0012826 Mild HP:0012825 Severity HP:0012824 Intensity HP:0012824 Phenotypic modifier HP:0012823 Underdeveloped scrotum HP:0030276 Small scrotum HP:0030276 Ectopic scrotum HP:0030275 Clinical modifier HP:0012823 Bilateral vocal cord paresis HP:0012822 Unilateral vocal cord paresis HP:0012821 Bilateral vocal cord paralysis HP:0012820 Myocarditis HP:0012819 Biventricular noncompaction cardiomyopathy HP:0012818 Spongiform cardiomyopathy HP:0012817 Noncompaction of the ventricular myocardium HP:0012817 Noncompaction cardiomyopathy HP:0012817 Right ventricular noncompaction cardiomyopathy HP:0012816 Hypoplastic female external genitalia HP:0012815 Bilateral breast hypoplasia HP:0012814 Unilateral breast hypoplasia HP:0012813 Paranasal fullness HP:0012812 Laterally built up nose HP:0012812 Fullness of paranasal tissue HP:0012812 Wide nasal ridge HP:0012811 Broad nasal ridge HP:0012811 Wide nasal base HP:0012810 Broad nasal base HP:0012810 Narrow nasal base HP:0012809 Abnormal nasal base HP:0012808 High insertion of columella HP:0012807 Columella, high insertion HP:0012807 Proboscis HP:0012806 Iris transillumination defect HP:0012805 CSF polymorphonuclear pleocytosis HP:0012756 Enlarged brainstem HP:0012755 CNS hypermyelination HP:0012754 T2 hypointense basal ganglia HP:0012753 Focal T2 hypointense basal ganglia lesion HP:0012752 Abnormal basal ganglia MRI signal intensity HP:0012751 T2 hypointense brainstem HP:0012750 Focal T2 hypointense brainstem lesion HP:0012749 Focal T2 hyperintense brainstem lesion HP:0012748 Abnormal brainstem MRI signal intensity HP:0012747 Thin toenails HP:0012746 Thin toenail HP:0012746 Short palpebral fissures HP:0012745 Short palpebral fissure HP:0012745 Femoral aplasia HP:0012744 Absent femur HP:0012744 Central obesity HP:0012743 Abdominal obesity HP:0012743 Thin fingernail HP:0012742 Unilateral cryptorchidism HP:0012741 Cryptorchidism, unilateral HP:0012741 Papilloma HP:0012740 Small bowel agenesis HP:0012739 Agenesis of the small intestine HP:0012739 Agenesis of canine HP:0012738 Absent canines HP:0012738 Small intestinal polyp HP:0012737 Psychomotor retardation, profound HP:0012736 Profound global developmental delay HP:0012736 Coughing HP:0012735 Cough HP:0012735 Ketotic hypoglycemia HP:0012734 Macule HP:0012733 Anorectal anomaly HP:0012732 Ectopic anterior pituitary gland HP:0012731 Aglossia HP:0012730 Absence of tongue HP:0012730 Saccular descending thoracic aortic aneurysm HP:0012729 Fusiform descending thoracic aortic aneurysm HP:0012728 Thoracic aortic aneurysm HP:0012727 Episodic hypokalemia HP:0012726 Syndactyly, cutaneous HP:0012725 Cutaneous syndactyly of digits HP:0012725 Cutaneous syndactyly HP:0012725 Upper eyelid edema HP:0012724 Swelling of upper eyelid HP:0012724 Fullness of upper eyelid HP:0012724 Sinoatrial block HP:0012723 Heart block HP:0012722 Venous malformations HP:0012721 Venous malformation HP:0012721 Nose cancer HP:0012720 Neoplasm of the nose HP:0012720 Neoplasia of the nose HP:0012720 Nasal neoplasm HP:0012720 Functional abnormality of the gastrointestinal tract HP:0012719 Morphological anomaly of the digestive system HP:0012718 Morphological abnormality of the gastrointestinal tract HP:0012718 Severe conductive hearing impairment HP:0012717 Conductive hearing loss, severe HP:0012717 Moderate conductive hearing impairment HP:0012716 Conductive hearing loss, moderate HP:0012716 Profound hearing impairment HP:0012715 Severe hearing impairment HP:0012714 Moderate hearing impairment HP:0012713 Mild hearing impairment HP:0012712 Delayed ossification of vertebral epiphysis HP:0012711 Ingrown nail HP:0012710 Abnormal brain choline/creatine ratio by MRS HP:0012709 Reduced brain N-acetyl aspartate level by MRS HP:0012708 Elevated brain lactate level by MRS HP:0012707 Elevated brain choline level by MRS HP:0012706 Abnormal metabolic brain imaging by MRS HP:0012705 Widened subarachnoid spaces HP:0012704 Widened subarachnoid space HP:0012704 Enlarged subarachnoid space HP:0012704 Abnormality of the subarachnoid space HP:0012703 Tenesmus HP:0012702 Fecal urgency HP:0012701 Bowel urgency HP:0012701 Abnormal large intestine physiology HP:0012700 Anomaly of lower limb diaphyses HP:0012699 Cerebellar gliosis HP:0012698 Small basal ganglia HP:0012697 Abnormal thalamic MRI signal intensity HP:0012696 Decreased thalamic volume HP:0012695 Enlarged thalamic volume HP:0012694 Abnormal thalamic size HP:0012693 Focal T2 hyperintense thalamic lesion HP:0012692 Focal T2 hypointense thalamic lesion HP:0012691 T2 hypointense thalamus HP:0012690 Abnormal pineal melatonin secretion HP:0012689 Abnormality of pineal physiology HP:0012688 Agenesis of pineal gland HP:0012687 Increased pineal volume HP:0012686 Decreased pineal volume HP:0012685 Abnormal pineal volume HP:0012684 Pineal cyst HP:0012683 Pineal gland calcification HP:0012682 Abnormality of pineal morphology HP:0012681 Abnormality of the pineal gland HP:0012680 Widened interpedicular distance HP:0012679 Iron accumulation in substantia nigra HP:0012678 Iron accumulation in globus pallidus HP:0012677 Copper accumulation in brain HP:0012676 Iron accumulation in brain HP:0012675 Brain iron deposition HP:0012675 Aplasia of the lower vagina HP:0012674 Agenesis of the lower vagina HP:0012674 Aplasia of the upper vagina HP:0012673 Akinetic mutism HP:0012672 Abulia HP:0012671 Aboulia HP:0012671 Orthostatic syncope HP:0012670 Carotid sinus syncope HP:0012669 Vasovagal syncope HP:0012668 Situational syncope HP:0012668 Reflex syncope HP:0012668 Neurocardiogenic syncope HP:0012668 Regional left ventricular wall motion abnormality HP:0012667 Severely reduced ejection fraction HP:0012666 Moderately reduced ejection fraction HP:0012665 Reduced ejection fraction HP:0012664 Mildly reduced ejection fraction HP:0012663 Parietal hypometabolism in FDG PET HP:0012662 Hypothalamic hypometabolism in FDG PET HP:0012661 Thalamic hypometabolism in FDG PET HP:0012660 Prefrontal hypometabolism in FDG PET HP:0012659 Abnormal brain FDG positron emission tomography HP:0012658 Abnormal brain positron emission tomography HP:0012657 Reduced CSF dopamine level HP:0012656 Elevated CSF dopamine level HP:0012655 Abnormal CSF dopamine level HP:0012654 Status Asthmaticus HP:0012653 Acute severe asthma HP:0012653 Exercise-induced asthma HP:0012652 Abasia HP:0012651 Perisylvian polymicrogyria HP:0012650 Increased inflammatory response HP:0012649 Decreased inflammatory response HP:0012648 Abnormal inflammatory response HP:0012647 Retractile testis HP:0012646 Retractile testicle HP:0012646 Enlarged peripheral nerves HP:0012645 Enlarged peripheral nerve HP:0012645 Increased caudate lactate level HP:0012644 Foveal hypopigmentation HP:0012643 Cerebellar agenesis HP:0012642 Intracranial hypotension HP:0012641 Decreased intracranial pressure HP:0012641 Abnormality of intracranial pressure HP:0012640 Abnormality of nervous system morphology HP:0012639 Abnormality of nervous system physiology HP:0012638 Renal calcium wasting HP:0012637 Retinal vein occlusion HP:0012636 Iris hypoperfusion HP:0012635 Iris pigment dispersion HP:0012634 Asymmetry of intraocular pressure HP:0012633 Abnormal intraocular pressure HP:0012632 Pigment deposition in the trabecular meshwork HP:0012631 Abnormality of the trabecular meshwork HP:0012630 Phacodonesis HP:0012629 Ciliary zonule abnormality HP:0012628 Abnormality of the suspensory ligament of lens HP:0012628 Pseudoexfoliation HP:0012627 Stage 4 chronic kidney disease HP:0012626 Stage 3 chronic kidney disease HP:0012625 Stage 2 chronic kidney disease HP:0012624 Stage 1 chronic kidney disease HP:0012623 Renal insufficiency, progressive HP:0012622 Renal failure, progressive HP:0012622 Progressive renal insufficiency HP:0012622 Progressive renal failure HP:0012622 Loss of renal function HP:0012622 Chronic kidney disease HP:0012622 Persistent cloaca HP:0012621 Cloacal abnormality HP:0012620 Multiple bladder diverticula HP:0012619 Urachal cyst HP:0012618 Erythrocyte cylindruria HP:0012617 Leukocyte cylindruria HP:0012616 Cylindruria HP:0012615 Abnormal urine cytology HP:0012614 Increased urinary sulfate HP:0012613 Abnormal urinary sulfate concentration HP:0012612 Increased urinary urate HP:0012611 Abnormality of urinary uric acid concentration HP:0012610 Hypomagnesiuria HP:0012609 Decreased urine magnesium HP:0012609 Hypermagnesiuria HP:0012608 Absent muscle fiber merosin HP:0030091 Absent muscle fiber laminin alpha 2 HP:0030091 Absent merosin staining in muscle biopsy HP:0030091 Abnormal muscle fiber merosin expression HP:0030090 Abnormal muscle fiber protein expression HP:0030089 Increased testosterone HP:0030088 Increased serum testosterone levels HP:0030088 Increased serum testosterone level HP:0030088 High serum testosterone levels HP:0030088 High serum testosterone level HP:0030088 Abnormal testosterone level HP:0030087 Abnormal serum testosterone level HP:0030087 Reduced CSF lactate HP:0030086 Abnormal CSF lactate level HP:0030085 Clinodactyly HP:0030084 Salt craving HP:0030083 Abnormal drinking behavior HP:0030082 Punctate periventricular T2 hyperintense foci HP:0030081 Burkitt lymphoma HP:0030080 Cervix cancer HP:0030079 Lung adenocarcinoma HP:0030078 Bronchial neoplasm HP:0030077 Lobular carcinoma in situ HP:0030076 Ductal carcinoma in situ HP:0030075 Chemodectomas HP:0030074 Chemodectoma HP:0030074 obsolete Pharyngeal neoplasm HP:0030073 Paranasal sinus neoplasm HP:0030072 Medulloepithelioma HP:0030071 Central primitive neuroectodermal tumor HP:0030070 Primary central nervous system lymphoma HP:0030069 Primary CNS lymphoma HP:0030069 Olfactory esthesioneuroblastoma HP:0030068 Peripheral primitive neuroectodermal neoplasm HP:0030067 Ependymoblastoma HP:0030066 Primitive neuroectodermal tumor HP:0030065 Neurocytoma HP:0030064 Neuroepithelial neoplasm HP:0030063 Craniopharyngioma HP:0030062 Neuroectodermal neoplasm HP:0030061 Nervous tissue neoplasm HP:0030060 Mitochondrial depletion HP:0030059 Abnormal urine magnesium concentration HP:0012607 Renal sodium wasting HP:0012606 Increased urinary sodium HP:0012605 Hypernatriuria HP:0012605 Hyponatriuria HP:0012604 Abnormal urine sodium concentration HP:0012603 Renal chloride wasting HP:0012602 Hypochloriduria HP:0012601 Decreased urinary chloride HP:0012601 Abnormal urine chloride concentration HP:0012600 Abnormal urine phosphate concentration HP:0012599 Abnormal urine potassium concentration HP:0012598 Heavy proteinuria HP:0012597 Moderate proteinuria HP:0012596 Mild proteinuria HP:0012595 Microalbuminuria HP:0012594 Nephrotic range proteinuria HP:0012593 Albuminuria HP:0012592 Abnormal urinary electrolyte concentration HP:0012591 Abnormal urine output HP:0012590 Multidrug-resistant nephrotic syndrome HP:0012589 Steroid-resistant nephrotic syndrome HP:0012588 Macroscopic hematuria HP:0012587 Bilateral renal atrophy HP:0012586 Renal atrophy HP:0012585 Bilateral renal hypoplasia HP:0012584 Abnormality of neurotransmitter metabolism HP:0012535 Abnormal synaptic transmission HP:0012535 Dysesthesias HP:0012534 Dysesthesia HP:0012534 Dysaesthesia HP:0012534 Allodynia HP:0012533 Chronic pain HP:0012532 Pain HP:0012531 Abnormal number of dense granules HP:0012530 Abnormal dense granule content HP:0012529 Abnormal number of alpha granules HP:0012528 Abnormal alpha granule content HP:0012527 Absence of alpha granules HP:0012526 Abnormal alpha granule distribution HP:0012525 Abnormal platelet shape HP:0012524 Oral aversion HP:0012523 Spider hemangioma HP:0012522 Optic nerve aplasia HP:0012521 Aplastic optic nerve HP:0012521 Perivascular spaces HP:0012520 Dilated cerebral perivascular spaces HP:0012520 Dilated Virchow-Robin spaces HP:0012520 Dilatation of Virchow-Robin spaces HP:0012520 Hypoplastic posterior communicating artery HP:0012519 Hypoplastic posterior communicating arteries HP:0012519 Abnormality of circle of Willis HP:0012518 Reduced catalase activity HP:0012517 Tetralogy of Fallot with pulmonary atresia HP:0012516 Hip flexor weakness HP:0012515 Lower limb pain HP:0012514 Upper limb pain HP:0012513 Diffuse optic disc pallor HP:0012512 Temporal optic disc pallor HP:0012511 Extra-axial cerebrospinal fluid accumulation HP:0012510 Reduced thyroxin-binding globulin HP:0012509 Metamorphopsia HP:0012508 Weakness of orbicularis oculi muscles HP:0012507 Weakness of orbicularis oculi muscle HP:0012507 Small pituitary gland HP:0012506 Enlarged pituitary gland HP:0012505 Abnormal size of pituitary gland HP:0012504 disorder of pituitary gland HP:0012503 Abnormality of the pituitary gland HP:0012503 Abnormality of the internal capsule HP:0012502 Abnormality of the brainstem white matter HP:0012501 Verrucous papule HP:0012500 Descending aortic dissection HP:0012499 Nuchal cord HP:0012498 Reduced maximal expiratory pressure HP:0012497 Reduced maximal inspiratory pressure HP:0012496 Posterior cerebral artery stenosis HP:0012495 Anterior cerebral artery stenosis HP:0012494 Middle cerebral artery stenosis HP:0012493 Cerebral artery stenosis HP:0012492 Abnormal dense tubular system HP:0012491 Panniculitis HP:0012490 Suprasellar arachnoid cyst HP:0012489 Intraventricular arachnoid cyst HP:0012488 Cerebellopontine angle arachnoid cyst HP:0012487 Myelitis HP:0012486 Abnormal surface-connected open canalicular system HP:0012485 Abnormal dense granules HP:0012484 Abnormal alpha granules HP:0012483 Frontal venous angioma HP:0012482 Developmental Venous Anomaly HP:0012481 Cerebral venous angioma HP:0012481 Abnormality of cerebral veins HP:0012480 Temporomandibular joint crepitus HP:0012479 Temporomandibular joint fusion HP:0012478 Temporomandibular joint ankylosis HP:0012478 Vocal tremor HP:0012477 Specific pneumococcal antibody deficiency HP:0012476 Specific antibody deficiency HP:0012475 Carotid artery occlusion HP:0012474 Tongue atrophy HP:0012473 Atrophy of the tongue HP:0012473 Eclabium HP:0012472 Eclabion HP:0012472 Thick vermilion border HP:0012471 Thick lips HP:0012471 Prominent lips HP:0012471 Full lips HP:0012471 Sunsetting eye HP:0012470 Sun setting eyes HP:0012470 Setting-sun eye phenomenon HP:0012470 Eyes fixed downward HP:0012470 Infantile spasms HP:0012469 Chronic acidosis HP:0012468 Acute respiratory acidosis HP:0012467 Chronic respiratory acidosis HP:0012466 Increased liver iron level HP:0012465 Elevated hepatic iron concentration HP:0012465 Decreased transferrin saturation HP:0012464 Elevated transferrin saturation HP:0012463 Geniospasm HP:0012462 Chin spasms HP:0012462 Chin myoclonus HP:0012462 Bacteriuria HP:0012461 Dysmorphic inferior cerebellar vermis HP:0012460 Hypnic headache HP:0012459 Alarm clock headache HP:0012459 Medial calcification of small arteries HP:0012458 Medial calcification of medium-sized arteries HP:0012457 Medial arterial calcification HP:0012456 Large artery calcification HP:0012455 Unilateral wrist flexion contracture HP:0012454 Unilateral wrist contracture HP:0012454 Bilateral wrist flexion contracture HP:0012453 Bilateral wrist contracture HP:0012453 Wittmaack-Ekbom syndrome HP:0012452 Willis-Ekbom disease HP:0012452 Restless legs syndrome HP:0012452 Restless legs HP:0012452 Acute constipation HP:0012451 Chronic constipation HP:0012450 Sacroiliac joint synovitis HP:0012449 Delayed myelination HP:0012448 Abnormal myelination HP:0012447 Low CSF 5-methyltetrahydrofolate HP:0012446 Cerebral folate deficiency HP:0012446 Brain atrophy HP:0012444 Abnormality of the brain HP:0012443 Abnormality of brain morphology HP:0012443 Gallbladder dyskinesia HP:0012442 Sphincter of Oddi dyskinesia HP:0012441 Sphincter of Oddi dysfunction HP:0012441 Anomaly of the biliary tract HP:0012440 Abnormal biliary tract morphology HP:0012440 Abnormal biliary tract physiology HP:0012439 Abnormal gallbladder physiology HP:0012438 Abnormal gallbladder morphology HP:0012437 Nonocclusive coronary artery stenosis HP:0012436 Nonocclusive coronary artery disease HP:0012436 Non-occlusive coronary artery stenosis HP:0012436 Non-occlusive coronary artery disease HP:0012436 Ventral shortening of foreskin HP:0012435 Delayed social development HP:0012434 Abnormal social interactions HP:0012433 Abnormal social behaviour HP:0012433 Abnormal social behavior HP:0012433 Chronic fatigue HP:0012432 Episodic fatigue HP:0012431 Paucity of cerebral white matter HP:0012430 Cerebral white matter hypoplasia HP:0012430 Aplasia/Hypoplasia of the cerebral white matter HP:0012429 Prominent heel bone HP:0012428 Prominent calcaneus HP:0012428 Excessive femoral anteversion HP:0012427 Optic disc drusen HP:0012426 Stercoral ulcer HP:0012425 Recto-sigmoid colon stercoral ulcer HP:0012425 Chorioretinitis HP:0012424 Colonic inertia HP:0012423 Villous hypertrophy of choroid plexus HP:0012422 Diffuse villous hypertrophy of choroid plexus HP:0012422 Choroid plexus hypertrophy HP:0012422 Congenital absence of foreskin HP:0012421 Aposthia HP:0012421 Absent foreskin HP:0012421 Meconium-stained amniotic fluid HP:0012420 Meconium staining of amniotic fluid HP:0012420 Meconium stained amniotic fluid HP:0012420 Hyperoxemia HP:0012419 Hypoxemia HP:0012418 Hypocapnia HP:0012417 Hypercarbia HP:0012416 Hypercapnia HP:0012416 Abnormal blood gas level HP:0012415 Duodenal atrophy HP:0012414 Notched primary central incisor HP:0012413 Hutchinson's teeth HP:0012413 Premature adrenarche HP:0012412 Premature pubarche HP:0012411 Red cell aplasia HP:0012410 Pure red cell aplasia HP:0012410 Cortical nephrocalcinosis HP:0012409 Medullary nephrocalcinosis HP:0012408 Scissors gait HP:0012407 Scissor gait HP:0012407 Increased urine citrate concentration HP:0012406 Hypercitraturia HP:0012406 Hypocitraturia HP:0012405 Decreased urine citrate concentration HP:0012405 Abnormal urine citrate concentration HP:0012404 Decreased urine alpha-ketoglutarate concentration HP:0012403 Increased urine alpha-ketoglutarate concentration HP:0012402 Abnormality of urine alpha ketoglutarate concentration HP:0012401 Abnormal urine alpha-ketoglutarate concentration HP:0012401 Abnormal aldolase level HP:0012400 Pressure ulcer HP:0012399 Corneal ulceration HP:0012804 Corneal ulcer HP:0012804 Anisometropia HP:0012803 Wide mandible HP:0012802 Wide jaw HP:0012802 Broad mandible HP:0012802 Broad lower face HP:0012802 Broad jaw HP:0012802 Narrow mandible HP:0012801 Narrow lower jaw HP:0012801 Narrow lower face HP:0012801 Narrow jaw HP:0012801 supernumary fontanelle HP:0012800 supernumary cranial suture HP:0012800 extra fontanelle HP:0012800 accessory fontanelle HP:0012800 Extra cranial suture HP:0012800 Accessory cranial suture HP:0012800 Unilateral facial palsy HP:0012799 Pulmonary myomatosis HP:0012798 Pulmonary lymphangiomyomatosis HP:0012798 Lymphangioleiomyomatosis HP:0012798 Lymphatic vessel neoplasm HP:0012797 Increased cup-to-disc ratio HP:0012796 Increased cup disc ratio HP:0012796 Elevated cup to disc ratio HP:0012796 Abnormality of the optic disc HP:0012795 Periventricular white matter hypodensities HP:0012794 Kinked brainstem HP:0012793 Kinked brain stem HP:0012793 Absent ossification of thoracic vertebral bodies HP:0012792 Abnormal humeral ossification HP:0012791 Abnormal intramembranous ossification HP:0012790 Abnormal intramembranous bone ossification HP:0012790 Hypoplastic calcaneus HP:0012789 Hypoplasia of the calcaneus HP:0012789 Reticulate pigmentation of oral mucosa HP:0012788 Recurrent pyelonephritis HP:0012787 Recurrent cystitis HP:0012786 Flexion contracture of finger HP:0012785 Perinephritis HP:0012784 Intralobar nephrogenic rest HP:0012783 Perilobar nephrogenic rest HP:0012782 Mid-frequency hearing loss HP:0012781 Neoplasm of the ear HP:0012780 Transient hearing impairment HP:0012779 Retinal astrocytic hamartoma HP:0012778 Retinal neoplasm HP:0012777 Abnormality of the ciliary body HP:0012776 Stellate iris HP:0012775 Increased upper to lower segment ratio HP:0012774 Reduced upper to lower segment ratio HP:0012773 Abnormal upper to lower segment ratio HP:0012772 Increased arm span HP:0012771 Reduced arm span HP:0012770 Abnormal arm span HP:0012769 Neonatal asphyxia HP:0012768 Asphyxia neonatorum HP:0012768 Abnormal placental size HP:0012767 Widened cerebral subarachnoid space HP:0012766 Widened cerebellar subarachnoid space HP:0012765 Orthopnea HP:0012764 Paroxysmal dyspnea HP:0012763 Cerebral white matter atrophy HP:0012762 Absent mastoids HP:0012761 Absent mastoid HP:0012761 Impaired social reciprocity HP:0012760 Neurodevelopmental abnormality HP:0012759 Neurodevelopmental delay HP:0012758 Abnormal neuron morphology HP:0012757 Pressure Sore HP:0012399 Decubitus Ulcer HP:0012399 Bedsore HP:0012399 Peripheral edema HP:0012398 Atherosclerotic changes of aorta HP:0012397 Atherosclerosis of the aorta HP:0012397 Aortic atherosclerosis HP:0012397 Biliary dyskinesia HP:0012396 Seasonal allergy HP:0012395 Iodine contrast allergy HP:0012394 Allergy HP:0012393 Jaw hyporeflexia HP:0012392 Hyporeflexia of upper limbs HP:0012391 Anal fissure HP:0012390 Appendicular hypotonia HP:0012389 Acute bronchitis HP:0012388 Bronchitis HP:0012387 Aplasia of the hallux HP:0012386 Agenesis of the halluces HP:0012386 Absent hallux HP:0012386 Camptodactyly HP:0012385 Rhinitis HP:0012384 Bidirectional shunt HP:0012383 Left-to-right shunt HP:0012382 Delayed self-feeding during toddler years HP:0012381 Reduced carnitine O-palmitoyltransferase activity HP:0012380 Cerebrospinal fluid pleocytosis HP:0012229 CSF pleocytosis HP:0012229 Tension-type headache HP:0012228 Urethral stricture HP:0012227 Ovarian teratoma HP:0012226 Oligodontia of primary teeth HP:0012225 Circulating immune complexes HP:0012224 Splenic rupture HP:0012223 Ruptured spleen HP:0012223 Arachnoid hemangiomatosis HP:0012222 Pretibial epidermolysis bullosa HP:0012221 Pretibial blistering HP:0012221 Non-caseating epithelioid cell granulomatosis HP:0012220 Erythema nodosum HP:0012219 Alveolar soft part sarcoma HP:0012218 Increased urinary porphobilinogen HP:0012217 Suprascapular nerve entrapment HP:0012216 Entrapment neuropathy of suprascapular nerve HP:0012216 Testicular microlithiasis HP:0012215 Increased glomerular filtration rate HP:0012214 Reduced creatinine clearance HP:0012213 Impaired renal creatinine clearance HP:0012213 Decreased glomerular filtration rate HP:0012213 Abnormal glomerular filtration rate HP:0012212 Renal functional abnormality HP:0012211 Abnormality of renal physiology HP:0012211 Abnormal renal physiology HP:0012211 Abnormal renal function HP:0012211 Structural renal anomalies HP:0012210 Structural kidney abnormalities HP:0012210 Structural anomalies of the renal tract HP:0012210 Renal malformation HP:0012210 Kidney malformation HP:0012210 Abnormal renal morphology HP:0012210 Juvenile myelomonocytic leukemia HP:0012209 Nonmotile sperm HP:0012208 Reduced sperm motility HP:0012207 Abnormal sperm motility HP:0012206 Globozoospermia HP:0012205 Recurrent vulvovaginal candidiasis HP:0012204 Onychomycosis HP:0012203 Increased serum bile acid concentration HP:0012202 Reduced prothrombin activity HP:0012201 Reduced factor II activity HP:0012201 Abnormality of prothrombin HP:0012200 Cluster headache HP:0012199 Juvenile colonic polyposis HP:0012198 Insulinoma HP:0012197 Periodic respiration HP:0012196 Cheyne-Stokes respiration HP:0012196 Irregular respiration HP:0012195 Episodic hemiplegia HP:0012194 Anaplastic large-cell lymphoma HP:0012193 Cutaneous T-cell lymphoma HP:0012192 B-cell lymphoma HP:0012191 B cell lymphoma HP:0012191 T-cell lymphoma HP:0012190 T cell lymphoma HP:0012190 Hodgkin's lymphoma HP:0012189 Hodgkin lymphoma HP:0012189 Hodgkin disease HP:0012189 Hyperemesis gravidarum HP:0012188 Increased erythrocyte protoporphyrin concentration HP:0012187 Entrapment neuropathy of the ulnar nerve at elbow HP:0012186 Constrictive median neuropathy HP:0012185 Hyperalphalipoproteinemia HP:0012184 Hyperplastic colonic polyposis HP:0012183 Oropharyngeal squamous cell carcinoma HP:0012182 Entrapment neuropathy HP:0012181 Cystic medial necrosis HP:0012180 Arterial cystic medial necrosis HP:0012180 Facial Dystonia HP:0012179 Distorted craniofacial posture HP:0012179 Craniofacial dystonia HP:0012179 Abnormal facial muscle tone HP:0012179 Abnormal craniofacial posture HP:0012179 Abnormal craniofacial muscle tone HP:0012179 Reduced natural killer cell activity HP:0012178 Abnormal natural killer cell physiology HP:0012177 Abnormality of natural killer cells HP:0012176 Abnormal NK cells HP:0012176 Resistance to activated protein C HP:0012175 Activated protein C resistance HP:0012175 Glioblastoma multiforme HP:0012174 Postural tachycardia HP:0012173 Orthostatic tachycardia HP:0012173 Stereotypical body rocking HP:0012172 Stereotypical hand wringing HP:0012171 Onychophagy HP:0012170 Onychophagia HP:0012170 Nail-biting HP:0012170 Self-biting HP:0012169 Head-banging HP:0012168 Trichotillomania HP:0012167 Hair-pulling HP:0012167 Skin-picking HP:0012166 Dermatillomania HP:0012166 Compulsive skin picking HP:0012166 Oligodactyly HP:0012165 Asterixis HP:0012164 Carotid artery aneurysm HP:0012163 Common carotid artery dissection HP:0012162 External carotid artery dissection HP:0012161 Intracranial internal carotid artery dissection HP:0012160 Internal carotid artery dissection HP:0012159 Carotid artery dissection HP:0012158 Subcortical cerebral atrophy HP:0012157 Hemophagocytosis HP:0012156 Reduced corneal sensation HP:0012155 Decreased corneal sensitivity HP:0012155 Decreased corneal sensation HP:0012155 Corneal hypesthesia HP:0012155 Corneal hypaesthesia HP:0012155 Anhedonia HP:0012154 Hypotriglyceridemia HP:0012153 Retinoschisis involving the fovea HP:0012152 Foveoschisis HP:0012152 Hemothorax HP:0012151 Single lineage myelodysplasia HP:0012150 Bilineage myelodysplasia HP:0012149 Multiple lineage myelodysplasia HP:0012148 Reduced quantity of Von Willebrand factor HP:0012147 Decreased von Willebrand factor HP:0012147 Abnormality of von Willebrand factor HP:0012146 Abnormality of multiple cell lineages in the bone marrow HP:0012145 Abnormality of cells of the monocyte/macrophage lineage HP:0012144 Abnormality of cells of the megakaryocyte lineage HP:0012143 Squamous cell carcinoma of the pancreas HP:0012142 Pancreatic squamous cell carcinoma HP:0012142 Abnormality of cells of the lymphoid lineage HP:0012140 Granulocytic hypoplasia HP:0012139 Granulocytic hyperplasia HP:0012138 Abnormal number of granulocyte precursors HP:0012137 Dysplastic granulopoesis HP:0012136 Abnormality of cells of the granulocytic lineage HP:0012135 Dysplastic erythropoesis HP:0012134 Erythroid hypoplasia in the bone marrow HP:0012133 Erythroid hypoplasia HP:0012133 Erythroblastopenia HP:0012133 Erythroid hyperplasia HP:0012132 Bone marrow smear shows erythroid hyperplasia HP:0012132 Bone marrow biopsy shows erythroid hyperplasia HP:0012132 Abnormal number of erythroid precursors HP:0012131 Abnormality of cells of the erythroid lineage HP:0012130 Abnormality of bone marrow stromal cells HP:0012129 Basal ganglia necrosis HP:0012128 Uraciluria HP:0012127 Stomach cancer HP:0012126 Gastric cancer HP:0012126 Prostatic cancer HP:0012125 Prostate cancer HP:0012125 Intermediate uveitis HP:0012124 Posterior uveitis HP:0012123 Anterior uveitis HP:0012122 Panuveitis HP:0012121 Methymalonicaciduria HP:0012120 Methylmalonic aciduria HP:0012120 Methemoglobinemia HP:0012119 Laryngeal carcinoma HP:0012118 Laryngeal cancer HP:0012118 Cancer of the larynx HP:0012118 Hyperalbuminemia HP:0012117 Hyperalbuminaemia HP:0012117 Abnormal albumin level HP:0012116 Liver inflammation HP:0012115 Hepatitis HP:0012115 Endometrial carcinoma HP:0012114 Creatine metabolism abnormal HP:0012113 Abnormality of creatine metabolism HP:0012113 Abnormality of circulating corticosterone level HP:0012112 Abnormality of circulating glucocorticoid level HP:0012111 Pontine hypoplasia HP:0012110 Hypoplasia of the pons HP:0012110 Primary angle closure glaucoma HP:0012109 Primary open angle glaucoma HP:0012108 Wide fibula HP:0012107 Thick fibulae HP:0012107 Thick fibula HP:0012107 Increased fibular diameter HP:0012107 Rhizomelic leg shortening HP:0012106 Occipital cortical atrophy HP:0012105 Parietal cortical atrophy HP:0012104 Mitochondrial abnormalities HP:0012103 Abnormality of the mitochondrion HP:0012103 Abnormal mitochondrial number HP:0012102 Reduced creatinine levels HP:0012101 Decreased serum creatinine HP:0012101 Creatinine levels abnormal HP:0012100 Abnormal circulating creatinine level HP:0012100 Catecholamine levels abnormal HP:0012099 Unilateral renal hypoplasia HP:0012583 Bilateral renal dysplasia HP:0012582 Solitary renal cyst HP:0012581 Calcium phosphate urolithiasis HP:0012580 Calcium phosphate nephrolithiasis HP:0012580 Minimal change nephropathy HP:0012579 Minimal change glomerulonephritis HP:0012579 Minimal change disease HP:0012579 Membranous nephropathy HP:0012578 Membranous glomerulonephritis HP:0012578 Thin glomerular basement membrane HP:0012577 C3 nephropathy HP:0012576 Abnormality of the nephron HP:0012575 Mesangial proliferation HP:0012574 Global proximal tubulopathy HP:0012573 Ureter duplex HP:0012572 Ureter fissus HP:0012571 Partially duplicated ureter HP:0012571 Synovial sarcoma HP:0012570 Delayed menarche HP:0012569 Lower eyelid edema HP:0012568 Premature epimetaphyseal fusion in ulna HP:0012567 Premature epimetaphyseal fusion in radius HP:0012566 Premature epimetaphyseal fusion in fibula HP:0012565 Premature epimetaphyseal fusion in tibia HP:0012564 Premature epimetaphyseal fusion in foot HP:0012563 Premature epimetaphyseal fusion in hand HP:0012562 Unicuspid aortic valve HP:0012561 Decreased T3/T4 ratio HP:0012560 Increased T3/T4 ratio HP:0012559 Abnormal T3/T4 ratio HP:0012558 EEG with centrotemporal focal spike waves HP:0012557 Hyperbetaalaninemia HP:0012556 Hyperbeta-alaninemia HP:0012556 Absent nail of hallux HP:0012555 Absent nail of big toe HP:0012555 Absent big toe nail HP:0012555 Absent thumbnail HP:0012554 Hypoplastic thumbnail HP:0012553 Increased neutrophil nuclear projections HP:0012552 Absent neutrophil specific granules HP:0012551 Colonic varices HP:0012550 Conjunctival lipoma HP:0012549 Skeletal muscle fatty infiltration HP:0012548 Fatty replacement of skeletal muscle HP:0012548 Abnormal involuntary eye movements HP:0012547 Skewed maternal X inactivation HP:0012546 Reduced aldolase level HP:0012545 Elevated aldolase level HP:0012544 Hemosiderinuria HP:0012543 Onychauxis HP:0012542 Cephalohematoma HP:0012541 Cephalohaematoma HP:0012541 Axillary epidermoid cyst HP:0012540 Non-Hodgkin lymphoma HP:0012539 Gluten intolerance HP:0012538 Non-allergic food hypersensitivity HP:0012537 Food intolerance HP:0012537 Maternal anticardiolipin antibody positive HP:0012536 Abnormality of circulating catecholamine level HP:0012099 Edema of the dorsum of feet HP:0012098 Edema of dorsum of feet HP:0012098 Intracranial dermoid cyst HP:0012097 Intracranial epidermoid cyst HP:0012096 Multiple joint dislocations HP:0012095 Multiple joint dislocation HP:0012095 Abnormal pancreas size HP:0012094 Abnormality of endocrine pancreas physiology HP:0012093 Abnormality of exocrine pancreas physiology HP:0012092 Abnormal exocrine pancreatic function HP:0012092 Abnormality of pancreas physiology HP:0012091 Abnormality of pancreas morphology HP:0012090 Arteritis HP:0012089 Abnormal urinary odour HP:0012088 Abnormal urinary odor HP:0012088 Abnormal mitochondrial shape HP:0012087 Abnormal urinary colour HP:0012086 Abnormal urinary color HP:0012086 Pyuria HP:0012085 Abnormality of skeletal muscle fiber size HP:0012084 Ubiquitin-positive cerebral inclusion bodies HP:0012083 Cerebellar Purkinje layer atrophy HP:0012082 Enlarged cerebellum HP:0012081 Cerebellar granular layer atrophy HP:0012080 Abnormality of central motor conduction HP:0012079 Adie's tonic pupil HP:0012074 Adie pupil HP:0012074 Abnormal urinary acylglycine profile HP:0012073 Aciduria HP:0012072 Abnormality of acetylcarnitine metabolism HP:0012071 Abnormal acetylcarnitine profile HP:0012071 Chondroitin sulfate excretion in urine HP:0012070 Keratan sulfate excretion in urine HP:0012069 Aspartylglucosaminuria HP:0012068 Glycopeptiduria HP:0012067 Increased urinary disaccharide excretion HP:0012066 Multiple bony cystic lesions HP:0012065 Unicameral bone cyst HP:0012064 Aneurysmal bone cyst HP:0012063 Bone cysts HP:0012062 Bone cyst HP:0012062 Urinary excretion of sialylated oligosaccharides HP:0012061 Increased urinary sialyloligosaccharides HP:0012061 Acral lentiginous melanoma HP:0012060 Lentigo maligna melanoma HP:0012059 Nodular melanoma HP:0012058 Superficial spreading melanoma HP:0012057 Cutaneous melanoma HP:0012056 Ciliary body melanoma HP:0012055 Choroidal melanoma HP:0012054 Low serum calcifediol (25-hydroxycholecalciferol) HP:0012053 Low serum calcitriol (1,25-dihydroxycholecalciferol) HP:0012052 Reactive hypoglycemia HP:0012051 Postprandial hypoglycemia HP:0012051 Anasarca HP:0012050 Spasmodic dysphonia HP:0012049 Laryngeal dystonia HP:0012049 Oromandibular dystonia HP:0012048 Cranial dystonia HP:0012048 Hemeralopia HP:0012047 Day blindness HP:0012047 Areflexia of upper limbs HP:0012046 Retinal flecks HP:0012045 Seesaw nystagmus HP:0012044 Pendular nystagmus HP:0012043 Nystagmus, pendular HP:0012043 Nystagmus, continuous pendular HP:0012043 Aspirin-induced asthma HP:0012042 Decreased fertility in males HP:0012041 Corneal stromal edema HP:0012040 Descemet Membrane Folds HP:0012039 Corneal guttata HP:0012038 Corneal endothelial guttata HP:0012038 Pectoralis amyotrophy HP:0012037 Sternocleidomastoid amyotrophy HP:0012036 Steatocystoma multiplex HP:0012035 Liposarcoma HP:0012034 Sacral lipoma HP:0012033 Lipoma HP:0012032 Lipomatous tumor HP:0012031 Increased urinary cortisol level HP:0012030 Abnormality of urine hormone level HP:0012029 Liver cell adenoma HP:0012028 Hepatocellular adenoma HP:0012028 Hepatic adenoma HP:0012028 Laryngeal edema HP:0012027 Hyperornithinemia HP:0012026 Abnormality of ornithine metabolism HP:0012025 Hypergalactosemia HP:0012024 Galactosemia HP:0012024 Galactosuria HP:0012023 Congenital portosystemic venous shunt HP:0012022 Persistent patent ductus venosus HP:0012021 Right-sided aortic arch HP:0012020 Right aortic arch HP:0012020 Lens luxation HP:0012019 EEG with temporal focal spikes HP:0012018 EEG with parietal focal spikes HP:0012017 EEG with occipital focal spikes HP:0012016 EEG with frontal focal spikes HP:0012015 EEG with central focal spikes HP:0012014 EEG with temporal focal spike waves HP:0012013 EEG with parietal focal spike waves HP:0012012 EEG with occipital focal spike waves HP:0012011 EEG with frontal focal spike waves HP:0012010 EEG with central focal spike waves HP:0012009 Illusory auras HP:0012008 Hallucinatory auras HP:0012007 Jamais vu HP:0012006 Deja vu HP:0012005 Mnemonic auras HP:0012004 Affective auras HP:0012003 Experiential auras HP:0012002 EEG with generalized polyspikes HP:0012001 EEG with generalized spikes HP:0012000 Paranoia HP:0011999 Postprandial hyperglycemia HP:0011998 Postprandial hyperlactemia HP:0011997 Plasma factor V elevated HP:0011996 Elevated factor V activity HP:0011996 Atrial septal aneurysm HP:0011995 Abnormality of the atrial septum HP:0011994 Impaired neutrophil bactericidal activity HP:0011993 Abnormality of neutrophil morphology HP:0011992 Abnormal neutrophil cell number HP:0011991 Abnormality of neutrophil physiology HP:0011990 Ectopic ossification in ligament tissue HP:0011989 Ectopic ossification in tendon tissue HP:0011988 Ectopic ossification in muscle tissue HP:0011987 Heterotopic ossification HP:0011986 Ectopic ossification HP:0011986 Ectopic bone formation HP:0011986 Discolored, acholic stools HP:0011985 Acholic stools HP:0011985 Acholia HP:0011985 Gallbladder atresia HP:0011984 Atretic gallbladder HP:0011984 Brown pigment gallstones HP:0011983 Black pigment gallstones HP:0011982 Pigment gallstones HP:0011981 Cholesterol gallstones HP:0011980 Elevated urinary dopamine HP:0011979 Increased urinary vanillylmandelic acid HP:0011978 Elevated urinary vanillylmandelic acid HP:0011978 Increased urinary homovanillic acid HP:0011977 Elevated urinary homovanillic acid HP:0011977 Elevated urinary catecholamines HP:0011976 Aminoglycoside-induced hearing loss HP:0011975 Myelofibrosis HP:0011974 Paroxysmal lethargy HP:0011973 Hypoglycorrhachia HP:0011972 Decreased CSF glucose HP:0011972 Dermatographism HP:0011971 Dermatographic urticaria HP:0011971 Cerebral amyloid angiopathy HP:0011970 Increased circulating luteinizing hormone level HP:0011969 Elevated luteinizing hormone HP:0011969 Poor feeding HP:0011968 Feeding problems HP:0011968 Feeding difficulties HP:0011968 Hypocupremia HP:0011967 Elevated plasma citrulline HP:0011966 Abnormality of citrulline metabolism HP:0011965 Intermittent painful muscle spasms HP:0011964 Pretesticular azoospermia HP:0011963 Obstructive azoospermia HP:0011962 Testicular azoospermia HP:0011961 Non-obstructive azoospermia HP:0011961 Substantia nigra gliosis HP:0011960 Unilateral hypoplasia of pectoralis major muscle HP:0011959 Retinal perforation HP:0011958 Abnormality of the pectoral muscle HP:0011957 Intestinal lymphoid nodular hyperplasia HP:0011956 Hepatic granulomatosis HP:0011955 Partial nodular transformation of liver HP:0011954 Noncirrhotic nodulation HP:0011954 Nodular transformation of liver HP:0011954 Nodular regenerative hyperplasia of liver HP:0011954 Pulmonary lymphoma HP:0011953 Acute aspiration pneumonia HP:0011952 Aspiration pneumonia HP:0011951 Bronchiolitis HP:0011950 Acute infectious pneumonia HP:0011949 Acute respiratory tract infection HP:0011948 Respiratory tract infection HP:0011947 Respiratory infections HP:0011947 Respiratory infection HP:0011947 Obliterative bonchiolitis HP:0011946 Constrictive bronchiolitis HP:0011946 Bronchiolitis obliterans HP:0011946 Cryptogenic organizing pneumonia HP:0011945 Bronchiolitis obliterans organizing pneumonia (BOOP) HP:0011945 Bronchiolitis obliterans organizing pneumonia HP:0011945 Small vessel vasculitis HP:0011944 Increased urinary thiosulfate HP:0011943 Increased urinary sulfite HP:0011942 Anterior wedging of L2 HP:0011941 Wedge-shaped 12th thoracic vertebra HP:0011940 Anterior wedging of the 12th thoracic vertebra HP:0011940 Anterior wedging of T12 HP:0011940 3-4 finger cutaneous syndactyly HP:0011939 Hypoplastic fifth toenail HP:0011937 Decreased plasma total carnitine HP:0011936 Decreased urinary urate HP:0011935 Mesenteric artery aneurysm HP:0011934 Long cerebellar peduncles HP:0011933 Long cerebellar peduncle HP:0011933 Elongated superior cerebellar peduncles HP:0011933 Elongated superior cerebellar peduncle HP:0011933 Abnormality of the superior cerebellar peduncle HP:0011932 Abnormality of the cerebellar peduncle HP:0011931 Hyperextensible skin of chest HP:0011930 Hypersegmentation of proximal phalanx of third finger HP:0011929 Short proximal phalanx of toe HP:0011928 Very short digits HP:0011927 Abnormality of the globe HP:0012374 Abnormal eye physiology HP:0012373 Abnormal eye morphology HP:0012372 Overgrowth of the midface HP:0012371 Midfacial prominence HP:0012371 Midfacial excess HP:0012371 Large midface HP:0012371 Hypertrophy of midface HP:0012371 Hyperplasia of midface HP:0012371 Big midface HP:0012371 Zygomatic hypertrophy HP:0012370 Prominence of the zygomatic bone HP:0012370 Prominence of cheekbone HP:0012370 Malar hypertrophy HP:0012370 Malar anomaly HP:0012369 Abnormality of malar bones HP:0012369 Flat facial profile HP:0012368 Flat face HP:0012368 Extra fontanelles HP:0012367 Basilar invagination HP:0012366 Hypophosphaturia HP:0012365 Hypokaluria HP:0012364 Decreased urinary potassium HP:0012364 Decreased sialylation of O-linked protein glycosylation HP:0012363 Abnormal sialylation of O-linked protein glycosylation HP:0012362 Increased fucosylation of O-linked protein glycosylation HP:0012361 Decreased fucosylation of O-linked protein glycosylation HP:0012360 Abnormal fucosylation of O-linked protein glycosylation HP:0012359 Abnormal protein O-linked glycosylation HP:0012358 Increased mannosylation of N-linked protein glycosylation HP:0012357 Decreased mannosylation of N-linked protein glycosylation HP:0012356 Abnormal mannosylation of N-linked protein glycosylation HP:0012355 Increased fucosylation of N-linked protein glycosylation HP:0012354 Decreased fucosylation of N-linked protein glycosylation HP:0012353 Abnormal fucosylation of protein N-linked glycosylation HP:0012352 Increased sialylation of N-linked protein glycosylation HP:0012351 Decreased sialylation of N-linked protein glycosylation HP:0012350 Abnormal sialylation of N-linked protein glycosylation HP:0012349 Decreased galactosylation of N-linked protein glycosylation HP:0012348 Abnormal protein N-linked glycosylation HP:0012347 Abnormal protein glycosylation HP:0012346 Abnormal glycosylation HP:0012345 Morphea HP:0012344 Reduced serum ferritin HP:0012343 Decreased serum ferritin HP:0012343 Macroprolactinoma HP:0012342 Microprolactinoma HP:0012341 Decreased resting energy expenditure HP:0012340 Increased resting energy expenditure HP:0012339 Abnormal energy expenditure HP:0012338 Abnormal homeostasis HP:0012337 Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration HP:0012336 Reduced CSF 5-methyltetrahydrofolate concentration HP:0012336 Abnormality of folate metabolism HP:0012335 Extrahepatic cholestasis HP:0012334 Sudomotor sympathetic dysfunction HP:0012333 Abnormal sudomotor regulation HP:0012333 Abnormal autonomic nervous system physiology HP:0012332 Abnormal autonomic nervous system morphology HP:0012331 Pyelonephritis HP:0012330 Tufted hemangioma HP:0012329 Tufted angioma HP:0012329 Progressive capillary hemangioma HP:0012329 Hypertrophic hemangioma HP:0012329 Angioblastoma of Nakagawa HP:0012329 Angioblastoma HP:0012329 Cementoma HP:0012328 Median arcuate ligament syndrome HP:0012327 Dunbar syndrome HP:0012327 Celiac axis syndrome HP:0012327 Celiac artery compression HP:0012327 Abnormality of the celiac artery HP:0012326 Chronic myelomonocytic leukemia HP:0012325 Myeloid leukemia HP:0012324 Sleep myoclonus HP:0012323 Perifolliculitis HP:0012322 Perifollicular inflammation HP:0012322 D-2-hydroxyglutaric aciduria HP:0012321 Absent pigmentation of the limbs HP:0012320 Absent pigmentation of the abdomen HP:0012319 Occipital neuralgia HP:0012318 Sacroiliac arthritis HP:0012317 Fibrous tissue neoplasm HP:0012316 Histiocytoma HP:0012315 Bouchard's node HP:0012314 Heberden's node HP:0012313 Monocytopenia HP:0012312 Monocytosis HP:0012311 Abnormal monocyte count HP:0012310 Cutaneous amyloidosis HP:0012309 Decreased serum complement C9 HP:0012308 Decreased serum C9 HP:0012308 Spatulate ribs HP:0012307 Abnormal rib ossification HP:0012306 Coarctation of the descending aortic arch HP:0012305 Hypoplastic aortic arch HP:0012304 Abnormality of the aortic arch HP:0012303 Herpes simplex encephalitis HP:0012302 Type II transferrin isoform profile HP:0012301 Isoelectric focusing of serum transferrin consistent with CDG type II HP:0012301 Abnormal isoelectric focusing of serum transferrin, type II pattern HP:0012301 Abnormal isoelectric focusing of serum transferrin (type 2 pattern) HP:0012301 Ureteral agenesis HP:0012300 Long distal phalanx of finger HP:0012299 Long middle phalanx of finger HP:0012298 Slender proximal phalanx of finger HP:0012297 Slender distal phalanx of finger HP:0012296 Slender middle phalanx of finger HP:0012295 Abnormality of the occipital bone HP:0012294 Abnormal genital pigmentation HP:0012293 Fusion of gums HP:0012292 obsolete Tracheal neoplasm HP:0012291 Mouth neoplasm HP:0012290 Facial neoplasm HP:0012289 Neoplasm of head and neck HP:0012288 Head and neck cancer HP:0012288 Hypothalamic luteinizing hormone-releasing hormone deficiency HP:0012287 Abnormality of the hypothalamus HP:0012286 Abnormality of hypothalamus morphology HP:0012286 Abnormal hypothalamus morphology HP:0012286 Abnormal hypothalamus physiology HP:0012285 Small proximal tibial epiphyses HP:0012284 Small distal femoral epiphysis HP:0012283 Morbilliform rash HP:0012282 Chylous ascites HP:0012281 Chyloperitoneum HP:0012281 Hepatic amyloidosis HP:0012280 Hyposerinemia HP:0012279 Abnormality of serine metabolism HP:0012278 Hypoglycinemia HP:0012277 Digital flexor tenosynovitis HP:0012276 Autosomal dominant inheritance with maternal imprinting HP:0012275 Autosomal dominant inheritance with paternal imprinting HP:0012274 Increased carotid artery intimal medial thickness HP:0012273 Osborne waves HP:0012272 J wave HP:0012272 EKG J waves HP:0012272 Episodic upper airway obstruction HP:0012271 Decreased muscle glycogen content HP:0012270 Abnormal muscle glycogen content HP:0012269 Myxoid liposarcoma HP:0012268 Absent respiratory ciliary axoneme radial spokes HP:0012267 T-wave alternans HP:0012266 Ciliary dyskinesia HP:0012265 Absent central microtubular pair morphology of respiratory motile cilia HP:0012264 Immotile cilia HP:0012263 Abnormal ciliary motility HP:0012262 Abnormal respiratory motile cilium physiology HP:0012261 Abnormal central microtubular pair morphology of respiratory motile cilia HP:0012260 Absent inner and outer dynein arms HP:0012259 Abnormal axonemal organization of respiratory motile cilia HP:0012258 Absent inner dynein arms HP:0012257 Absent outer dynein arms HP:0012256 Dynein arm defect of respiratory motile cilia HP:0012255 Ewing's sarcoma HP:0012254 Ewing sarcoma HP:0012254 Abnormal respiratory epithelium morphology HP:0012253 Abnormal respiratory system morphology HP:0012252 ST segment elevation HP:0012251 ST segment depression HP:0012250 Abnormal ST segment HP:0012249 Prolonged PR interval HP:0012248 Lengthened PR interval on EKG HP:0012248 Electrocardiographic long PR interval HP:0012248 Specific anosmia HP:0012247 Oculomotor neuropathy HP:0012246 Oculomotor nerve palsy HP:0012246 Sex reversal HP:0012245 Abnormal sex determination HP:0012244 Abnormal reproductive system morphology HP:0012243 Abnormal genital system morphology HP:0012243 Superior rectus atrophy HP:0012242 Rectus superior atrophy HP:0012242 Levator palpebrae superioris atrophy HP:0012241 Increased muscle lipid droplets HP:0012240 Increased intramyocellular lipid droplets HP:0012240 Atransferrinemia HP:0012239 Increased chylomicrons HP:0012238 Hyperchylomicronemia HP:0012238 Urocanic aciduria HP:0012237 Elevated sweat chloride HP:0012236 Drug-induced agranulocytosis HP:0012235 Agranulocytosis HP:0012234 Intramuscular hemorrhage HP:0012233 Intramuscular hematomas HP:0012233 Intramuscular hematoma HP:0012233 Intramuscular haematoma HP:0012233 Shortened QT interval HP:0012232 Exudative retinal detachment HP:0012231 Rhegmatogenous retinal detachment HP:0012230 Short digit HP:0011927 Proximal placement of hallux HP:0011926 Proximal placement of big toe HP:0011926 Respiratory complex deficiency, ATPase deficiency HP:0011925 Decreased activity of mitochondrial ATP synthase complex HP:0011925 Respiratory complex III deficiency HP:0011924 Decreased activity of mitochondrial complex III HP:0011924 Respiratory complex I deficiency HP:0011923 Decreased activity of mitochondrial complex I HP:0011923 Abnormal activity of mitochondrial respiratory chain HP:0011922 Exudative pleural effusion HP:0011921 Transudative pleural effusion HP:0011920 Pyothorax HP:0011919 Pleural empyema HP:0011919 Clinodactyly of the 4th toe HP:0011918 4th toe clinodactyly HP:0011918 Short fifth toe HP:0011917 Short 5th toe HP:0011917 Toe extensor amyotrophy HP:0011916 Cardiovascular calcification HP:0011915 Thoracic hypertrichosis HP:0011914 Lumbar hypertrichosis HP:0011913 Abnormality of the glenoid fossa HP:0011912 Abnormality of metacarpophalangeal joint HP:0011911 Shortening of all phalanges of fingers HP:0011910 Flattened metacarpal heads HP:0011909 Parotitis HP:0011850 Abnormal bone ossification HP:0011849 Abdominal colic HP:0011848 Giant cell tumor of bone HP:0011847 Osteoblastoma HP:0011846 Short second metatarsal HP:0011845 Abnormal appendicular skeleton morphology HP:0011844 Abnormality of skeletal physiology HP:0011843 Abnormality of skeletal morphology HP:0011842 Ventricular flutter HP:0011841 Abnormality of T cell physiology HP:0011840 Abnormality of T cell number HP:0011839 Abnormal number of T cells HP:0011839 Sclerodactyly HP:0011838 Partial IgA deficiency HP:0011837 Delayed talus ossification HP:0011836 Absent scaphoid bone HP:0011835 Absent scaphoid HP:0011835 Moyamoya phenomenon HP:0011834 Overhanging nasal tip HP:0011833 Nasal tip, overhanging HP:0011833 Drooping nasal tip HP:0011833 Pinched nasal tip HP:0011832 Nasal tip, pinched HP:0011832 Nasal tip, narrow HP:0011832 Narrow nasal tip HP:0011832 Nasal tip, deviated HP:0011831 Deviated nasal tip HP:0011831 Abnormality of oral mucosa HP:0011830 Philtrum, Narrow HP:0011829 Narrow philtrum HP:0011829 Philtrum, Midline Sinus HP:0011828 Midline sinus of philtrum HP:0011828 Philtral Ridges, Malaligned HP:0011827 Malaligned philtral ridges HP:0011827 Philtrum, Midline Raphe HP:0011826 Philtrum with midline raphe HP:0011826 Tented philtrum HP:0011825 Philtrum, Tented HP:0011825 H-shaped dimple of the chin HP:0011824 Chin, H-shaped groove HP:0011824 Chin, H-Shaped Crease HP:0011824 Chin with H-shaped crease HP:0011824 Chin with horizontal crease HP:0011823 Wide chin HP:0011822 Broad chin HP:0011822 Abnormality of facial skeleton HP:0011821 Membranous choanal atresia HP:0011820 Submucous cleft soft palate HP:0011819 Nasofrontal encephalocele HP:0011818 Naso-frontal encephalocele HP:0011818 Basal encephalocele HP:0011817 Parietal encephalocele HP:0011816 Cephalocele HP:0011815 Increased urinary hypoxanthine HP:0011814 Increased cerebral lipofuscin HP:0011813 Agraphesthesia HP:0011812 Impaired touch localization HP:0011811 Impaired touch localisation HP:0011811 Impaired two-point discrimination HP:0011810 Paradoxical myotonia HP:0011809 Decreased patellar reflexes HP:0011808 Decreased patellar reflex HP:0011808 Type 1 muscle fiber atrophy HP:0011807 Abnormality of muscle morphology HP:0011805 Abnormality of muscle physiology HP:0011804 Bifid nose HP:0011803 Hamartoma of tongue HP:0011802 Hyperplasia of parotid gland HP:0011801 Enlargement of parotid gland HP:0011801 Small midface HP:0011800 Retrusive midface HP:0011800 Midface retrusion HP:0011800 Midface hypoplasia HP:0011800 Midface deficiency HP:0011800 Hypoplasia of midface HP:0011800 Abnormality of facial soft tissue HP:0011799 Renal oncocytoma HP:0011798 Papillary renal cell carcinoma type 1 HP:0011797 Perilobar nephrogenic rests HP:0011796 Perilobar nephroblastomatosis HP:0011796 Intralobar nephrogenic rests HP:0011795 Intralobar nephroblastomatosis HP:0011795 Embryonal renal neoplasm HP:0011794 Neoplasm by anatomical site HP:0011793 Neoplasm by histology HP:0011792 Inactivating thyroid-stimulating hormone receptor (TSHR) defect HP:0011791 Activating thyroid-stimulating hormone receptor (TSHR) defect HP:0011790 Thyroid-stimulating hormone receptor (TSHR) defect HP:0011789 Increased serum free triiodothyronine (fT3) HP:0011788 Central hypothyroidism HP:0011787 Thyrotoxicosis with toxic single thyroid nodule HP:0011786 Thyrotoxicosis with toxic multinodular goitre HP:0011785 Thyrotoxicosis with diffuse goitre HP:0011784 Thyrotoxicosis with diffuse goiter HP:0011784 Thyrotoxicosis from ectopic thyroid tissue HP:0011783 Thyroid crisis HP:0011782 Thyroid C cell hyperplasia HP:0011781 Thyroid hemiagenesis HP:0011780 Anaplastic thyroid carcinoma HP:0011779 Thyroid atypical adenoma HP:0011778 Thyroid papillary adenoma HP:0011777 Thyroid microfollicular adenoma HP:0011776 Thyroid macrofollicular adenoma HP:0011775 Thyroid follicular adenoma HP:0011774 Uninodular goiter HP:0011773 Abnormality of thyroid morphology HP:0011772 Autoimmune hypoparathyroidism HP:0011771 Tertiary hyperparathyroidism HP:0011770 Ectopic parathyroid HP:0011769 Parathyroid dysgenesis HP:0011768 Abnormality of the parathyroid physiology HP:0011767 Abnormality of the parathyroid morphology HP:0011766 obsolete Ectopic anterior pituitary HP:0011765 Pituitary spindle cell oncocytoma HP:0011764 Pituitary carcinoma HP:0011763 Pituitary thyrotropinoma HP:0011762 Pituitary thyrotropic cell adenoma HP:0011762 Silent pituitary adenoma HP:0011761 Pituitary null cell adenoma HP:0011761 Non-functional pituitary adenoma HP:0011761 Hormonally silent pituitary adenoma HP:0011761 Clinically silent pituitary adenoma HP:0011761 Pituitary somatotropinoma HP:0011760 Pituitary growth hormone cell adenoma HP:0011760 Pituitary gonadotropinoma HP:0011759 Pituitary gonadotropic cell adenoma HP:0011759 Pituitary acidophilic stem cell adenoma HP:0011758 Posterior pituitary hypoplasia HP:0011757 Posterior pituitary agenesis HP:0011756 Ectopic posterior pituitary HP:0011755 Pituicytoma HP:0011754 Posterior pituitary dysplasia HP:0011753 Posterior pituitary dysgenesis HP:0011753 Neoplasm of the posterior pituitary HP:0011752 Abnormality of the posterior pituitary HP:0011751 Neoplasm of the anterior pituitary HP:0011750 Adrenocorticotropic hormone excess HP:0011749 ACTH excess HP:0011749 Corticotropin deficiency HP:0011748 Adrenocorticotropic hormone deficiency HP:0011748 ACTH deficiency HP:0011748 Pituitary disease HP:0011747 Abnormality of the anterior pituitary HP:0011747 Secretory adrenocortical adenoma HP:0011746 Secretory adrenal adenoma HP:0011746 Non-secretory adrenocortical adenoma HP:0011745 Non-secretory adrenal adenoma HP:0011745 Secondary hypercorticolism HP:0011744 ACTH-dependent hypercortisolemia HP:0011744 Adrenal gland agenesis HP:0011743 Ectopic adrenal gland HP:0011742 Secondary hyperaldosteronism HP:0011741 Hyperreninemic hyperaldosteronism HP:0011741 Glucocortocoid-insensitive primary hyperaldosteronism HP:0011740 Familial primary hyperaldosteronism type 2 HP:0011740 Glucocorticoid-remediable familial primary aldosteronism HP:0011739 Familial primary hyperaldosteronism type 1 HP:0011739 Dexamethasone-suppresible primary hyperaldosteronism HP:0011739 Corticotropin-releasing hormone receptor (CRHR) resistance HP:0011738 Corticotropin-releasing hormone receptor (CRHR) defect HP:0011738 Tertiary adrenal insufficiency HP:0011737 Corticotropin-releasing hormone (CRH) deficient adrenal insufficiency HP:0011737 Primary hyperaldosteronism HP:0011736 Adrenocorticotropin (ACTH) deficient adrenal insufficiency HP:0011735 Secondary adrenal insufficiency HP:0011734 Central adrenal insufficiency HP:0011734 Abnormality of adrenal physiology HP:0011733 Abnormality of adrenal morphology HP:0011732 Abnormality of circulating cortisol level HP:0011731 Abnormality of central sensory function HP:0011730 Abnormality of joint mobility HP:0011729 Elbow clonus HP:0011728 Peroneal muscle weakness HP:0011727 Persistent fetal circulation HP:0011726 Chaotic multifocal atrial tachycardia HP:0011725 Uhl's anomaly HP:0011724 Congenital malformation of the right heart HP:0011723 Type 4 total anomalous pulmonary venous connection HP:0011722 Mixed total anomalous pulmonary venous connection HP:0011722 Type 3 total anomalous pulmonary venous connection HP:0011721 Infracardiac total anomalous pulmonary venous connection HP:0011721 Type 2 total anomalous pulmonary venous connection HP:0011720 Cardiac total anomalous pulmonary venous connection HP:0011720 Type 1 total anomalous pulmonary venous connection HP:0011719 Supracardiac total anomalous pulmonary venous connection HP:0011719 Abnormality of the pulmonary veins HP:0011718 AV nodal reentry tachycardia HP:0011717 Junctional ectopic tachycardia HP:0011716 Trifascicular block HP:0011715 Abnormal enzyme/coenzyme activity HP:0012379 Fatigue HP:0012378 Hemianopsia HP:0012377 Hemianopia HP:0012377 Microphakia HP:0012376 Chemosis HP:0012375 Motor conduction block HP:0012078 Histrionic personality disorder HP:0012077 Borderline personality disorder HP:0012076 Personality disorder HP:0012075 Tonic pupil HP:0012074 Libman-Sacks lesions HP:0011714 Left bundle branch block HP:0011713 Right bundle-branch block HP:0011712 Right bundle branch block HP:0011712 Left anterior hemiblock HP:0011711 Left anterior fascicular block HP:0011711 Bundle-branch block HP:0011710 Bundle branch block HP:0011710 Atrioventricular dissociation HP:0011709 Mobitz type 2 atrioventricular block HP:0011708 Mobitz II atrioventricular block HP:0011708 Wenckebach block HP:0011707 Mobitz type 1 atrioventricular block HP:0011707 Mobitz I atrioventricular block HP:0011707 Second degree atrioventricular block HP:0011706 First degree atrioventricular block HP:0011705 Sick sinus syndrome HP:0011704 Sinus tachycardia HP:0011703 Abnormal electrophysiology of sinoatrial node origin HP:0011702 Multifocal atrial tachycardia HP:0011701 Ectopic atrial tachycardia HP:0011701 Automatic atrial tachycardia HP:0011700 Atrial reentry tachycardia HP:0011699 Supraventricular tachycardia with a manifest accessory pathway on the septum HP:0011698 Supraventricular tachycardia with a manifest accessory pathway on the right free wall HP:0011697 Supraventricular tachycardia with a manifest accessory pathway on the left free wall HP:0011696 Supracristal ventricular septal defect HP:0011681 Subarterial ventricular septal defect HP:0011681 Infundibular ventricular septal defect HP:0011681 Doubly committed ventricular septal defect HP:0011681 Conal ventricular septal defect HP:0011681 Single ventricle of indeterminate morphology HP:0011680 Tetralogy of Fallot with pulmonary stenosis HP:0011679 Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries HP:0011678 Tetralogy of Fallot with atrioventricular canal defect HP:0011677 Tetralogy of Fallot with absent subarterial conus HP:0011676 Irregular heartbeat HP:0011675 Irregular heart beat HP:0011675 Heart rhythm disorders HP:0011675 Electrocardiographic changes HP:0011675 Ekg abnormalities HP:0011675 EKG abnormality HP:0011675 ECG abnormality HP:0011675 Cardiac rhythm disturbances HP:0011675 Cardiac conduction defects HP:0011675 Cardiac conduction abnormalities HP:0011675 Cardiac arrhythmias HP:0011675 Cardiac arrhythmia HP:0011675 Arrhythmias HP:0011675 Arrhythmia HP:0011675 Abnormality of cardiac conduction HP:0011675 Abnormal electrocardiogram HP:0011675 Cardiac teratoma HP:0011674 Cardiac hemangioma HP:0011673 Cardiac myxoma HP:0011672 Interrupted inferior vena cava with azygous continuation HP:0011671 Left superior vena cava draining to coronary sinus HP:0011670 Left superior vena cava draining directly to the left atrium HP:0011669 Bilateral superior vena cava with no bridging vein HP:0011668 Bilateral superior vena cava with bridging vein HP:0011667 Absent right superior vena cava HP:0011666 Takotsubo cardiomyopathy HP:0011665 Left ventricular noncompaction cardiomyopathy HP:0011664 Left ventricular non-compaction cardiomyopathy HP:0011664 Right ventricular cardiomyopathy HP:0011663 Cardiomyopathy, right ventricular HP:0011663 Cardiomyopathy, esp. right ventricular HP:0011663 Tricuspid atresia HP:0011662 Anomalous origin of left pulmonary artery from ascending aorta HP:0011661 Hemitruncus HP:0011660 Anomalous origin of one pulmonary artery from ascending aorta HP:0011660 Tetralogy of Fallot with absent pulmonary valve syndrome HP:0011659 Tetralogy of Fallot with absent pulmonary valve HP:0011659 Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis HP:0011658 Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis HP:0011657 Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis HP:0011656 Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis HP:0011655 Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis HP:0011654 Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis HP:0011653 Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis HP:0011652 Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis HP:0011651 Bilateral ductus arteriosus HP:0011650 Patent ductus arteriosus after premature birth HP:0011649 Patent ductus arteriosus after birth at term HP:0011648 Postductal coarctation of the aorta HP:0011647 Postductal aortic coarctation HP:0011647 Juxtaductal coarctation of the aorta HP:0011646 Sinus of Valsalva aneurysm HP:0011645 Diverticulum of the coronary sinus HP:0011644 Coronary sinus diverticulum HP:0011644 Coronary sinus atrial septal defect HP:0011643 Abnormality of the coronary sinus HP:0011642 Coronary artery fistula HP:0011641 Single coronary artery origin HP:0011640 Anomalous origin of right coronary artery from the pulmonary artery HP:0011639 Anomalous origin of left coronary artery from the pulmonary artery HP:0011638 Anomalous origin of coronary artery from the pulmonary artery HP:0011637 Abnormal origin of the coronary arteries HP:0011636 Partial diaphragmatic absence of pericardium HP:0011635 Partial left sided absence of pericardium HP:0011634 Complete left sided absence of pericardium HP:0011633 Partial right sided absence of pericardium HP:0011632 Complete right sided absence of pericardium HP:0011631 Complete diaphragmatic absence of pericardium HP:0011630 Total absence of the pericardium HP:0011629 Congenital defect of the pericardium HP:0011628 Aorto-ventricular tunnel HP:0011627 Scimitar syndrome HP:0011626 Scimitar anomaly HP:0011626 Multiple muscular ventricular septal defects HP:0011625 Apical muscular ventricular septal defect HP:0011624 Ventricular septal defect, muscular HP:0011623 Type 4 ventricular septal defect HP:0011623 Muscular ventricular septal defect HP:0011623 Type 3 ventricular septal defect HP:0011622 Inlet ventricular septal defect HP:0011622 Atrioventricular canal type ventricular septal defect HP:0011622 Left ventricular - right atrial communication HP:0011621 Gerbode ventricular septal defect HP:0011621 Abnormality of abdominal situs HP:0011620 Pulmonary situs ambiguus with bilateral morphologic left lungs HP:0011619 Pulmonary situs ambiguus with bilateral morphologic right lungs HP:0011618 Pulmonary situs ambiguus HP:0011617 Pulmonary situs inversus HP:0011616 Abnormality of pulmonary situs HP:0011615 Interrupted aortic arch type C HP:0011614 Interrupted aortic arch type B HP:0011613 Interrupted aortic arch type A HP:0011612 Interrupted aortic arch HP:0011611 Atretic transverse aortic arch HP:0011611 Type IV truncus arteriosus HP:0011610 Type 4 truncus arteriosus HP:0011610 Type III truncus arteriosus HP:0011609 Type 3 truncus arteriosus HP:0011609 Type II truncus arteriosus HP:0011608 Type 2 truncus arteriosus HP:0011608 Transposition of the great arteries with ventricular septal defect HP:0011607 TGA VSD HP:0011607 Transposition of the great arteries with intact ventricular septum HP:0011606 TGA IVS HP:0011606 Congenitally corrected transposition of the great arteries with ventricular septal defect HP:0011605 Aortopulmonary window HP:0011604 Congenital malformation of the great arteries HP:0011603 Midline direction of ventricular apex HP:0011602 Rightward direction of ventricular apex HP:0011601 Abnormal direction of ventricular apex HP:0011600 Mesocardia HP:0011599 Right aortic arch with retroesophageal left subclavian artery HP:0011598 Right aortic arch with anomalous left subclavian artery HP:0011598 Right aortic arch with aberrant left subclavian artery HP:0011598 Right aortic arch with left descending aorta and left ductus arteriosus HP:0011597 Left aortic arch with right descending aorta and right ductus arteriosus HP:0011596 Left aortic arch with retroesophageal right subclavian artery HP:0011595 Right aortic arch with retroesophageal diverticulum of Kommerell HP:0011594 Left aortic arch with retroesophageal diverticulum of Kommerell HP:0011593 Kommerell diverticulum HP:0011593 Left aortic arch with isolated subclavian artery HP:0011592 Left aortic arch with cervical origin of the right subclavian artery HP:0011591 Double aortic arch HP:0011590 Ovine arch HP:0011589 Common origin of the right brachiocephalic artery and left common carotid artery HP:0011589 Common brachiocephalic trunk HP:0011589 Bovine arch HP:0011589 Cervical aortic arch HP:0011588 Abnormal branching pattern of the aortic arch HP:0011587 Thoracoabdominal ectopia cordis HP:0011586 Thoracic ectopia cordis HP:0011585 Thoracocervical ectopia cordis HP:0011584 Cervical ectopia cordis HP:0011583 Abdominal ectopia cordis HP:0011582 Double outlet left ventricle HP:0011581 Short chordae tendineae of the mitral valve HP:0011580 Unbalanced atrioventricular septal defect HP:0011579 Unbalanced atrioventricular canal defect HP:0011579 Transitional atrioventricular canal defect HP:0011578 Partial atrioventricular canal defect HP:0011577 Intermediate atrioventricular canal defect HP:0011576 Imperforate tricuspid valve HP:0011575 Imperforate atrioventricular valve HP:0011574 Hypoplastic tricuspid valve HP:0011573 Supravalvular mitral ring HP:0011572 Supramitral ring HP:0011572 Membranous supravalvular mitral stenosis HP:0011572 Parachute mitral valve HP:0011571 Congenital mitral stenosis HP:0011570 Cleft anterior mitral valve leaflet HP:0011569 Double orifice mitral valve HP:0011568 Sinus venosus atrial septal defect HP:0011567 Cor triatriatum dexter HP:0011566 Common atrium HP:0011565 Mitral valve arcade HP:0011564 Hammock mitral valve HP:0011564 Abnormal ventriculo-arterial connection HP:0011563 Straddling atrioventricular valve HP:0011562 Overriding atrioventricular valve HP:0011561 Mitral valve atresia HP:0011560 Mitral atresia HP:0011560 Double inlet to single ventricle with two atrioventricular valves HP:0011559 Double inlet to single ventricle with common atrioventricular orifice HP:0011558 Double inlet to single ventricle of indeterminate morphology HP:0011557 Double inlet right ventricle HP:0011556 Double inlet left ventricle HP:0011555 Double inlet atrioventricular connection HP:0011554 Discordant atrioventricular connection HP:0011553 Ambiguous atrioventricular connection HP:0011552 Right sided atrium to left ventricle and absent left sided atrioventricular connection HP:0011551 Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection HP:0011550 Univentricular heart with absent left sided atrioventricular connection HP:0011549 Absent right sided atrioventricular connection HP:0011548 Absent left sided atrioventricular connection HP:0011547 Abnormal atrioventricular connection HP:0011546 Abnormal connection of the cardiac segments HP:0011545 L-looping of the right ventricle HP:0011544 Superior-inferior ventricles without criss-cross atrioventricular valves HP:0011543 Criss-cross atrioventricular valves with superior-inferior ventricles HP:0011542 Criss-cross atrioventricular valves HP:0011541 Unilateral radial aplasia HP:0011908 Reduced alpha/beta synthesis ratio HP:0011907 Reduced beta/alpha synthesis ratio HP:0011906 Reduced hemoglobin A HP:0011905 Persistence of hemoglobin F HP:0011904 Increased hemoglobin F HP:0011904 Hemoglobin H HP:0011903 Abnormal hemoglobin HP:0011902 Dysfibrinogenemia HP:0011901 Dysfibrinogenaemia HP:0011901 Hypofibrinogenemia HP:0011900 Hyperfibrinogenemia HP:0011899 Abnormality of circulating fibrinogen HP:0011898 Neutrophillia HP:0011897 Subconjunctival hemorrhage HP:0011896 Subconjunctival haemorrhage HP:0011896 Anemia due to reduced life span of red cells HP:0011895 Anaemia due to reduced life span of red cells HP:0011895 Impaired thromboxane A2 agonist-induced platelet aggregation HP:0011894 Abnormal leukocyte count HP:0011893 Vitamin K deficiency HP:0011892 Post-partum hemorrhage HP:0011891 Post-partum haemorrhage HP:0011891 Prolonged bleeding following procedure HP:0011890 Bleeding with minor or no trauma HP:0011889 Bleeding requiring red cell transfusion HP:0011888 Choroidal Hemorrhage HP:0011887 Choroid hemorrhage HP:0011887 Hyphema HP:0011886 Hemorrhage of the eye HP:0011885 Haemorrhage of the eye HP:0011885 Abnormal umbilical stump bleeding HP:0011884 Abnormal platelet granules HP:0011883 Decreased platelet P2Y12 receptor HP:0011882 Decreased platelet glycoprotein VI HP:0011881 Acute disseminated intravascular coagulation HP:0011880 Decreased platelet glycoprotein Ib-IX-V HP:0011879 Abnormal platelet membrane protein expression HP:0011878 Large platelets HP:0011877 Increased mean platelet volume HP:0011877 Abnormal platelet volume HP:0011876 Abnormal platelet morphology HP:0011875 Heparin-induced thrombocytopenia HP:0011874 Abnormal platelet count HP:0011873 Impaired thrombin-induced platelet aggregation HP:0011872 Impaired ristocetin-induced platelet aggregation HP:0011871 Impaired arachidonic acid-induced platelet aggregation HP:0011870 Abnormal platelet function HP:0011869 Sciatica HP:0011868 Abnormality of the wing of the ilium HP:0011867 Elevated plasma pyrophosphate HP:0011864 Sternal ossification center abnormalities HP:0011863 Abnormal sternal ossification HP:0011863 Abnormal bone collagen fibril morphology HP:0011862 Bilateral trilobed lungs HP:0011861 Metaphyseal dappling HP:0011860 Dappled metaphyseal sclerosis HP:0011860 Punctate keratitis HP:0011859 Reduced factor IX activity HP:0011858 Plasmacytoma HP:0011857 Pica HP:0011856 Pharyngeal edema HP:0011855 Hemoperitoneum HP:0011854 Serous pericardial effusion HP:0011853 Chylopericardium HP:0011852 Hemopericardium HP:0011851 Ventricular inversion HP:0011540 L-transposition HP:0011540 Congenitally corrected transposition of the great arteries HP:0011540 Atrial situs ambiguous HP:0011539 Atrial situs inversus HP:0011538 Left atrial isomerism HP:0011537 Right atrial isomerism HP:0011536 Abnormal atrial arrangement HP:0011535 Abnormal spatial orientation of the cardiac segments HP:0011534 Snowflake vitreoretinal degeneration HP:0011533 Snowflake retinal degeneration HP:0011533 Subretinal exudate HP:0011532 Vitritis HP:0011531 Vitreitis HP:0011531 Hyalitis HP:0011531 Retinal holes HP:0011530 Retinal hole HP:0011530 Multiple bilateral congenital hypertrophy of retinal pigment epithelium HP:0011529 Multiple bilateral CHRPE HP:0011529 Solitary congenital hypertrophy of retinal pigment epithelium HP:0011528 Single isolated congenital hypertrophy of retinal pigment epithelium HP:0011528 Single isolated CHRPE HP:0011528 Lentiglobus HP:0011527 Abnormality of lens shape HP:0011526 Iris nevus HP:0011525 Iris melanoma HP:0011524 Hyperpigmented fundi HP:0011512 Hyperpigmentation of the fundus HP:0011512 Macular schisis HP:0011511 Drusen HP:0011510 Macular hyperpigmentation HP:0011509 Macular hole HP:0011508 Macular flecks HP:0011507 Choroidal neovascularization of the macula HP:0011506 Cystoid macular oedema HP:0011505 Cystoid macular edema HP:0011505 Bull's eye maculopathy HP:0011504 Aplasia of the fovea HP:0011503 Posterior lenticonus HP:0011502 Anterior lenticonus HP:0011501 Polycoria HP:0011500 Mydriasis HP:0011499 Partial aniridia HP:0011498 Iris neovascularization HP:0011497 Corneal vascularization HP:0011496 Corneal neovascularization HP:0011496 Corneal neovascularisation HP:0011496 Abnormality of corneal epithelium HP:0011495 Generalized opacification of the cornea HP:0011494 Generalised opacification of the cornea HP:0011494 Central opacification of the cornea HP:0011493 Abnormality of corneal stroma HP:0011492 Reduced number of corneal endothelial cells HP:0011491 Abnormality of Descemet's membrane HP:0011490 Abnormal migration of corneal endothelium HP:0011489 Abnormality of corneal endothelium HP:0011488 Increased corneal thickness HP:0011487 Abnormality of corneal thickness HP:0011486 Corneolenticular adhesion HP:0011485 Posterior synechiae of the anterior chamber HP:0011484 Posterior synechiae HP:0011484 Iridolenticular adhesions HP:0011484 Cornea-iris adhesion HP:0011483 Anterior synechiae of the anterior chamber HP:0011483 Anterior synechiae HP:0011483 Abnormality of the lacrimal gland HP:0011482 Abnormality of the lacrimal duct HP:0011481 Abnormality of the lacrimal canaliculus HP:0011481 Unilateral microphthalmos HP:0011480 Abnormality of the lacrimal punctum HP:0011479 True anophthalmia HP:0011478 Upbeat nystagmus HP:0011477 Profound sensorineural hearing impairment HP:0011476 Persistent stapedial artery HP:0011475 Childhood onset sensorineural hearing impairment HP:0011474 Villous atrophy HP:0011473 Variable degree of villous atrophy HP:0011473 Small intestine biopsy shows villous atrophy HP:0011473 Duodenal villous atrophy HP:0011473 Biopsy shows villous atrophy HP:0011473 Atrophy of small intestinal villi HP:0011473 Abnormality of small intestinal villus morphology HP:0011472 PEG-fed in infancy HP:0011471 Gastrostomy tube feeding in infancy HP:0011471 Nasogastric tube feeding in infancy HP:0011470 Nasal regurgitation HP:0011469 Facial tics HP:0011468 Aplasia of the gallbladder HP:0011467 Agenesis of the gallbladder HP:0011467 Absent gallbladder HP:0011467 Aplasia/Hypoplasia of the gallbladder HP:0011466 Duodenal aganglionosis HP:0011465 Aganglionosis of the small intestine HP:0011464 Childhood onset HP:0011463 Young adult onset HP:0011462 Fetal onset HP:0011461 Embryonal onset HP:0011460 Esophageal carcinoma HP:0011459 Abdominal symptom HP:0011458 Milphosis HP:0011457 Loss of eyelashes HP:0011457 Ciliary Madarosis HP:0011457 Absent stapes HP:0011456 Absent malleus HP:0011455 Abnormality of the malleus HP:0011454 Abnormality of the incus HP:0011453 Functional abnormality of the middle ear HP:0011452 small skull present at birth HP:0011451 small head present at birth HP:0011451 small head circumference present at birth HP:0011451 small cranium present at birth HP:0011451 microcephaly present at birth HP:0011451 decreased head circumference present at birth HP:0011451 congenital small skull HP:0011451 congenital small head circumference HP:0011451 congenital small head HP:0011451 congenital decreased head circumference HP:0011451 Head circumference small for gestational age HP:0011451 Congenital microcephaly HP:0011451 CNS infection HP:0011450 Patellar clonus HP:0011449 Knee clonus HP:0011449 Ankle clonus HP:0011448 Pelger-Huet anomaly HP:0011447 Hyposegmentation of neutrophil nuclei HP:0011447 Abnormality of higher mental function HP:0011446 Dyskinetic cerebral palsy HP:0011445 Athetoid cerebral palsy HP:0011445 Decorticate rigidity HP:0011444 Abnormality of coordination HP:0011443 Abnormality of central motor function HP:0011442 Abnormality of the myencephalon HP:0011441 Abnormality of the medulla oblongata HP:0011441 Alcohol-induced rhabdomyolysis HP:0011440 Anesthetic-induced rhabdomylosis HP:0011439 Maternal teratogenic exposure HP:0011438 Maternal autoimmune disease HP:0011437 Abnormal maternal serum screening HP:0011436 Low maternal serum PAPP-A HP:0011435 Low maternal serum hCG HP:0011434 Low maternal serum chorionic gonadotropin HP:0011434 High maternal serum hCG HP:0011433 High maternal serum chorionic gonadotropin HP:0011433 High maternal serum alpha-fetoprotein HP:0011432 Fetal fifth finger clinodactyly HP:0011431 Hypoplasia of fetal nasal bone HP:0011430 Short fetal humerus length HP:0011429 Short fetal femur length HP:0011428 Enlarged fetal cisterna magna HP:0011427 Fetal choroid plexus cysts HP:0011426 Fetal ultrasound soft marker HP:0011425 Increased serum zinc HP:0011424 Hyperzincemia HP:0011424 Hyperchloremia HP:0011423 Abnormality of chloride homeostasis HP:0011422 Death in adolescence HP:0011421 Age of death HP:0011420 Placental abruption HP:0011419 Abruptio placentae HP:0011419 Vasa previa HP:0011418 Abnormal insertion of umbilical cord HP:0011418 Long umbilical cord HP:0011417 Placental thromboembolism HP:0011416 Placental infarction HP:0011416 Calcified placenta HP:0011415 Hydrops of the placenta HP:0011414 Hydropic placenta HP:0011414 Shoulder dystocia HP:0011413 Ventouse delivery HP:0011412 Forceps delivery HP:0011411 Caesarian section HP:0011410 Abnormality of placental membranes HP:0011409 Moderate intrauterine growth retardation HP:0011408 Proportionate tall stature HP:0011407 Short-trunk dwarfism, identifiable in infancy HP:0011406 Infancy onset short-trunk short stature HP:0011406 Short-limb dwarfism identifiable during childhood HP:0011405 Childhood onset short-limb short stature HP:0011405 Lethal short-trunk short stature HP:0011404 Lethal short-trunk dwarfism HP:0011404 Abnormal umbilical cord blood vessels HP:0011403 Demyelinating sensory neuropathy HP:0011402 Delayed peripheral myelination HP:0011401 Abnormal formation of myelin sheaths HP:0011400 Abnormal CNS myelination HP:0011400 Tibialis atrophy HP:0011399 Central hypotonia HP:0011398 Abnormality of the dorsal column of the spinal cord HP:0011397 Abnormality of the cochlear nerve HP:0011396 Aplasia/Hypoplasia of the cochlea HP:0011395 Thin vestibular nerve HP:0011394 Hypoplasia of the vestibular nerve HP:0011394 Hypoplasia of the eighth cranial nerve HP:0011394 Hypoplasia of cranial nerve VIII HP:0011394 Aplasia of the vestibular nerve. HP:0011393 Aplasia of the eighth cranial nerve HP:0011393 Aplasia of cranial nerve VIII HP:0011393 Abnormality of the vestibular nerve HP:0011392 Morphological abnormality of the nerves of the inner ear HP:0011391 Morphological abnormality of the inner ear HP:0011390 Functional abnormality of the inner ear HP:0011389 Enlarged cochlear aqueduct HP:0011388 Dilated cochlear aqueduct HP:0011388 Widened vesitbular aqueduct HP:0011387 Enlarged vestibular aqueduct HP:0011387 Dilated vestibular aqueduct HP:0011387 Narrow internal auditory canal HP:0011386 Absent internal auditory canal HP:0011385 Abnormality of the internal auditory canal HP:0011384 Abnormality of the internal acoustic meatus HP:0011384 Enlarged semicircular canal HP:0011383 Dilated semicircular canal HP:0011383 Hypoplasia of the semicircular canals HP:0011382 Hypoplasia of the semicircular canal HP:0011382 Aplasia of the semicircular canal HP:0011381 Morphological abnormality of the semicircular canal HP:0011380 Cerebellar hemorrhage HP:0011695 Supraventricular tachycardia with a manifest accessory pathway HP:0011694 Supraventricular tachycardia with a concealed accessory pathway on the septum HP:0011693 Supraventricular tachycardia with a concealed accessory pathway on the right free wall HP:0011692 Supraventricular tachycardia with a concealed accessory pathway on the left free wall HP:0011691 Permanent junctional reciprocating tachycardia HP:0011690 Supraventricular tachycardia with a concealed accessory connection HP:0011689 Supraventricular tachycardia with an accessory connection mediated pathway HP:0011688 Atrioventricular re-entry tachycardia HP:0011688 Atrioventricular nodal tachycardia HP:0011687 AV nodal tachycardia HP:0011687 Anomalous coronary artery course HP:0011686 Abnormal coronary artery course HP:0011686 Infra-aortic superior vena cava HP:0011685 Non-restrictive ventricular septal defect HP:0011684 Restrictive ventricular septal defect HP:0011683 Ventricular septal defect, perimembranous HP:0011682 Type 2 ventricular septal defect HP:0011682 Perimembranous ventricular septal defect HP:0011682 Paramembranous ventricular septal defect HP:0011682 Membranous ventricular septal defect HP:0011682 Conoventricular ventricular septal defect HP:0011682 Type 1 ventricular septal defect HP:0011681 Dilated vestibule of the inner ear HP:0011379 Hypoplasia of the vestibule of the inner ear HP:0011378 Aplasia of the vestibule HP:0011377 Vestibular abnormality HP:0011376 Morphological abnormality of the vestibule of the inner ear HP:0011376 Cochlear aplasia HP:0011375 Incomplete partition of the cochlea type I HP:0011374 Incomplete partition of the cochlea HP:0011373 Michel deformity HP:0011372 Labyrinthine aplasia HP:0011372 Aplasia of the labyrinth HP:0011372 Aplasia of the inner ear HP:0011372 Recurrent viral skin infections HP:0011371 Recurrent cutaneous fungal infections HP:0011370 Mongolian blue spot HP:0011369 Epidermal thickening HP:0011368 Abnormality of keratinization HP:0011368 Yellow nails HP:0011367 Patchy hypopigmentation of hair HP:0011365 White hair HP:0011364 abnormality of speed of hair growth HP:0011363 abnormality of pace of hair growth HP:0011363 Abnormality of hair growth rate HP:0011363 Abnormal hair quantity HP:0011362 Congenital abnormal hair pattern HP:0011361 Acquired abnormal hair pattern HP:0011360 Shrinking of half of face HP:0011331 Hemifacial atrophy HP:0011331 Facial hemiatrophy HP:0011331 Decrease in size of half of face HP:0011331 Atrophy of half of face HP:0011331 metopic craniosynostosis HP:0011330 Metopic synostosis HP:0011330 Metopic suture craniosynostosis HP:0011330 Abnormality of cranial sutures HP:0011329 Anomaly of the fontanelles HP:0011328 Abnormality of fontanelles HP:0011328 deformational posterior plagiocephaly HP:0011327 Posterior plagiocephaly HP:0011327 Occipital plagiocephaly HP:0011327 deformational frontal plagiocephaly HP:0011326 Anterior plagiocephaly HP:0011326 Pansynostosis HP:0011325 Multisutural craniosynostosis HP:0011324 Multiple suture craniosynostosis HP:0011324 Cleft of chin HP:0011323 Right unilambdoid synostosis HP:0011322 Left unilambdoid synostosis HP:0011321 unilateral lambdoid craniosynostosis HP:0011320 Unilateral lambdoid suture synostosis HP:0011320 Unilambdoid synostosis HP:0011320 bilateral lambdoid craniosynostosis HP:0011319 Bilateral lambdoid suture synostosis HP:0011319 Bilambdoid synostosis HP:0011319 Bilateral coronal suture synostosis HP:0011318 Bilateral coronal suture craniosynostosis HP:0011318 Bilateral coronal craniosynostosis HP:0011318 Bicoronal synostosis HP:0011318 Right unicoronal synostosis HP:0011317 Left unicoronal synostosis HP:0011316 Unilateral coronal suture synostosis HP:0011315 Unilateral coronal suture craniosynostosis HP:0011315 Unilateral coronal craniosynostosis HP:0011315 Unicoronal synostosis HP:0011315 Abnormality of the tubular bones HP:0011314 Abnormality of long bone morphology HP:0011314 Narrow nail HP:0011313 Fused nails HP:0011312 Sydney crease HP:0011311 Transitional palmar crease HP:0011310 Bridged palmar crease HP:0011310 Tapering toes HP:0011309 Tapered toe HP:0011309 Slender toe HP:0011308 Narrow toe HP:0011308 Splayed toes HP:0011307 Partial absence of toe HP:0011305 Hypophalangy of toes HP:0011305 Wide/broad thumb phalanges HP:0011304 Wide/broad thumb HP:0011304 Broad thumbs HP:0011304 Broad thumb HP:0011304 Broad phalanges of the thumb HP:0011304 Convex contour of sole HP:0011303 Long palm HP:0011302 Apodia HP:0011301 Absent foot HP:0011301 Broad fingertips HP:0011300 Broad fingertip HP:0011300 Partial absence of finger HP:0011299 Prominent digit pad HP:0011298 Digital anomalies HP:0011297 Abnormality of digit HP:0011297 EEG with temporal sharp waves HP:0011296 EEG with parietal sharp waves HP:0011295 EEG with frontal sharp waves HP:0011294 EEG with central sharp waves HP:0011293 EEG with occipital sharp waves HP:0011292 EEG with central sharp slow waves HP:0011291 EEG with frontal sharp slow waves HP:0011290 EEG with temporal sharp slow waves HP:0011289 EEG with parietal sharp slow waves HP:0011288 EEG with occipital sharp slow waves HP:0011287 Total colonic aganglionosis HP:0011286 Long-segment aganglionic megacolon HP:0011285 Short-segment aganglionic megacolon HP:0011284 Abnormality of the metencephalon HP:0011283 Abnormality of the hindbrain HP:0011282 Abnormality of hindbrain morphology HP:0011282 Abnormality of urine catecholamine concentration HP:0011281 Abnormality of urine calcium concentration HP:0011280 Abnormality of urine bicarbonate concentration HP:0011279 Intrapulmonary sequestration HP:0011278 Abnormality of the urinary system physiology HP:0011277 Vascular skin abnormality HP:0011276 Vascular abnormalities restricted to skin HP:0011276 Recurrent mycobacterium avium complex infections HP:0011275 Recurrent mycobacterial infections HP:0011274 Anisocytosis HP:0011273 Underdeveloped tragus HP:0011272 Small tragus HP:0011272 Hypotrophic tragus HP:0011272 Hypoplastic tragus HP:0011272 Tragus, prominent HP:0011271 Prominent tragus HP:0011271 Large tragus HP:0011271 Enlarged tragus HP:0011271 Tragus, duplicated HP:0011270 Duplicated tragus HP:0011270 Accesory tragus HP:0011270 Tragus, bifid HP:0011269 Notched tragus HP:0011269 Hypertrophic tragus HP:0011269 Hyperplastic tragus HP:0011269 Bifid tragus HP:0011269 Absent tragus HP:0011268 Third-degree microtia HP:0011267 Microtia, third degree HP:0011267 Microtia, first degree HP:0011266 First-degree microtia HP:0011266 Cleft earlobe HP:0011265 Helix, discontinuous ascending root HP:0011264 Discontinuous ascending root of helix HP:0011264 Lobe, forward facing HP:0011263 Forward facing earlobe HP:0011263 Indented helix HP:0011262 Helix, crimped HP:0011262 Crimped helix HP:0011262 Helix, Darwin tubercle HP:0011261 Darwin tubercle of helix HP:0011261 Helix, Darwin notch HP:0011260 Darwin notch of helix HP:0011260 Helix, crus, expanded terminal portion HP:0011259 Expanded terminal portion of crus of helix HP:0011259 Tragal bridge of crus of helix HP:0011258 Helix, crus, tragal bridge HP:0011258 Serpiginous crus of helix HP:0011257 Helix, crus, serpiginous HP:0011257 Helix, crus, connected to antihelix HP:0011256 Crus of helix connected to antihelix HP:0011256 Helix, crus, absent HP:0011255 Absent crus of helix HP:0011255 Type II cryptotia HP:0011254 Type I cryptotia HP:0011253 hidden ear HP:0011252 buried ear HP:0011252 Cryptotia HP:0011252 Underdeveloped antitragus HP:0011251 Small antitragus HP:0011251 Hypotrophic antitragus HP:0011251 Hypoplastic antitragus HP:0011251 Double antitragus HP:0011250 Bifid antitragus HP:0011250 Absent antitragus HP:0011249 Everted antitragus HP:0011248 Prominent superior crus of antihelix HP:0011247 Hypertrophic superior crus of antihelix HP:0011247 Hyperplastic superior crus of antihelix HP:0011247 Underdeveloped superior crus of antihelix HP:0011246 Hypotrophic superior crus of antihelix HP:0011246 Hypoplastic superior crus of antihelix HP:0011246 Abnormality of superior crus of antihelix HP:0011245 Abnormality of posterior crus of antihelix HP:0011245 Abnormality of stem of antihelix HP:0011244 Abnormality of inferior crus of antihelix HP:0011243 Abnormality of anterior crus of antihelix HP:0011243 Underdeveloped stem of antihelix HP:0011242 Antihelix, stem, underdeveloped HP:0011242 Serpiginous stem of antihelix HP:0011241 Antihelix, stem, serpiginous HP:0011241 Prominent stem of antihelix HP:0011240 Hypertrophic antihelix stem HP:0011240 Hyperplastic antihelix stem HP:0011240 Underdeveloped inferior crus of antihelix HP:0011239 Hypotrophic inferior crus of antihelix HP:0011239 Hypoplastic inferior crus of antihelix HP:0011239 Antihelix, inferior crus, underdeveloped HP:0011239 Prominent inferior crus of antihelix HP:0011238 Hypertrophic inferior crus of antihelix HP:0011238 Hyperplastic inferior crus of antihelix HP:0011238 Antihelix, inferior crus, prominent HP:0011238 Broad inferior crus of antihelix HP:0011237 Antihelix, inferior crus, broad HP:0011237 Angulated antihelix HP:0011236 Additional crus of antihelix HP:0011235 Absent antihelix HP:0011234 Conchal shelf HP:0011233 Antihelical shelf HP:0011233 Infraorbital fold HP:0011232 Infra-orbital fold HP:0011232 Prominent eyelashes HP:0011231 Laterally extended eyebrow HP:0011230 Flared eyebrows HP:0011229 Flared eyebrow HP:0011229 Broad eyebrows HP:0011229 Broad eyebrow HP:0011229 Iris cyst HP:0011523 Protanopia HP:0011522 Deuteranopia HP:0011521 Deuteranomaly HP:0011520 Anomalous trichromacy HP:0011519 Dichromacy HP:0011518 Cone monochromacy HP:0011517 Rod monochromatism HP:0011516 Rod monochromacy HP:0011516 Achromatopsia HP:0011516 Abnormal stereopsis HP:0011515 Abnormality of binocular vision HP:0011514 Retinal cavernous angioma HP:0011513 Hyperpigmented fundus HP:0011512 Straight eyebrows HP:0011228 Straight eyebrow HP:0011228 Horizontal eyebrow HP:0011228 Elevated CRP HP:0011227 Elevated C-reactive protein level HP:0011227 Aplasia/Hypoplasia of the eyelid HP:0011226 Epiblepharon HP:0011225 Aplasia of the eyelids HP:0011224 Absent eyelids HP:0011224 Ablepharon of eyelid HP:0011224 Ablepharon HP:0011224 frontal suture depression HP:0011223 depression of metopic cranial suture HP:0011223 depression of frontal cranial suture HP:0011223 Metopic depression HP:0011223 Depressed glabella HP:0011222 Vertical forehead wrinkles HP:0011221 Vertical forehead rhytids HP:0011221 Vertical forehead creases HP:0011221 Protruding forehead HP:0011220 Prominent forehead HP:0011220 Bulging forehead HP:0011220 Vertical shortening of face HP:0011219 Vertical facial insufficiency HP:0011219 Vertical Facial Deficiency HP:0011219 Short face HP:0011219 Focal autonomic seizures without altered responsiveness HP:0011156 Focal autonomic seizures with altered responsiveness HP:0011155 Focal autonomic seizures HP:0011154 Focal motor seizures HP:0011153 Early onset absence seizures HP:0011152 Obtundation status HP:0011151 Myoclonic absences HP:0011150 Absence seizures with eyelid myoclonia HP:0011149 Absence seizures with special features HP:0011148 Typical absence seizures HP:0011147 Petit mal seizures HP:0011147 Dialeptic seizures HP:0011146 Symptomatic seizures HP:0011145 Age-related posterior subcapsular cataract HP:0011144 Age-related cortical cataract HP:0011143 Age-related nuclear cataract HP:0011142 Age-related cataract HP:0011141 Gastrointestinal duplication HP:0011140 Gastric duplication cyst HP:0011139 Gastric duplication HP:0011139 Abnormality of skin adnexa HP:0011138 Non-pruritic urticaria HP:0011137 Lack of sweat glands HP:0011136 Aplasia of the sweat glands HP:0011136 Absent sweat glands HP:0011136 Aplasia/Hypoplasia of the sweat glands HP:0011135 Low-grade fever HP:0011134 Increased sensitivity to ionizing radiation HP:0011133 Chronic furunculosis HP:0011132 Perianal rash HP:0011131 Abnormality of renal calyx morphology HP:0011130 Bilateral fetal pyelectasis HP:0011129 Acute esophageal necrosis HP:0011128 Perioral eczema HP:0011127 Nephroptosis HP:0011126 Abnormality of dermal melanosomes HP:0011125 Abnormality of epidermal morphology HP:0011124 Skin inflammation HP:0011123 Inflammatory skin disease HP:0011123 Inflammatory abnormality of the skin HP:0011123 Dermatitis HP:0011123 Abnormal tendency to infections of the skin HP:0011123 Abnormality of skin physiology HP:0011122 Abnormality of skin morphology HP:0011121 Ski jump nose HP:0011120 Saddle nose deformity HP:0011120 Saddle nose HP:0011120 Concave nasal ridge HP:0011120 Anomaly of the nasal ridge HP:0011119 Abnormality of the nasal dorsum HP:0011119 Abnormality of tumor necrosis factor secretion HP:0011118 Abnormality of interleukin secretion HP:0011117 Abnormality of interferon secretion HP:0011116 Abnormality of chemokine secretion HP:0011115 Defective production of NFKB1-dependent cytokines HP:0011114 Abnormality of cytokine secretion HP:0011113 Abnormality of serum cytokine level HP:0011112 Abnormality of immune serum protein physiology HP:0011111 Tonsillitis HP:0011110 Sinusitis, chronic HP:0011109 Chronic sinusitis HP:0011109 Sinusitis, recurrent HP:0011108 Recurrent sinusitis HP:0011108 aphthous ulcers HP:0011107 Recurrent aphthous stomatitis HP:0011107 Canker sore HP:0011107 Buccal aphthous ulcers HP:0011107 Aphthous stomatitis HP:0011107 Hypovolemia HP:0011106 Hypervolemia HP:0011105 Abnormality of blood volume homeostasis HP:0011104 Abnormality of the left ventricular outflow tract HP:0011103 Ileal atresia HP:0011102 Intestinal atresia HP:0011100 Spastic hemiplegia HP:0011099 Spastic hemiparesis HP:0011099 Verbal dyspraxia HP:0011098 Speech apraxia HP:0011098 Apraxia of speech HP:0011098 West syndrome HP:0011097 Salaam seizures HP:0011097 Salaam convulsions HP:0011097 Epileptic spasms HP:0011097 Peripheral demyelination HP:0011096 Demyelination HP:0011096 Overjet HP:0011095 Overbite HP:0011094 Molarization of premolar HP:0011093 Mulberry molar HP:0011092 Gemination HP:0011091 Joined teeth HP:0011090 Fused teeth HP:0011090 Double tooth HP:0011089 Dens in dente HP:0011088 Talon cusps HP:0011087 Talon cusp HP:0011087 Dentinogenesis imperfecta of primary and permanent teeth HP:0011086 Hypomature dental enamel HP:0011085 Hypocalcification of dental enamel HP:0011084 Conical maxillary incisor HP:0011083 Pointed primary incisor HP:0011082 Conical primary incisor HP:0011082 Incisor macrodontia HP:0011081 Abnormality of premolar morphology HP:0011080 Retained tooth HP:0011079 Impacted tooth HP:0011079 Abnormality of canine HP:0011078 Abnormality of molar HP:0011077 Abnormality of premolar HP:0011076 Green teeth HP:0011075 Localized hypoplasia of dental enamel HP:0011074 Abnormality of dental color HP:0011073 Rootless teeth HP:0011072 Abnormality of permanent molar morphology HP:0011071 Abnormality of molar morphology HP:0011070 Supernumerary tooth HP:0011069 Supernumerary teeth HP:0011069 Increased number of teeth HP:0011069 Odontomas HP:0011068 Odontoma HP:0011068 Mesiodens HP:0011067 Extra tooth HP:0011067 Pointed incisor HP:0011065 Peg-shaped incisors HP:0011065 Conoid incisor HP:0011065 Conical incisor HP:0011065 Abnormal number of incisors HP:0011064 Abnormality of incisor morphology HP:0011063 Misalignment of incisors HP:0011062 Abnormality of dental structure HP:0011061 Dentinogenesis imperfecta limited to primary teeth HP:0011060 Dentin dysplasia HP:0011060 Localized periodontitis HP:0011059 Generalized periodontitis HP:0011058 Agenesis of second permanent molar HP:0011057 Agenesis of first permanent molar tooth HP:0011056 Agenesis of permanent molar HP:0011055 Agenesis of molar HP:0011054 Absent molars HP:0011054 Agenesis of mandibular premolar HP:0011053 Agenesis of maxillary premolar HP:0011052 Agenesis of premolar HP:0011051 Agenesis of permanent maxillary lateral incisor HP:0011050 Agenesis of primary maxillary lateral incisor HP:0011049 Agenesis of permanent mandibular central incisor HP:0011048 Agenesis of primary mandibular central incisor HP:0011047 Agenesis of primary maxillary central incisor HP:0011046 Agenesis of permanent maxillary central incisor HP:0011045 Abnormal number of permanent teeth HP:0011044 Abnormality of circulating adrenocorticotropin level HP:0011043 Abnormality of potassium homeostasis HP:0011042 Aplasia/Hypoplasia of the cervical spine HP:0011041 Abnormality of the intrahepatic bile duct HP:0011040 Helix abnormal HP:0011039 Abnormality of the helix HP:0011039 Abnormal helices HP:0011039 Abnormality of renal resorption HP:0011038 Decreased urine output HP:0011037 Abnormality of renal excretion HP:0011036 Abnormality of the renal cortex HP:0011035 Amyloidosis HP:0011034 Impairment of fructose metabolism HP:0011033 Abnormality of fluid regulation HP:0011032 Abnormality of iron homeostasis HP:0011031 Abnormality of transition element cation homeostasis HP:0011030 Internal hemorrhage HP:0011029 Blood circulation disorder HP:0011028 Abnormality of blood circulation HP:0011028 Abnormality of the fallopian tube HP:0011027 Aplasia/Hypoplasia of the vagina HP:0011026 Abnormality of cardiovascular system physiology HP:0011025 Gastrointestinal disease HP:0011024 Digestive system disease HP:0011024 Abnormality of the gastrointestinal tract HP:0011024 Abnormality of prostaglandin metabolism HP:0011023 Abnormality of unsaturated fatty acid metabolism HP:0011022 Abnormality of circulating enzyme level HP:0011021 Abnormality of mucopolysaccharide metabolism HP:0011020 Abnormality of chromosome condensation HP:0011019 Abnormality of the cell cycle HP:0011018 Abnormality of cell physiology HP:0011017 Abnormality of urine glucose concentration HP:0011016 Abnormality of blood glucose concentration HP:0011015 Abnormal glucose homeostasis HP:0011014 Abnormality of carbohydrate metabolism/homeostasis HP:0011013 Abnormality of polysaccharide metabolism HP:0011012 Subacute HP:0011011 Chronic HP:0011010 Acute onset HP:0011009 Acute HP:0011009 Dry hair HP:0011359 Generalized hypopigmentation of hair HP:0011358 Abnormality of hair density HP:0011357 Regional abnormality of skin HP:0011356 Localized skin lesion HP:0011355 Generalized abnormality of skin HP:0011354 Generalised abnormality of skin HP:0011354 Intimal fibrosis HP:0011353 Arterial intimal fibrosis HP:0011353 Severe receptive language delay HP:0011352 Moderate receptive language delay HP:0011351 Mild receptive language delay HP:0011350 Abducens palsy HP:0011349 Abnormality of the sixth cranial nerve HP:0011348 Abnormality of ocular abduction HP:0011347 Mild expressive language delay HP:0011346 Moderate expressive language delay HP:0011345 Severe psychomotor retardation HP:0011344 Severe global developmental delay HP:0011344 Psychomotor retardation, moderate HP:0011343 Moderate global developmental delay HP:0011343 Mild global developmental delay HP:0011342 Long upper lip HP:0011341 Incomplete cleft of the upper lip HP:0011340 Forme fruste unilateral cleft lip HP:0011340 Abnormality of upper lip vermillion HP:0011339 Abnormality of mouth shape HP:0011338 Abnormality of mouth size HP:0011337 Temporal skin defect HP:0011336 Bitemporal forceps marks HP:0011336 Hirsute forehead HP:0011335 Frontal hirsutism HP:0011335 Facial shape deformation HP:0011334 Facial shape compression HP:0011334 Asymmetric crying face HP:0011333 Hemifacial hypoplasia HP:0011332 Temporal pattern HP:0011008 Speed of onset HP:0011008 Abnormality of the musculature of the neck HP:0011006 Mixed cirrhosis HP:0011005 Systemic artery abnormality HP:0011004 Arterial abnormalities HP:0011004 Abnormality of the systemic arterial tree HP:0011004 Severely near sighted HP:0011003 Severely close sighted HP:0011003 Severe near sightedness HP:0011003 Severe myopia (> -6.00 diopters) HP:0011003 Severe Myopia HP:0011003 High myopia HP:0011003 Osteopetrosis HP:0011002 Marble bone disease HP:0011002 Albers-Schonberg disease HP:0011002 Osteosclerosis of bones HP:0011001 Osteosclerosis HP:0011001 Increased bone mineral density HP:0011001 Increased bone density HP:0011001 Aplasia/Hypoplasia of the optic tract HP:0011000 Aplasia of the optic tract HP:0010999 Increased susceptibility to spontaneous sister chromatid exchange HP:0010998 Radiation-induced chromosome instability HP:0010997 Chromosomal breakage induced by ionizing radiation HP:0010997 Abnormality of monocarboxylic acid metabolism HP:0010996 Hyperlipoproteinemia HP:0010980 Abnormality of the level of lipoprotein cholesterol HP:0010979 Abnormality of immune system physiology HP:0010978 Abnormality of phagocytes HP:0010977 Reduction in B cell number HP:0010976 Low B cell count HP:0010976 B lymphocytopenia HP:0010976 Abnormality of B cell number HP:0010975 Abnormal numbers of B cells HP:0010975 Abnormal number of b cells HP:0010975 Abnormality of myeloid leukocytes HP:0010974 Ineffective erythropoiesis HP:0010972 Dyserythropoietic anemia HP:0010972 Defective erythropoiesis HP:0010972 Anemia, dyserythropoietic HP:0010972 Anemia of inadequate production HP:0010972 Absence of Lutheran antigen on erythrocytes HP:0010971 Blood group antigen abnormality HP:0010970 Abnormality of glycolipid metabolism HP:0010969 Abnormality of liposaccharide metabolism HP:0010968 Carnitine levels abnormal HP:0010967 Abnormality of carnitine metabolism HP:0010967 abnormality of fatty acid anion HP:0010966 Abnormality of fatty-acid anion metabolism HP:0010966 Abnormality of phytanic acid metabolism HP:0010965 Abnormality of long-chain fatty-acid metabolism HP:0010964 Absence of stomach bubble on fetal sonography HP:0010963 Extralobar sequestration HP:0010962 Intralobar sequestration HP:0010961 Bronchopulmonary sequestration HP:0010960 Cystic adenomatoid lung disease HP:0010959 Congenital cystic disease of the lung HP:0010959 Congenital cystic adenomatoid malformation of the lung HP:0010959 CCAM HP:0010959 Bilateral renal agenesis HP:0010958 Posterior urethral valves HP:0010957 Posterior urethral valve HP:0010957 Congenital posterior urethral valve HP:0010957 Fetal megacystis HP:0010956 Dilatation of the bladder HP:0010955 Hypoplastic right heart HP:0010954 Noncommunicating hydrocephalus HP:0010953 Mild fetal ventriculomegaly HP:0010952 Abnormality of the third ventricle HP:0010951 Abnormality of the fourth ventricle HP:0010950 Abnormality of umbilical vein blood flow HP:0010949 Abnormality of the fetal circulation system HP:0010948 Abnormality of the fetal cardiovascular system HP:0010948 Abnormality of ductus venosus blood flow HP:0010947 Dilatation of the renal pelvis HP:0010946 Mild fetal hydronephrosis HP:0010945 Fetal renal pelvic dilatation HP:0010945 Fetal pyelectasis HP:0010945 Abnormality of the renal pelvis HP:0010944 Echogenic fetal bowel HP:0010943 Echogenic bowel HP:0010943 Echogenic intracardiac focus HP:0010942 Aplasia of the nasal bone HP:0010941 Aplasia/Hypoplasia of the nasal bone HP:0010940 Abnormality of the nasal bone HP:0010939 Abnormality of the external nose HP:0010938 Abnormality of the nasal skeleton HP:0010937 Abnormality of the lower urinary tract HP:0010936 Abnormality of the upper urinary tract HP:0010935 Xanthinuria HP:0010934 Increased urinary xanthine HP:0010934 Abnormality of xanthine metabolism HP:0010933 Abnormality of nucleobase metabolism HP:0010932 Abnormal nucleoside levels HP:0010932 Abnormality of sodium homeostasis HP:0010931 Abnormality of monovalent inorganic cation homeostasis HP:0010930 Abnormality of cation homeostasis HP:0010929 Abnormality of orotic acid metabolism HP:0010928 Abnormality of divalent inorganic cation homeostasis HP:0010927 Needle-shaped cataract HP:0010926 Frosted cataract HP:0010926 Fasciculiform cataract HP:0010926 Aculeiform cataract HP:0010926 Nuclear punctate cataract HP:0010925 Posterior cortical cataract HP:0010924 Anterior subcapsular cataract HP:0010923 Membranous cataract HP:0010922 Coralliform cataract HP:0010921 Zonular cataract HP:0010920 Abnormality of homocysteine metabolism HP:0010919 Abnormality of cysteine metabolism HP:0010918 Abnormality of tyrosine metabolism HP:0010917 Abnormality of alanine metabolism HP:0010916 Abnormality of pyruvate family amino acid metabolism HP:0010915 Abnormality of valine metabolism HP:0010914 Hyperisoleucinemia HP:0010913 Abnormality of isoleucine metabolism HP:0010912 Hyperleucinemia HP:0010911 Hypervalinemia HP:0010910 Abnormality of arginine metabolism HP:0010909 Abnormality of lysine metabolism HP:0010908 Abnormality of proline metabolism HP:0010907 Hyperhistidinemia HP:0010906 Histidinemia HP:0010906 obsolete Abnormality of histidine metabolism HP:0010905 Abnormality of histidine metabolism HP:0010904 Abnormality of glutamine metabolism HP:0010903 Abnormality of glutamine family amino acid metabolism HP:0010902 Abnormality of methionine metabolism HP:0010901 Abnormality of threonine metabolism HP:0010900 Abnormality of aspartate family amino acid metabolism HP:0010899 Abnormality of sarcosine metabolism HP:0010898 Hypersarcosinuria HP:0010897 Hypersarcosinemia HP:0010896 Abnormality of glycine metabolism HP:0010895 Abnormality of serine family amino acid metabolism HP:0010894 Abnormality of phenylalanine metabolism HP:0010893 Abnormality of branched chain family amino acid metabolism HP:0010892 Sherman's Disease HP:0010891 Scheuermann kyphosis HP:0010891 Scheuermann disease HP:0010891 Morbus Scheuermann HP:0010891 Juvenile Osteochondrosis of the spine HP:0010891 Calve disease HP:0010891 Osgood Schlatter disease HP:0010890 Morbus Osgood-Schlatter HP:0010890 Morbus Kienboeck HP:0010889 Lunatomalacia HP:0010889 Kienbock's disease HP:0010889 Morbus Koehler HP:0010888 Osteochondrosis dissecans HP:0010886 Osteochondritis dissecans HP:0010886 Osteonecrosis HP:0010885 Osteochondronecrosis HP:0010885 Ischemic bone necrosis HP:0010885 Bone infarction HP:0010885 Avascular necrosis HP:0010885 Aseptic necrosis HP:0010885 Aseptic bone necrosis HP:0010885 Acromelia HP:0010884 Aortic valve atresia HP:0010883 Aortic atresia HP:0010883 Pulmonary valve atresia HP:0010882 Abnormality of the umbilical cord HP:0010881 Increased nuchal translucency HP:0010880 Postnatal cystic hygroma HP:0010879 Fetal cystic hygroma HP:0010878 Unilateral strabismus HP:0010877 Serum protein abnormality HP:0010876 Blood protein disease HP:0010876 Abnormality of circulating protein level HP:0010876 Chaddock reflex HP:0010875 Tendon xanthomatosis HP:0010874 Tendon xanthomas HP:0010874 Cervical spinal cord atrophy HP:0010873 EKG: T-wave inversion HP:0010872 Spinal ataxia HP:0010871 Sensory ataxia HP:0010871 Ataxia, sensory HP:0010871 Afferent ataxia HP:0010871 Asynergia HP:0010869 Ocular dyssynergia HP:0010868 Dyssynergia HP:0010867 Congenital anterior abdominal wall defect HP:0010866 Abdominal wall defect HP:0010866 Oppositional defiant disorder HP:0010865 Severe mental retardation HP:0010864 Mental retardation, severe HP:0010864 Intellectual disability, severe HP:0010864 Early and severe mental retardation HP:0010864 Receptive language delay HP:0010863 Delayed fine motor development HP:0010862 Incomplete breech presentation HP:0010861 Complete breech presentation HP:0010860 Frank breech presentation HP:0010859 EEG with hyperventilation-induced epileptiform discharges HP:0010858 EEG: periodic abnormalities HP:0010857 EEG with periodic abnormalities HP:0010857 Radmecker complexes HP:0010856 EEG: periodic complexes HP:0010856 EEG with periodic complexes HP:0010856 EEG: localised low amplitude activity HP:0010855 EEG with localized low amplitude activity HP:0010855 EEG: generalised low amplitude activity HP:0010854 EEG with generalized low amplitude activity HP:0010854 EEG: periodic lateralized epileptiform discharges HP:0010853 EEG with periodic lateralized epileptiform discharges HP:0010853 Photoparoxysmal response on EEG HP:0010852 EEG with photoparoxysmal response HP:0010852 EEG with burst suppression HP:0010851 EEG with spike-wave complexes HP:0010850 EEG with spike-wave complexes (>3.5 Hz) HP:0010849 EEG with 3-4-Hz spike waves HP:0010849 EEG with spike-wave complexes (2.5-3.5 Hz) HP:0010848 EEG with spike-wave complexes (<2.5 Hz) HP:0010847 Abnormal shape of the frontal region HP:0011218 Abnormal shape of the occiput HP:0011217 Abnormal shape of the back of the skull HP:0011217 Abnormal shape of the back of the head HP:0011217 Abnormal shape of posterior skull HP:0011217 Abnormal shape of posterior head HP:0011217 Abnormal shape of posterior cranium HP:0011217 Hemihypsarrhythmia HP:0011215 EEG with photoparoxysmal response grade IV HP:0011214 EEG with photoparoxysmal response grade III HP:0011213 EEG with photoparoxysmal response grade II HP:0011212 EEG with photoparoxysmal response grade I HP:0011211 EEG with occipital slowing HP:0011210 Flat line EEG HP:0011209 EEG with generalized slow activity grade 4 HP:0011209 EEG with generalized slow activity grade 3 HP:0011208 EEG with generalized slow activity grade 2 HP:0011207 EEG with generalized slow activity grade 1 HP:0011206 EEG with intermittent slow activity HP:0011205 EEG with continuous slow activity HP:0011204 EEG with abnormally slow frequencies HP:0011203 EEG with diffuse acceleration HP:0011202 EEG with changes in voltage HP:0011201 EEG with generalized polymorphic epileptiform discharges HP:0011200 EEG with generalized sharp slow waves HP:0011199 EEG with generalized epileptiform discharges HP:0011198 EEG with focal spike waves HP:0011197 EEG with focal sharp waves HP:0011196 EEG with focal sharp slow waves HP:0011195 EEG with series of focal spikes HP:0011194 EEG with focal spikes HP:0011193 Polymorphic focal epileptiform discharges HP:0011192 Unilateral multifocal epileptiform discharges HP:0011191 Uni- and bilateral multifocal epileptiform discharges HP:0011190 Bilateral multifocal epileptiform discharges HP:0011189 Focal EEG discharges with secondary generalization HP:0011188 Focal EEG discharges with propagation to ipsilateral hemisphere HP:0011187 Focal epileptiform discharges with limited propagation to contralateral hemisphere HP:0011186 Focal EEG Abnormality HP:0011185 EEG with focal epileptiform discharges HP:0011185 EEG with hyperventilation-induced generalized epileptiform discharges HP:0011184 EEG with hyperventilation-induced focal epileptiform discharges HP:0011183 Epileptiform EEG discharges HP:0011182 Low voltage EEG HP:0011181 Partial beta-EEG HP:0011180 Beta-EEG HP:0011179 Alpha-EEG HP:0011178 EEG with 4-5/second background activity HP:0011177 EEG with constitutional variants HP:0011176 Versive seizures HP:0011175 Hyperkinetic seizures HP:0011174 Hypokinetic seizures HP:0011173 Complex febrile seizures HP:0011172 Simple febrile seizures HP:0011171 Myoclonic atonic seizures HP:0011170 Generalized clonic seizures HP:0011169 Eyelid myoclonias HP:0011168 Focal tonic seizures HP:0011167 Focal myoclonic seizures HP:0011166 Visual auras HP:0011165 Simple partial occipital seizures HP:0011165 Vegetative auras HP:0011164 Autonomic auras HP:0011164 Somatosensory auras HP:0011163 Psychic auras HP:0011162 Olfactory auras HP:0011161 Gustatory auras HP:0011160 Epigastric auras HP:0011159 Auditory auras HP:0011158 Auras HP:0011157 EEG: persistent abnormal rhythmic activity HP:0010846 EEG with persistent abnormal rhythmic activity HP:0010846 EEG: generalized slow activity HP:0010845 EEG: generalised slow activity HP:0010845 EEG with generalized slow activity HP:0010845 EEG with multifocal slow activity HP:0010844 EEG: localized slow activity HP:0010843 EEG: localised slow activity HP:0010843 EEG: focal slow activity HP:0010843 EEG with focal slow activity HP:0010843 Multifocal epileptiform discharges HP:0010841 Multifocal EEG abnormality HP:0010841 Increased urinary copper concentration HP:0010839 High nonceruloplasmin-bound serum copper HP:0010838 Decreased serum ceruloplasmin HP:0010837 Abnormality of copper homeostasis HP:0010836 Abnormal copper levels HP:0010836 Dissociated sensory loss HP:0010835 Trophic changes related to pain HP:0010834 Trophic changes HP:0010834 Spontaneous pain sensation HP:0010833 Abnormality of pain sensation HP:0010832 Impaired proprioception HP:0010831 Abnormality of proprioception HP:0010831 Loss of tactile sensation HP:0010830 Impaired touch sensation HP:0010830 Macular cherry red spot HP:0010729 Cherry red spot of the macula HP:0010729 Aplasia of the retina HP:0010728 Spontaneous rupture of the globe HP:0010727 Visible corneal nerve fibers HP:0010726 Prominent corneal nerve fibers HP:0010726 Advanced pneumatization of the mastoid process HP:0010724 Cystic lesions of the pinnae HP:0010723 Asymmetry of the ears HP:0010722 Asymmetric ears HP:0010722 Abnormal hair whorls HP:0010721 Abnormal hair whorl HP:0010721 abnormal distribution of hair HP:0010720 Abnormal hair pattern HP:0010720 abnormality of hair volume HP:0010719 abnormality of hair curl pattern HP:0010719 abnormality of hair consistency HP:0010719 Abnormality of hair texture HP:0010719 Osseous syndactyly of toes HP:0010717 Osseous syndactyly of the toes HP:0010717 3-5 toe syndactyly HP:0010716 2-5 toe syndactyly HP:0010715 Syndactyly toes 2-4 HP:0010714 Syndactyly of toes 2, 3 and 4 HP:0010714 2-4 toe syndactyly HP:0010714 Syndactyly of all toes HP:0010713 1-5 toe syndactyly HP:0010713 1-4 toe syndactyly HP:0010712 1-2 toe syndactyly HP:0010711 3-5 finger syndactyly HP:0010710 Syndactyly of second to fourth fingers HP:0010709 2-4 finger syndactyly HP:0010709 1-5 finger syndactyly HP:0010708 1-4 finger syndactyly HP:0010707 1-3 finger syndactyly HP:0010706 4-5 finger syndactyly HP:0010705 1-2 finger syndactyly HP:0010704 Raised immunoglobulin levels HP:0010702 Increased serum gamma globulin HP:0010702 Increased immunoglobulin level HP:0010702 Increased gamma globulin HP:0010702 Increased antibody level in blood HP:0010702 Hyperglobulinemia HP:0010702 Hypergammaglobulinemia HP:0010702 Hypergammaglobulinaemia HP:0010702 Elevated immunoglobulin levels HP:0010702 abnormal serum level of immunoglobulin HP:0010701 abnormal serum immunoglobulin concentration HP:0010701 abnormal immunoglobulin concentration HP:0010701 Immunoglobulin abnormality HP:0010701 Abnormal serum immunoglobulin levels HP:0010701 Abnormal immunoglobulin level HP:0010701 Total cataract HP:0010700 Triangular nuclear cataract HP:0010699 cataracta pulverulenta centralis HP:0010698 Pulverulent nuclear cataract HP:0010698 Nuclear pulverulent cataract HP:0010698 Central pulverulent cataract HP:0010698 Pyramidal cataract HP:0010697 Anterior pyramidal cataract HP:0010697 Polar cataract HP:0010696 Sutural cataract HP:0010695 Lamellar pulverulent cataract HP:0010694 Pulverulent Cataract HP:0010693 2-5 finger syndactyly HP:0010692 Mirror image foot polydactyly HP:0010691 Mirror image dupliction of toes HP:0010691 Mirror image hand polydactyly HP:0010690 Mirror image dupliction of fingers HP:0010690 Mirror image polydactyly HP:0010689 Mirror image duplication of digits HP:0010689 Low placental alkaline phosphatase HP:0010688 Low intestinal alkaline phosphatase HP:0010687 Low alkaline phosphatase of hepatic origin HP:0010686 Low alkaline phosphatase of renal origin HP:0010685 Low alkaline phosphatase of bone origin HP:0010684 Low tissue non-specific alkaline phosphatase HP:0010683 Elevated placental alkaline phosphatase HP:0010682 Elevated intestinal alkaline phosphatase HP:0010681 Elevated alkaline phosphatase of renal origin HP:0010680 Elevated tissue non-specific alkaline phosphatase HP:0010679 Elevated alkaline phosphatase, liver/bone/kidney HP:0010679 Enuresis diurna HP:0010678 Nocturnal enuresis HP:0010677 Enuresis nocturna HP:0010677 Mechanical ileus HP:0010676 Abnormality of the mineralisation and ossification of bones of the feet HP:0010675 Abnormal ossification involving bones of the feet HP:0010675 Abnormal foot bone ossification HP:0010675 Abnormality of the curvature of the vertebral column HP:0010674 Abnormality of the third metatarsal bone HP:0010672 Small zygomatic bone HP:0010669 Small malar bone HP:0010669 Small cheekbone HP:0010669 Hypotrophy of the zygomatic bone HP:0010669 Hypotrophy of the cheekbone HP:0010669 Hypoplasia of the zygomatic bone HP:0010669 Cheekbone underdevelopment HP:0010669 Abnormality of the zygomatic bone HP:0010668 Aplasia of the maxilla HP:0010667 Hypoplasia of the anterior nasal spine HP:0010666 Bilateral coxa valga HP:0010665 Undivided thalami HP:0010664 Fusion of the left and right thalami HP:0010664 Fusion of thamali HP:0010664 Fused thalami HP:0010664 Abnormality of the thalamus HP:0010663 Abnormality of thalamus morphology HP:0010663 Abnormality of the diencephalon HP:0010662 Absence of the third cerebral ventricle HP:0010661 Abnormality of the mineralisation and ossification of bones of the hand HP:0010660 Abnormal hand bone ossification HP:0010660 Patchy variation in bone mineral density HP:0010659 Patchy increased and decreased bone mineral density HP:0010659 Patchy changes of bone mineral density HP:0010658 Patchy reduction of bone mineral density HP:0010657 Abnormality of the mineralisation or ossification of the epiphyses HP:0010656 Abnormal epiphyseal ossification HP:0010656 Stippling of the epiphyses HP:0010655 Stippled epiphyses HP:0010655 Epiphyseal stippling HP:0010655 Epiphyseal punctate calcifications HP:0010655 Aplasia of the falx cerebri HP:0010654 Abnormality of the falx cerebri HP:0010653 Abnormality of the cerebral falx HP:0010653 Abnormality of the dura mater HP:0010652 Abnormality of the meninges HP:0010651 Underdevelopment of the primary palate bone HP:0010650 Underdevelopment of the premaxilla HP:0010650 Small primary palate bone HP:0010650 Small premaxilla HP:0010650 Primary palate bone retrusion HP:0010650 Primary palate bone deficiency HP:0010650 Premaxillary underdevelopment HP:0010650 Premaxillary retrusion HP:0010650 Premaxillary bone deficiency HP:0010650 Hypoplasia of the primary palate bone HP:0010650 Hypoplasia of the premaxilla HP:0010650 Hypoplasia of the intermaxillary bone HP:0010650 Flat nasal alae HP:0010649 Translucent skin HP:0010648 Dermal translucency HP:0010648 Abnormal elasticity of skin HP:0010647 Cervical spine instability HP:0010646 Aplasia of the distal phalanges of the toes HP:0010645 Midnasal stenosis HP:0010644 Midnasal atresia or stenosis HP:0010644 Midnasal atresia HP:0010643 Abnormality of the midnasal cavity HP:0010641 Abnormality of the nasal cavity HP:0010640 Increased serum bone-specific alkaline phosphatase HP:0010639 Elevated alkaline phosphatase of bone origin HP:0010639 Elevated alkaline phosphatase of hepatic origin HP:0010638 Conjunctival amyloidosis HP:0010637 Schizencephaly HP:0010636 Partial hyposmia HP:0010635 Total hyposmia HP:0010634 Partial anosmia HP:0010633 Total anosmia HP:0010632 Abnormality of the epiphyses of the feet HP:0010631 Abnormality of the epiphyses of the metatarsals HP:0010630 Abnormality of metatarsal epiphysis HP:0010630 Abnormality of the cortex of the humerus HP:0010629 VII th cranial nerve palsy HP:0010628 Seventh cranial nerve palsy HP:0010628 Facial weakness HP:0010628 Facial palsy, unilateral or bilateral HP:0010628 Facial palsy HP:0010628 Facial nerve paralysis HP:0010628 Facial nerve palsy HP:0010628 Facial muscle weakness of muscles innervated by CN VII HP:0010628 Facial muscle weakness HP:0010628 Cranial nerve VII palsy HP:0010628 Bell's palsy HP:0010628 Hypoplasia of the pituitary gland HP:0010627 Anterior pituitary hypoplasia HP:0010627 Aplasia of the pituitary gland HP:0010626 Anterior pituitary agenesis HP:0010626 Anterior pituitary dysgenesis HP:0010625 Hypoplastic-absent toenails HP:0010624 Aplastic/hypoplastic toenails HP:0010624 Aplastic/hypoplastic toenail HP:0010624 Neoplasm of the skeletal system HP:0010622 Neoplasia of the skeletal system HP:0010622 soft tissue syndactyly of toes HP:0010621 Syndactyly, cutaneous (feet) HP:0010621 Cutaneous syndactyly of toes HP:0010621 Cutaneous syndactyly (feet) HP:0010621 Prominent malar region HP:0010620 Midface hyperplasia HP:0010620 Abnormality of dicarboxylic acid metabolism HP:0010995 Abnormality of the striatum HP:0010994 Abnormality of the cerebral subcortex HP:0010993 Abnormality of the cerebral medulla HP:0010993 Stress urinary incontinence HP:0010992 Abnormality of the abdominal musculature HP:0010991 Abnormality of the common coagulation pathway HP:0010990 Abnormality of the intrinsic pathway HP:0010989 Abnormality of the extrinsic pathway HP:0010988 Abnormality of cellular immune system HP:0010987 Gonosomal inheritance HP:0010985 Digenic inheritance HP:0010984 Oligogenic inheritance HP:0010983 Polygenic inheritance HP:0010982 Hypolipoproteinemia HP:0010981 Malar prominence HP:0010620 Malar hyperplasia HP:0010620 Malar excess HP:0010620 Cheekbone prominence HP:0010620 Fibroadenoma of the breast HP:0010619 Breast fibroadenomas HP:0010619 Breast fibroadenoma HP:0010619 Ovarian fibroma HP:0010618 Cardiac fibroma HP:0010617 Lung fibroma HP:0010616 Angiofibromas HP:0010615 Fibroma HP:0010614 Plantar pits HP:0010612 Palmar pits HP:0010610 Skin tags HP:0010609 Acrochorda HP:0010609 Hordeolum internum HP:0010608 Hordeolum externum HP:0010607 Hordeolum HP:0010606 Meibomian gland lipogranuloma HP:0010605 Chalazion HP:0010605 Cyst of the eyelid HP:0010604 Odontogenic keratocysts of the jaw HP:0010603 Keratocysts of the jaw HP:0010603 Keratocystic odontogenic tumor HP:0010603 Type II muscle fiber predominance HP:0010602 Hamartoma HP:0010566 Aplasia/Hypoplasia of the Epiglottis HP:0010565 Bifid epiglottis HP:0010564 Keloids HP:0010562 Wavy ribs HP:0010561 Undulate ribs HP:0010561 Wavy clavicles HP:0010560 Undulate clavicles HP:0010560 Vertical clivus HP:0010559 Abnormality of the clivus HP:0010558 Overlapping fingers HP:0010557 Cutaneous syndactyly of fingers HP:0010554 Cutaneous syndactyly (hands) HP:0010554 Cutaneous finger syndactyly HP:0010554 Oculogyric crisis HP:0010553 Paraplegia/paraparesis HP:0010551 Paraplegia HP:0010550 Weakness due to upper motor neuron dysfunction HP:0010549 Paralysis due to lesions of the principle motor tracts HP:0010549 Transient swelling of muscle induced by percussion HP:0010548 Percussion myotonia HP:0010548 Muscle flaccidity HP:0010547 Muscle fibrillation HP:0010546 Downbeat nystagmus HP:0010545 Vertical nystagmus HP:0010544 Opsoclonus HP:0010543 Vestibular nystagmus HP:0010542 scalp furrows HP:0010541 scalp folds HP:0010541 Cutis verticis gyrata HP:0010541 Cutis gyrata of scalp HP:0010541 Advanced pneumatization of cranial sinuses HP:0010540 Thin calvarium HP:0010539 small pituitary fossa HP:0010538 small hypophyseal fossa HP:0010538 hypoplasia of sella turcica HP:0010538 hypoplasia of pituitary fossa HP:0010538 hypoplasia of hypophseal fossa HP:0010538 Small sella turcica HP:0010538 open cranial sutures HP:0010537 Widened cranial sutures HP:0010537 Wide cranial sutures HP:0010537 Persistent wide fontanel HP:0010537 Central sleep apnoea HP:0010536 Central sleep apnea HP:0010536 Sleep apnoea HP:0010535 Sleep apnea HP:0010535 Transient global amnesia HP:0010534 Spasmus nutans HP:0010533 Paroxysmal vertigo HP:0010532 Spinal myoclonus HP:0010531 Palatal myoclonus HP:0010530 Echolalia HP:0010529 Prosopagnosia HP:0010528 Facial agnosia HP:0010528 Face blindness HP:0010528 Somatosensory agnosia HP:0010527 Astereognosis HP:0010527 Astereognosia HP:0010527 Dysgraphia HP:0010526 Finger agnosia HP:0010525 Agnosia HP:0010524 Word blindness HP:0010523 Text blindness HP:0010523 Alexia HP:0010523 Reading disability HP:0010522 Dyslexia HP:0010522 Gait apraxia HP:0010521 Increased fetal movement HP:0010519 Fetal hyperkinesia HP:0010519 Thyroglossal duct cyst HP:0010518 Thyroglossal cyst HP:0010518 Ectopic thymus tissue HP:0010517 Thymus hyperplasia HP:0010516 Thymic hypoplasia or aplasia HP:0010515 Aplasia/Hypoplasia of the thymus HP:0010515 Hyperpituitarism HP:0010514 Pituitary calcification HP:0010513 Adrenal calcification HP:0010512 Long toes HP:0010511 Long toe HP:0010511 Increased length of toes HP:0010511 Hypermobility of toe joints HP:0010510 Aplasia of the tarsal bones HP:0010509 Absent tarsals HP:0010509 Metatarsus valgus HP:0010508 Foot asymmetry HP:0010507 Abnormal plantar dermatoglyphics HP:0010506 Abnormal dermatoglyphics on feet HP:0010506 Limitation of movement at ankles HP:0010505 Increased length of the tibia HP:0010504 Fibular duplication HP:0010503 Fibular bowing HP:0010502 Limited knee movement HP:0010501 Limitation of knee mobility HP:0010501 Hyperextensibility of the knee HP:0010500 Subluxation of patella HP:0010499 Patellar subluxation HP:0010499 Bipartite patella HP:0010498 Sympodia HP:0010497 Sirenomelia HP:0010497 Hypertrophy of the lower limb HP:0010496 Amniotic constriction rings of legs HP:0010495 Acromelia of the lower limbs HP:0010494 Long metacarpals HP:0010493 Increased length of metacarpals HP:0010493 Osseous syndactyly of the fingers HP:0010492 Osseous finger syndactyly HP:0010492 Digital constriction ring HP:0010491 Amniotic constriction rings of digits HP:0010491 Abnormality of the palmar creases HP:0010490 Aplasia of the palmar creases HP:0010489 Absent palmar crease HP:0010489 Absence of the palmar creases HP:0010489 Aplasia/Hypoplasia of the palmar creases HP:0010488 Small hypothenar eminence HP:0010487 Hypothenar hypoplasia HP:0010487 Hypoplasia of the hypothenar eminence HP:0010487 Abnormality of the hypothenar eminence HP:0010486 Hyperextensibility at elbow HP:0010485 Hypertrophy of the upper limb HP:0010484 Amniotic constriction rings of arms HP:0010483 Acromelia of the upper limbs HP:0010482 Urethral valve HP:0010481 Urethral fistula HP:0010480 Persistent urachus HP:0010479 Patent urachus HP:0010479 Abnormality of the urachus HP:0010478 Aplasia of the bladder HP:0010477 Aplasia/Hypoplasia of the bladder HP:0010476 Cloacal exstrophy HP:0010475 Bladder stones HP:0010474 Porphyrinuria HP:0010473 Abnormality of the heme biosynthetic pathway HP:0010472 Oligosacchariduria HP:0010471 Supernumerary testes HP:0010470 Polyorchidism HP:0010470 Aplasia of the testes HP:0010469 Aplasia/Hypoplasia of the testes HP:0010468 Precocious puberty in females HP:0010465 Streak ovary HP:0010464 Aplasia of the ovary HP:0010463 Aplasia of the ovaries HP:0010463 Absent ovary HP:0010463 Aplasia/Hypoplasia of the ovary HP:0010462 Abnormality of the male genitalia HP:0010461 Abnormality of the female genitalia HP:0010460 True hermaphroditism HP:0010459 Testicular and ovarian tissue present HP:0010459 Female pseudohermaphroditism HP:0010458 Widening of the sacrosciatic notch HP:0010457 Abnormality of the greater sacrosciatic notch HP:0010456 Steep acetabular roof HP:0010455 Acetabular spurs HP:0010454 Pelvic bone asymmetry HP:0010453 Pelvic asymmetry HP:0010453 Asymmetric pelvis HP:0010453 Ectopic spleen HP:0010452 Ectopia of the spleen HP:0010452 Aplasia/Hypoplasia of the spleen HP:0010451 Esophageal stenosis HP:0010450 Large intestinal atresia HP:0010448 Colonic atresia HP:0010448 Atresia of the large intestine HP:0010448 Fistula in ano HP:0010447 Anal fistula HP:0010447 Tricuspid stenosis HP:0010446 Septum primum defect HP:0010445 Primum atrioventricular canal defect HP:0010445 Primum atrial septal defect HP:0010445 Ostium primum atrial septal defect HP:0010445 Atrial septal defect, primum type HP:0010445 Puolmonary valve insufficiency HP:0010444 Pulmonary insufficiency HP:0010444 Pulmonary incompetence HP:0010444 Bifid femur HP:0010443 Polydactyly HP:0010442 Ectopic accessory finger-like appendage HP:0010441 Ectopic accesory toe-like appendage HP:0010440 Ventricular septum abnormality HP:0010438 Abnormality of the ventricular septum HP:0010438 Short proximal phalanx of the second toe HP:0010437 Short proximal phalanx of the 2nd toe HP:0010437 Hypoplastic/small proximal phalanx of the 2nd toe HP:0010437 Aplasia of the proximal phalanx of the 2nd toe HP:0010436 Short middle phalanx of the second toe HP:0010435 Short middle phalanx of the 2nd toe HP:0010435 Hypoplastic/small middle phalanx of the 2nd toe HP:0010435 Aplasia of the middle phalanx of the 2nd toe HP:0010434 Short distal phalanx of the second toe HP:0010433 Loss of temperature sensation HP:0010829 Impaired temperature sensation HP:0010829 Abnormality of temperature sensation HP:0010829 Hemifacial spasms HP:0010828 Hemifacial spasm HP:0010828 Abnormality of the seventh cranial nerve HP:0010827 Abnormality of the facial nerve HP:0010827 Abnormality of the twelfth cranial nerve HP:0010826 Abnormality of the hypoglossal nerve HP:0010826 Abnormality of the eleventh cranial nerve HP:0010825 Abnormality of the accessory nerve HP:0010825 Abnormality of the trigeminal nerve HP:0010824 Abnormality of the nervus trigeminus HP:0010824 Abnormality of the fifth cranial nerve HP:0010824 cranial suture ridges HP:0010823 Ridged cranial sutures HP:0010823 Scintillating scotoma HP:0010822 Gelastic seizures HP:0010821 Dacrystic seizures HP:0010820 drop seizures HP:0010819 drop attacks HP:0010819 astatic seizures HP:0010819 Hypotonic seizures HP:0010819 Atonic seizures HP:0010819 Hypertonic seizures HP:0010818 Generalized tonic seizures HP:0010818 Linear nevus sebaceous HP:0010817 Epidermal nevus HP:0010816 Sebaceous nevus HP:0010815 Sebaceous naevus HP:0010815 Organoid nevus HP:0010815 Nevus sebaceous HP:0010815 Naevus sebaceous HP:0010815 abnormal location of hair swirl HP:0010814 Abnormal position of hair whorl HP:0010814 supernumary hair whorl HP:0010813 supernumary hair swirls HP:0010813 extra hair whorl HP:0010813 extra hair swirls HP:0010813 double crown (hair whorls) HP:0010813 abnormal number of hair swirls HP:0010813 Abnormal number of hair whorls HP:0010813 Short uvula HP:0010812 Hypoplastic uvula HP:0010812 Narrow uvula HP:0010811 Long uvula HP:0010810 Wide uvula HP:0010809 Broad uvula HP:0010809 Tongue protrusion HP:0010808 Protruding tongue HP:0010808 Open bite HP:0010807 Wide, carp-shaped mouth HP:0010806 U-Shaped upper lip vermilion HP:0010806 Large, carp-shaped mouth HP:0010806 Carp-shaped mouth HP:0010806 Carp-like mouth HP:0010806 Upturned corners of mouth HP:0010805 Tented upper lip vermilion HP:0010804 Tented upper lip HP:0010804 Tented mouth HP:0010804 Inverted V-shaped upper lip HP:0010804 Everted upper lip vermilion HP:0010803 Perioral hyperpigmentation HP:0010802 Underdeveloped nasolabial fold HP:0010801 Nasolabial fold, hypoplastic HP:0010801 Nasolabial crease, underdeveloped HP:0010801 Nasolabial crease, hypoplastic HP:0010801 Absent cupid's bow HP:0010800 Pinealoma HP:0010799 Lip lentigo HP:0010798 Lip freckle HP:0010798 Labial lentigo HP:0010798 Hemangioblastoma HP:0010797 Haemangioblastoma HP:0010797 Brainstem glioma HP:0010796 Cerebellar glioma HP:0010795 Impaired visuospatial constructive cognition HP:0010794 duplicated nail HP:0010793 Bifid nail HP:0010793 Hyperplasia of the Leydig cells HP:0010791 Hyoplasia of the Leydig cells HP:0010790 Abnormality of the Leydig cells HP:0010789 Testicular neoplasm HP:0010788 Testicular neoplasia HP:0010788 Genital neoplasm HP:0010787 Genital neoplasia HP:0010787 Urinary tract neoplasm HP:0010786 Urinary tract neoplasia HP:0010786 Gonadal neoplasm HP:0010785 Gonadal neoplasia HP:0010785 Uterine neoplasm HP:0010784 Uterine neoplasia HP:0010784 Erythema HP:0010783 Shoulder dimples HP:0010782 Skin dimples HP:0010781 Hyperacusis HP:0010780 Large pelvis bone HP:0010779 Large pelvis HP:0010779 Tracheomegaly HP:0010778 Bronchomegaly HP:0010777 Tracheobronchmegaly HP:0010776 Vascular ring of aorta HP:0010775 Vascular ring HP:0010775 Cor triatriatrum HP:0010774 Partial anomalous pulmonary venous return HP:0010773 Anomalous pulmonary venous return HP:0010772 Sacrococcygeal fistula HP:0010771 Pilonidal abscess HP:0010771 Pilonidal fistula HP:0010770 Pilonidal sinus HP:0010769 Pilonidal cyst HP:0010769 Sacrococcygeal pilonidal abnormality HP:0010767 Ectopic calcification HP:0010766 Palmar hyperkeratosis HP:0010765 Short eyelashes HP:0010764 Low insertion of columella HP:0010763 Columella, low insertion HP:0010763 Chordoma HP:0010762 Columella, wide HP:0010761 Columella, broad HP:0010761 Broad columella HP:0010761 Aplasia of toe HP:0010760 Aplasia of the toes HP:0010760 Absent toes HP:0010760 Absent toe HP:0010760 Prominence of the primary palate bone HP:0010759 Prominence of the premaxilla HP:0010759 Prominence of the intermaxillary bone HP:0010759 Anterior position of the primary palate bone HP:0010759 Anterior position of the premaxilla HP:0010759 Abnormality of the primary palate bone HP:0010758 Abnormality of the premaxillary bone HP:0010758 Abnormality of the premaxilla HP:0010758 Abnormality of the intermaxillary segment of the maxilla HP:0010758 Abnormality of the intermaxillary bone HP:0010758 Missing primary palate bone HP:0010757 Missing premaxilla HP:0010757 Aplasia of the primary palate bone HP:0010757 Aplasia of the premaxilla HP:0010757 Aplasia of the intermaxillary bone HP:0010757 Absence of the primary palate bone HP:0010757 Absence of the premaxilla HP:0010757 Absence of the intermaxillary bone HP:0010757 Aplasia/Hypoplasia of the premaxilla HP:0010756 unequal sides of maxilla HP:0010755 Tilted upper jaw HP:0010755 Tilted maxilla HP:0010755 Crooked maxilla HP:0010755 Canted maxilla HP:0010755 Asymmetry of the upper jaw HP:0010755 Asymmetry of the maxilla HP:0010755 Asymmetry of right and left side of the maxilla HP:0010755 Abnormality of the temporomandibular joint HP:0010754 Midline defect of mandible HP:0010753 Cleft mandible HP:0010752 Cleft lower jaw HP:0010752 Chin skin dimple HP:0010751 Chin dimples HP:0010751 Chin dimple HP:0010751 Chin butt HP:0010751 Dermatochalasis HP:0010750 Blepharochalasis HP:0010749 Ectopic lacrimal punctum HP:0010748 Abnormal position of the lacrimal punctum HP:0010748 Medial flaring of the eyebrow HP:0010747 Hypoplasia of the phalanges of the toes HP:0010746 Aplasia of the phalanges of the toes HP:0010745 Aphalangia of the toes HP:0010745 Aplasia of the metatarsal bones HP:0010744 Absent metatarsal bone HP:0010744 Shortened metatarsals HP:0010743 Short metatarsals HP:0010743 Short metatarsal bones HP:0010743 Short metatarsal bone HP:0010743 Short metatarsal HP:0010743 Hypoplastic metatarsals HP:0010743 Hypoplasia of the metatarsal bones HP:0010743 Edema of the upper limbs HP:0010742 Peripheral edema of lower extremity HP:0010741 Leg edema HP:0010741 Edema of the lower limbs HP:0010741 Osteopathia striata HP:0010740 Osteopoikilosis HP:0010739 Monostotic fibrous dysplasia HP:0010736 Polyostotic fibrous dysplasia HP:0010735 Fibrous dysplasia of the bones HP:0010734 Naevus flammeus of the eyelid HP:0010733 Nodular changes affecting the eyelids HP:0010732 Extension of eyebrows towards upper eyelid HP:0010731 Double eyebrow HP:0010730 Short distal phalanx of the 2nd toe HP:0010433 Hypoplastic/small distal phalanx of the 2nd toe HP:0010433 Aplasia of the distal phalanx of the 2nd toe HP:0010432 Absent distal phalanx of the second toe HP:0010432 Absent distal phalanx of the 2nd toe HP:0010432 Short phalanx of the second toe HP:0010431 Short phalanx of the 2nd toe HP:0010431 Hypoplastic/small phalanges of the 2nd toe HP:0010431 Aplasia of the phalanges of the 2nd toe HP:0010430 Complete duplication of the phalanges of the 2nd toe HP:0010429 Partial duplication of phalanx of the 2nd toe HP:0010428 Partial duplication of the middle phalanx of the 2nd toe HP:0010427 Complete duplication of the middle phalanx of the 2nd toe HP:0010426 Partial duplication of the distal phalanx of the 2nd toe HP:0010425 Complete duplication of the distal phalanx of the 2nd toe HP:0010424 Partial duplication of the proximal phalanx of the second toe HP:0010423 Partial duplication of the proximal phalanx of the 2nd toe HP:0010423 Complete duplication of the proximal phalanx of the second toe HP:0010422 Complete duplication of the proximal phalanx of the 2nd toe HP:0010422 Partial/complete duplication of the distal phalanx of the 2nd toe HP:0010421 Duplication of the distal phalanx of the 2nd toe HP:0010421 Triangular shaped distal phalanx of the 2nd toe HP:0010420 Symphalangism affecting the distal phalanx of the 2nd toe HP:0010419 Patchy sclerosis of the distal phalanx of the 2nd toe HP:0010418 Osteolytic defects of the distal phalanx of the 2nd toe HP:0010417 Curved distal phalanx of the 2nd toe HP:0010416 Symphalangism affecting the phalanges of the 3rd toe HP:0010365 Patchy sclerosis of the phalanges of the 3rd toe HP:0010364 Patchy sclerosis of 3rd toe phalanx HP:0010364 Osteolytic defects of the phalanges of the 3rd toe HP:0010363 Curved phalanges of the 3rd toe HP:0010362 Curved 3rd toe phalanx HP:0010362 Bullet-shaped phalanges of the 3rd toe HP:0010361 Bullet-shaped 3rd toe phalanx HP:0010361 Broad phalanges of the 3rd toe HP:0010360 Aplasia/Hypoplasia of the phalanges of the 3rd toe HP:0010359 Abnormality of the proximal phalanx of the 2nd toe HP:0010358 Abnormality of the middle phalanx of the 2nd toe HP:0010357 Abnormality of the distal phalanx of the 2nd toe HP:0010356 Partial/complete duplication of the phalanges of the 2nd toe HP:0010355 Duplication of the phalanges of the 2nd toe HP:0010355 Triangular shaped phalanges of the 2nd toe HP:0010354 Symphalangism affecting the phalanges of the 2nd toe HP:0010353 Patchy sclerosis of the phalanges of the 2nd toe HP:0010352 Patchy sclerosis of 2nd toe phalanx HP:0010352 Osteolytic defects of the phalanges of the 2nd toe HP:0010351 Curved phalanges of the 2nd toe HP:0010350 Curved 2nd toe phalanx HP:0010350 Bullet-shaped phalanges of the 2nd toe HP:0010349 Bullet-shaped 2nd toe phalanx HP:0010349 Broad phalanges of the 2nd toe HP:0010348 Aplasia/Hypoplasia of the phalanges of the 2nd toe HP:0010347 Joint contractures of the 5th toe HP:0010345 Flexion contracture of the 5th toe HP:0010345 Displacement of the 5th toe HP:0010344 Deviation of the 5th toe HP:0010344 Aplasia/Hypoplasia of the 5th toe HP:0010343 Abnormality of the phalanges of the 5th toe HP:0010342 Abnormality of the epiphyses of the 5th toe HP:0010341 Polydactyly affecting the 4th toe HP:0010340 Joint contractures of the 4th toe HP:0010339 Flexion contracture of the 4th toe HP:0010339 Displacement of the 4th toe HP:0010338 Deviation of the 4th toe HP:0010338 Aplasia/Hypoplasia of the 4th toe HP:0010337 Abnormality of the phalanges of the 4th toe HP:0010336 Abnormality of the epiphyses of the 4th toe HP:0010335 Polydactyly affecting the 3rd toe HP:0010334 Joint contractures of the 3rd toe HP:0010333 Flexion contracture of 3rd toe HP:0010333 Displacement of the 3rd toe HP:0010332 Deviation of the 3rd toe HP:0010332 Aplasia/Hypoplasia of the 3rd toe HP:0010331 Absent/hypoplastic third toe HP:0010331 Abnormality of the phalanges of the 3rd toe HP:0010330 Abnormality of the epiphyses of the 3rd toe HP:0010329 Polydactyly affecting the 2nd toe HP:0010328 Joint contractures of the 2nd toe HP:0010327 Flexion contracture of the 2nd toe HP:0010327 Displacement of the 2nd toe HP:0010326 Deviation of the 2nd toe HP:0010326 Aplasia/Hypoplasia of the 2nd toe HP:0010325 Abnormality of phalanx of the 2nd toe HP:0010324 Abnormality of the epiphyses of the 2nd toe HP:0010323 Abnormality of the 5th toe HP:0010322 Abnormality of the 4th toe HP:0010321 Abnormality of the 3rd toe HP:0010320 Abnormality of the 2nd toe HP:0010319 Aplasia/Hypoplasia of the abdominal wall musculature HP:0010318 Scapular aplasia HP:0010317 Absent scapula HP:0010317 Ebstein's malformation HP:0010316 Ebstein's anomaly of the tricuspid valve HP:0010316 Ebstein's anomaly HP:0010316 Aplasia/Hypoplasia of the diaphragm HP:0010315 Premature thelarche HP:0010314 Hypertrophy of the breasts HP:0010313 Breast hypertrophy HP:0010313 Asymmetry of the breasts HP:0010312 Aplasia/Hypoplasia of the breasts HP:0010311 Chylothorax HP:0010310 Bifid sternum HP:0010309 Asternia HP:0010308 Stridor HP:0010307 Short thorax HP:0010306 Absent sacrum HP:0010305 Absence of the sacrum HP:0010305 Spinal meningeal diverticulum HP:0010304 Abnormality of the spinal meninges HP:0010303 Tumor of the spinal cord HP:0010302 Spinal tumors HP:0010302 Spinal tumor HP:0010302 Spinal cord tumor HP:0010302 Spinal dysraphism HP:0010301 Neural tube defect HP:0010301 Incomplete closure of the vertebral arch HP:0010301 Abnormally low-pitched voice HP:0010300 Abnormality of dentin HP:0010299 Abnormal dentin HP:0010299 Smooth tongue HP:0010298 Split tongue HP:0010297 Bifid tongue HP:0010297 Tongue tie HP:0010296 Ankyloglossia HP:0010296 Aplasia/Hypoplasia of the tongue HP:0010295 Palate fistula HP:0010294 Aplasia/Hypoplasia of the uvula HP:0010293 Uvula aplasia HP:0010292 Congenital absence of uvula HP:0010292 Absent uvula HP:0010292 Prominent palatine ridges HP:0010291 Prominent palatine folds HP:0010291 Prominent lateral palatal ridges HP:0010291 Short palate HP:0010290 Short hard palate HP:0010290 Hypoplastic palate HP:0010290 Alveolar ridge cleft HP:0010289 Abnormality of the sublingual glands HP:0010288 Abnormality of the submandibular glands HP:0010287 Salivary gland disease HP:0010286 Abnormality of the salivary glands HP:0010286 Oral synechia HP:0010285 Intra-oral hyperpigmentation HP:0010284 Thin lower lip vermilion HP:0010282 Thin lower lip HP:0010282 Cleft of the lower lip HP:0010281 Cleft lower lip HP:0010281 Stomatitis HP:0010280 Triangular epiphyses of the proximal phalanges of the hand HP:0010278 Stippling of the epiphyses of the proximal phalanges of the hand HP:0010277 Small epiphyses of the proximal phalanges of the hand HP:0010276 Pseudoepiphyses of the proximal phalanges of the hand HP:0010275 Ivory epiphyses of the proximal phalanges of the hand HP:0010274 Irregular epiphyses of the proximal phalanges of the hand HP:0010273 Fragmentation of the epiphyses of the proximal phalanges of the hand HP:0010272 Enlarged epiphyses of the proximal phalanges of the hand HP:0010271 Cone-shaped epiphyses of the proximal phalanges of the hand HP:0010270 Bracket epiphyses of the proximal phalanges of the hand HP:0010269 Absent epiphyses of the proximal phalanges of the hand HP:0010268 Triangular epiphyses of the middle phalanges of the hand HP:0010267 Stippling of the epiphyses of the middle phalanges of the hand HP:0010266 Small epiphyses of the middle phalanges of the hand HP:0010265 Pseudoepiphyses of the middle phalanges of the hand HP:0010264 Ivory epiphyses of the middle phalanges of the hand HP:0010263 Irregular epiphyses of the middle phalanges of the hand HP:0010262 Fragmentation of the epiphyses of the middle phalanges of the hand HP:0010261 Enlarged epiphyses of the middle phalanges of the hand HP:0010260 Cone-shaped epiphyses of the middle phalanges of the hand HP:0010259 Cone-shaped epiphyses of middle phalanges HP:0010259 Bracket epiphyses of the middle phalanges of the hand HP:0010258 Absent epiphyses of the middle phalanges of the hand HP:0010257 Triangular epiphyses of the distal phalanges of the hand HP:0010256 Stippling of the epiphyses of the distal phalanges of the hand HP:0010255 Small epiphyses of the distal phalanges of the hand HP:0010254 Pseudoepiphyses of the distal phalanges of the hand HP:0010253 Ivory epiphyses of the distal phalanges of the hand HP:0010252 Eburnated epiphyses of distal phalanges HP:0010252 Irregular epiphyses of the distal phalanges of the hand HP:0010251 Fragmentation of the epiphyses of the distal phalanges of the hand HP:0010250 Enlarged epiphyses of the distal phalanges of the hand HP:0010249 Cone-shaped epiphyses of the distal phalanges of the hand HP:0010248 Bracket epiphyses of the distal phalanges of the hand HP:0010247 Absent epiphyses of the distal phalanges of the hand HP:0010246 Abnormality of the epiphyses of the proximal phalanges of the hand HP:0010245 Abnormality of the epiphyses of the middle phalanges of the hand HP:0010244 Abnormality of the epiphyses of the distal phalanx of finger HP:0010243 Aplasia of the proximal phalanges of the hand HP:0010242 Absent proximal phalanges HP:0010242 Shortening in proximal phalanges HP:0010241 Short proximal phalanx of finger HP:0010241 Short proximal phalanges HP:0010241 Hypoplasia of the proximal phalanges of the hand HP:0010241 Missing middle phalanges HP:0010239 Aplasia of the middle phalanx of the hand HP:0010239 Absent middle phalanges HP:0010239 Triangular epiphyses of the phalanges of the hand HP:0010238 Triangular epiphyses of the fingers HP:0010238 Delta-shaped epiphyses of the fingers HP:0010238 Stippling of the epiphyses of the phalanges of the hand HP:0010237 Stippling of the epiphyses of the fingers HP:0010237 Epiphyseal stippling of finger phalanges HP:0010237 Small epiphyses of the phalanges of the hand HP:0010236 Small epiphyses of the fingers HP:0010236 Pseudoepiphysis of the fingers HP:0010235 Pseudoepiphyses of the phalanges of the hand HP:0010235 Sclerotic ivory phalangeal epiphyses HP:0010234 Ivory epiphyses of the phalanges of the hand HP:0010234 Ivory epiphyses of the fingers HP:0010234 Irregular epiphyses of the phalanges of the hand HP:0010233 Irregular epiphyses of the fingers HP:0010233 Fragmentation of the epiphyses of the phalanges of the hand HP:0010232 Fragmentation of the epiphyses of the fingers HP:0010232 Enlarged phalangeal epiphyses HP:0010231 Enlarged epiphyses of the phalanges of the hand HP:0010231 Enlarged epiphyses of the fingers HP:0010231 Phalangeal cone-shaped epiphyses HP:0010230 Impaired tactile sensation HP:0010830 Type 2 muscle fiber predominance HP:0010602 Abnormality of the proximal ulnar epiphysis HP:0010601 Abnormality of the distal ulnar epiphysis HP:0010600 Abnormality of the distal humeral epiphysis HP:0010599 Abnormality of the proximal humeral epiphysis HP:0010598 Abnormality of the distal radial epiphysis HP:0010597 Abnormality of the proximal radial epiphysis HP:0010596 Abnormality of the distal fibular epiphysis HP:0010595 Abnormality of the proximal fibular epiphysis HP:0010594 Abnormality of fibular epiphyses HP:0010593 Abnormality of the distal tibial epiphysis HP:0010592 Abnormality of the proximal tibial epiphysis HP:0010591 Abnormality of the distal femoral epiphysis HP:0010590 Premature epimetaphyseal fusion HP:0010588 Premature closure of epiphyses HP:0010588 Triangular epiphyses HP:0010587 Small epiphyses HP:0010585 Pseudoepiphyses HP:0010584 Ivory epiphyses HP:0010583 Epiphyseal sclerosis HP:0010583 Irregular epiphyses HP:0010582 Widened, distorted epiphyses HP:0010580 Large epiphyses HP:0010580 Enlarged epiphyses HP:0010580 Cone-shaped epiphysis HP:0010579 Cone-shaped epiphyses HP:0010579 Bracket epiphyses HP:0010578 Absent epiphyses HP:0010577 Intracranial cystic lesion HP:0010576 Cerebral cystic malformation HP:0010576 Dysplastic femoral head HP:0010575 Dysplasia of the femoral head HP:0010575 Abnormality of the proximal femoral epiphysis HP:0010574 Abnormality of the epiphysis of the femoral head HP:0010574 Elevated levels of phytanic acid HP:0010571 Low maternal serum alpha-fetoprotein HP:0010570 Elevated levels of cholesta-5,7-dien-3beta-ol HP:0010569 Elevated 7-dehydrocholesterol HP:0010569 Hamartoma of the eye HP:0010568 Y-shaped metatarsals HP:0010567 Conical phalangeal epiphyses HP:0010230 Coned epiphyses of hands HP:0010230 Coned epiphyses HP:0010230 Cone-shaped phalangeal epiphyses HP:0010230 Cone-shaped epiphyses of the phalanges of the hand HP:0010230 Cone-shaped epiphyses of the fingers HP:0010230 Cone-shaped epiphyses of phalanges HP:0010230 Cone-shaped epiphyses (hand) HP:0010230 Bracket epiphyses of the phalanges of the hand HP:0010229 Bracket epiphyses of the fingers HP:0010229 Absent epiphyses of the phalanges of the hand HP:0010228 Absent epiphyses of the fingers HP:0010228 Pseudoepiphysis of the 5th metacarpal HP:0010227 Abnormality of the epiphysis of the 5th metacarpal HP:0010226 Pseudoepiphysis of the 4th metacarpal HP:0010225 Abnormality of the epiphysis of the 4th metacarpal HP:0010224 Pseudoepiphysis of the 3rd metacarpal HP:0010223 Abnormality of the epiphysis of the 3rd metacarpal HP:0010222 Pseudoepiphysis of the 2nd metacarpal HP:0010221 Abnormality of the epiphysis of the 2nd metacarpal HP:0010220 Structural foot deformity HP:0010219 Contractures of the metatarsophalangeal joint of the hallux HP:0010215 Contracture of the interphalangeal joint of the hallux HP:0010214 Contracture of the tarsometatarsal joint of the hallux HP:0010213 Joint contracture of the hallux HP:0010212 Flexion contracture of the hallux HP:0010212 Abnormality of the distal phalanges of the toes HP:0010182 Partial/complete duplication of the phalanges of the toes HP:0010181 Duplication of phalanx of toe HP:0010181 Triangular shaped phalanges of the toes HP:0010180 Symphalangism affecting the phalanges of the toes HP:0010179 Patchy sclerosis of toe phalanx HP:0010178 Patchy sclerosis of the phalanges of the toes HP:0010178 Osteolytic defects of the phalanges of the toes HP:0010177 Curved toe phalanx HP:0010176 Curved phalanges of the toes HP:0010176 Bullet-shaped toe phalanx HP:0010175 Bullet-shaped phalanges of the toes HP:0010175 Broad phalanx of the toes HP:0010174 Aplasia/Hypoplasia of the phalanges of the toes HP:0010173 Triangular epiphyses of the toes HP:0010172 Stippling of the epiphyses of the toes HP:0010171 Epiphyseal stippling of toe phalanges HP:0010171 Small epiphyses of the toes HP:0010170 Pseudoepiphyses of the toes HP:0010169 Ivory epiphyses of the toes HP:0010168 Irregular epiphyses of the toes HP:0010167 Fragmentation of the epiphyses of the toes HP:0010166 Enlarged epiphyses of the toes HP:0010165 Cone-shaped epiphyses of the toes HP:0010164 Bracket epiphyses of the toes HP:0010163 Absent epiphyses of the toes HP:0010162 Abnormality of the phalanges of the toes HP:0010161 Abnormality of the epiphyses of the toes HP:0010160 Triangular epiphysis of the 1st metatarsal HP:0010159 Stippling of the epiphysis of the 1st metatarsal HP:0010158 Small epiphysis of the 1st metatarsal HP:0010157 Pseudoepiphysis of the 1st metatarsal HP:0010156 Ivory epiphysis of the 1st metatarsal HP:0010155 Irregular epiphysis of the 1st metatarsal HP:0010154 Fragmentation of the epiphysis of the 1st metatarsal HP:0010153 Enlarged epiphysis of the 1st metatarsal HP:0010152 Cone-shaped epiphysis of the 1st metatarsal HP:0010151 Bracket epiphysis of the 1st metatarsal HP:0010150 Absent epiphysis of the 1st metatarsal HP:0010149 Triangular epiphysis of the distal phalanx of the hallux HP:0010148 Stippling of the epiphysis of the distal phalanx of the hallux HP:0010147 Small epiphysis of the distal phalanx of the hallux HP:0010146 Pseudoepiphysis of the distal phalanx of the hallux HP:0010145 Ivory epiphysis of the distal phalanx of the hallux HP:0010144 Irregular epiphysis of the distal phalanx of the hallux HP:0010143 Fragmentation of the epiphysis of the distal phalanx of the hallux HP:0010142 Enlarged epiphysis of the distal phalanx of the hallux HP:0010141 Cone-shaped epiphysis of the distal phalanx of the hallux HP:0010140 Bracket epiphysis of the distal phalanx of the hallux HP:0010139 Absent epiphysis of the distal phalanx of the hallux HP:0010138 Triangular epiphysis of the proximal phalanx of the hallux HP:0010137 Stippling of the epiphysis of the proximal phalanx of the hallux HP:0010136 Small epiphysis of the proximal phalanx of the hallux HP:0010135 Pseudoepiphysis of the proximal phalanx of the hallux HP:0010134 Ivory epiphysis of the proximal phalanx of the hallux HP:0010133 Irregular epiphysis of the proximal phalanx of the hallux HP:0010132 Fragmentation of the epiphysis of the proximal phalanx of the hallux HP:0010131 Enlarged epiphysis of the proximal phalanx of the hallux HP:0010130 Cone-shaped epiphysis of the proximal phalanx of the hallux HP:0010129 Bracket epiphysis of the proximal phalanx of the hallux HP:0010128 Absent epiphysis of the proximal phalanx of the hallux HP:0010127 Abnormality of the epiphysis of the proximal phalanx of the hallux HP:0010126 Abnormality of the epiphysis of the 1st metatarsal HP:0010125 Abnormality of the epiphysis of the distal phalanx of the hallux HP:0010124 Triangular epiphyses of the hallux HP:0010123 Stippling of the epiphyses of the hallux HP:0010122 Small epiphyses of the hallux HP:0010121 Pseudoepiphyses of the hallux HP:0010120 Ivory epiphyses of the hallux HP:0010119 Irregular epiphyses of the hallux HP:0010118 Fragmentation of the epiphyses of the hallux HP:0010117 Enlarged epiphyses of the hallux HP:0010116 Cone-shaped epiphyses of the hallux HP:0010115 Bracket epiphyses of the hallux HP:0010114 Absent hallux epiphysis HP:0010113 Absent epiphyses of the hallux HP:0010113 Mesoaxial foot polydactyly HP:0010112 Central polydactyly (feet) HP:0010112 Short phalanx of hallux HP:0010111 Hypoplastic phalanges of the hallux HP:0010111 Aplasia of the phalanges of the hallux HP:0010110 Small hallux HP:0010109 Short hallux HP:0010109 Short halluces HP:0010109 Hypoplastic hallux HP:0010109 Hypoplastic big toes HP:0010109 Small proximal phalanx of hallux HP:0010107 Small proximal phalanx of big toe HP:0010107 Short proximal phalanx of hallux HP:0010107 Short proximal phalanx of halluces HP:0010107 Short proximal phalanges of halluces HP:0010107 Hypoplastic proximal phalanx of the hallux HP:0010107 Aplasia of the proximal phalanx of the hallux HP:0010106 Short first metatarsal HP:0010105 First metatarsals hypoplastic HP:0010105 First metatarsal hypoplasia HP:0010105 Aplasia of the 1st metatarsal HP:0010104 Absent first metatarsal HP:0010104 Absent 1st metatarsal HP:0010104 Small distal phalanx of hallux HP:0010103 Small distal phalanx of big toe HP:0010103 Short distal phalanx of hallux HP:0010103 Hypoplastic/small distal phalanx of the hallux HP:0010103 Aplasia of the distal phalanx of the hallux HP:0010102 partial duplication of hallux HP:0010101 Partial duplication of the phalanges of the hallux HP:0010101 Complete duplication of the phalanges of the hallux HP:0010100 Complete duplication of hallux phalanx HP:0010100 Partial duplication of the 1st metatarsal HP:0010099 Complete duplication of the 1st metatarsal HP:0010098 Partial duplication of the distal phalanx of the hallux HP:0010097 Bifid distal phalanx of hallux HP:0010097 Complete duplication of the distal phalanx of the hallux HP:0010096 Partial duplication of the proximal phalanx of the hallux HP:0010095 Complete duplication of the proximal phalanx of the hallux HP:0010094 Duplication of the proximal phalanx of the hallux HP:0010093 Triangular shaped proximal phalanx of the hallux HP:0010092 Symphalangism affecting the proximal phalanx of the hallux HP:0010091 Patchy sclerosis of the proximal phalanx of the hallux HP:0010090 Osteolytic defects of the proximal phalanx of the hallux HP:0010089 Curved proximal phalanx of the hallux HP:0010088 Bullet-shaped proximal phalanx of the hallux HP:0010087 Broad proximal phalanx of the hallux HP:0010086 Broad proximal phalanx of the big toe HP:0010086 Aplasia/Hypoplasia of the proximal phalanx of the hallux HP:0010085 Partial/complete duplication of the distal phalanx of the hallux HP:0010084 Duplication of the distal phalanx of the hallux HP:0010084 Triangular shaped distal phalanx of the hallux HP:0010083 Symphalangism affecting the distal phalanx of the hallux HP:0010082 Patchy sclerosis of the distal phalanx of the hallux HP:0010081 Osteolytic defects of the distal phalanx of the hallux HP:0010080 Curved distal phalanx of the hallux HP:0010079 Bullet-shaped distal phalanx of the hallux HP:0010078 Broad distal phalanx of the hallux HP:0010077 Aplasia/Hypoplasia of the distal phalanx of the hallux HP:0010076 Duplication of the 1st metatarsal HP:0010075 Duplicated first metatarsals HP:0010075 Triangular shaped 1st metatarsal HP:0010074 Synostosis involving the 1st metatarsal HP:0010073 Patchy sclerosis of the 1st metatarsal HP:0010072 Osteolytic defects of the 1st metatarsal HP:0010071 Curved 1st metatarsal HP:0010070 Bullet-shaped 1st metatarsal HP:0010069 Enlarged first metatarsal HP:0010068 Broad first metatarsal HP:0010068 Broad 1st metatarsal HP:0010068 Aplasia/hypoplasia of the 1st metatarsal HP:0010067 Partial/complete duplication of the phalanges of the hallux HP:0010066 Hallucal duplication HP:0010066 Duplication of phalanx of hallux HP:0010066 Duplication of phalanx of big toe HP:0010066 Duplication of great toes HP:0010066 Duplicated hallux HP:0010066 Triangular shaped phalanges of the hallux HP:0010065 hallucal symphalangism HP:0010064 Symphalangism affecting the phalanges of the hallux HP:0010064 Patchy sclerosis of the phalanges of the hallux HP:0010063 Patchy sclerosis of hallux phalanx HP:0010063 Osteolytic defects of the phalanges of the hallux HP:0010062 Curved phalanges of the hallux HP:0010061 Curved hallux phalanx HP:0010061 Bullet-shaped phalanges of the hallux HP:0010060 Bullet-shaped hallux phalanx HP:0010060 Broad phalanges of the hallux HP:0010059 Broad hallux phalanx HP:0010059 Aplasia/Hypoplasia of the phalanges of the hallux HP:0010058 Abnormality of the phalanges of the hallux HP:0010057 Abnormality of the epiphyses of the hallux HP:0010056 Broad hallux HP:0010055 Broad halluces HP:0010055 Broad great toes HP:0010055 Broad great toe HP:0010055 Abnormally broad great toes HP:0010055 Abnormality of the first metatarsal bone HP:0010054 Abnormality of the distal phalanx of the hallux HP:0010053 Abnormality of the proximal phalanx of the hallux HP:0010052 Displacement of the hallux HP:0010051 Deviation of the hallux HP:0010051 Shortening of metacarpals HP:0010049 Shortened metacarpals HP:0010049 Short metacarpals HP:0010049 Short metacarpal bones HP:0010049 Short metacarpal HP:0010049 Metacarpal hypoplasia HP:0010049 Hypoplastic metacarpal HP:0010049 Aplasia of metacarpal bones HP:0010048 Absent metacarpals HP:0010048 Absent metacarpal HP:0010048 Short fifth metacarpals HP:0010047 Short fifth metacarpal HP:0010047 Bullet-shaped distal phalanx of the 2nd toe HP:0010415 Broad distal phalanx of the 2nd toe HP:0010414 Aplasia/Hypoplasia of the distal phalanx of the 2nd toe HP:0010413 Partial/complete duplication of the middle phalanx of the 2nd toe HP:0010412 Duplication of the middle phalanx of the 2nd toe HP:0010412 Triangular shaped middle phalanx of the 2nd toe HP:0010411 Symphalangism affecting the middle phalanx of the 2nd toe HP:0010410 Patchy sclerosis of the middle phalanx of the 2nd toe HP:0010409 Osteolytic defects of the middle phalanx of the 2nd toe HP:0010408 Curved middle phalanx of the 2nd toe HP:0010407 Bullet-shaped middle phalanx of the 2nd toe HP:0010406 Broad middle phalanx of the 2nd toe HP:0010405 Aplasia/Hypoplasia of the middle phalanx of the 2nd toe HP:0010404 Partial/complete duplication of the proximal phalanx of the 2nd toe HP:0010403 Duplication of the proximal phalanx of the second toe HP:0010403 Duplication of the proximal phalanx of the 2nd toe HP:0010403 Triangular shaped proximal phalanx of the 2nd toe HP:0010402 Symphalangism affecting the proximal phalanx of the 2nd toe HP:0010401 Patchy sclerosis of the proximal phalanx of the 2nd toe HP:0010400 Osteolytic defects of the proximal phalanx of the 2nd toe HP:0010399 Curved proximal phalanx of the 2nd toe HP:0010398 Bullet-shaped proximal phalanx of the 2nd toe HP:0010397 Broad proximal phalanx of the 2nd toe HP:0010396 Aplasia/hypoplasia of the proximal phalanx of the 2nd toe HP:0010395 Abnormality of the proximal phalanx of the 5th toe HP:0010394 Abnormality of the middle phalanx of the 5th toe HP:0010393 Abnormality of the distal phalanx of the 5th toe HP:0010392 Partial/complete duplication of the phalanges of the 5th toe HP:0010391 Duplication of the phalanges of the fifth toe HP:0010391 Duplication of the phalanges of the 5th toe HP:0010391 Triangular shaped phalanges of the 5th toe HP:0010390 Symphalangism affecting the phalanges of the 5th toe HP:0010389 Patchy sclerosis of the phalanges of the 5th toe HP:0010388 Patchy sclerosis of 5th toe phalanx HP:0010388 Osteolytic defects of the phalanges of the 5th toe HP:0010387 Curved phalanges of the 5th toe HP:0010386 Curved 5th toe phalanx HP:0010386 Bullet-shaped phalanges of the 5th toe HP:0010385 Bullet-shaped 5th toe phalanx HP:0010385 Broad phalanges of the 5th toe HP:0010384 Aplasia/Hypoplasia of the phalanges of the 5th toe HP:0010383 Abnormality of the proximal phalanx of the 4th toe HP:0010382 Abnormality of the middle phalanx of the 4th toe HP:0010381 Abnormality of the distal phalanx of the 4th toe HP:0010380 Partial/complete duplication of the phalanges of the 4th toe HP:0010379 Duplication of phalanx of the fourth toe HP:0010379 Duplication of phalanx of the 4th toe HP:0010379 Triangular shaped phalanges of the 4th toe HP:0010378 Symphalangism affecting the phalanges of the 4th toe HP:0010377 Patchy sclerosis of the phalanges of the 4th toe HP:0010376 Patchy sclerosis of 4th toe phalanx HP:0010376 Osteolytic defects of the phalanges of the 4th toe HP:0010375 Curved phalanges of the 4th toe HP:0010374 Curved 4th toe phalanx HP:0010374 Bullet-shaped phalanges of the 4th toe HP:0010373 Bullet-shaped 4th toe phalanx HP:0010373 Broad phalanges of the 4th toe HP:0010372 Aplasia/Hypoplasia of the phalanges of the 4th toe HP:0010371 Abnormality of the proximal phalanx of the 3rd toe HP:0010370 Abnormality of the middle phalanx of the 3rd toe HP:0010369 Abnormality of the distal phalanx of the 3rd toe HP:0010368 Partial/complete duplication of the phalanges of the 3rd toe HP:0010367 Duplication of phalanx of the third toe HP:0010367 Duplication of phalanx of the 3rd toe HP:0010367 Triangular shaped phalanges of the 3rd toe HP:0010366 Short 5th metacarpal HP:0010047 Hypoplastic 5th metacarpal HP:0010047 Fifth metacarpal hypoplasia HP:0010047 Aplasia of the 5th metacarpal HP:0010046 Absent 5th metacarpal HP:0010046 Aplasia/Hypoplasia of the 5th metacarpal HP:0010045 Short fourth metacarpals HP:0010044 Short 4th metacarpals HP:0010044 Short 4th metacarpal HP:0010044 Hypoplastic fourth metacarpal HP:0010044 Aplasia of the 4th metacarpal HP:0010043 Aplasia/Hypoplasia of the 4th metacarpal HP:0010042 Small 3rd metacarpals HP:0010041 Short third metacarpals HP:0010041 Short 3rd metacarpal HP:0010041 Hypoplastic 3rd metacarpal HP:0010041 Aplasia of the 3rd metacarpal HP:0010040 Aplasia/Hypoplasia of the 3rd metacarpal HP:0010039 Short 2nd metacarpal HP:0010038 Rudimentary 2nd metacarpal HP:0010038 Hypoplastic 2nd metacarpal HP:0010038 Aplasia of the 2nd metacarpal HP:0010037 Aplasia/Hypoplasia of the 2nd metacarpal HP:0010036 Aplasia of the 1st metacarpal HP:0010035 Absent first metacarpal HP:0010035 Short first metacarpals HP:0010034 Broad 1st metacarpal HP:0010027 Aplasia/Hypoplasia of the 1st metacarpal HP:0010026 Triangular epiphysis of the 1st metacarpal HP:0010025 Stippling of the epiphysis of the 1st metacarpal HP:0010024 Epiphyseal stippling of the first metacarpal HP:0010024 Small epiphysis of the 1st metacarpal HP:0010023 Pseudoepiphysis of the 1st metacarpal HP:0010022 Ivory epiphysis of the 1st metacarpal HP:0010021 Irregular epiphysis of the 1st metacarpal HP:0010020 Fragmentation of the epiphysis of the 1st metacarpal HP:0010019 Enlarged epiphysis of the 1st metacarpal HP:0010018 Cone-shaped epiphysis of the 1st metacarpal HP:0010017 Bracket epiphysis of the 1st metacarpal HP:0010016 Absent epiphysis of the 1st metacarpal HP:0010015 Abnormality of the epiphysis of the 1st metacarpal HP:0010014 Abnormality of the 5th metacarpal HP:0010013 Abnormality of the 4th metacarpal HP:0010012 Abnormality of the 3rd metacarpal HP:0010011 Abnormality of the 2nd metacarpal HP:0010010 Abnormality of the 1st metacarpal HP:0010009 Partial/complete duplication of the middle phalanges of the hand HP:0010008 Duplication of the middle phalanx of hand HP:0010008 Partial/complete duplication of the proximal phalanges of the hand HP:0010006 Duplication of the proximal phalanx of hand HP:0010006 Partial duplication of the middle phalanges of the hand HP:0010005 Partial duplication of the distal phalanges of the hand HP:0010004 Bifid terminal phalanges of the hand HP:0010004 Partial duplication of the proximal phalanges of the hand HP:0010003 Complete duplication of the middle phalanges of the hand HP:0010002 Complete duplication of the distal phalanges of the hand HP:0010001 Complete duplication of the proximal phalanges of the hand HP:0010000 Partial duplication of the phalanx of hand HP:0009999 Complete duplication of phalanx of hand HP:0009998 Duplication of phalanx of hand HP:0009997 Duplication of finger bones HP:0009997 Partial duplication of the proximal phalanx of the 5th finger HP:0009996 Partial duplication of the middle phalanx of the 5th finger HP:0009995 Partial duplication of the distal phalanx of the 5th finger HP:0009994 Bifid terminal phalanx of the 5th finger HP:0009994 Complete duplication of the proximal phalanx of the 5th finger HP:0009993 Complete duplication of the middle phalanx of the 5th finger HP:0009992 Complete duplication of the distal phalanx of the 5th finger HP:0009991 Partial/complete duplication of the proximal phalanx of the 5th finger HP:0009990 Duplication of the proximal phalanx of the 5th finger HP:0009990 Partial/complete duplication of the middle phalanx of the 5th finger HP:0009989 Duplication of the middle phalanx of the 5th finger HP:0009989 Partial/complete duplication of the distal phalanx of the 5th finger HP:0009988 Duplication of the distal phalanx of the 5th finger HP:0009988 Partial duplication of the phalanges of the 5th finger HP:0009987 Complete duplication of the phalanges of the 5th finger HP:0009986 Partial/complete duplication of phalanges of the 5th finger HP:0009985 Duplication of phalanx of 5th finger HP:0009985 Partial duplication of the proximal phalanx of the 4th finger HP:0009983 Partial duplication of the middle phalanx of the 4th finger HP:0009982 Partial duplication of the distal phalanx of the 4th finger HP:0009981 Bifid terminal phalanx of the 4th finger HP:0009981 Complete duplication of the proximal phalanx of the 4th finger HP:0009980 Complete duplication of the middle phalanx of the 4th finger HP:0009979 Complete duplication of the distal phalanx of the 4th finger HP:0009978 Partial/complete duplication of the proximal phalanx of the 4th finger HP:0009977 Duplication of the proximal phalanx of the 4th finger HP:0009977 Partial/complete duplication of the middle phalanx of the 4th finger HP:0009976 Duplication of the middle phalanx of the 4th finger HP:0009976 Partial/complete duplication of the distal phalanx of the 4th finger HP:0009975 Duplication of the distal phalanx of the 4th finger HP:0009975 Partial duplication of the phalanges of the 4th finger HP:0009974 Complete duplication of the phalanges of the 4th finger HP:0009973 Partial/complete duplication of phalanges of the 4th finger HP:0009972 Duplication of phalanx of 4th finger HP:0009972 Polydactyly affecting the 4th finger HP:0009971 Partial duplication of the proximal phalanx of the 3rd finger HP:0009970 Partial duplication of the middle phalanx of the 3rd finger HP:0009969 Partial duplication of the distal phalanx of the 3rd finger HP:0009968 Bifid terminal phalanx of the 3rd finger HP:0009968 Complete duplication of the proximal phalanx of the 3rd finger HP:0009967 Complete duplication of the middle phalanx of the 3rd finger HP:0009966 Complete duplication of the distal phalanx of the 3rd finger HP:0009965 Partial/complete duplication of the proximal phalanx of the 3rd finger HP:0009964 Duplication of the proximal phalanx of the 3rd finger HP:0009964 Partial/complete duplication of the middle phalanx of the 3rd finger HP:0009963 Duplication of the middle phalanx of the 3rd finger HP:0009963 Partial/complete duplication of the distal phalanx of the 3rd finger HP:0009962 Duplication of the distal phalanx of the 3rd finger HP:0009962 Partial duplication of the phalanges of the 3rd finger HP:0009961 Complete duplication of the phalanges of the 3rd finger HP:0009960 Partial/complete duplication of phalanges of the 3rd finger HP:0009959 Duplication of phalanx of 3rd finger HP:0009959 Polydactyly affecting the 3rd finger HP:0009958 Complete duplication of the phalanges of the 2nd finger HP:0009957 Partial duplication of the phalanges of the 2nd finger HP:0009956 Partial duplication of the proximal phalanx of the 2nd finger HP:0009955 Complete duplication of the proximal phalanx of the 2nd finger HP:0009954 Partial duplication of the middle phalanx of the 2nd finger HP:0009953 Complete duplication of the middle phalanx of the 2nd finger HP:0009952 Partial duplication of the distal phalanx of the 2nd finger HP:0009951 Bifid terminal phalanx of the 2nd finger HP:0009951 Complete duplication of the distal phalanx of the 2nd finger HP:0009950 Partial/complete duplication of the middle phalanx of the 2nd finger HP:0009949 Duplication of the middle phalanx of the 2nd finger HP:0009949 Partial/complete duplication of the distal phalanx of the 2nd finger HP:0009948 Duplication of the distal phalanx of the 2nd finger HP:0009948 Partial/complete duplication of the proximal phalanx of the 2nd finger HP:0009947 Duplication of the proximal phalanx of the 2nd finger HP:0009947 Polydactyly affecting the 2nd finger HP:0009946 Partial/complete duplication of phalanges of the 2nd finger HP:0009945 Duplication of phalanx of 2nd finger HP:0009945 Partial duplication of thumb phalanx HP:0009944 Partial duplication of the phalanges of the thumb HP:0009944 Notching of thumb phalanges HP:0009944 Bifid thumb HP:0009944 Digitalization of thumbs HP:0009943 Digitalization of thumb HP:0009943 Complete duplication of thumb phalanx HP:0009943 Complete duplication of the phalanges of the thumb HP:0009943 Duplication of thumb phalanx HP:0009942 Duplication of phalanx of thumb HP:0009942 Duplicated thumbs HP:0009942 Duplicated thumb HP:0009942 Complete/partial duplication of phalanges of the thumb HP:0009942 Asymmetry of the mouth HP:0009941 Lower jaw shifted to one side HP:0009940 Deviation of mandible HP:0009940 Deviation of lower jaw HP:0009940 Asymmetry of the mandible HP:0009940 Asymmetry of lower jaw HP:0009940 Mandibular aplasia HP:0009939 Absent mandible HP:0009939 Sunken cheeks HP:0009938 Hollow cheeks HP:0009938 Depressed cheeks HP:0009938 Facial hirsutism HP:0009937 Narrow nasal septum HP:0009936 Aplasia/Hypoplasia of the nasal septum HP:0009935 Supernumerary nostrils HP:0009934 Supernumerary naris HP:0009934 Thin nares HP:0009933 Narrow naris HP:0009933 Naris, slit-like HP:0009933 Naris, narrow HP:0009933 Single nostril HP:0009932 Single naris HP:0009932 Naris, enlarged HP:0009931 Naris, broad HP:0009931 Increased width of nares HP:0009931 Enlarged naris HP:0009931 Asymmetry of the nares HP:0009930 Abnormality of the columella HP:0009929 Thickening of the alae nasi HP:0009928 Thick nasal alae HP:0009928 Ala nasi, thick HP:0009928 Arrhinia HP:0009927 Aplasia of the nose HP:0009927 Absent nose HP:0009927 Increased tear production HP:0009926 Increased lacrimation HP:0009926 Epiphora HP:0009926 Aplasia/Hypoplasia involving the nose HP:0009924 Persistence of the hyaloid artery HP:0009922 Limited eye movement from Duane anomaly HP:0009921 Limited eye motility from Duane anomaly HP:0009921 Globe retraction and deviation on adduction HP:0009921 Duane anomaly HP:0009921 Oculodermal melanocytosis HP:0009920 Nevus of Ota HP:0009920 Congenital melanosis bulbi HP:0009920 Retinoblastoma HP:0009919 Ectopia pupillae HP:0009918 Corectopia HP:0009918 Persistent pupillary membrane HP:0009917 Asymmetry of the pupils HP:0009916 Asymmetric pupil sizes HP:0009916 Anisocoria HP:0009916 Corneal asymmetry HP:0009915 Asymmetry of the corneas HP:0009915 Single central eye HP:0009914 Cyclops eye HP:0009914 Cyclopia HP:0009914 Aplasia/Hypoplasia of the tragus HP:0009913 Abnormality of the tragus HP:0009912 Abnormality of the temporal bone HP:0009911 Aplasia of the middle ear ossicles HP:0009910 Absent middle ear ossicles HP:0009910 Upturned earlobes HP:0009909 Upturned earlobe HP:0009909 Uplifted earlobes HP:0009909 Uplifted earlobe HP:0009909 Lobe, uplifted HP:0009909 Fleshy upturned lobules HP:0009909 Transverse earlobe creases HP:0009908 Earlobe crease HP:0009908 Partial/complete duplication of the proximal phalanges of the toes HP:0010211 Duplication of proximal phalanx of toe HP:0010211 Triangular shaped proximal phalanges of the toes HP:0010210 Symphalangism affecting the proximal phalanges of the toes HP:0010209 Patchy sclerosis of the proximal phalanges of the toes HP:0010208 Patchy sclerosis of proximal toe phalanx HP:0010208 Osteolytic defects of the proximal phalanges of the toes HP:0010207 Osteolytic defect of the proximal toe phalanx HP:0010207 Curved proximal toe phalanx HP:0010206 Curved proximal phalanges of the toes HP:0010206 Bullet-shaped proximal toe phalanx HP:0010205 Bullet-shaped proximal phalanges of toe HP:0010205 Bullet-shaped proximal phalanges of the toes HP:0010205 Broad proximal phalanx of toe HP:0010204 Aplasia/hypoplasia of proximal toe phalanx HP:0010203 Aplasia/Hypoplasia of the proximal phalanges of the toes HP:0010203 Partial/complete duplication of the middle phalanges of the toes HP:0010202 Duplication of middle phalanx of toe HP:0010202 Triangular shaped middle phalanges of the toes HP:0010201 Symphalangism affecting the middle phalanges of the toes HP:0010200 Patchy sclerosis of the middle phalanges of the toes HP:0010199 Patchy sclerosis of middle toe phalanx HP:0010199 Osteolytic defects of the middle phalanges of the toes HP:0010198 Curved middle toe phalanx HP:0010197 Curved middle phalanges of the toes HP:0010197 Bullet-shaped middle toe phalanx HP:0010196 Bullet-shaped middle phalanges of the toes HP:0010196 Broad middle phalanges of the toes HP:0010195 Aplasia/Hypoplasia of the middle phalanges of the toes HP:0010194 Partial/complete duplication of the distal phalanges of the toes HP:0010193 Duplication of distal phalanx of toe HP:0010193 Triangular shaped distal phalanges of the toes HP:0010192 Symphalangism affecting the distal phalanges of the toes HP:0010191 Patchy sclerosis of the distal phalanges of the toes HP:0010190 Patchy sclerosis of distal toe phalanx HP:0010190 Osteolytic defects of the distal phalanges of the toes HP:0010189 Curved distal toe phalanx HP:0010188 Curved distal phalanges of the toes HP:0010188 Bullet-shaped distal toe phalanx HP:0010187 Bullet-shaped distal phalanges of the toes HP:0010187 Broad distal phalanx of the toes HP:0010186 Hypoplasia/agenesis of distal phalanges of toes HP:0010185 Aplasia/Hypoplasia of the distal phalanges of the toes HP:0010185 Absent/hypoplastic terminal phalanges of toes HP:0010185 Abnormality of toe proximal phalanx HP:0010184 Abnormality of the proximal phalanges of the toes HP:0010184 Abnormality of the middle phalanges of the toes HP:0010183 Anterior creases of earlobe HP:0009908 Attached earlobe HP:0009907 Adherent earlobe HP:0009907 Aplasia/Hypoplasia of the earlobes HP:0009906 Thin ear helix HP:0009905 Prominent ear helix HP:0009904 Large helix HP:0009904 Conjunctival nodule HP:0009903 Notching of the ear helix HP:0009902 Notched helix HP:0009902 Cleft helix HP:0009902 Crumpled ear HP:0009901 Unilateral deafness HP:0009900 Deafness, unilateral HP:0009900 Prominent crus of helix HP:0009899 Hypertrophic helix crus HP:0009899 Hyperplastic helix crus HP:0009899 Helix, crus, prominent HP:0009899 Abnormal prominence of the crus of the ear HP:0009899 Underdeveloped crus of the helix HP:0009898 Underdeveloped crus of the ear HP:0009898 Hypoplasia of the crus of the ear HP:0009898 Horizontal orientation of the ear crus HP:0009897 Horizontal orientation of the crus of helix HP:0009897 Horizontal crus of helix HP:0009897 Helix, crus, horizontal HP:0009897 Thickened ears HP:0009894 Telangiectasia of the ear HP:0009893 Congenital absence of external ear HP:0009892 Anotia HP:0009892 Absent ears HP:0009892 Absent ear HP:0009892 Underdeveloped supraorbital ridges HP:0009891 Underdeveloped brows HP:0009891 Shallow supraorbital ridge HP:0009891 Shallow orbital ridges HP:0009891 Hypoplastic supraorbital ridges HP:0009891 Hypoplasia of the supraorbital ridges HP:0009891 Flat supraorbital ridge HP:0009891 Depressed supraorbital ridge HP:0009891 High frontal hairline HP:0009890 High anterior hairline HP:0009890 Localized hirsutism HP:0009889 Abnormality of secondary sexual hair HP:0009888 abnormality of hair color HP:0009887 Abnormality of hair pigmentation HP:0009887 Trichorrhexis nodosa HP:0009886 obsolete Prenatal short stature HP:0009885 Tapered distal phalanges of the hand HP:0009884 Tapered distal phalanges of finger HP:0009884 Tapered distal phalanges HP:0009884 Partial/complete duplication of the distal phalanges of the hand HP:0009883 Duplication of the distal phalanx of hand HP:0009883 Bifid terminal phalanges HP:0009883 Terminal phalangeal hypoplasia of hand HP:0009882 Short distal phalanx of finger HP:0009882 Short distal phalanges HP:0009882 Hypoplastic terminal phalanges HP:0009882 Hypoplastic distal phalanges HP:0009882 Hypoplasic terminal phalanges HP:0009882 Hypoplasia of the distal phalanges of the hand HP:0009882 Hypoplasia of the distal phalanges HP:0009882 Distal phalangeal hypoplasia HP:0009882 Brachytelophalangy HP:0009882 Aplasia of the distal phalanges of the hand HP:0009881 Broad distal phalanges of all fingers HP:0009880 Simplified gyral pattern HP:0009879 Cortical gyral simplification HP:0009879 Cerebellar ataxia associated with quadrupedal gait HP:0009878 Triangular shaped distal phalanges of the hand HP:0009875 Triangular shaped proximal phalanges of the hand HP:0009858 Symphalangism affecting the proximal phalanges of the hand HP:0009857 Patchy sclerosis of the proximal phalanges of the hand HP:0009856 Patchy sclerosis of proximal phalanx of finger HP:0009856 Proximal phalanges osteolysis HP:0009855 Osteolytic defects of the proximal phalanges of the hand HP:0009855 Curved proximal phalanges of the hand HP:0009854 Bullet-shaped proximal phalanges of the hand HP:0009853 Broad proximal phalanges of the hand HP:0009852 Aplasia/Hypoplasia of the proximal phalanges of the hand HP:0009851 Triangular shaped middle phalanges of the hand HP:0009850 Symphalangism of middle phalanx of finger HP:0009849 Patchy sclerosis of the middle phalanges of the hand HP:0009848 Patchy sclerosis of middle phalanx of finger HP:0009848 Osteolytic defects of the middle phalanges of the hand HP:0009847 Curved middle phalanges of the hand HP:0009846 Bullet-shaped middle phalanges of the hand HP:0009845 Broad middle phalanx of finger HP:0009844 Broad middle phalanges of the hand HP:0009844 Broad middle phalanges of finger HP:0009844 Short/absent middle phalanges HP:0009843 Short to absent middle phalanges HP:0009843 Hypoplastic/aplastic middle phalanx HP:0009843 Aplastic/hypoplastic middle phalanges HP:0009843 Aplasia/hypoplasia of middle phalanges HP:0009843 Aplasia/Hypoplasia of the middle phalanges of the hand HP:0009843 Absent/hypoplastic middle phalanges HP:0009843 Patchy sclerosis of the distal phalanges of the hand HP:0009840 Patchy sclerosis of distal phalanx of finger HP:0009840 Osteolytic defects of the distal phalanges of the hand HP:0009839 Acroosteolysis of distal phalanges HP:0009839 Acro-osteolysis of distal phalanges HP:0009839 Curved distal phalanges of the hand HP:0009838 Bullet-shaped distal phalanges of the hand HP:0009837 Spatulate terminal phalanges HP:0009836 Broad, square ends of distal phalanges HP:0009836 Broad terminal phalanges HP:0009836 Broad distal phalanx of finger HP:0009836 Broad distal phalanx HP:0009836 Broad distal phalanges of the hand HP:0009836 Broad distal phalanges HP:0009836 Small or absent distal phalanges HP:0009835 Hypoplastic/aplastic distal phalanx HP:0009835 Hypoplastic/aplastic distal phalanges HP:0009835 Hypoplastic to absent terminal phalanges HP:0009835 Aplastic/hypoplastic distal phalanges HP:0009835 Aplasia/Hypoplasia of the distal phalanges of the hand HP:0009835 Aplasia/Hypoplasia of the distal phalanges HP:0009835 Absent/hypoplastic distal phalanges HP:0009835 Abnormality of the proximal phalanges of the hand HP:0009834 Abnormality of the middle phalanges of the hand HP:0009833 Abnormality of the distal phalanx of finger HP:0009832 Abnormality of the distal phalanges of the hand HP:0009832 Abnormal terminal phalanges of the hand HP:0009832 Mononeuropathy HP:0009831 Peripheral neuropathy HP:0009830 Neuropathy HP:0009830 Phocomelia HP:0009829 Peromelia HP:0009828 Amelia HP:0009827 limb shortening HP:0009826 Short limbs HP:0009826 Short limb HP:0009826 Limb undergrowth HP:0009826 Hypoplasia involving bones of the extremities HP:0009826 Aplasia involving bones of the extremities HP:0009825 Upper limb undergrowth HP:0009824 Shortening of the arms HP:0009824 Short arms HP:0009824 Hypoplasia involving bones of the upper limbs HP:0009824 Aplasia involving bones of the upper limbs HP:0009823 Aplasia involving forearm bones HP:0009822 Shortened forearm HP:0009821 Short forearms HP:0009821 Short forearm bones HP:0009821 Hypoplasia involving forearm bones HP:0009821 Forearm undergrowth HP:0009821 Lower limb peromelia HP:0009820 Lower limb phocomelia HP:0009819 Amelia involving the lower limbs HP:0009818 Aplasia involving bones of the lower limbs HP:0009817 Lower limb undergrowth HP:0009816 Hypoplasia of the lower limbs HP:0009816 Hypoplasia involving bones of the lower limbs HP:0009816 Shortened limbs HP:0009815 Short or absent limbs HP:0009815 Aplasia/hypoplasia of the extremities HP:0009815 Upper limb peromelia HP:0009814 Upper limb phocomelia HP:0009813 Amelia involving the upper limbs HP:0009812 Abnormality of the elbows HP:0009811 Abnormality of the elbow HP:0009811 Abnormality of upper limb joint HP:0009810 Abnormality of the joints of the upper limbs HP:0009810 Metaphyseal abnormality of the upper limbs HP:0009809 Abnormality of upper limb metaphysis HP:0009809 Diaphyseal abnormality of the upper limbs HP:0009808 Anomaly of the upper limb diaphyses HP:0009808 Abnormality involving the diaphyses of the upper limbs HP:0009808 Nephrogenic diabetes insipidus HP:0009806 Low-output congestive heart failure HP:0009805 Tooth agenesis HP:0009804 Reduced number of teeth HP:0009804 Shortened phalanges HP:0009803 Short phalanx of finger HP:0009803 Short phalanges HP:0009803 Short fingers HP:0009803 Rudimentary phalanges HP:0009803 Phalangeal hypoplasia HP:0009803 Hypoplastic/small phalanges of the hand HP:0009803 Hypoplastic phalanges of hands HP:0009803 Hypoplastic phalanges HP:0009803 Aplasia of the phalanges of the hand HP:0009802 maternal hyperglycemia HP:0009800 gestational diabetes HP:0009800 Maternal diabetes HP:0009800 Supernumerary spleens HP:0009799 Euthyroid goiter HP:0009798 Cholesteatoma HP:0009797 Branchial cysts HP:0009796 Branchial cyst HP:0009796 Branchial cleft cyst HP:0009796 Branchial fistula HP:0009795 Branchial cleft fistula HP:0009795 Branchial anomaly HP:0009794 Branchial anomalies HP:0009794 Presacral teratoma HP:0009793 Teratoma HP:0009792 Bifid sacrum HP:0009791 Hemisacrum (S2-S5) HP:0009790 Perianal abscess HP:0009789 Quadriceps aplasia HP:0009788 Aplasia/Hypoplasia of the quadriceps HP:0009787 Aplasia/Hypoplasia of the musculature of the thigh HP:0009786 Triceps aplasia HP:0009785 Aplasia/Hypoplasia of the triceps HP:0009784 Biceps aplasia HP:0009783 Aplasia/Hypoplasia of the biceps HP:0009782 Lester's sign HP:0009781 Iliac horns HP:0009780 syndactyly of 3rd - 4th toes HP:0009779 3-4 toe syndactyly HP:0009779 Thumb hypoplasia HP:0009778 Thumb brachydactyly HP:0009778 Small thumbs HP:0009778 Short thumbs HP:0009778 Short first metacarpal HP:0010034 Short 1st metacarpal HP:0010034 Hypoplastic 1st metacarpal HP:0010034 First metacarpals hypoplastic HP:0010034 First metacarpal hypoplasia HP:0010034 Triangular shaped 1st metacarpal HP:0010033 Patchy sclerosis of the 1st metacarpal HP:0010031 Osteolytic defects of the 1st metacarpal HP:0010030 Curved 1st metacarpal HP:0010029 Bullet-shaped 1st metacarpal HP:0010028 Short thumb HP:0009778 Hypoplastic/small thumb HP:0009778 Hypoplastic thumbs HP:0009778 Hypoplastic thumb HP:0009778 Thumb aplasia HP:0009777 Aplasia of the thumb HP:0009777 Absent thumbs HP:0009777 Absent thumb HP:0009777 Aphalangy HP:0009776 Adactyly HP:0009776 Pseudoainhum HP:0009775 Amniotic constriction ring HP:0009775 Amniotic constriction band HP:0009775 Amniotic bands HP:0009775 Triangular shaped phalanges of the hand HP:0009774 Delta phalanx/delta-like phalanx HP:0009774 Synostosis involving phalanges of the hand HP:0009773 Symphalangism affecting the phalanges of the hand HP:0009773 Phalangeal sclerosis HP:0009772 Patchy sclerosis of the phalanges of the hand HP:0009772 Patchy sclerosis of finger phalanx HP:0009772 Osteolytic defects of the phalanges of the hand HP:0009771 Acroosteolysis HP:0009771 Acro-osteolysis HP:0009771 Curved phalanges of the hand HP:0009770 Conical bullet-shaped distal ends of phalanges HP:0009769 Triangular epiphyses of the thumb HP:0009696 Stippling of thumb epiphysis HP:0009695 Stippling of the epiphyses of the thumb HP:0009695 Small thumb epiphysis HP:0009694 Small epiphyses of the thumb HP:0009694 Pseudoepiphysis of the thumb HP:0009693 Pseudoepiphyses of the thumb HP:0009693 Ivory epiphysis of the thumb HP:0009692 Ivory epiphyses of the thumb HP:0009692 Irregular thumb epiphysis HP:0009691 Irregular epiphyses of the thumb HP:0009691 Fragmentation of thumb epiphysis HP:0009690 Fragmentation of the epiphyses of the thumb HP:0009690 Enlarged thumb epiphysis HP:0009689 Enlarged epiphyses of the thumb HP:0009689 Cone-shaped thumb epiphyses HP:0009688 Cone-shaped epiphysis of the thumb HP:0009688 Cone-shaped epiphyses of the thumb HP:0009688 Bracket epiphyses of the thumb HP:0009687 Absent epiphyses of the thumb HP:0009686 Triangular epiphysis of the distal phalanx of the thumb HP:0009685 Stippling of the epiphysis of the distal phalanx of the thumb HP:0009684 Small epiphysis of the distal phalanx of the thumb HP:0009683 Pseudoepiphysis of the distal phalanx of the thumb HP:0009682 Ivory epiphysis of the distal phalanx of the thumb HP:0009681 Irregular epiphysis of the distal phalanx of the thumb HP:0009680 Fragmentation of the epiphysis of the distal phalanx of the thumb HP:0009679 Large terminal thumb phalanx epiphysis HP:0009678 Enlarged epiphysis of the distal phalanx of the thumb HP:0009678 Cone-shaped terminal thumb phalanx epiphysis HP:0009677 Cone-shaped epiphysis of the distal phalanx of the thumb HP:0009677 Bracket epiphysis of the distal phalanx of the thumb HP:0009676 Absent epiphysis of the distal phalanx of the thumb HP:0009675 Triangular epiphysis of the proximal phalanx of the thumb HP:0009674 Stippling of the epiphysis of the proximal phalanx of the thumb HP:0009673 Small epiphysis of the proximal phalanx of the thumb HP:0009672 Pseudoepiphysis of the proximal phalanx of the thumb HP:0009671 Ivory epiphysis of the proximal phalanx of the thumb HP:0009670 Irregular epiphysis of the proximal phalanx of the thumb HP:0009669 Fragmentation of the epiphysis of the proximal phalanx of the thumb HP:0009668 Enlarged epiphysis of the proximal phalanx of the thumb HP:0009667 Cone-shaped epiphysis of the proximal phalanx of the thumb HP:0009666 Bracket epiphysis of the proximal phalanx of the thumb HP:0009665 Absent epiphysis of the proximal phalanx of the thumb HP:0009664 Abnormality of the epiphysis of the proximal phalanx of the thumb HP:0009663 Abnormality of the epiphysis of the distal phalanx of the thumb HP:0009662 Abnormality of terminal thumb epiphysis HP:0009662 Short thumb phalanges HP:0009660 Short phalanx of the thumb HP:0009660 Hypoplastic/small phalanges of the thumb HP:0009660 Hypoplastic thumb phalanges HP:0009660 Partial absence of thumb HP:0009659 Aplasia of the phalanges of the thumb HP:0009659 Aplasia/Hypoplasia of the phalanges of the thumb HP:0009658 Triangular thumb phalanges HP:0009657 Triangular shaped thumb phalanx HP:0009657 Triangular shaped phalanges of the thumb HP:0009657 Symphalangism of the thumb HP:0009656 Symphalangism of the distal and proximal phalanges of the thumb HP:0009656 Fused thumb phalanges HP:0009656 Patchy sclerosis of thumb phalanx HP:0009655 Patchy sclerosis of the phalanges of the thumb HP:0009655 Osteolytic defects of the phalanges of the thumb HP:0009654 Osteolytic defect of thumb phalanx HP:0009654 Curved thumb phalanx HP:0009653 Curved phalanges of the thumb HP:0009653 Bullet-shaped thumb phalanx HP:0009652 Bullet-shaped phalanges of the thumb HP:0009652 Small terminal thumb phalanx HP:0009650 Short thumb terminal phalanx HP:0009650 Short terminal thumb phalanx HP:0009650 Short distal phalanx of the thumb HP:0009650 Hypoplastic/small distal phalanx of the thumb HP:0009650 Hypoplastic terminal thumb phalanx HP:0009650 Aplasia of the distal phalanx of the thumb HP:0009649 Absent ossification/absent terminal thumb phalanx HP:0009649 Triangular shaped distal phalanx of the thumb HP:0009648 Patchy sclerosis of the distal phalanx of the thumb HP:0009646 Osteolytic defects of the distal phalanx of the thumb HP:0009645 Osteolytic defect of the distal phalanx of the thumb HP:0009645 Curved distal phalanx of the thumb HP:0009644 Bullet-shaped distal phalanx of the thumb HP:0009643 Wide distal phalanx of thumb HP:0009642 Broad terminal thumb phalanx HP:0009642 Broad distal phalanx of the thumb HP:0009642 Aplasia/Hypoplasia of the distal phalanx of the thumb HP:0009641 Synostosis of the proximal phalanx of the thumb with the 1st metatcarpal HP:0009640 Short proximal thumb phalanx HP:0009638 Short proximal phalanx of thumb HP:0009638 Short proximal phalanges of thumb HP:0009638 Hypoplastic/small proximal phalanx of the thumb HP:0009638 Aplasia of the proximal phalanx of the thumb HP:0009637 Absent proximal phalanx of thumb HP:0009637 Absent ossification/absent proximal thumb phalanx HP:0009637 Triangular shaped proximal phalanx of the thumb HP:0009636 Triangular proximal thumb phalanx HP:0009636 Synostosis of thumb phalanx HP:0009635 Patchy sclerosis of the proximal phalanx of the thumb HP:0009634 Osteolytic defects of the proximal phalanx of the thumb HP:0009633 Osteolytic defect of the proximal phalanx of the thumb HP:0009633 Curved proximal phalanx of the thumb HP:0009632 Bullet-shaped proximal phalanx of the thumb HP:0009631 Broad proximal phalanx of the thumb HP:0009630 Aplasia/Hypoplasia of the proximal phalanx of the thumb HP:0009629 Interphalangeal extension contractures of thumbs HP:0009626 Contractures of the interphalangeal joint of the thumb HP:0009626 Contractures of the metacarpophalangeal joint of the thumb HP:0009625 Contractures of the carpometacarpal joint of the thumb HP:0009624 Proximally placed thumbs HP:0009623 Proximally placed halluces HP:0009623 Proximal placement of thumb HP:0009623 Low implantation of the thumb HP:0009623 Distally placed thumb HP:0009622 obsolete Ulnar deviation of the thumb HP:0009621 obsolete Radial deviation of the thumb HP:0009620 Radially deviated thumb HP:0009620 Abnormality of the proximal phalanx of the thumb HP:0009618 Abnormality of proximal thumb phalanx HP:0009618 Abnormality of the distal phalanx of the thumb HP:0009617 Abnormality of terminal thumb phalanx HP:0009617 partial duplication of the first metacarpal HP:0009616 Bifid first metacarpal HP:0009616 Complete duplication of the first metacarpal HP:0009615 Bifid proximal phalanx of the thumb HP:0009614 Partial/complete duplication of the proximal phalanx of the thumb HP:0009613 Duplication of the proximal phalanx of the thumb HP:0009613 Partial/complete duplication of the distal phalanx of the thumb HP:0009612 Duplication of the distal phalanx of the thumb HP:0009612 Notched terminal thumb phalanx HP:0009611 Incipient distal thumb phalanx duplication HP:0009611 Bifid terminal phalanges of thumbs HP:0009611 Bifid distal phalanx of thumb HP:0009611 Bifid distal phalanx of the thumb HP:0009611 Partial/complete duplication of the 1st metacarpal HP:0009609 Duplication of the 1st metacarpal HP:0009609 Complete duplication of proximal phalanx of the thumb HP:0009608 Duplication of terminal thumb phalanx HP:0009606 Duplication of distal thumb phalanx HP:0009606 Duplicated terminal phalanx of thumb HP:0009606 Double thumb distal phalanges HP:0009606 Complete duplication of distal phalanx of the thumb HP:0009606 Displacement of the thumb HP:0009603 Deviation of the thumb HP:0009603 Deviated thumb HP:0009603 Abnormality of thumb phalanx HP:0009602 Abnormality of thumb phalanges HP:0009602 Thumb aplasia/hypoplasia HP:0009601 Hypoplastic/absent thumb HP:0009601 Hypoplastic to aplastic thumbs HP:0009601 Aplastic/hypoplastic thumbs HP:0009601 Aplasia/hypoplasia of thumbs HP:0009601 Aplasia/Hypoplasia of the thumb HP:0009601 Absent/hypoplastic thumbs HP:0009601 Absent/hypoplastic thumb HP:0009601 Absent or hypoplastic thumbs HP:0009601 Joint contractures of the thumb HP:0009600 Flexion deformities of thumbs HP:0009600 Flexion contracture of thumb HP:0009600 Contracture of thumb HP:0009600 Abnormality of thumb epiphysis HP:0009599 Abnormality of thumb epiphyses HP:0009599 Abnormality of the epiphyses of the thumb HP:0009599 Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metatcarpal HP:0009598 Short proximal phalanx of the second finger HP:0009597 Short proximal phalanx of the 2nd finger HP:0009597 Short proximal index finger phalanx HP:0009597 Hypoplastic/small proximal phalanx of the 2nd finger HP:0009597 Aplasia of the proximal phalanx of the 2nd finger HP:0009596 Occasional neurofibromas HP:0009595 Retinal hamartoma HP:0009594 Peripheral Schwannoma HP:0009593 Astrocytoma HP:0009592 Abnormality of the vestibulocochlear nerve HP:0009591 Abnormality of the eighth cranial nerve HP:0009591 Abnormality of the VIIIth cranial nerve HP:0009591 Unilateral vestibular Schwannoma HP:0009590 Bilateral vestibular Schwannoma HP:0009589 Bilateral acoustic neuromas HP:0009589 Vestibular neurolemmoma HP:0009588 Vestibular neurinoma HP:0009588 Vestibular neurilemmoma HP:0009588 Vestibular Schwannoma HP:0009588 Vestibular Schwann cell tumor HP:0009588 Acoustic Neuroma HP:0009588 Triangular shaped proximal phalanx of the 2nd finger HP:0009587 Triangular proximal index finger phalanx HP:0009587 Symphalangism affecting the proximal phalanx of the 2nd finger HP:0009586 Patchy sclerosis of the proximal phalanx of the 2nd finger HP:0009585 Osteolytic defects of the proximal phalanx of the 2nd finger HP:0009584 Lytic defects of proximal index finger phalanx HP:0009584 Abnormality of the antitragus HP:0009896 Abnormality of the crus of the helix HP:0009895 Abnormality of the crus of the ear HP:0009895 Curved proximal phalanx of the 2nd finger HP:0009583 Bullet-shaped proximal phalanx of the 2nd finger HP:0009582 Wide/broad proximal index finger phalanx HP:0009581 Broad proximal phalanx of the 2nd finger HP:0009581 Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger HP:0009580 Proximal/middle symphalangism of the 2nd finger HP:0009579 Short middle phalanx of the 2nd finger HP:0009577 Hypoplastic/small middle phalanx of the 2nd finger HP:0009577 Hypoplastic middle index finger phalanx HP:0009577 Aplasia of the middle phalanx of the 2nd finger HP:0009576 Absent middle phalanx of index finger HP:0009576 Absent middle phalanx of 2nd finger HP:0009576 Triangular shaped middle phalanx of the 2nd finger HP:0009575 Symphalangism of middle phalanx of 2nd finger HP:0009574 Patchy sclerosis of the middle phalanx of the 2nd finger HP:0009573 Osteolytic defects of the middle phalanx of the 2nd finger HP:0009572 Lytic defects of middle index finger phalanx HP:0009572 Curved middle phalanx of the 2nd finger HP:0009571 Bullet-shaped middle phalanx of the 2nd finger HP:0009570 Broad middle phalanx of the 2nd finger HP:0009569 Hypoplastic/aplastic middle phalanx (2nd finger) HP:0009568 Aplasia/Hypoplasia of the middle phalanx of the 2nd finger HP:0009568 Absent/hypoplastic middle phalanx of 2nd finger HP:0009568 Short terminal index finger phalanx HP:0009566 Short distal phalanx of the second finger HP:0009566 Short distal phalanx of the 2nd finger HP:0009566 Aplasia/Hypoplasia of the middle phalanx of the 3rd finger HP:0009437 Triangular shaped middle phalanx of the 3rd finger HP:0009436 Symphalangism of middle phalanx of 3rd finger HP:0009435 Patchy sclerosis of the middle phalanx of the 3rd finger HP:0009434 Osteolytic defects of the middle phalanx of the 3rd finger HP:0009433 Curved middle phalanx of the 3rd finger HP:0009432 Bullet-shaped middle phalanx of the 3rd finger HP:0009431 Wide/broad middle phalanx of middle-finger HP:0009430 Broad middle phalanx of the 3rd finger HP:0009430 Aplasia of the distal phalanx of the 3rd finger HP:0009429 Curved distal phalanx of the 3rd finger HP:0009428 Triangular shaped distal phalanx of the 3rd finger HP:0009427 Symphalangism of the distal and middle phalanges of the 3rd finger HP:0009426 Distal/middle symphalangism of 3rd finger HP:0009426 Patchy sclerosis of the distal phalanx of the 3rd finger HP:0009425 Osteolytic defects of the distal phalanx of the 3rd finger HP:0009424 Lytic defectof terminal phalanx of middle finger HP:0009424 Bullet-shaped distal phalanx of the 3rd finger HP:0009423 Broad distal phalanx of the 3rd finger HP:0009422 Aplasia/Hypoplasia of the distal phalanx of the 3rd finger HP:0009421 Triangular epiphyses of the 3rd finger HP:0009420 Delta-shaped epiphyses of the 3rd finger HP:0009420 Stippling of the epiphyses of the 3rd finger HP:0009419 Small epiphyses of the 3rd finger HP:0009418 Pseudoepiphyses of the 3rd finger HP:0009417 Pseudoepiphyses of middle finger phalanges HP:0009417 Ivory epiphyses of the 3rd finger HP:0009416 Irregular epiphyses of the 3rd finger HP:0009415 Fragmentation of the epiphyses of the 3rd finger HP:0009414 Enlarged epiphyses of the 3rd finger HP:0009413 Cone-shaped epiphyses of the 3rd finger HP:0009412 Bracket epiphyses of the 3rd finger HP:0009411 Absent epiphyses of the 3rd finger HP:0009410 Aplasia/Hypoplasia of the phalanges of the 4th finger HP:0009408 Triangular shaped phalanges of the 4th finger HP:0009407 Patchy sclerosis of the phalanges of the 4th finger HP:0009406 Patchy sclerosis of 4th finger phalanx HP:0009406 Bullet-shaped phalanges of the 4th finger HP:0009405 Broad phalanges of the 4th finger HP:0009404 Triangular epiphyses of the 4th finger HP:0009403 Delta-shaped epiphyses of the 4th finger HP:0009403 Stippling of the epiphyses of the 4th finger HP:0009402 Small epiphyses of the 4th finger HP:0009401 Pseudoepiphyses of the 4th finger HP:0009400 Ivory epiphyses of the 4th finger HP:0009399 Irregular epiphyses of the 4th finger HP:0009398 Fragmentation of the epiphyses of the 4th finger HP:0009397 Enlarged epiphyses of the 4th finger HP:0009396 Cone-shaped epiphyses of the 4th finger HP:0009395 Bracket epiphyses of the 4th finger HP:0009394 Absent epiphyses of the 4th finger HP:0009393 Triangular epiphyses of the 5th finger HP:0009392 Delta-shaped epiphyses of the 5th finger HP:0009392 Stippling of the epiphyses of the 5th finger HP:0009391 Small epiphyses of the 5th finger HP:0009390 Pseudoepiphyses of the 5th finger HP:0009389 Ivory epiphyses of the 5th finger HP:0009388 Irregular epiphyses of the 5th finger HP:0009387 Fragmentation of the epiphyses of the 5th finger HP:0009386 Enlarged epiphyses of the 5th finger HP:0009385 Cone-shaped epiphyses of the 5th finger HP:0009384 Bracket epiphyses of the 5th finger HP:0009383 Absent epiphyses of the 5th finger HP:0009382 Short finger HP:0009381 Hypoplastic/small fingers HP:0009381 Hypoplastic fingers HP:0009381 Hypoplastic digits HP:0009381 Aplasia of the fingers HP:0009380 Absent fingers HP:0009380 Rhomboid or triangular shaped 5th finger distal phalanx HP:0009379 Triangular shaped phalanges of the 5th finger HP:0009378 Patchy sclerosis of the phalanges of the 5th finger HP:0009377 Patchy sclerosis of 5th finger phalanx HP:0009377 Aplasia/Hypoplasia of the phalanges of the 5th finger HP:0009376 Bullet-shaped phalanges of the 5th finger HP:0009375 Broad phalanges of the 5th finger HP:0009374 Type C brachydactyly HP:0009373 Type A2 brachydactyly HP:0009372 Type A1 brachydactyly HP:0009371 Type A brachydactyly HP:0009370 Abnormality of the proximal phalanx of the 3rd finger HP:0009358 Abnormality of proximal middle-finger phalanx HP:0009358 Abnormality of the distal phalanx of the 3rd finger HP:0009357 Abnormality of terminal phalanx of middle-finger HP:0009357 Triangular epiphysis of the proximal phalanx of the 3rd finger HP:0009356 Delta-shaped epiphysis of the proximal phalanx of the 3rd finger HP:0009356 Stippling of the epiphysis of the proximal phalanx of the 3rd finger HP:0009355 Small epiphysis of the proximal phalanx of the 3rd finger HP:0009354 Pseudoepiphysis of the proximal phalanx of the 3rd finger HP:0009353 Ivory epiphysis of the proximal phalanx of the 3rd finger HP:0009352 Irregular epiphysis of the proximal phalanx of the 3rd finger HP:0009351 Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger HP:0009350 Large epiphysis of proximal middle-finger phalanx HP:0009349 Enlarged epiphysis of the proximal phalanx of the 3rd finger HP:0009349 Cone-shaped epiphysis of the proximal phalanx of the 3rd finger HP:0009348 Bracket epiphysis of the proximal phalanx of the 3rd finger HP:0009347 Absent epiphysis of the proximal phalanx of the 3rd finger HP:0009346 Triangular epiphysis of the distal phalanx of the 3rd finger HP:0009345 Delta-shaped epiphysis of the distal phalanx of the 3rd finger HP:0009345 Stippling of the epiphysis of the distal phalanx of the 3rd finger HP:0009344 Small epiphysis of the distal phalanx of the 3rd finger HP:0009343 Pseudoepiphysis of the distal phalanx of the 3rd finger HP:0009342 Ivory epiphysis of the distal phalanx of the 3rd finger HP:0009341 Irregular epiphysis of the distal phalanx of the 3rd finger HP:0009340 Fragmentation of the epiphysis of the distal phalanx of the 3rd finger HP:0009339 Enlarged epiphysis of the distal phalanx of the 3rd finger HP:0009338 Cone-shaped epiphysis of the distal phalanx of the 3rd finger HP:0009337 Bracket epiphysis of the distal phalanx of the 3rd finger HP:0009336 Absent epiphysis of the distal phalanx of the 3rd finger HP:0009335 Abnormality of the epiphysis of the middle phalanx of the 3rd finger HP:0009334 Abnormality of the epiphysis of the proximal phalanx of the 3rd finger HP:0009333 Abnormality of the epiphysis of the distal phalanx of the 3rd finger HP:0009332 Triangular epiphysis of the middle phalanx of the 3rd finger HP:0009331 Delta-shaped epiphysis of the middle phalanx of the 3rd finger HP:0009331 Stippling of the epiphysis of the middle phalanx of the 3rd finger HP:0009330 Small epiphysis of the middle phalanx of the 3rd finger HP:0009329 Pseudoepiphysis of the middle phalanx of the 3rd finger HP:0009328 Pseudoepiphyses of middle phalanx of middle-finger HP:0009328 Ivory epiphysis of the middle phalanx of the 3rd finger HP:0009327 Irregular epiphysis of the middle phalanx of the 3rd finger HP:0009326 Fragmentation of the epiphysis of the middle phalanx of the 3rd finger HP:0009325 Enlarged epiphysis of the middle phalanx of the 3rd finger HP:0009324 Cone-shaped epiphysis of the middle phalanx of the 3rd finger HP:0009323 Bracket epiphysis of the middle phalanx of the 3rd finger HP:0009322 Absent epiphysis of the middle phalanx of the 3rd finger HP:0009321 Abnormality of the epiphyses of the 3rd finger HP:0009320 Joint contracture of the 3rd finger HP:0009319 Camptodactyly of middle finger HP:0009319 Aplasia/Hypoplasia of the 3rd finger HP:0009318 Deviation of the 3rd finger HP:0009317 Deviated middle finger HP:0009317 Abnormality of the phalanges of the 3rd finger HP:0009316 Abnormality of middle finger phalanges HP:0009316 Abnormality of 3rd finger phalanges HP:0009316 Triangular shaped proximal phalanx of the 4th finger HP:0009315 Symphalangism affecting the proximal phalanx of the 4th finger HP:0009314 Patchy sclerosis of the proximal phalanx of the 4th finger HP:0009313 Osteolytic defects of the proximal phalanx of the 4th finger HP:0009312 Bullet-shaped proximal phalanx of the 4th finger HP:0009311 Broad proximal phalanx of the 4th finger HP:0009310 Triangular shaped middle phalanx of the 4th finger HP:0009309 Symphalangism of middle phalanx of 4th finger HP:0009308 Patchy sclerosis of the middle phalanx of the 4th finger HP:0009307 Triangular shaped distal phalanx of the 4th finger HP:0009306 Symphalangism of the distal and middle phalanges of the 4th finger HP:0009305 Distal/middle symphalangism of 4th finger HP:0009305 Patchy sclerosis of the distal phalanx of the 4th finger HP:0009304 Osteolytic defects of the distal phalanx of the 4th finger HP:0009303 Bullet-shaped distal phalanx of the 4th finger HP:0009302 Short proximal phalanx of the fourth finger HP:0009301 Short proximal phalanx of the 4th finger HP:0009301 Hypoplastic/small proximal phalanx of the 4th finger HP:0009301 Aplasia/Hypoplasia of the proximal phalanx of the 4th finger HP:0009300 Aplasia/Hypoplasia of the middle phalanx of the 4th finger HP:0009299 Aplasia of the proximal phalanx of the 4th finger HP:0009298 Osteolytic defects of the middle phalanx of the 4th finger HP:0009297 Bullet-shaped middle phalanx of the 4th finger HP:0009296 Short middle phalanx of the 4th finger HP:0009295 Short middle phalanx of ring finger HP:0009295 Hypoplastic/small middle phalanx of the 4th finger HP:0009295 Hypoplastic/small middle phalanx of ring finger HP:0009295 Aplasia of the middle phalanx of the 4th finger HP:0009294 Absent middle phalanx of 4th finger HP:0009294 Broad middle phalanx of the 4th finger HP:0009293 Broad distal phalanx of the 4th finger HP:0009292 Aplasia of the distal phalanx of the 4th finger HP:0009291 Short distal phalanx of the fourth finger HP:0009290 Short distal phalanx of the 4th finger HP:0009290 Hypoplastic/small distal phalanx of the 4th finger HP:0009290 Aplasia/Hypoplasia of the distal phalanx of the 4th finger HP:0009289 Curved proximal phalanx of the 4th finger HP:0009288 Curved middle phalanx of the 4th finger HP:0009287 Curved distal phalanx of the 4th finger HP:0009286 Curved phalanges of the 4th finger HP:0009285 Abnormality of the proximal phalanx of the ring finger HP:0009284 Abnormality of the proximal phalanx of the 4th finger HP:0009284 Abnormality of the middle phalanx of the ring finger HP:0009283 Abnormality of the middle phalanx of the 4th finger HP:0009283 Abnormality of the distal phalanx of the 4th finger HP:0009282 Aplasia of the 4th finger HP:0009281 Short ring finger HP:0009280 Short 4th finger HP:0009280 Hypoplastic/small 4th finger HP:0009280 Radial deviation of the 4th finger HP:0009279 Ulnar deviation of the 4th finger HP:0009278 Contracture of the metacarpophalangeal joint of the 4th finger HP:0009277 Contracture of the proximal interphalangeal joint of the 4th finger HP:0009276 Camptodactyly of the ring finger HP:0009276 Camptodactyly of the 4th finger HP:0009276 4th finger camptodactyly HP:0009276 Bullet-shaped phalanges of the hands HP:0009769 Bullet-shaped phalanges of the hand HP:0009769 Widening of phalanges of the hand HP:0009768 Broad phalanges of the hand HP:0009768 Hypoplastic/absent phalanges HP:0009767 Aplastic/hypoplastic phalanges of the hand HP:0009767 Aplastic/hypoplastic phalanges HP:0009767 Aplasia/Hypoplasia of the phalanges of the hand HP:0009767 Low-hanging columella HP:0009765 Low hanging columella HP:0009765 Extension of the columella below the ala nasi HP:0009765 Columella, low hanging HP:0009765 Columella, low HP:0009765 Columella extends below the ala nasi HP:0009765 Pain in extremities HP:0009763 Limb pain HP:0009763 Facial wrinkling HP:0009762 Anterior clefting of vertebral bodies HP:0009761 Webbed elbow HP:0009760 Pterygium cubitale HP:0009760 Antecubital pterygium HP:0009760 Neck pterygia HP:0009759 Pyramidal skinfold extending from the base to the top of the nails HP:0009758 Intercrural pterygium HP:0009757 Popliteal pterygium HP:0009756 Eyelid synechiae HP:0009755 Ankyloblepharon filiforme adnatum HP:0009755 Ankyloblepharon HP:0009755 Fusion of the alveolar ridges HP:0009754 Fibrous syngnathia HP:0009754 Cleft in skull base HP:0009752 Aplasia of the pectoralis major muscle HP:0009751 prominent ear lobules HP:0009748 Prominent ear lobes HP:0009748 Large earlobe HP:0009748 Fleshy earlobes HP:0009748 Fleshy earlobe HP:0009748 Lumbosacral hirsutism HP:0009747 Thick nasal septum HP:0009746 Spinalarachnoid cyst HP:0009745 Epidural arachnoid cysts of the spinal canal HP:0009745 Abnormality of the spinal dura mater HP:0009744 Distichiasis of eyelid eyelashes HP:0009743 Distichiasis HP:0009743 Stiff shoulders HP:0009742 Nephrosclerosis HP:0009741 Aplasia of the parotid gland HP:0009740 Absence of the parotid gland HP:0009740 Hypoplastic antihelix HP:0009739 Hypoplasia of the antihelix HP:0009739 Abnormality of the antihelix HP:0009738 Abnormal antihelix HP:0009738 Abnormal anthelix HP:0009738 Abnormal antehelix HP:0009738 Lisch nodules HP:0009737 Iris hamartomas HP:0009737 Tibial pseudoarthrosis HP:0009736 Spinal neurofibromas HP:0009735 Optic glioma HP:0009734 Glioma HP:0009733 Plexiform neurofibroma HP:0009732 Cerebral hamartomata HP:0009731 Rhabdomyoma HP:0009730 Cardiac rhabdomyoma HP:0009729 Tumors of striated muscle HP:0009728 Neoplasm of striated muscle HP:0009728 Punched out areas of chorioretinal hypopigmentation HP:0009727 Achromatic retinal patches HP:0009727 Renal tumors HP:0009726 Renal neoplasm HP:0009726 Renal neoplasia HP:0009726 Neoplasia of the kidneys HP:0009726 Kidney cancer HP:0009726 Bladder tumor HP:0009725 Bladder neoplasm HP:0009725 Subungual fibromas HP:0009724 Subungual fibroma HP:0009724 Abnormality of the subungual region HP:0009723 Dental enamel pitting HP:0009722 Dental enamel pits HP:0009722 Shagreen patch HP:0009721 Sebaceous adenomas HP:0009720 Sebaceous adenoma HP:0009720 Facial angiofibromas HP:0009720 Adenoma sebaceum HP:0009720 Hypomelanotic macule HP:0009719 Subependymal giant-cell astrocytoma HP:0009718 Cortical tubers HP:0009717 Subependymal nodules HP:0009716 Papillary cystadenoma of the epididymis HP:0009715 Abnormality of the epididymis HP:0009714 Spinal hemangioblastoma HP:0009713 Retinal hemangioblastoma HP:0009711 Retinal capillary hemangioma HP:0009711 Chilblain lesions HP:0009710 Increased CSF interferon alpha HP:0009709 Synostosis involving the 5th metacarpal HP:0009708 Synostosis involving the 4th metacarpal HP:0009707 Synostosis involving the 3rd metacarpal HP:0009706 Synostosis involving the 2nd metacarpal HP:0009705 Chronic CSF lymphocytosis HP:0009704 Synostosis involving the 1st metacarpal HP:0009703 Symphalangism affecting the 1st metacarpal HP:0009703 First metacarpophalangeal joint synostosis HP:0009703 Synostosis involving the carpal bones HP:0009702 Fused carpal bones HP:0009702 Carpal synostosis HP:0009702 Carpal fusion HP:0009702 Carpal bone fusion HP:0009702 Synostosis involving the metacarpal bones HP:0009701 Synostosis involving metacarpal bones HP:0009701 Metacarpal synostosis HP:0009701 Synostosis involving bones of the fingers HP:0009700 Symphalangism of the hand HP:0009700 Osteolytic defects of the hand bones HP:0009699 Lytic defects of hand bones HP:0009699 Contracture of the distal interphalangeal joints of the fingers HP:0009697 Contracture of the distal interphalangeal joint of the 4th finger HP:0009275 Joint contractures of the fourth finger HP:0009274 Joint contracture of the 4th finger HP:0009274 Deviation of the 4th finger HP:0009273 Aplasia/Hypoplasia of the 4th finger HP:0009272 Triangular epiphysis of the proximal phalanx of the 4th finger HP:0009271 Delta-shaped epiphysis of the proximal phalanx of the 4th finger HP:0009271 Stippling of the epiphysis of the proximal phalanx of the 4th finger HP:0009270 Small epiphysis of the proximal phalanx of the 4th finger HP:0009269 Pseudoepiphysis of the proximal phalanx of the 4th finger HP:0009268 Ivory epiphysis of the proximal phalanx of the 4th finger HP:0009267 Irregular epiphysis of the proximal phalanx of the 4th finger HP:0009266 Fragmentation of the epiphysis of the proximal phalanx of the 4th finger HP:0009265 Enlarged epiphysis of the proximal phalanx of the 4th finger HP:0009264 Cone-shaped epiphysis of the proximal phalanx of the 4th finger HP:0009263 Bracket proximal epiphysis of the ring finger HP:0009262 Bracket epiphysis of the proximal phalanx of the 4th finger HP:0009262 Absent epiphysis of the proximal phalanx of the 4th finger HP:0009261 Triangular epiphysis of the distal phalanx of the 4th finger HP:0009260 Delta-shaped epiphysis of the distal phalanx of the 4th finger HP:0009260 Stippling of the epiphysis of the distal phalanx of the 4th finger HP:0009259 Small epiphysis of the distal phalanx of the 4th finger HP:0009258 Pseudoepiphysis of the distal phalanx of the 4th finger HP:0009257 Ivory epiphysis of the distal phalanx of the 4th finger HP:0009256 Irregular epiphysis of the distal phalanx of the 4th finger HP:0009255 Fragmentation of the epiphysis of the distal phalanx of the 4th finger HP:0009254 Amyotrophy involving the musculature of the hand HP:0009130 Upper limb amyotrophy HP:0009129 Amyotrophy involving the upper limbs HP:0009129 Aplasia/Hypoplasia involving the musculature of the extremities HP:0009128 Abnormality of the musculature of the limbs HP:0009127 Increased adipose tissue HP:0009126 Lipodystrophy HP:0009125 Abnormality of fatty tissue HP:0009124 Abnormality of adipose tissue HP:0009124 Mixed hypo- and hyperpigmentation of the skin HP:0009123 Aplasia/hypoplasia affecting bones of the axial skeleton HP:0009122 Abnormality of the axial skeleton HP:0009121 Abnormal axial skeleton morphology HP:0009121 Aplasia/Hypoplasia involving the sinuses HP:0009120 Aplasia/Hypoplasia of the frontal sinuses HP:0009119 Underdevelopment of mandible HP:0009118 Underdevelopment of lower jaw HP:0009118 Small lower jaw HP:0009118 Micromandible HP:0009118 Mandibular retrusion HP:0009118 Mandibular retrognathia HP:0009118 Mandibular micrognathia HP:0009118 Mandibular deficiency HP:0009118 Lower jaw retrusion HP:0009118 Lower jaw retrognathia HP:0009118 Lower jaw hypoplasia HP:0009118 Lower jaw deficiency HP:0009118 Little mandible HP:0009118 Little lower jaw HP:0009118 Aplasia/Hypoplasia of the mandible HP:0009118 Absence of mandible HP:0009118 Absence of lower jaw HP:0009118 Aplasia/Hypoplasia of the maxilla HP:0009117 Aplasia/Hypoplasia involving bones of the skull HP:0009116 Aplasia/hypoplasia involving the skeleton HP:0009115 Diminished diaphragmatic motion HP:0009113 Diaphragmatic weakness HP:0009113 Diaphragmatic paraparesis HP:0009113 Absent left hemidiaphragm HP:0009112 Eventration of the diaphragm HP:0009110 Diaphragmatic eventration HP:0009110 Denervation of the diaphragm HP:0009109 Aplasia/Hypoplasia involving the femoral head and neck HP:0009108 Abnormal ossification involving the femoral head and neck HP:0009107 Abnormal pelvis bone ossification HP:0009106 Abnormal ossification involving the bones of the pelvis HP:0009106 Abnormal ossification of the pubic bone HP:0009105 Hypoplastic/aplastic pubic bones HP:0009104 Aplasia/Hypoplasia of the pubic bone HP:0009104 Aplasia/Hypoplasia involving the pelvis HP:0009103 Anterior open-bite malocclusion HP:0009102 Submucous cleft lip HP:0009101 Thick anterior alveolar ridges HP:0009100 Midline cleft palate HP:0009099 Median cleft palate HP:0009099 Chronic oral candidiasis HP:0009098 Cleft lower alveolar ridge HP:0009094 Progressive alveolar ridge hypertropy HP:0009092 obsolete Facial diplegic appearance HP:0009090 Speech articulation difficulties HP:0009088 Posteriorly placed tongue HP:0009087 Thickened alveolar ridges HP:0009085 Thick alveolar ridges HP:0009085 Overgrowth of alveolar ridge HP:0009085 Hypertrophied alveolar ridge HP:0009085 Alveolar ridge overgrowth HP:0009085 Midline notch of upper alveolar ridge HP:0009084 Weakness of long finger extensor muscles HP:0009077 Progressive proximal muscle weakness HP:0009073 Muscle weakness, progressive, proximal HP:0009073 Hyporeflexia at ankle joints HP:0009072 Decreased Achilles reflex HP:0009072 Inflammatory myopathy HP:0009071 Lethal infantile mitochondrial myopathy HP:0009069 Progressive spinal muscular atrophy HP:0009067 Lipodystrophy, generalized HP:0009064 Generalized lipodystrophy HP:0009064 Progressive distal muscle weakness HP:0009063 Muscle weakness, progressive, distal HP:0009063 Muscle weakness, distal, progressive HP:0009063 Infantile axial hypotonia HP:0009062 Hypotonia, axial, in infancy HP:0009062 Scapular muscle atrophy HP:0009060 Congenital generalized lipodystrophy HP:0009059 Skeletal muscle lipid accumulation HP:0009058 Muscle lipidosis HP:0009058 Lipid accumulation in skeletal muscle HP:0009058 Increased muscle lipid content HP:0009058 Fat deposits in muscle fibers HP:0009058 Fat accumulation in muscle fibers HP:0009058 Loss of subcutaneous adipose tissue from upper limbs HP:0009056 Generalized muscle atrophy, proximal and distal HP:0009055 Generalized limb muscle atrophy HP:0009055 Scapuloperoneal myopathy HP:0009054 Muscle weakness, lower limb, distal HP:0009053 Distal muscle weakness in lower limbs HP:0009053 Distal lower limb muscle weakness HP:0009053 Increased muscle glycogen content HP:0009051 Quadriceps muscle atrophy HP:0009050 Peroneal muscle atrophy HP:0009049 Peroneal atrophy HP:0009049 Difficulty running HP:0009046 Rhabdomyolysis with exercise HP:0009045 Exercise-induced rhabdomyolysis HP:0009045 obsolete Hypoplasia of deltoid muscle HP:0009044 Deltoid muscle hypoplasia HP:0009044 Marked muscular hypertrophy HP:0009042 Segmental spinal muscular atrophy HP:0009037 Amyotrophy of ankle musculature HP:0009031 Generalized weakness of limb muscles HP:0009028 Footdrop HP:0009027 Foot extensor weakness HP:0009027 Foot drop HP:0009027 Foot dorsiflexor weakness HP:0009027 Hypoplasia of latissimus dorsi muscle HP:0009026 Increased connective tissue HP:0009025 Lax abdominal musculature HP:0009023 Abdominal wall muscle weakness HP:0009023 Exercise-induced muscle fatigue HP:0009020 Progressive loss of facial adipose tissue HP:0009019 Loss of subcutaneous adipose tissue from face, progressive HP:0009019 Loss of gluteal subcutaneous adipose tissue HP:0009017 Upper limb muscle hypoplasia HP:0009016 Congenital absence of gluteal muscles HP:0009013 Hypoplasia of serratus anterior muscle HP:0009011 Hypoplastic biceps HP:0009007 Weakness of the intrinsic hand muscles HP:0009005 Poorly developed skeletal musculature HP:0009004 Muscle hypoplasia HP:0009004 Hypoplasia of the musculature HP:0009004 Increased subcutaneous truncal adipose tissue HP:0009003 Loss of truncal subcutaneous adipose tissue HP:0009002 Loss of truncal adipose tissue HP:0009002 Loss of subcutaneous truncal adipose tissue HP:0009002 Pectoralis hypoplasia HP:0008998 Hypoplastic pectoral muscle HP:0008998 Proximal muscle weakness in upper limbs HP:0008997 Proximal muscle weakness in lower limbs HP:0008994 Muscle weakness, proximal, lower limbs HP:0008994 Increased intraabdominal fat HP:0008993 Exercise-induced leg cramps HP:0008991 Pelvic girdle muscle wasting HP:0008988 Pelvic girdle muscle atrophy HP:0008988 Agenesis of the diaphragm HP:0008986 Agenesis of diaphragm HP:0008986 Increased intramuscular fat HP:0008985 Neck muscle hypoplasia HP:0008984 Muscular hypertrophy of the calf muscles HP:0008981 Calf muscle hypertrophy HP:0008981 Calf hypertrophy HP:0008981 Necrotizing myopathy HP:0008978 Decreased activity of mitochondrial respiratory complexes HP:0008972 Decreased activity of mitochondrial respiratory chain HP:0008972 Decreased activities of mitochondrial-encoded respiratory chain complexes HP:0008972 Scapulohumeral muscular dystrophy HP:0008970 Leg muscle stiffness HP:0008969 Muscle hypertrophy of the lower extremities HP:0008968 Muscle stiffness, exercise-induced HP:0008967 Muscle stiffness with exercise HP:0008967 Exercise-induced muscle stiffness HP:0008967 Nonprogressive muscular atrophy HP:0008964 Tibialis muscle weakness HP:0008963 Hypoplastic calf muscles HP:0008962 Calf muscle hypoplasia HP:0008962 Distal upper limb muscle weakness HP:0008959 Thigh muscle atrophy HP:0008956 Proximal lower limb muscle atrophy HP:0008956 Proximal lower limb amyotrophy HP:0008956 Amyotrophy of the thigh musculature HP:0008956 Amyotrophy involving the thigh HP:0008956 Progressive distal muscular atrophy HP:0008955 Intrinsic hand muscle atrophy HP:0008954 Pectoralis major muscle hypoplasia HP:0008953 Pectoralis major hypoplasia HP:0008953 Shoulder muscle hypoplasia HP:0008952 Proximal upper limb muscle atrophy HP:0008948 Proximal upper limb amyotrophy HP:0008948 Proximal muscle atrophy in upper limbs HP:0008948 Infantile muscular hypotonia HP:0008947 Hypotonia, early HP:0008947 Hypotonia in infancy HP:0008947 Hypotonia early HP:0008947 Hypotonia (infancy) HP:0008947 Pelvic girdle amyotrophy HP:0008946 Hip girdle amyotrophy HP:0008946 Loss of ability to walk in early childhood HP:0008945 Muscle atrophy, lower limb, distal HP:0008944 Lower limb muscle hypotrophy HP:0008944 Lower limb atrophy HP:0008944 Lower leg amyotrophy HP:0008944 Distal/middle symphalangism of 2nd finger HP:0009563 Patchy sclerosis of the distal phalanx of the 2nd finger HP:0009562 Osteolytic defects of the distal phalanx of the 2nd finger HP:0009561 Acro-osteolysis of terminal index finger phalanx HP:0009561 Acro-osteolysis of index finger HP:0009561 Curved distal phalanx of the 2nd finger HP:0009560 Bullet-shaped distal phalanx of the 2nd finger HP:0009559 Broad distal phalanx of the 2nd finger HP:0009558 Aplasia/Hypoplasia of the distal phalanx of the 2nd finger HP:0009557 Aplasia of the tibia HP:0009556 Absent tibia HP:0009556 Hypoplasia of the pharynx HP:0009555 Projection of scalp hair onto lateral cheek HP:0009554 Abnormality of the hairline HP:0009553 Aplasia/Hypoplasia of the phalanges of the 2nd finger HP:0009552 Patchy sclerosis of the phalanges of the 2nd finger HP:0009551 Patchy sclerosis of 2nd finger phalanx HP:0009551 Osteolytic defects of the phalanges of the 2nd finger HP:0009550 Lytic defect in index finger phalanges HP:0009550 Curved phalanges of the 2nd finger HP:0009549 Bullet-shaped phalanges of the 2nd finger HP:0009548 Wide/broad index finger phalanges HP:0009547 Broad phalanges of the 2nd finger HP:0009547 Triangular shaped phalanges of the 2nd finger HP:0009546 Triangular index finger phalanges HP:0009546 Symphalangism of the 2nd finger HP:0009545 Symphalangism of index finger phalanges HP:0009545 Abnormality of the proximal phalanx of the 2nd finger HP:0009544 Abnormality of the proximal 2nd finger phalanx HP:0009544 Abnormality of the middle phalanx of the 2nd finger HP:0009543 Abnormality of middle 2nd finger phalanx HP:0009543 Abnormality of the distal phalanx of the 2nd finger HP:0009542 Abnormality of terminal index finger phalanx HP:0009542 Abnormality of the phalanges of the 2nd finger HP:0009541 Abnormality of 2nd finger phalanges HP:0009541 Contracture of the proximal interphalangeal joint of the 2nd finger HP:0009540 Camptodactyly of second finger HP:0009540 Camptodactyly of index finger HP:0009540 Camptodactyly of 2nd finger HP:0009540 Contracture of the metacarpophalangeal joint of the 2nd finger HP:0009539 Contracture of the distal interphalangeal joint of the 2nd finger HP:0009538 Joint contractures of the 2nd finger HP:0009537 Flexion contracture of the 2nd finger HP:0009537 Short index fingers HP:0009536 Short index finger phalanges HP:0009536 Short index finger HP:0009536 Short 2nd finger HP:0009536 Hypoplastic/small index finger HP:0009536 Hypoplastic index finger phalanges HP:0009536 Aplasia of the index finger HP:0009535 Aplasia of the 2nd finger HP:0009535 Absent index finger phalanges HP:0009535 Triangular epiphysis of the proximal phalanx of the 2nd finger HP:0009534 Triangular epiphysis of proximal index finger phalanx HP:0009534 Stippling of the epiphysis of the proximal phalanx of the 2nd finger HP:0009533 Small epiphysis of the proximal phalanx of the 2nd finger HP:0009532 Pseudoepiphysis of the proximal phalanx of the 2nd finger HP:0009531 Ivory epiphysis of the proximal phalanx of the 2nd finger HP:0009530 Irregular epiphysis of the proximal phalanx of the 2nd finger HP:0009529 Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger HP:0009528 Large epiphysis of proximal index finger phalanx HP:0009527 Enlarged epiphysis of the proximal phalanx of the 2nd finger HP:0009527 Cone-shaped epiphysis of the proximal phalanx of the 2nd finger HP:0009526 Cone-shaped epiphysis of proximal index finger phalanx HP:0009526 Bracket epiphysis of the proximal phalanx of the 2nd finger HP:0009525 Bracket epiphyses of proximal index finger phalanx HP:0009525 Absent epiphysis of the proximal phalanx of the 2nd finger HP:0009524 Triangular epiphysis of the middle phalanx of the 2nd finger HP:0009523 Stippling of the epiphysis of the middle phalanx of the 2nd finger HP:0009522 Small epiphysis of the middle phalanx of the 2nd finger HP:0009521 Pseudoepiphysis of the middle phalanx of the 2nd finger HP:0009520 Ivory epiphysis of the middle phalanx of the 2nd finger HP:0009519 Irregular epiphysis of the middle phalanx of the 2nd finger HP:0009518 Fragmentation of the epiphysis of the middle phalanx of the 2nd finger HP:0009517 Enlarged epiphysis of the middle phalanx of the 2nd finger HP:0009516 Cone-shaped epiphysis of the middle phalanx of the 2nd finger HP:0009515 Cone-shaped epiphyses of middle phalanx of index finger HP:0009515 Bracket epiphysis of the middle phalanx of the 2nd finger HP:0009514 Absent epiphysis of the middle phalanx of the 2nd finger HP:0009513 Absent epiphyses of middle phalanx of index finger HP:0009513 Triangular epiphysis of the distal phalanx of the 2nd finger HP:0009512 Stippling of the epiphysis of the distal phalanx of the 2nd finger HP:0009511 Small epiphysis of the distal phalanx of the 2nd finger HP:0009510 Pseudoepiphysis of the distal phalanx of the 2nd finger HP:0009509 Ivory epiphysis of the distal phalanx of the 2nd finger HP:0009508 Ivory epiphysis of terminal index finger phalanx HP:0009508 Irregular epiphysis of the distal phalanx of the 2nd finger HP:0009507 Fragmentation of the epiphysis of the distal phalanx of the 2nd finger HP:0009506 Enlarged epiphysis of the distal phalanx of the 2nd finger HP:0009505 Cone-shaped epiphysis of the distal phalanx of the 2nd finger HP:0009504 Bracket epiphysis of the distal phalanx of the 2nd finger HP:0009503 Absent ossification/absent epiphysis of terminal index finger phalanx HP:0009502 Absent epiphysis of the distal phalanx of the 2nd finger HP:0009502 Epiphyseal abnormality of the proximal phalanx of the 2nd finger HP:0009501 Abnormality of the epiphysis of the proximal phalanx of the 2nd finger HP:0009501 Epiphyseal abnormality of middle phalanx of the 2nd finger HP:0009500 Abnormality of the epiphysis of the middle phalanx of the 2nd finger HP:0009500 Epiphyseal abnormality of terminal index finger phalanx HP:0009499 Abnormality of the epiphysis of the distal phalanx of the 2nd finger HP:0009499 Triangular epiphyses of the 2nd finger HP:0009498 Stippling of the epiphyses of the 2nd finger HP:0009497 Small epiphyses of the 2nd finger HP:0009496 Pseudoepiphyses of the 2nd finger HP:0009495 Accessory index finger phalanges HP:0009495 Ivory epiphyses of the 2nd finger HP:0009494 Irregular epiphyses of the 2nd finger HP:0009493 Fragmentation of the epiphyses of the 2nd finger HP:0009492 Enlarged epiphyses of the 2nd finger HP:0009491 Cone-shaped epiphyses of the 2nd finger HP:0009490 Bracket-epiphyses (index finger) HP:0009489 Bracket epiphyses of the 2nd finger HP:0009489 Absent epiphyses of the 2nd finger HP:0009488 ulnar deviation of the hands HP:0009487 ulnar deviation of hands HP:0009487 Ulnar deviation of the hand HP:0009487 Radial deviation of the hand HP:0009486 Radial deviation of hands HP:0009486 Radial deviation of the hand or of fingers of the hand HP:0009485 Deviation of the hand or of fingers of the hand HP:0009484 Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metatcarpal HP:0009483 Proximal/middle symphalangism of 3rd finger HP:0009482 Symphalangism of the proximal phalanx of the 4th finger with the 4th metatcarpal HP:0009478 Proximal/middle symphalangism of 4th finger HP:0009477 Joint contracture of the hand HP:0009473 Contractures of the hands HP:0009473 Contractures involving the hands HP:0009473 Contracture of the proximal interphalangeal joint of the 3rd finger HP:0009471 Camptodactyly of the third finger HP:0009471 Camptodactyly of the 3rd finger HP:0009471 Contracture of the metacarpophalangeal joint of the 3rd finger HP:0009470 Contracture of the distal interphalangeal joint of the 3rd finger HP:0009469 Deviation of the 2nd finger HP:0009468 Deviated index finger HP:0009468 Second finger clinodactyly HP:0009467 Radially deviated index finger HP:0009467 Radial deviation of the 2nd finger HP:0009467 Radially deviated phalanges HP:0009466 Radially deviated fingers HP:0009466 Radial deviation of finger HP:0009466 Ulnar deviation of finger HP:0009465 Medially deviated fingers HP:0009465 Ulnar deviation of the 2nd finger HP:0009464 Ulnar deviation of index fingers HP:0009464 Ulnar angulation of the index finger HP:0009464 Second finger ulnar deviation HP:0009464 Medially deviated index finger HP:0009464 Ulnar deviation of the 3rd finger HP:0009463 Ulnar deviation of middle fingers HP:0009463 Radial deviation of the 3rd finger HP:0009462 Short middle finger HP:0009461 Short 3rd finger HP:0009461 Hypoplastic/small 3rd finger HP:0009461 Aplasia of the 3rd finger HP:0009460 Small proximal middle-finger phalanx HP:0009459 Short proximal phalanx of the third finger HP:0009459 Short proximal phalanx of the 3rd finger HP:0009459 Short proximal middle-finger phalanx HP:0009459 Hypoplastic/small proximal phalanx of the 3rd finger HP:0009459 Aplasia of the proximal phalanx of the 3rd finger HP:0009458 Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger HP:0009457 Triangular shaped proximal phalanx of the 3rd finger HP:0009456 Symphalangism affecting the proximal phalanx of the 3rd finger HP:0009455 Patchy sclerosis of the proximal phalanx of the 3rd finger HP:0009454 Osteolytic defects of the proximal phalanx of the 3rd finger HP:0009453 Curved proximal phalanx of the 3rd finger HP:0009452 Bullet-shaped proximal phalanx of the 3rd finger HP:0009451 Broad proximal phalanx of the 3rd finger HP:0009450 obsolete Hypoplastic/small phalanges of the 3rd finger HP:0009449 Small middle finger phalanges HP:0009449 Short middle finger phalanges HP:0009449 Hypoplastic middle finger phalanges HP:0009449 obsolete Aplasia of the phalanges of the 3rd finger HP:0009448 Absent middle finger phalanges HP:0009448 Aplasia/Hypoplasia of the phalanges of the 3rd finger HP:0009447 Triangular shaped phalanges of the 3rd finger HP:0009446 Symphalangism of the 3rd finger HP:0009445 Patchy sclerosis of the phalanges of the 3rd finger HP:0009444 Patchy sclerosis of middle finger phalanges HP:0009444 Patchy sclerosis of 3rd finger phalanx HP:0009444 Osteolytic defects of the phalanges of the 3rd finger HP:0009443 Lytic defects of middle finger phalanges HP:0009443 Curved phalanges of the 3rd finger HP:0009442 Bullet-shaped phalanges of the 3rd finger HP:0009441 Wide/broad middle finger phalanges HP:0009440 Broad phalanges of the 3rd finger HP:0009440 Short middle phalanx of the 3rd finger HP:0009439 Hypoplastic/small middle phalanx of the 3rd finger HP:0009439 Aplasia of the middle phalanx of the 3rd finger HP:0009438 Absent middle phalanx of middle finger HP:0009438 Absent middle phalanx of 3rd finger HP:0009438 Distal lower limb amyotrophy HP:0008944 Rhabdomyolysis, acute HP:0008942 Acute rhabdomyolysis HP:0008942 Generalized lymphadenopathy HP:0008940 Truncal hypotonia HP:0008936 Muscular hypotonia of the trunk HP:0008936 Axial hypotonia HP:0008936 Hypotonia, neonatal, generalized HP:0008935 Generalized neonatal hypotonia HP:0008935 Asymmetric short stature HP:0008929 Short-trunk dwarfism identifiable during childhood HP:0008922 Disproportionate short stature (short trunk), identifiable in childhood HP:0008922 Childhood-onset short-trunk short stature HP:0008922 Short-limbed dwarfism identifiable at birth HP:0008921 Short-limb dwarfism identifiable neonatally HP:0008921 Short-limb dwarfism identifiable at birth HP:0008921 Short limb dwarfism recognizable at birth HP:0008921 Neonatal short-limbed dwarfism HP:0008921 Neonatal short-limb short stature HP:0008921 Dwarfism, neonatal short-limbed HP:0008921 Truncal obesity apparent in childhood HP:0008915 Childhood-onset truncal obesity HP:0008915 Lethal short-limbed short stature HP:0008909 Lethal short-limbed dwarfism HP:0008909 Lethal micromelic dwarfism HP:0008909 Symmetrical rhizomelic limb shortening HP:0008905 Severe prenatal growth deficiency HP:0008846 Severe intrauterine growth retardation HP:0008846 Intrauterine growth retardation, severe HP:0008846 Short stature, mesomelic HP:0008845 Short stature, disproportionate mesomelic HP:0008845 Mesomelic short stature HP:0008845 Mesomelic dwarfism HP:0008845 Dwarfism, short limb mesomelic HP:0008845 Osteoarthritis of hip HP:0008843 Hip osteoarthritis HP:0008843 Small pelvis HP:0008839 Hypoplastic pelvis HP:0008839 Hypoplastic pelvic bones HP:0008839 Stippled calcification proximal humeral epiphyses HP:0008838 Multicentric femoral head ossification HP:0008835 Irregular acetabular roof HP:0008833 Hypoplastic pubic rami HP:0008830 Delayed femoral head ossification HP:0008829 Delayed proximal femoral epiphyseal ossification HP:0008828 Delayed ossification proximal femoral epiphyses HP:0008828 Delayed ossification of the proximal femoral epiphysis HP:0008828 Dislocation of the femoral head HP:0008826 Dislocated femoral heads HP:0008826 Small iliac bodies HP:0008824 Hypoplastic iliac body HP:0008824 Hypoplastic iliac bodies HP:0008824 Hypoplastic inferior pubic rami HP:0008823 Hypoplastic ischiopubic rami HP:0008822 Hypoplastic inferior ilia HP:0008821 Absent ossification of femoral capital epiphyses HP:0008820 Absent ossification of capital femoral epiphysis HP:0008820 Narrow femoral necks HP:0008819 Narrow femoral neck HP:0008819 Large iliac wings HP:0008818 Aplastic pubic bones HP:0008817 Flattened femoral heads HP:0008812 Flattened femoral head HP:0008812 Narrow, high iliac wings HP:0008808 High iliac wings HP:0008808 Dysplastic acetabulae HP:0008807 Acetabular dysplasia HP:0008807 Broad femoral head HP:0008804 Narrow sacroiliac notch HP:0008803 Small femoral heads HP:0008802 Hypoplastic femoral head HP:0008802 Hypoplasia of the femoral head HP:0008802 Lesser trochanter hypoplasia HP:0008801 Hypoplasia of the lesser trochanter HP:0008801 Limited hip movement HP:0008800 Widened sacrosciatic notch HP:0008798 Early ossification of capital femoral epiphyses HP:0008797 Externally rotated hips HP:0008796 Dysplastic iliac wings HP:0008794 Cone-shaped capital femoral epiphysis HP:0008789 Delayed pubic bone ossification HP:0008788 Delayed mineralization of pubic bone HP:0008788 Absent pubic ossification in infancy HP:0008788 Lacy appearance of iliac crest HP:0008786 Irregular lacy iliac crest HP:0008786 Iliac crest serration HP:0008786 Delayed ossification of pubic rami HP:0008785 Wide capital femoral epiphyses HP:0008784 Wide proximal femoral metaphysis HP:0008783 Congenital bilateral hip dislocation HP:0008780 Abnormality of the vocal cords HP:0008777 Abnormality of the renal artery HP:0008776 Abnormality of the prostate HP:0008775 Aplasia/Hypoplasia of the inner ear HP:0008774 Middle ear hypoplasia/aplasia HP:0008773 Hypoplastic/aplastic middle ear structures HP:0008773 Aplasia/Hypoplasia of the middle ear HP:0008773 Aplasia/Hypoplasia of the external ear HP:0008772 Aplasia/Hypoplasia of the ear HP:0008771 Obsessive-compulsive traits HP:0008770 Obsessive-compulsive trait HP:0008770 Inappropriate sexual behavior HP:0008768 Self-mutilation of tongue and lips due to involuntary movements HP:0008767 Auditory hallucinations HP:0008765 No social interaction HP:0008763 Repetitive compulsive behavior HP:0008762 Violent behavior HP:0008760 Unilateral vocal cord paralysis HP:0008757 Unilateral paralysis of the vocal cord HP:0008757 Bowing of the vocal cords HP:0008756 Laryngotracheomalacia HP:0008755 Laryngeal calcifications HP:0008754 Laryngeal calcification HP:0008754 Aplasia of the epiglottis HP:0008753 Vocal impairment, severe, due to laryngeal cartilage abnormalities HP:0008752 Laryngeal cartilage malformation HP:0008752 Laryngotracheoesophageal cleft i HP:0008751 Laryngotracheal cleft HP:0008751 Laryngeal cleft HP:0008751 Laryngeal atresia HP:0008750 Laryngeal hypoplasia HP:0008749 Hypoplastic larynx HP:0008749 Cartilaginous ossification of larynx HP:0008747 Abnormality of the aryepiglottic fold HP:0008744 Abnormal aryepiglottic folds HP:0008744 Subcoronal hypospadias HP:0008743 Coronal hypospadias HP:0008743 Prominent prostate median bar HP:0008742 Vertical vaginal septum HP:0008740 Longitudinal vaginal septum HP:0008740 Labial pseudohypertrophy HP:0008739 Partially duplicated kidney HP:0008738 Underdeveloped penis HP:0008736 Hypoplasia of penis HP:0008736 Testicular hypoplasia HP:0008734 Small testis HP:0008734 Small testes HP:0008734 Hypoplastic testes HP:0008734 Decreased testicular size HP:0008734 Dysplastic testes HP:0008733 Renal hypophosphatemia HP:0008732 Males with female external genitalia HP:0008730 Female external genitalia in individual with 46,XY karyotype HP:0008730 Absence of labia majora HP:0008729 Rudimentary vagina HP:0008726 Hypoplastic vagina HP:0008726 Hypoplasia of the vagina HP:0008726 Hypoplastic ovary HP:0008724 Hypoplasia of the ovary HP:0008724 Xy female gonadal dysgenesis HP:0008723 Gonadal dysgenesis with female appearance, male HP:0008723 Urethral diverticulum HP:0008722 Primary testicular failure HP:0008720 Unilateral renal dysplasia HP:0008718 Unilateral renal atrophy HP:0008717 Urethrovaginal fistulae HP:0008716 Urethrovaginal fistula HP:0008716 Testicular dysgenesis HP:0008715 Ureterovesical stenosis HP:0008714 Benign prostatic hypertrophy HP:0008711 Benign prostatic hyperplasia HP:0008711 Partial development of the penile shaft HP:0008708 Absent scrotum HP:0008707 Distal urethral duplication HP:0008706 Ureteral triplication HP:0008705 Gonadal calcification HP:0008703 Absent internal genitalia HP:0008702 Rudimentary fallopian tubes HP:0008697 Hypoplasia of the fallopian tube HP:0008697 Renal hamartoma HP:0008696 Transient nephrotic syndrome HP:0008695 Labia minora hypertrophy HP:0008694 Hypertrophic labia minora HP:0008694 Solitary bladder diverticulum HP:0008691 Cryptorchidism, bilateral HP:0008689 Bilateral cryptorchidism HP:0008689 Hypoplastic prostate HP:0008687 Hypoplasia of the prostate HP:0008687 Aplasia/hypoplasia of the uterus HP:0008684 Enlarged labia minora HP:0008683 Renal tubular necrosis HP:0008682 Acute tubular necrosis HP:0008682 Renal hypoplasia/aplasia HP:0008678 Renal aplasia/hypoplasia HP:0008678 Renal agenesis/hypoplasia HP:0008678 Congenital nephrotic syndrome HP:0008677 Congenital nephrosis HP:0008677 Congenital megaureter HP:0008676 Congenital megaloureter HP:0008676 Enlarged polycystic ovaries HP:0008675 Oxalate nephrolithiasis HP:0008672 Calcium oxalate urolithiasis HP:0008672 Calcium oxalate nephrolithiasis HP:0008672 Partial vaginal septum HP:0008670 Impaired spermatogenesis HP:0008669 Abnormal spermatogenesis HP:0008669 Abnormal sperm development HP:0008669 Gonadal dysgenesis, male HP:0008668 46,xy gonadal dysgenesis HP:0008668 Impaired histidine renal tubular absorption HP:0008666 Hypertrophic clitoris HP:0008665 Clitoral hypertrophy HP:0008665 Urethral sphincter sclerosis HP:0008664 Renal sarcoma HP:0008663 Urethral stenosis HP:0008661 Renotubular dysgenesis HP:0008660 Renal tubular dysgenesis HP:0008660 Multiple small medullary renal cysts HP:0008659 Medullary sponge kidney disease HP:0008659 Medullary cystic disease HP:0008659 Incomplete male pseudohermaphroditism HP:0008656 Aplasia/Hypoplasia of the fallopian tube HP:0008655 Absent or rudimentary fallopian tubes HP:0008655 Crescentic glomerulonephritis HP:0008653 Impotence due to autonomic dysfunction HP:0008652 Autonomic erectile dysfunction HP:0008652 Hypoplastic/small distal phalanx of the 2nd finger HP:0009566 Hypoplastic terminal index finger phalanx HP:0009566 Aplasia of the distal phalanx of the 2nd finger HP:0009565 Absent terminal index finger phalanx HP:0009565 Triangular shaped distal phalanx of the 2nd finger HP:0009564 Symphalangism of the distal and middle phalanges of the 2nd finger HP:0009563 Enlarged epiphysis of the distal phalanx of the 4th finger HP:0009253 Cone-shaped epiphysis of the distal phalanx of the 4th finger HP:0009252 Bracket epiphysis of the distal phalanx of the 4th finger HP:0009251 Absent epiphysis of the distal phalanx of the 4th finger HP:0009250 Abnormality of the epiphysis of the distal phalanx of the 4th finger HP:0009249 Abnormality of the epiphysis of the proximal phalanx of the 4th finger HP:0009248 Abnormality of the epiphysis of the middle phalanx of the 4th finger HP:0009247 Aplasia of the distal phalanx of the 5th finger HP:0009246 Triangular shaped distal phalanx of the 5th finger HP:0009245 Symphalangism of the terminal and middle phalanges of the 5th finger HP:0009244 Symphalangism of the distal and middle phalanges of the 5th finger HP:0009244 Fusion of the terminal and middle phalanges of the 5th finger HP:0009244 Fifth finger distal interphalangeal joint symphalangism HP:0009244 Distal/middle symphalangism of 5th finger HP:0009244 Patchy sclerosis of the distal phalanx of the 5th finger HP:0009243 Osteolytic defects of the distal phalanx of the 5th finger HP:0009242 Bullet-shaped distal phalanx of the 5th finger HP:0009241 Broad distal phalanx of the 5th finger HP:0009240 Aplasia/Hypoplasia of the distal phalanx of the 5th finger HP:0009239 Aplasia of the 5th finger HP:0009238 Short phalanges of the little finger HP:0009237 Short little finger HP:0009237 Short fifth fingers HP:0009237 Short fifth finger HP:0009237 Short 5th finger HP:0009237 Hypoplastic/small little finger HP:0009237 Hypoplastic/small 5th finger HP:0009237 Hypoplastic phalanges of the little finger HP:0009237 Fifth finger brachydactyly HP:0009237 Rhomboid or triangular shaped 5th finger proximal phalanx HP:0009236 Symphalangism of the proximal phalanx of the 5th finger with the 5th metatcarpal HP:0009234 Triangular shaped proximal phalanx of the 5th finger HP:0009233 Symphalangism affecting the proximal phalanx of the 5th finger HP:0009232 Patchy sclerosis of the proximal phalanx of the 5th finger HP:0009231 Osteolytic defects of the proximal phalanx of the 5th finger HP:0009230 Curved proximal phalanx of the 5th finger HP:0009229 Bullet-shaped proximal phalanx of the 5th finger HP:0009228 Wide proximal phalanx of the 5th finger HP:0009227 Broad proximal phalanx of the 5th finger HP:0009227 Short proximal phalanx of the fifth finger HP:0009226 Short proximal phalanx of the 5th finger HP:0009226 Hypoplastic/small proximal phalanx of the 5th finger HP:0009226 Aplasia of the proximal phalanx of the 5th finger HP:0009225 Triangular epiphysis of the middle phalanx of the 4th finger HP:0009224 Delta-shaped epiphysis of the middle phalanx of the 4th finger HP:0009224 Stippling of the epiphysis of the middle phalanx of the 4th finger HP:0009223 Small epiphysis of the middle phalanx of the 4th finger HP:0009222 Pseudoepiphysis of the middle phalanx of the 4th finger HP:0009221 Ivory epiphysis of the middle phalanx of the 4th finger HP:0009220 Irregular epiphysis of the middle phalanx of the 4th finger HP:0009219 Fragmentation of the epiphysis of the middle phalanx of the 4th finger HP:0009218 Enlarged epiphysis of the middle phalanx of the 4th finger HP:0009217 Cone-shaped epiphysis of the middle phalanx of the 4th finger HP:0009216 Bracket epiphysis of the middle phalanx of the 4th finger HP:0009215 Absent epiphysis of the middle phalanx of the 4th finger HP:0009214 Triangular epiphysis of the middle phalanx of the 5th finger HP:0009213 Delta-shaped epiphysis of the middle phalanx of the 5th finger HP:0009213 Stippling of the epiphysis of the middle phalanx of the 5th finger HP:0009212 Small epiphysis of the middle phalanx of the 5th finger HP:0009211 Pseudoepiphysis of the middle phalanx of the 5th finger HP:0009210 Ivory epiphysis of the middle phalanx of the 5th finger HP:0009209 Irregular epiphysis of the middle phalanx of the 5th finger HP:0009208 Fragmentation of the epiphysis of the middle phalanx of the 5th finger HP:0009207 Enlarged epiphysis of the middle phalanx of the 5th finger HP:0009206 Cone-shaped epiphysis of the middle phalanx of the 5th finger HP:0009205 Bracket epiphysis of the middle phalanx of the 5th finger HP:0009204 Absent epiphysis of the middle phalanx of the 5th finger HP:0009203 Fragmentation of the epiphysis of the proximal phalanx of the 5th finger HP:0009202 Stippling of the epiphysis of the proximal phalanx of the 5th finger HP:0009201 Pseudoepiphysis of the proximal phalanx of the 5th finger HP:0009200 Irregular epiphysis of the proximal phalanx of the 5th finger HP:0009199 Abnormality of the epiphysis of the terminal phalanx of the little finger HP:0009198 Abnormality of the epiphysis of the distal phalanx of the 5th finger HP:0009198 Bracket epiphysis of the proximal phalanx of the 5th finger HP:0009197 Absent metacarpal ossification center HP:0009196 Absent metacarpal epiphyses HP:0009196 Stippling of the epiphyses of the metacarpals HP:0009195 Epiphyseal stippling of the metacarpals HP:0009195 Small epiphyses of the metacarpals HP:0009194 Pseudoepiphyses of the metacarpals HP:0009193 Metacarpal pseudoepiphyses HP:0009193 Accessory proximal metacarpal ossification centers HP:0009193 Aplasia/Hypoplasia of the proximal phalanx of the 5th finger HP:0009192 Ivory epiphyses of the metacarpals HP:0009191 Irregular epiphyses of the metacarpals HP:0009190 Fragmentation of the metacarpal epiphyses HP:0009189 Pseudoepiphysis of the distal phalanx of the 5th finger HP:0009188 Bracket epiphysis of the distal phalanx of the 5th finger HP:0009187 Contracture of the metacarpophalangeal joint of the 5th finger HP:0009186 Contracture of the proximal interphalangeal joint of the 5th finger HP:0009185 5th finger camptodactyly HP:0009185 Contracture of the distal interphalangeal joint of the 5th finger HP:0009184 Joint contracture of the 5th finger HP:0009183 Fifth finger camptodactyly HP:0009183 Triangular shaped middle phalanx of the 5th finger HP:0009182 Ulnar deviation of the 5th finger HP:0009180 Laterally displaced fifth finger HP:0009179 Deviation of the 5th finger HP:0009179 Symphalangism of middle phalanx of 5th finger HP:0009178 Symphalangism of the proximal and middle phalanges of the 5th finger HP:0009177 Proximal/middle symphalangism of 5th finger HP:0009177 Proximal fifth finger symphalangism HP:0009177 Proximal 5th finger symphalangism HP:0009177 Fifth finger symphalangism HP:0009177 Patchy sclerosis of the middle phalanx of the 5th finger HP:0009175 Abnormality of the epiphyses of the 4th finger HP:0009174 Curved middle phalanx of the 5th finger HP:0009173 Abnormality of the phalanges of the ring finger HP:0009172 Abnormality of the phalanges of the 4th finger HP:0009172 Triangular epiphyses of the metacarpals HP:0009171 Osteolytic defects of the middle phalanx of the 5th finger HP:0009170 Wide middle phalanx of the 5th finger HP:0009169 Broad middle phalanx of the 5th finger HP:0009169 Bullet-shaped middle phalanx of the 5th finger HP:0009168 Irregular epiphysis of the distal phalanx of the 5th finger HP:0009167 Fragmentation of the epiphysis of the distal phalanx of the 5th finger HP:0009166 Stippling of the epiphysis of the distal phalanx of the 5th finger HP:0009165 Carpal calcifications HP:0009164 Abnormal calcification of the carpal bones HP:0009164 obsolete Abnormal form of the 5th finger HP:0009163 Aplasia of the middle phalanx of the 5th finger HP:0009162 Absent middle phalanx of 5th finger HP:0009162 Aplasia/Hypoplasia of the middle phalanx of the 5th finger HP:0009161 Absent/hypoplastic middle phalanx of 5th finger HP:0009161 Absent epiphysis of the proximal phalanx of the 5th finger HP:0009160 Small epiphysis of the proximal phalanx of the 5th finger HP:0009159 Enlarged epiphysis of the proximal phalanx of the 5th finger HP:0009158 Ivory epiphysis of the proximal phalanx of the little finger HP:0009157 Ivory epiphysis of the proximal phalanx of the 5th finger HP:0009157 Cone-shaped epiphysis of the proximal phalanx of the little finger HP:0009155 Cone-shaped epiphysis of the proximal phalanx of the 5th finger HP:0009155 Angel-shaped epiphysis of the proximal phalanx of the 5th finger HP:0009155 Triangular epiphysis of the proximal phalanx of the 5th finger HP:0009154 Delta-shaped epiphysis of the proximal phalanx of the 5th finger HP:0009154 Abnormality of the epiphysis of the proximal phalanx of the 5th finger HP:0009153 Abnormality of the epiphyses of the 5th finger HP:0009152 Abnormality of the proximal phalanx of the 5th finger HP:0009150 Triangular epiphysis of the distal phalanx of the 5th finger HP:0009149 Delta-shaped epiphysis of the distal phalanx of the 5th finger HP:0009149 Small epiphysis of the distal phalanx of the 5th finger HP:0009148 Enlarged epiphysis of the distal phalanx of the 5th finger HP:0009147 Abnormality of the cerebral arteries HP:0009145 Abnormality of cerebral artery HP:0009145 Supernumerary bones of the axial skeleton HP:0009144 Duplication of bones involving the upper extremities HP:0009142 Depletion of mitochondrial dna in skeletal muscle tissue HP:0009141 Depletion of mitochondrial DNA in muscle tissue HP:0009141 Synostosis involving bones of the feet HP:0009140 Osteolysis involving bones of the lower limbs HP:0009139 Synostosis involving bones of the lower limbs HP:0009138 Duplication involving bones of the feet HP:0009136 Osteolysis involving bones of the feet HP:0009134 Abnormality of bone mineral density involving tarsal bones HP:0009132 Abnormal tarsal bone mineral density HP:0009132 Abnormality of the musculature of the thorax HP:0009131 Hand muscle wasting, bilateral HP:0009130 Hand muscle wasting HP:0009130 Hand muscle atrophy HP:0009130 Amyotrophy of hand muscles HP:0009130 Uric acid urolithiasis independent of gout HP:0008651 Anteriorly displaced urethral meatus HP:0008648 Pubertal developmental failure in females HP:0008647 Nephroblastomatosis HP:0008643 Congenital macroorchidism HP:0008640 Gonadal hypoplasia HP:0008639 Lobular glomerulopathy HP:0008636 Hypertrophy of the urinary bladder HP:0008635 Hypertrophic urinary bladder HP:0008635 Absent gonadal tissue HP:0008633 Ureteral dysgenesis HP:0008631 Pulsatile tinnitus HP:0008629 Stapedial abnormalities HP:0008628 Abnormality of the stapes HP:0008628 Severe sensorineural hearing loss HP:0008625 Severe sensorineural hearing impairment HP:0008625 Hearing loss, sensorineural, bilateral HP:0008619 Bilateral sensorineural hearing loss HP:0008619 Bilateral sensorineural hearing impairment HP:0008619 Bilateral sensorineural deafness HP:0008619 Bilateral nerve deafness HP:0008619 Sensorineural deafness, late-onset HP:0008615 Late sensorineural hearing loss HP:0008615 Adult onset sensorineural hearing impairment HP:0008615 Infantile sensorineural hearing loss HP:0008610 Infantile sensorineural hearing impairment HP:0008610 Inferior lens subluxation HP:0008494 Premature anterior fontanel closure HP:0008491 Sacral segmentation defect HP:0008490 Spondylolysis and spondylolisthesis of l5 HP:0008489 Spondylolisthesis at L5-S1 HP:0008489 Anterior rounding of vertebral bodies HP:0008488 Lumbar interpedicular narrowing HP:0008486 Decreasing lumbar vertebrae interpediculate distance HP:0008486 Thoracolumbar interpediculate narrowness HP:0008484 Narrow thoracolumbar interpediculate distance HP:0008484 Cervical vertebral bodies with decreased anteroposterior diameter HP:0008483 Asymmetry of spinal facet joints HP:0008482 Cervical spondylosis HP:0008480 Small vertebral bodies HP:0008479 Small vertebrae HP:0008479 Hypoplastic vertebral bodies HP:0008479 Scheuermann-like vertebral changes HP:0008478 Poorly ossified cervical vertebrae HP:0008477 irregular, dense end plate HP:0008476 Irregular sclerotic endplates HP:0008476 Hypoplastic sacral vertebrae HP:0008475 Reduced sagittal diameter of vertebrae HP:0008473 Narrow anterio-posterior vertebral body diameter HP:0008473 Prominent protruding coccyx HP:0008472 Narrowness of interpediculate distances in lower thoracic regions HP:0008470 Lower thoracic interpediculate narrowness HP:0008470 Cervical vertebral dysplasia HP:0008469 Abnormal sacral segmentation HP:0008468 Thoracic hemivertebrae HP:0008467 Midthoracic hemivertebrae HP:0008467 Absent vertebrae HP:0008465 Absent spinous processes of lower thoracic and lumbar vertebrae HP:0008464 Central vertebral hypoplasia HP:0008463 Cervical instability HP:0008462 Cervical vertebral facet hypoplasia HP:0008461 Hypoplastic spinal processes HP:0008460 Cervical vertebral agenesis HP:0008459 Cervical vertebrae agenesis HP:0008459 Progressive congenital scoliosis HP:0008458 Caudal narrowing of interpedicular distances HP:0008457 Caudal interpedicular narrowing HP:0008457 C2-C3 subluxation HP:0008456 Dysplastic sacrum HP:0008455 Lumbar kyphosis HP:0008454 Lumbar gibbus deformity HP:0008454 Congenital kyphoscoliosis HP:0008453 Wafer-thin platyspondyly HP:0008452 Posterior vertebral hypoplasia HP:0008451 Narrowing of interpediculate distances HP:0008450 Narrow vertebral interpedicular distance HP:0008450 Narrow interpediculate distances HP:0008450 Narrow interpedicular space HP:0008450 Interpedicular narrowing HP:0008450 Progressive cervical vertebral spine fusion HP:0008449 Hypoplastic coccygeal vertebrae HP:0008447 Narrow cervical spinal canal HP:0008445 Cervical spinal canal stenosis HP:0008445 Posterior wedging of vertebral bodies HP:0008444 Spinal deformities HP:0008443 Vertebral hyperostosis HP:0008442 Herniation of intervertebral nuclei HP:0008441 Herniated intervertebral nuclei HP:0008441 C1-C2 vertebral abnormality HP:0008440 Lumbar hemivertebrae HP:0008439 Vertebral arch anomaly HP:0008438 Vertebral arch abnormalities HP:0008438 Bifid thoracic vertebrae HP:0008437 Absent/hypoplastic coccyx HP:0008436 Absent in utero ossification of vertebral bodies HP:0008435 Hypoplastic cervical vertebrae HP:0008434 Cervical vertebrae hypoplasia HP:0008434 Reversed usual vertebral column curves HP:0008433 Anterior wedging of L1 HP:0008432 Anterior tongue-like protrusion of lumbar vertebral bodies HP:0008430 Anterior beaking of lumbar vertebrae HP:0008430 Vertebral clefts HP:0008428 Vertebral clefting HP:0008428 Cuboid-shaped thoracolumbar vertebral bodies HP:0008425 Hypoplastic 5th lumbar vertebrae HP:0008424 Spinal dysplasia HP:0008423 Wedge-shaped vertebrae HP:0008422 Vertebral wedging HP:0008422 Tall lumbar vertebral bodies HP:0008421 Punctate vertebral calcifications HP:0008420 Intervertebral disc degeneration HP:0008419 Degenerative intervertebral disk HP:0008419 Degeneration of intervertebral disks HP:0008419 Squared-off platyspondyly HP:0008418 Vertebral hypoplasia HP:0008417 Underdeveloped vertebrae HP:0008417 Six lumbar vertebrae HP:0008416 Lumbar kyphosis in infancy HP:0008414 Subungual hyperkeratotic fragments HP:0008410 Hyperconvex thumb nails HP:0008407 Onychodystrophy HP:0008404 Nail dystrophy HP:0008404 Dystrophic nails HP:0008404 Ridged fingernails HP:0008402 Ridged fingernail HP:0008402 Longitudinally grooved fingernails HP:0008402 Onychogryposis of toenails HP:0008401 Onycholysis of distal fingernails HP:0008400 Circumungual hyperkeratosis HP:0008399 Hypoplastic fifth fingernail HP:0008398 Chronic monilial nail infection HP:0008396 Congenital onychodystrophy HP:0008394 Congenital curved nail of fourth toe HP:0008393 Subungual hyperkeratosis HP:0008392 Dystrophic fingernails HP:0008391 Recurrent shedding of toenails and fingernails HP:0008390 Recurrent loss of toenails and fingernails HP:0008390 Abnormality of the toenails HP:0008388 Abnormality of the toenail HP:0008388 Nail aplasia/hypoplasia HP:0008386 Aplasia/Hypoplasia of the nails HP:0008386 Absent/hypoplastic nails HP:0008386 Slow-growing nails HP:0008383 Abnormal nail growth HP:0008383 Nasal, dysarthic speech HP:0008376 Puberty and gonadal disorders HP:0008373 Abnormality of vitamin A metabolism HP:0008372 Abnormal ossification involving metatarsal bones HP:0008371 Abnormal metatarsal ossification HP:0008371 Abnormal tarsal ossification HP:0008369 Abnormal ossification of tarsal bones HP:0008369 Tarsal synostosis HP:0008368 Tarsal fusions HP:0008368 Tarsal fusion HP:0008368 Tarsal bone synostosis HP:0008368 Tarsal bone fusion HP:0008368 Synostosis of tarsal bones HP:0008368 Synostosis involving tarsal bones HP:0008368 Contractures involving the joints of the feet HP:0008366 Abnormality of the talus HP:0008365 Abnormality of the calcaneus HP:0008364 Aplastic/hypoplastic tarsals HP:0008363 Aplasia/Hypoplasia of the tarsal bones HP:0008363 Aplastic/hypoplastic halluces HP:0008362 Aplasia/Hypoplasia of the hallux HP:0008362 Corticospinal tract pallor HP:0008361 Neonatal hypoproteinemia HP:0008360 Hyperprolinemia HP:0008358 Reduced factor XIII activity HP:0008357 Combined hyperlipidemia HP:0008356 Factor X activation deficiency HP:0008354 Neutral hyperaminoaciduria HP:0008353 Impaired platelet adhesion HP:0008352 Reduced IgG2 levels HP:0008348 Immunoglobulin IgG2 deficiency HP:0008348 Respiratory complex IV deficiency HP:0008347 Decreased activity of mitochondrial complex IV HP:0008347 Increased red cell sickling tendency HP:0008346 Hypoplasia of the iris dilator muscle HP:0008345 Elevated plasma branched chain amino acids HP:0008344 Renal tubular acidosis, type I HP:0008341 Distal renal tubular acidosis HP:0008341 Diaminoaciduria HP:0008339 Partial functional complement factor D deficiency HP:0008338 Complex organic aciduria HP:0008336 Renal aminoaciduria HP:0008335 Elevated creatine kinase after exercise HP:0008331 Reduced von Willebrand factor activity HP:0008330 Microscopic nephrocalcinosis HP:0008327 Vitamin B6 deficiency HP:0008326 Abnormal rod and cone electroretinogram HP:0008323 Abnormal light- and dark-adapted electroretinogram HP:0008323 Abnormal mitochondrion morphology HP:0008322 Abnormal mitochondrial morphology HP:0008322 Reduced factor X activity HP:0008321 Factor X deficiency HP:0008321 Impaired collagen-induced platelet aggregation HP:0008320 Elevated leukocyte alkaline phosphatase HP:0008318 Abnormal mitochondria in muscle tissue HP:0008316 Abnormal mitochondria in muscle HP:0008316 Decreased plasma free carnitine HP:0008315 Respiratory complex II deficiency HP:0008314 Decreased activity of mitochondrial complex II HP:0008314 Spinal cord posterior columns myelin loss HP:0008311 Medium chain dicarboxylic aciduria HP:0008309 Abnormal iron deposition in mitochondria HP:0008306 Exercise-induced myoglobinuria in adults HP:0008305 Exercise-induced myoglobinuria HP:0008305 Olivary degeneration HP:0008303 Dermatan sulfate excretion in urine HP:0008301 Transient hyperphenylalaninemia HP:0008297 Long-chain dicarboxylic aciduria HP:0008293 Pituitary corticotropic cell adenoma HP:0008291 Corticotropin-secreting pituitary adenoma HP:0008291 ACTH-producing pituitary adenoma HP:0008291 Partial complement factor H deficiency HP:0008290 Short stature, rhizomelic HP:0008905 Rhizomelic shortening HP:0008905 Rhizomelic short stature HP:0008905 Rhizomelic short limbs HP:0008905 Rhizomelic limb shortening HP:0008905 Rhizomelic dwarfism HP:0008905 Rhizomelia HP:0008905 Postnatal growth retardation HP:0008897 Postnatal growth failure HP:0008897 Postnatal growth deficiency HP:0008897 Postnatal growth deceleration HP:0008897 Growth retardation as children HP:0008897 Severe short-limb dwarfism HP:0008890 Adipose tissue loss HP:0008887 Mild prenatal growth deficiency HP:0008883 Mild intrauterine growth retardation HP:0008883 Short-limbed dwarfism HP:0008873 Short-limb dwarfism HP:0008873 Short stature, disproportionate short-limb HP:0008873 Short stature, disproportionate short limb HP:0008873 Short limb dwarfism, disproportionate HP:0008873 Short limb dwarfism HP:0008873 Micromelic dwarfism HP:0008873 Dwarfism, short-limbed HP:0008873 Disproportionate short-limb short stature HP:0008873 Disproportionate short limb dwarfism HP:0008873 Brachymelic dwarfism HP:0008873 Feeding difficulties in infancy HP:0008872 Failure to thrive secondary to recurrent infections HP:0008866 Short-trunk dwarfism identifiable at birth HP:0008857 Neonatal short-trunk short stature HP:0008857 Moderate postnatal growth retardation HP:0008855 Severe postnatal growth retardation HP:0008850 Severe postnatal growth failure HP:0008850 Severe postnatal growth deficiency HP:0008850 Marked growth retardation HP:0008850 Short stature, moderate HP:0008848 Moderately short stature HP:0008848 Moderate short stature HP:0008848 Nonketotic hyperglycinemia HP:0008288 Transient hypophosphatemia HP:0008285 Fasting hyperinsulinemia HP:0008283 Unconjugated hyperbilirubinemia HP:0008282 Hyperammonemia, acute HP:0008281 Acute hyperammonemia HP:0008281 Transient hyperlipidemia HP:0008279 Cerebellar cortical atrophy HP:0008278 Abnormality of zinc homeostasis HP:0008277 Abnormal zinc metabolism HP:0008277 Abnormal light-adapted electroretinogram HP:0008275 Abnormal cone-mediated electroretinogram HP:0008275 Transient aminoaciduria HP:0008273 Renal tubular lysine transport defect HP:0008272 Abnormal type II collagen HP:0008271 Abnormal hyaline collagen HP:0008271 Abnormal cartilage collagen HP:0008271 Increased red cell hemolysis by shear stress HP:0008269 Mitochondrial lysine transport defect HP:0008265 Neutrophil inclusion bodies HP:0008264 Dohle-like leukocyte inclusion bodies HP:0008264 Thyroid defect in oxidation and organification of iodide HP:0008263 Pancreatic islet cell adenoma HP:0008261 Adrenocorticotropin (ACTH) receptor (ACTHR) defect HP:0008259 Adrenocorticotropic hormone-resistant adrenal insufficiency HP:0008259 Congenital adrenal hyperplasia HP:0008258 Primary adrenal insufficiency HP:0008207 Adrenocortical insufficiency HP:0008207 Addison's disease HP:0008207 Addison disease HP:0008207 Insulin-dependent but ketosis-resistant diabetes HP:0008205 Precocious puberty with Sertoli cell tumor HP:0008204 Prolactin deficiency HP:0008202 Primary hyperparathyroidism HP:0008200 Neonatal hypoparathyroidism HP:0008198 Congenital hypoparathyroidism HP:0008198 Absence of pubertal development HP:0008197 Multiple pancreatic beta-cell adenomas HP:0008194 Primary gonadal insufficiency HP:0008193 Thyroid agenesis HP:0008191 Athyroidal hypothyroidism HP:0008191 Insulin insensitivity HP:0008189 Thyroid dysplasia HP:0008188 Thyroid dysgenesis HP:0008188 No secondary sexual characteristics at puberty HP:0008187 Absence of secondary sex characteristics HP:0008187 Adrenocortical cytomegaly HP:0008186 Precocious puberty in males HP:0008185 Male precocious puberty HP:0008185 Adrenocortical hypoplasia HP:0008182 Abetalipoproteinemia HP:0008181 Moderately increased serum creatine kinase HP:0008180 Mildly increased serum creatine kinase HP:0008180 Mildly increased creatine kinase HP:0008180 Mildly elevated creatine phosphokinase HP:0008180 Decreased Arden ratio of electrooculogram HP:0008179 Abnormal cartilage matrix HP:0008178 Neonatal unconjugated hyperbilirubinemia HP:0008176 Reduced factor VII activity HP:0008169 Factor VII deficiency HP:0008169 Very long chain fatty acid accumulation HP:0008167 Decreased beta-galactosidase activity (leukocyte, fibroblast, plasma) HP:0008166 Decreased beta-galactosidase activity HP:0008166 Beta-galactosidase-1 deficiency HP:0008166 Beta-galactosidase deficiency in fibroblasts and white blood cells HP:0008166 Reduced circulating T-helper cells HP:0008165 Plasma cortisol low HP:0008163 Low to undetectable plasma cortisol HP:0008163 Decreased circulating cortisol level HP:0008163 Hyperammonemia, asymptomatic HP:0008162 Asymptomatic hyperammonemia HP:0008162 Absent leukocyte alkaline phosphatase HP:0008161 3-hydroxydicarboxylic aciduria HP:0008160 Hyperapobetalipoproteinemia HP:0008158 Mucopolysacchariduria HP:0008155 Periodic hypokalemic paresis HP:0008153 Hypokalemic periodic paresis HP:0008153 Prolonged prothrombin time HP:0008151 Elevated serum transaminases during infections HP:0008150 Impaired epinephrine-induced platelet aggregation HP:0008148 Flattening of the talar dome HP:0008144 Delayed calcaneal ossification HP:0008142 Dislocation of toes HP:0008141 Hindfoot equinus HP:0008138 Equinus deformity of the calcaneus HP:0008138 Equinus calcaneus HP:0008138 Irregular tarsal ossification HP:0008134 Irregular tarsal centers HP:0008134 Distal tapering of metatarsals HP:0008133 Medial rotation of the medial malleolus HP:0008132 Tarsal stippling HP:0008131 Punctate tarsal calcification HP:0008131 Punctate calcifications of tarsals HP:0008131 Extra calcaneal ossification center HP:0008127 Double calcaneal ossification center HP:0008127 Delayed fusion of bipartite calcanei HP:0008127 Delayed coalescence of calcaneal ossification centers HP:0008127 Delayed coalescence of bipartite calcanei HP:0008127 Bipartite calcaneus HP:0008127 Second metatarsal posteriorly placed HP:0008125 Talipes calcaneovarus HP:0008124 Calcaneonavicular fusion HP:0008122 Deformed tarsal bones HP:0008119 Shortening of the talar neck HP:0008117 Flexion limitation of toes HP:0008116 Clinodactyly of the 3rd toe HP:0008115 3rd toe clinodactyly HP:0008115 Metatarsal diaphyseal endosteal sclerosis HP:0008114 Multiple plantar creases HP:0008113 Plantar flexion contractures HP:0008112 Broad distal hallux HP:0008111 Equinovarus deformity HP:0008110 Precociously ossified tarsal bones HP:0008108 Advanced tarsal ossification HP:0008108 Plantar crease between first and second toes HP:0008107 Tarsal delayed ossification HP:0008103 Delayed tarsal ossification HP:0008103 Expanded metatarsals with widened medullary cavities HP:0008102 Partial fusion of tarsals HP:0008097 Medially deviated second toe HP:0008096 Osteolysis of talus HP:0008095 Osteolysis of tali HP:0008095 Widely spaced toes HP:0008094 Short fourth toe HP:0008093 Short 4th toe HP:0008093 Ankylosis of feet small joints HP:0008090 Abnormality of the fifth metatarsal bone HP:0008089 Nonossified fifth metatarsal HP:0008087 2nd-5th toe middle phalangeal hypoplasia HP:0008083 Medial deviation of the foot HP:0008082 Valgus foot deformity HP:0008081 Medially deviated halluces HP:0008080 Hallux varus HP:0008080 Aplasia of the fifth metatarsal bone HP:0008079 Absent fifth metatarsal HP:0008079 Absent 5th metatarsals HP:0008079 Thin metatarsal cortices HP:0008078 Osteoporotic tarsals HP:0008076 Progressive pes cavus HP:0008075 Metatarsal periosteal thickening HP:0008074 Low maternal serum estriol HP:0008073 Maternal virilization in pregnancy HP:0008072 Maternal hypertension HP:0008071 Thinned hair HP:0008070 Thin, sparse hair HP:0008070 Thin hair HP:0008070 Sparse hair HP:0008070 Tumor of the skin HP:0008069 Skin tumors HP:0008069 Skin cancer HP:0008069 Neoplasm of the skin HP:0008069 Neoplasia of the skin HP:0008069 Dermatological tumors HP:0008069 Abnormally lax or hyperextensible skin HP:0008067 Skin bullae HP:0008066 Skin blisters HP:0008066 Blisters HP:0008066 Blistering, generalized HP:0008066 Abnormal blistering of the skin HP:0008066 Aplasia/Hypoplasia of the skin HP:0008065 Ichthyotic skin HP:0008064 Ichthyosis HP:0008064 Ichthyosiform abnormality of the skin HP:0008064 Hypertrophic ichthyosis HP:0008064 Aplasia/Hypoplasia of the lens HP:0008063 Aplasia/Hypoplasia affecting the anterior segment of the eye HP:0008062 Aplasia/Hypoplasia of the retina HP:0008061 Aplasia/Hypoplasia of the fovea HP:0008060 Aplasia/Hypoplasia of the macula HP:0008059 Aplasia/Hypoplasia of the optic nerve HP:0008058 Aplasia/Hypoplasia affecting the fundus HP:0008057 Aplasia/Hypoplasia affecting the eye HP:0008056 Aplasia/Hypoplasia affecting the uvea HP:0008055 Abnormality of the vasculature of the conjunctiva HP:0008054 Aplasia/Hypoplasia of the iris HP:0008053 Retinal folds HP:0008052 Retinal fold HP:0008052 obsolete Abnormality of the retinal pigment epithelium HP:0008051 Retinal pigmentary anomaly HP:0008051 Abnormality of the palpebral fissures HP:0008050 Abnormality of the extraocular muscles HP:0008049 Abnormality of the line of Schwalbe HP:0008048 Abnormality of the vasculature of the eye HP:0008047 Abnormality of the retinal vasculature HP:0008046 High flash visual evoked potentials HP:0008045 Enlarged flash visual evoked potentials HP:0008045 Retinal arteriolar narrowing HP:0008043 Retinal arteriolar constriction HP:0008043 Narrow retinal arterioles HP:0008043 Constricted retinal arterioles HP:0008043 Late onset congenital glaucoma HP:0008041 Subepithelial corneal opacities HP:0008039 Aplastic/hypoplastic lacrimal glands HP:0008038 Absent anterior eye chamber HP:0008037 obsolete Rod-cone dystrophy HP:0008036 Retinitis pigmentosa inversa HP:0008035 Central retinitis pigmentosa HP:0008035 Abnormal iris pigmentation HP:0008034 Congenital exotropia HP:0008033 Posterior Y-sutural cataracts HP:0008031 Posterior Y-sutural cataract HP:0008031 Retinal arteritis HP:0008030 Cystoid macular degeneration HP:0008028 Cystic macular degeneration HP:0008028 Horizontal opticokinetic nystagmus HP:0008026 Congenital nuclear cataract HP:0008024 Progressive cone dystrophy HP:0008020 Progressive cone degeneration HP:0008020 Superior lens subluxation HP:0008019 obsolete Depigmented lesions of the retinal pigment epithelium HP:0008017 Central fundal arteriolar microaneurysms HP:0008014 Congenital myopia HP:0008012 Peripheral opacification of the cornea HP:0008011 Peripheral corneal opacity HP:0008011 Three rows of eyelashes HP:0008009 obsolete Progressive central visual loss HP:0008008 Morphological abnormality of the middle ear HP:0008609 Middle ear malformation HP:0008609 Hypertrophic auricular cartilage HP:0008608 Progressive conductive hearing impairment HP:0008607 Progressive conductive deafness HP:0008607 Supraauricular sinuses HP:0008606 Supraauricular sinus HP:0008606 Supraauricular pit HP:0008606 Unilateral external ear deformity HP:0008605 Mild conductive hearing impairment HP:0008598 Conductive hearing loss, mild HP:0008598 Postlingual sensorineural hearing impairment HP:0008596 Prominent antitragus HP:0008593 Hypertrophic antitragus HP:0008593 Hyperplastic antitragus HP:0008593 Enlarged antitragus HP:0008593 Congenital conductive hearing loss HP:0008591 Congenital conductive hearing impairment HP:0008591 Congenital conductive deafness HP:0008591 Hypoplastic helices HP:0008589 Slit-like opening of the exterior auditory meatus HP:0008588 Mild neurosensory hearing loss HP:0008587 Mild neurosensory hearing impairment HP:0008587 Hypoplastic cochlea HP:0008586 Hypoplasia of the cochlea HP:0008586 Underfolded superior helices HP:0008583 Underfolded helix HP:0008577 Poorly folded helices HP:0008577 Low-frequency sensorineural hearing loss HP:0008573 Low-frequency sensorineural hearing impairment HP:0008573 External ear malformation HP:0008572 Snail ear HP:0008569 Shell ear HP:0008569 Severe cupped ear, type III HP:0008569 Mini ear HP:0008569 Microtia, second degree HP:0008569 Ear, grade II dysplasia HP:0008569 Constricted helix type IV HP:0008569 Cockleshell ear HP:0008569 Vestibular ataxia HP:0008568 Vestibular areflexia HP:0008568 Underdeveloped superior helices HP:0008559 Hypoplastic superior helix HP:0008559 Absent vestibular function HP:0008555 Cochlear malformation HP:0008554 Underdeveloped ears HP:0008551 Small pinnae HP:0008551 Small ears HP:0008551 Microtia HP:0008551 Hypoplastic pinna HP:0008551 Hypoplastic ears HP:0008551 Hypoplasia of the external ear HP:0008551 Bilateral microtia HP:0008551 Abnormally folded helix HP:0008544 Low-frequency hearing loss HP:0008542 Superiorly displaced ears HP:0008541 Cleft at the superior portion of the pinna HP:0008537 Absent middle ear reflexes HP:0008529 Absence of acoustic reflex HP:0008529 Absence of acoustic middle ear muscle reflexes HP:0008529 Long hairs growing from helix of pinna HP:0008528 Hearing loss, congenital sensorineural HP:0008527 Congenital sensorineural hearing loss HP:0008527 Congenital sensorineural hearing impairment HP:0008527 Congenital sensorineural deafness HP:0008527 Congenital perceptive deafness HP:0008527 Congenital neurosensory deafness HP:0008527 Bilateral congenital sensorineural deafness HP:0008527 Posterior helix pit HP:0008523 Pits in posterior aspect of ear helices HP:0008523 Helix, posterior pit HP:0008523 Ear, posterior helical notch HP:0008523 Ear, posterior helical groove HP:0008523 Abnormality of the coccyx HP:0008519 Aplasia/Hypoplasia involving the vertebral column HP:0008518 Aplasia/Hypoplasia of the sacrum HP:0008517 Abnormality of the vertebral spinous processes HP:0008516 Aplasia/Hypoplasia of the vertebrae HP:0008515 Bilateral conductive hearing loss HP:0008513 Bilateral conductive hearing impairment HP:0008513 Bilateral conductive deafness HP:0008513 Central posterior corneal opacity HP:0008511 Aged leonine appearance HP:0008509 Static ophthalmoparesis HP:0008507 Moderate sensorineural hearing impairment HP:0008504 Moderate neural deafness HP:0008504 Wide midline cleft lip/palate HP:0008501 Midline cleft lip/palate HP:0008501 Median cleft lip and palate HP:0008501 Medial cleft lip and palate HP:0008501 High-grade hypermetropia HP:0008499 No permanent dentition HP:0008498 Congenital craniofacial dysostosis HP:0008497 Multiple rows of eyelashes HP:0008496 Progressive central vision loss HP:0008008 Primary congenital glaucoma HP:0008007 Congenital corneal dystrophy HP:0008005 Jerky smooth pursuit HP:0008003 Jerky ocular pursuit movements HP:0008003 Macular pigmentary changes HP:0008002 Abnormality of macular pigmentation HP:0008002 Foveal hyperpigmentation HP:0008001 Reduced corneal reflex HP:0008000 Decreased corneal reflex HP:0008000 Decreased blink reflex HP:0008000 Tunnel vision HP:0007994 Peripheral visual field loss HP:0007994 Kalnienk vision HP:0007994 Malformed lacrimal ducts HP:0007993 Lattice retinal degeneration HP:0007992 Iris stromal hypoplasia HP:0007990 Hypoplastic iris stroma HP:0007990 Hypoplastic iris stoma HP:0007990 Intraretinal exudate HP:0007989 Macular hypopigmentation HP:0007988 Progressive visual field defects HP:0007987 Increased retinal vascularity HP:0007986 Retinal arteriolar occlusion HP:0007985 Reduced rod b-wave (ERG) HP:0007984 Reduced amplitude of dark-adapted bright flash electroretinogram b-wave HP:0007984 Retinal depigmentation HP:0007894 Hypopigmentation of the fundus HP:0007894 Decreased retinal pigmentation HP:0007894 Retinal degeneration, progressive HP:0007893 Progressive retinal degeneration HP:0007893 Hypoplastic lacrimal puncta HP:0007892 Hypoplasia of the lacrimal puncta HP:0007892 Iridescent posterior subcapsular cataract HP:0007889 Cataracts, posterior, subcapsular, iridescent HP:0007889 Absent ocular muscles HP:0007886 Absent extraocular muscles HP:0007886 Slowed horizontal saccades HP:0007885 Central corneal dystrophy HP:0007881 Marginal corneal dystrophy HP:0007880 Allergic conjunctivitis HP:0007879 Juvenile cortical cataract HP:0007876 Congenital blindness HP:0007875 Congenital amaurosis HP:0007875 Almond-shaped palpebral fissure HP:0007874 Prominent Schwalbe lines HP:0007873 Abnormally prominent line of Schwalbe HP:0007873 Choroidal hemangioma HP:0007872 obsolete Peripheral retinopathy HP:0007869 Senile macular degeneration HP:0007868 Age-related macular degeneration HP:0007868 Restrictive partial external ophthalmoplegia HP:0007867 Retinal infarction HP:0007866 Retinal calcification HP:0007862 Congenital horizontal nystagmus HP:0007859 Lacunar retinal depigmentation HP:0007858 Chorioretinal lacunae HP:0007858 Punctate opacification of the cornea HP:0007856 Punctate corneal opacities HP:0007856 Glaucomatous visual field defect HP:0007854 obsolete Pericentral pigmentary retinopathy HP:0007852 obsolete Temporal displacement of maculae HP:0007851 Retinal vascular proliferation HP:0007850 Attenuation of retinal blood vessels HP:0007843 Vitreous amyloid deposits HP:0007841 Amyloid deposition in the vitreous humor HP:0007841 Long upper eyelashes HP:0007840 Progressive ptosis HP:0007838 Mosaic corneal dystrophy HP:0007836 S-shaped palpebral fissures HP:0007835 Progressive cataract HP:0007834 Cataract, progressive HP:0007834 Anterior chamber synechiae HP:0007833 Pigmentation of the sclera HP:0007832 Nonprogressive restrictive external ophthalmoplegia HP:0007831 Adult-onset night blindness HP:0007830 Diffuse retinal cone degeneration HP:0007829 Nodular corneal dystrophy HP:0007827 obsolete Cataracts develop in second or third decade HP:0007825 Total ophthalmoplegia HP:0007824 Total internal and external ophthalmoplegia HP:0007824 Global paralysis of gaze HP:0007824 Complete ophthalmoplegia HP:0007824 Central retinal exudate HP:0007822 Atretic lacrimal punctum HP:0007820 Atretic lacrimal puncta HP:0007820 Presenile cataracts HP:0007819 Presenile cataract HP:0007819 Ring iris heterochromia HP:0007818 Central heterochromia HP:0007818 Horizontal supranuclear gaze palsy HP:0007817 Abnormal distribution of retinal arterioles and venules HP:0007815 Salt and pepper retinopathy HP:0007814 Salt and pepper retinal pigmentation HP:0007814 Retinal pigment epithelium irregularity HP:0007814 Retinal pigment epithelial mottling HP:0007814 RPE irregularity HP:0007814 Focal hypopigmentation of the retinal pigment epithelium HP:0007814 Nongranulomatous uveitis HP:0007813 Herpetiform corneal ulcers HP:0007812 Herpetiform corneal ulceration HP:0007812 Nystagmus, congenital horizontal HP:0007811 Horizontal pendular nystagmus HP:0007811 obsolete Progressive bifocal chorioretinal atrophy HP:0007810 Punctate corneal dystrophy HP:0007809 Bilateral retinal coloboma HP:0007808 Optic nerve compression HP:0007807 Total colorblindness HP:0007803 Monochromacy HP:0007803 Complete achromatopsia HP:0007803 Granular corneal dystrophy HP:0007802 obsolete Fishnet retinal pigmentation HP:0007801 Increased axial globe length HP:0007800 Conjunctival whitish salt-like deposits HP:0007799 obsolete Foveal dystrophy HP:0007798 Progressive foveal dystrophy HP:0007798 Retinal vascular malformation HP:0007797 Anterior cortical cataract HP:0007795 Macular retinal pigment epithelial mottling HP:0007793 Granular macular appearance HP:0007793 Microsaccadic pursuit HP:0007792 Patchy atrophy of the retinal pigment epithelium HP:0007791 Posterior subcapsular opacities of the lens HP:0007787 Posterior subcapsular cataracts HP:0007787 Posterior subcapsular cataract HP:0007787 obsolete Lacunar retinal depigmentation HP:0007786 obsolete Butterfly retinal pigment epithelial dystrophy HP:0007783 Peripheral retinal cone degeneration HP:0007782 Cortical pulverulent cataract HP:0007780 Cataracts, cortical pulverulent HP:0007780 Anterior segment of eye aplasia HP:0007779 Posterior retinal neovascularization HP:0007778 Posterior retinal neovascularisation HP:0007778 Chorioretinal scar HP:0007777 Sparse lower eyelashes HP:0007776 Partial absence of lower eyelashes HP:0007776 Hypoplasia of the ciliary body HP:0007774 Vitreoretinopathy HP:0007773 Vitreoretinal abnormality HP:0007773 Impairment of visual pursuit HP:0007772 Impaired smooth pursuit HP:0007772 Abnormality of visual tracking HP:0007772 Abnormal visual pursuit HP:0007772 Retinal hypoplasia HP:0007770 Hypoplasia of the retina HP:0007770 Peripheral retinal degeneration HP:0007769 Tortuosity of main retinal vessels HP:0007768 Central retinal vessel vascular tortuosity HP:0007768 Optic disc hypoplasia HP:0007766 Hypoplastic optic disks HP:0007766 Deep anterior chamber HP:0007765 Retinal telangiectasia HP:0007763 Pericentral scotoma HP:0007761 Crystalline corneal dystrophy HP:0007760 Opacification of the corneal stroma HP:0007759 Corneal stromal opacity HP:0007759 Cloudy corneas HP:0007759 Cloudy cornea HP:0007759 Congenital visual impairment HP:0007758 obsolete Hypoplasia of choroid HP:0007757 Slitlike anterior chamber angles in children HP:0007756 Juvenile epithelial corneal dystrophy HP:0007755 Macular dystrophy HP:0007754 Hypoplasia of the fovea HP:0007750 Foveal hypoplasia HP:0007750 Dull foveal reflex HP:0007750 Irido-fundal coloboma HP:0007748 Monocular horizontal nystagmus HP:0007747 Iridoretinal coloboma HP:0007744 Coloboma of iris and retina HP:0007744 Long eyelashes in irregular rows HP:0007740 obsolete Mildly reduced visual acuity HP:0007739 Uncontrolled eye movements HP:0007738 Retinal bone corpuscle pigmentation HP:0007737 Retinal 'bone corpuscle' pigmentation HP:0007737 Fundus with peripheral bony spicules HP:0007737 Bone spicule pigmentation of the retina HP:0007737 Bone corpuscle fundus pigmentation HP:0007737 obsolete Pericentral retinal dystrophy HP:0007736 Enlarged lacrimal glands HP:0007734 Laterally curved eyebrow HP:0007733 Lacrimal gland hypoplasia HP:0007732 Hypoplastic lacrimal gland HP:0007732 Chorioretinal dysplasia HP:0007731 Reduced iris pigmentation HP:0007730 Iris hypopigmentation HP:0007730 Congenital miosis HP:0007728 Superficial corneal opacities HP:0007727 Opacification of the corneal epithelium HP:0007727 Retinal pigment epithelial atrophy HP:0007722 Saccular conjunctival aneurysms HP:0007721 Flat cornea HP:0007720 Cornea plana HP:0007720 Chronic irritative conjunctivitis HP:0007717 Uveal melanoma HP:0007716 Intraocular melanoma HP:0007716 Weak extraocular muscles HP:0007715 Juvenile zonular cataracts HP:0007713 obsolete Choroidal dystrophy HP:0007712 Choroidal dystrophy HP:0007712 Peripheral vitreous opacities HP:0007710 Band-shaped corneal dystrophy HP:0007709 Absent inner eyelashes HP:0007708 Congenital primary aphakia HP:0007707 Corneal degeneration HP:0007705 Paroxysmal involuntary eye movements HP:0007704 Abnormal eye movements, paroxysmal HP:0007704 Retinal pigmentary anomaly HP:0007703 Abnormality of the retinal pigment epithelium HP:0007703 Abnormality of retinal pigmentation HP:0007703 Abnormal retinal pigmentation HP:0007703 Retinal pigment clumping HP:0007702 Pigmentary retinal deposits HP:0007702 Anterior segment ocular dysgenesis HP:0007700 Anterior segment mesencyhmal dysgenesis HP:0007700 Anterior segment dysgenesis HP:0007700 Adrenocortical adenomas HP:0008256 Adrenocortical adenoma HP:0008256 Transient neonatal diabetes mellitus HP:0008255 Congenital goiter HP:0008251 Infantile hypercalcemia HP:0008250 Thyroid hyperplasia HP:0008249 Euthyroid hyperthyroxinemia HP:0008247 Asymptomatic hyperthyroxinemia HP:0008247 Thyrotropin deficiency HP:0008245 Thyroid stimulating hormone deficiency HP:0008245 TSH deficient hypothyroidism HP:0008245 Secondary hypothyroidism HP:0008245 Pituitary hypothyroidism HP:0008245 Congenital adrenal hypoplasia HP:0008244 Congenital adrenal gland hypoplasia HP:0008244 Pseudohypoaldosteronism HP:0008242 Secondary growth hormone deficiency HP:0008240 Adrenal medullary hypoplasia HP:0008239 Tertiary hypothyroidism HP:0008237 Hypothalamic hypothyroidism HP:0008237 Isosexual precocious puberty HP:0008236 Decreased serum progesterone HP:0008233 Increased circulating follicle stimulating hormone level HP:0008232 Elevated plasma follicle stimulating hormone HP:0008232 Elevated follicle-stimulating hormone HP:0008232 Elevated follicle stimulating hormone HP:0008232 Macronodular adrenal hyperplasia HP:0008231 Decreased testosterone in males HP:0008230 Thyroid lymphangiectasis HP:0008229 Thyroid lymphangiectasia HP:0008229 Pituitary resistance to thyroid hormone HP:0008227 Hypoandrogenism HP:0008226 Androgen insufficiency HP:0008226 Thyroid follicular hyperplasia HP:0008225 Compensated hypothyroidism HP:0008223 Female infertility HP:0008222 Enlarged adrenal glands HP:0008221 Adrenal hyperplasia HP:0008221 Hypocortisolism HP:0008220 Hypocortisolemia HP:0008220 Glucocorticoid insufficiency HP:0008220 Decreased cortisol production HP:0008220 Dysplastic adrenal glands HP:0008216 Adrenal gland dysplasia HP:0008216 Adrenal gland dysgenesis HP:0008216 Decreased serum estradiol HP:0008214 Pituitary gonadotropin deficiency HP:0008213 Gonadotropin deficiency HP:0008213 Parathyroid aplasia HP:0008211 Parathyroid agenesis HP:0008211 Parathyroid absence HP:0008211 Premature ovarian failure HP:0008209 Parathyroid hyperplasia HP:0008208 Primary adrenocortical failure HP:0008207 Anterior chamber mesodermal anomalies HP:0007700 Anterior chamber malformation HP:0007700 Anterior chamber cleavage disorder HP:0007700 Anterior chamber cleavage defect HP:0007700 obsolete Retinal pigment epithelial atrophy HP:0007698 Hypoplasia of the lower eyelids HP:0007697 Abnormal pupillary light reflex HP:0007695 Nonnuclear polymorphic congenital cataract HP:0007692 obsolete Short curly eyelashes HP:0007691 Map-dot-fingerprint corneal dystrophy HP:0007690 Undetectable light- and dark-adapted electroretinogram HP:0007688 Absent rod-and cone-mediated responses on ERG HP:0007688 Absent cone and rod functions by electroretinogram (ERG) HP:0007688 Absent cone and rod functions by electroretinogram HP:0007688 Unilateral ptosis HP:0007687 Abnormal pupillary function HP:0007686 Peripheral retinal avascularization HP:0007685 Depigmented fundus HP:0007680 Nasolacrimal duct stenosis HP:0007678 Lacrimal duct stenosis HP:0007678 Vitelliform-like macular lesions HP:0007677 Vitelliform macular lesions HP:0007677 Vitelliform macular dystrophy HP:0007677 Iris hypoplasia HP:0007676 Hypoplastic iris HP:0007676 Hypoplasia of the iris HP:0007676 Hyperkeratosis, diffuse palmoplantar HP:0007447 Diffuse palmoplantar hyperkeratosis HP:0007447 Palmoplantar blistering HP:0007446 Partial albinism HP:0007443 Congenital partial albinism on face, trunk, or limbs HP:0007443 Congenital partial albinism (leucoderma) on face, trunk, or limbs HP:0007443 Hyperpigmented/hypopigmented macules HP:0007441 Generalized hyperpigmentation HP:0007440 Generalized keratosis follicularis HP:0007439 Mottled pigmentation of the trunk and proximal extremities HP:0007438 Multiple cutaneous leiomyomas HP:0007437 Hair-nail ectodermal dysplasia HP:0007436 Diffuse palmoplantar keratoderma HP:0007435 Plaque-like facial hemangioma HP:0007434 Hemangioma, facial, plaque-like HP:0007434 Intermittent generalized erythematous papular rash HP:0007432 Ichthyosis, congenital HP:0007431 Congenital ichthyosis HP:0007431 Congenital ichthyosiform erythroderma HP:0007431 Generalized tissue edema HP:0007430 Generalized edema HP:0007430 Few cafe-au-lait spots HP:0007429 Telangiectasia of the oral mucosa HP:0007428 Reticulated skin pigmentation HP:0007427 Reticulate skin pigmentation HP:0007427 Reticular pigmentation pattern HP:0007427 Hyperextensible skin of face HP:0007425 Telangiectasia on the cheeks HP:0007421 Telangiectases of the cheeks HP:0007421 Spontaneous hematomas HP:0007420 Total alopecia HP:0007418 Alopecia totalis HP:0007418 Discoid lupus erythematosus HP:0007417 Neonatal wrinkled skin of hands and feet HP:0007414 Nevus flammeus of the forehead HP:0007413 Macular hyperpigmented dermopathy HP:0007412 Hypoplastic-absent sebaceous glands HP:0007411 Palmoplantar hyperhidrosis HP:0007410 Hyperhidrosis of palms and soles HP:0007410 Absence of subcutaneous fat over entire body except buttocks, hips, and thighs HP:0007409 Tegumentary leishmaniasis susceptibility HP:0007408 Excessive skin wrinkling on dorsum of hands and fingers HP:0007407 Hyperpigmentation of eyelids HP:0007406 Nonepidermolytic palmoplantar keratoderma HP:0007404 Hypertrophy of skin of soles HP:0007403 Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines HP:0007402 Macular atrophy HP:0007401 Irregular hyperpigmentation HP:0007400 Asymmetric, linear skin defects HP:0007398 Axillary apocrine gland hypoplasia HP:0007397 Early cutaneous photosensitivity HP:0007396 Postnatal-onset ichthyosis HP:0007395 Postnatal-onset ichthyosiform erythroderma HP:0007395 Prominent superficial vasculature HP:0007394 Prominent superficial blood vessels HP:0007394 Excessive wrinkled skin HP:0007392 Hyperkeratosis with erythema HP:0007390 Hypoplastic sweat glands HP:0007387 solitary scalp defect HP:0007385 focal absence of scalp tissue HP:0007385 aplasia cutis congenita (ACC) HP:0007385 Scalp defect HP:0007385 Scalp aplasia cutis congenita HP:0007385 Defect of scalp HP:0007385 Aplasia cutis congenita of scalp HP:0007385 Aberrant melanosome maturation HP:0007384 Congenital localized skin absence HP:0007383 Congenital localized absence of skin HP:0007383 Congenital exfoliative erythroderma HP:0007381 Telangiectasia, facial HP:0007380 Facial telangiectatic vessels HP:0007380 Facial telangiectasia HP:0007380 Neoplasm of the genitourinary tract HP:0007379 Genitourinary tract tumors HP:0007379 Genitourinary tract neoplasm HP:0007379 Genitourinary tract neoplasia HP:0007379 Neoplasm of the gastrointestinal tract HP:0007378 Gastrointestinal tract tumor HP:0007378 Gastrointestinal tract neoplasm HP:0007378 Gastrointestinal tract neoplasia HP:0007378 Abnormality of somatosensory evoked potentials HP:0007377 Abnormality of SSEPs HP:0007377 Abnormality of the choroid plexus HP:0007376 Abnormality of the septum pellucidum HP:0007375 Atrophy/Degeneration involving the caudate nucleus HP:0007374 Motor neuron atrophy HP:0007373 Atrophy/Degeneration involving the corticospinal tracts HP:0007372 Corpus callosum atrophy HP:0007371 Atrophy/Degeneration of the corpus callosum HP:0007371 Atrophy of the corpus callosum HP:0007371 Atrophic corpus callosum HP:0007371 Hypoplastic or absent corpus callosum HP:0007370 Hypoplasia or absence of the corpus callosum HP:0007370 Aplasia/Hypoplasia of the corpus callosum HP:0007370 Agenesis/hypoplasic corpus collosum HP:0007370 Absent/hypoplastic corpus callosum HP:0007370 Atrophy/Degeneration affecting the cerebrum HP:0007369 Atrophy/Degeneration affecting the central nervous system HP:0007367 Atrophy/Degeneration affecting the brainstem HP:0007366 Aplasia/Hypoplasia involving the corticospinal tracts HP:0007365 Aplasia/Hypoplasia of the cerebrum HP:0007364 Aplasia/Hypoplasia of the pyramidal tract HP:0007363 Aplasia/Hypoplasia of the brainstem HP:0007362 Abnormality of the pons HP:0007361 Cerebellar hypoplasia/atrophy HP:0007360 Atrophy/Hypoplasia of the cerebellum HP:0007360 Atrophy/Degeneration affecting the cerebellum HP:0007360 Aplasia/Hypoplasia of the cerebellum HP:0007360 Partial seizures HP:0007359 Focal seizures HP:0007359 Amyotrophic lateral sclerosis HP:0007354 Cerebellar calcifications HP:0007352 Upper limb postural tremor HP:0007351 Postural tremor of arms HP:0007351 Hyperreflexia in upper limbs HP:0007350 Hypoplasia of the pyramidal tract HP:0007348 Subcortical white matter calcifications HP:0007346 Atrophy/Degeneration involving the spinal cord HP:0007344 Atrophic and degenerative changes in the spinal cord HP:0007344 Limbic malformations HP:0007343 Diffuse swelling of cerebral white matter HP:0007341 Muscle weakness in lower limbs HP:0007340 Lower limb weakness HP:0007340 Lower limb muscle weakness HP:0007340 Lower extremity weakness HP:0007340 Leg weakness HP:0007340 Hypermetric saccades HP:0007338 Recurrent encephalopathy HP:0007335 Recurrent cerebellar and extrapyramidal encephalopathy HP:0007335 Secondary generalized tonic-clonic seizures HP:0007334 Secondary generalized tonic clonic seizures HP:0007334 Partial seizures with secondary generalization HP:0007334 Bilateral convulsive seizures HP:0007334 Hypoplastic frontal lobes HP:0007333 Hypoplasia of the frontal lobes HP:0007333 Frontal lobe hypoplasia HP:0007333 Hemifacial seizures HP:0007332 Frontal encephalocele HP:0007330 Impaired pain sensation HP:0007328 Decreased pain sensation HP:0007328 Mixed demyelinating and axonal polyneuropathy HP:0007327 Progressive choreoathetosis HP:0007326 Generalized dystonia HP:0007325 Deep white matter hypodensities HP:0007321 Involuntary writhing movements HP:0007316 White matter neuronal heterotopia HP:0007314 Neuroaxonal degeneration in the brain HP:0007313 Cerebral degeneration HP:0007313 Short stepped shuffling gait HP:0007311 Extrapyramidal dyskinesia HP:0007308 Rapid neurologic deterioration HP:0007307 Demyelination in central white matter HP:0007305 CNS demyelination HP:0007305 Bipolar disorder HP:0007302 Bipolar affective disorder HP:0007302 Oromotor apraxia HP:0007301 Dysfunction of lateral corticospinal tracts HP:0007299 Chaotic rapid conjugate ocular movements HP:0007295 Anterior sacral meningocele HP:0007293 Posterior fossa cyst HP:0007291 Limb fasciculations HP:0007289 Limb fasciculation HP:0007289 Horizontal jerk nystagmus HP:0007286 Facial palsy secondary to cranial hyperostosis HP:0007285 Developmental stagnation HP:0007281 Developmental arrest HP:0007281 Acute infantile spinal muscular atrophy HP:0007280 Paucity of anterior horn motor neurons HP:0007277 Recurrent bacterial meningitis HP:0007274 Progressive psychomotor deterioration HP:0007272 Progressive mental and motor deterioration HP:0007272 Occipital myelomeningocele HP:0007271 Atypical absence seizures HP:0007270 Spinal muscular atrophy HP:0007269 Aprosencephaly HP:0007268 Chronic sural axonal neuropathy HP:0007267 Chronic axonal neuropathy HP:0007267 White matter dysmyelination/demyelination HP:0007266 Dysmyelination of the brain HP:0007266 Cerebral dysmyelination HP:0007266 Areas of dysmyelination on MRI HP:0007266 Absent mesencephalon HP:0007265 Spinocerebellar atrophy HP:0007263 Symmetric peripheral demyelination HP:0007262 Type II lissencephaly HP:0007260 Lissencephaly type II HP:0007260 Cobblestone lissencephaly HP:0007260 Severe demyelination of the white matter HP:0007258 Pyramidal tract signs HP:0007256 Pyramidal signs HP:0007256 Reduced amplitude of b-wave (ERG) HP:0007984 Electroretinogram: reduced b-wave amplitude HP:0007984 Electronegative electroretinogram HP:0007984 Electronegative ERG HP:0007984 obsolete Central tapetoretinal dystrophy HP:0007982 obsolete Concentric narrowing of visual field HP:0007981 Absent retinal pigment epithelium HP:0007980 Nystagmus, horizontal, gaze-evoked HP:0007979 Nystagmus, horizontal gaze-evoked HP:0007979 Gaze-evoked horizontal nystagmus HP:0007979 Cerulean cataract HP:0007976 Cataracts, congenital, cerulean HP:0007976 Hypometric horizontal saccades HP:0007975 Retinal dysplasia HP:0007973 Retinal dysgenesis HP:0007973 Lamellar cataract HP:0007971 Congenital lamellar cataracts HP:0007971 Congenital ptosis HP:0007970 Persistent hypertrophic primary vitreous HP:0007968 Persistent hyperplastic primary vitreous HP:0007968 Persistent hyperplasia of primary vitreous HP:0007968 Undetectable visual evoked potentials HP:0007965 Undetectable VEP HP:0007965 Non-detectable VEP HP:0007965 Absence of visual evoked potentials HP:0007965 Degenerative vitreoretinopathy HP:0007964 Pattern dystrophy of the retina HP:0007963 Speckled corneal dystrophy HP:0007962 Rarefaction of retinal pigmentation HP:0007961 Optic atrophy from cranial nerve compression HP:0007958 Reduction of corneal clarity HP:0007957 Corneal opacity HP:0007957 Corneal opacities HP:0007957 Corneal clouding HP:0007957 obsolete Bilateral choroid coloboma HP:0007956 Peripapillary chorioretinal atrophy HP:0007950 obsolete Progressive macular scarring HP:0007949 Dense posterior cortical cataract HP:0007948 Pericentral retinitis pigmentosa HP:0007947 Unilateral narrow palpebral fissure HP:0007946 Narrow palpebral fissure, unilateral HP:0007946 obsolete Choroidal degeneration HP:0007945 Intermittent microsaccadic pursuits HP:0007944 Congenital stapes ankylosis HP:0007943 Internal ophthalmoplegia HP:0007942 Limited extraocular movements HP:0007941 Limited extraocular movement HP:0007941 S-cone monochromacy HP:0007939 Blue cone monochromatism HP:0007939 Blue cone monochromacy HP:0007939 Reticular pigmentary degeneration HP:0007937 Honeycomb retinal degeneration HP:0007937 Fishnet retinal pigmentation HP:0007937 Restrictive ophthalmoplegia HP:0007936 Restrictive external opthalmoplegia, bilateral HP:0007936 Restrictive external ophthalmoplegia HP:0007936 Juvenile posterior subcapsular lenticular opacities HP:0007935 Broad lateral eyebrow HP:0007933 Bilateral congenital mydriasis HP:0007932 Prominent epicanthal folds HP:0007930 Peripheral retinal detachment HP:0007929 Abnormal flash visual evoked potentials HP:0007928 Lacrimal duct aplasia HP:0007925 Subacute deterioration of visual acuity HP:0007924 Slow decrease in visual acuity HP:0007924 Decreased visual acuity, slowly progressive HP:0007924 obsolete Foveal hyperplasia HP:0007923 Retinal striation HP:0007922 Hypermyelinated retinal nerve fibers HP:0007922 obsolete Congenital chorioretinal dystrophy HP:0007920 Tractional retinal detachment HP:0007917 obsolete Small anterior lens surface opacities HP:0007916 Polymorphous posterior corneal dystrophy HP:0007915 Reticular retinal dystrophy HP:0007913 Ptosis, congenital bilateral HP:0007911 Ptosis, bilateral congenital HP:0007911 Congenital bilateral ptosis HP:0007911 obsolete Nonprogressive congenital retinal dystrophy HP:0007910 Retinal dystrophy, congenital, nonprogressive HP:0007910 Increased intraocular pressure HP:0007906 Abnormal iris vasculature HP:0007905 Paravenous chorioretinal atrophy HP:0007903 Vitreous hemorrhage HP:0007902 Vitreous haemorrhage HP:0007902 obsolete Retinal malformation HP:0007901 Retinal malformations HP:0007901 Hypoplastic lacrimal duct HP:0007900 Retinal nonattachment HP:0007899 Congenital retinal non-attachment HP:0007899 Exudative retinopathy HP:0007898 Retinal hypopigmentation HP:0007894 Corticospinal signs HP:0007256 Abnormal pyramidal signs HP:0007256 Recurrent external ophthalmoplegia HP:0007250 Decreased number of small peripheral myelinated nerve fibers HP:0007249 Progressive gait ataxia HP:0007240 Gait ataxia, progressive HP:0007240 Congenital encephalopathy HP:0007239 Nonarteriosclerotic cerebral calcification HP:0007238 Cerebral calcification, nonarteriosclerotic HP:0007238 Recurrent subcortical infarcts HP:0007236 Clusters of axonal regeneration HP:0007233 Spinocerebellar tract disease in lower limbs HP:0007232 Decreased distal sensory nerve action potential HP:0007230 Intracerebral periventricular calcifications HP:0007229 Macrogyria HP:0007227 Progressive truncal ataxia HP:0007221 Demyelinating motor neuropathy HP:0007220 Periodic hyperkalemic paralysis HP:0007215 Hyperkalemic periodic paralysis HP:0007215 Lower limb amyotrophy HP:0007210 Facial paralysis HP:0007209 Irregular myelin loops HP:0007208 Seizures, tonic-clonic, photosensitive HP:0007207 Photosensitive tonic-clonic seizures HP:0007207 Hemimegalencephaly HP:0007206 Diffuse white matter abnormalities HP:0007204 Flared, irregular rib ends HP:0006603 Progressive calcification of costochondral cartilage HP:0006600 Medial widening of clavicles HP:0006599 Irregular ossification at anterior rib ends HP:0006598 Diaphragmatic paralysis HP:0006597 Restricted chest movement HP:0006596 Synostosis of shoulder joint HP:0006595 Scapulohumeral synostosis HP:0006595 Humeroscapular synostosis HP:0006595 Humero-scapulo synostosis HP:0006595 Anomalous rib insertion to vertebrae HP:0006593 Aplasia of the glenoid fossa HP:0006591 Absent glenoid fossa HP:0006591 Prematurely closed sternal sutures HP:0006590 Premature sternal synostosis HP:0006590 Flaring of lower rib cage HP:0006589 Straight clavicles HP:0006587 Pseudoarthrosis of clavicle HP:0006585 Congenital pseudoarthrosis of the clavicle HP:0006585 Clavicle pseudoarthrosis HP:0006585 Bipartite clavicle HP:0006585 Small abnormally formed scapulae HP:0006584 Small abnormally formed scapula HP:0006584 Fatal liver failure in infancy HP:0006583 Reye syndrome-like episodes HP:0006582 Depletion of mitochondrial DNA in liver HP:0006581 Portal fibrosis shown on biopsy HP:0006580 Portal fibrosis HP:0006580 Prolonged neonatal jaundice HP:0006579 Neonatal jaundice HP:0006579 Jaundice, neonatal HP:0006579 Macronodular cirrhosis HP:0006577 Hepatic vascular malformations HP:0006576 Intrahepatic cholestasis with episodic jaundice HP:0006575 Liver arteriovenous malformation HP:0006574 Hepatic arteriovenous malformation HP:0006574 Acute hepatic steatosis HP:0006573 Subacute progressive viral hepatitis HP:0006572 Reduced number of intrahepatic bile ducts HP:0006571 Intrahepatic duct deficiency HP:0006571 Hepatic ductopenia HP:0006571 Increased liver glycogen content HP:0006568 Increased hepatic glycogen content HP:0006568 Neonatal cholestatic liver disease HP:0006566 Increased hepatocellular lipid droplets HP:0006565 Fluctuating hepatomegaly HP:0006564 Malformation of the hepatic ductal plate HP:0006563 Viral hepatitis HP:0006562 Lipid accumulation in hepatocytes HP:0006561 Biliary hyperplasia HP:0006560 Bile duct hyperplasia HP:0006560 Liver calcifications HP:0006559 Hepatic calcification HP:0006559 Decreased mitochondrial complex III activity in liver tissue HP:0006558 Polycystic liver disease HP:0006557 Hepatic steatosis, diffuse HP:0006555 Diffuse hepatic steatosis HP:0006555 Acute liver failure HP:0006554 Acute hepatic failure HP:0006554 Fibrocystic lung disease HP:0006552 Unilateral primary pulmonary dysgenesis HP:0006549 Primary pulmonary dysgenesis, unilateral HP:0006549 Pulmonary av malformation HP:0006548 Pulmonary arteriovenous malformation (PAVM), especially lower lobes HP:0006548 Pulmonary arteriovenous malformation HP:0006548 Extrapulmonary sequestrum HP:0006544 Diaphragmatic sequestrum HP:0006544 Cardiorespiratory arrest HP:0006543 Chronic obstructive airway disease from birth HP:0006541 Bronchial cartilage hypoplasia HP:0006539 Recurrent bronchopulmonary infections HP:0006538 Obstructive lung disease HP:0006536 Recurrent intrapulmonary hemorrhage HP:0006535 Bronchodysplasia HP:0006533 pulmonary infections, recurrent HP:0006532 Recurrent pulmonary infections HP:0006532 Recurrent pneumonia HP:0006532 Pulmonary infections HP:0006532 Pulmonary infection HP:0006532 Pneumonia, recurrent episodes HP:0006532 Pneumonia, recurrent HP:0006532 Multiple pulmonary infections HP:0006532 Pleural lymphangiectasia HP:0006531 Interstitial pulmonary disease HP:0006530 Interstitial lung disease HP:0006530 Abnormal pulmonary lymphatics HP:0006529 Chronic lung disease HP:0006528 Lymphoid interstitial pneumonitis HP:0006527 Lymphoid interstitial pneumonia HP:0006527 Lung segmentation defects HP:0006525 Tracheobronchial leiomyomatosis HP:0006524 Repeated pneumothoraces HP:0006522 Pulmonary lymphangiectasis HP:0006521 Pulmonary lymphangiectasia HP:0006521 Progressive pulmonary function impairment HP:0006520 Alveolar cell carcinoma HP:0006519 Pulmonary venoocclusive disease HP:0006518 Alveolar proteinosis HP:0006517 Hypersensitivity pneumonitis HP:0006516 Interstitial pneumonitis HP:0006515 Intraalveolar nodular calcifications HP:0006514 Laryngeal stridor HP:0006511 Laryngeal stidor HP:0006511 Chronic obstructive pulmonary disease HP:0006510 Diverticulosis of trachea HP:0006509 Abnormality of tibial epiphyses HP:0006508 Aplasia/hypoplasia of the humerus HP:0006507 Abnormality of limb epiphysis morphology HP:0006505 Abnormality involving the epiphyses of the limbs HP:0006505 Anomaly of the limb diaphyses HP:0006504 Abnormality involving the diaphyses of the limbs HP:0006504 Aplasia/hypoplasia involving forearm bones HP:0006503 Aplasia/Hypoplasia involving the carpal bones HP:0006502 Radial aplasia/hypoplasia HP:0006501 Aplasia/Hypoplasia of the radius HP:0006501 Abnormality of lower limb epiphysis morphology HP:0006500 Abnormality involving the epiphyses of the lower limbs HP:0006500 Abnormality of femoral epiphysis HP:0006499 Small to absent patellae HP:0006498 Patellar aplasia/hypoplasia HP:0006498 Hypoplastic or absent patella HP:0006498 Aplastic or hypoplastic patellae HP:0006498 Aplasia/Hypoplasia of the patella HP:0006498 Absent/hypoplastic patella HP:0006498 Absent or hypoplastic patellae HP:0006498 Aplasia/hypoplasia involving bones of the upper limbs HP:0006496 ulnar hypoplasia/aplasia HP:0006495 Hypoplasia or unilateral/bilateral absence of ulna HP:0006495 Aplasia/Hypoplasia of the ulna HP:0006495 Absent-hypoplastic ulnae HP:0006495 Aplasia/Hypoplasia involving bones of the feet HP:0006494 Aplasia/hypoplasia involving bones of the lower limbs HP:0006493 Hypoplastic/aplastic fibulae HP:0006492 Fibular aplasia/hypoplasia HP:0006492 Aplasia/Hypoplasia of the fibula HP:0006492 Abnormality of the tibial metaphysis HP:0006491 Abnormality of lower-limb metaphyses HP:0006490 Abnormality of the femoral metaphysis HP:0006489 Bowing of the arm HP:0006488 Diaphyseal bowing of long bones HP:0006487 Diaphyseal bowing HP:0006487 Camptomelia HP:0006487 Bowing of the long bones HP:0006487 Bowing of long bones HP:0006487 Bowed long bones HP:0006487 Abnormality of the dental root HP:0006486 Missing incisors HP:0006485 Agenesis of incisor HP:0006485 Absence of incisors HP:0006485 Abnormal number of teeth HP:0006483 Misshapened teeth HP:0006482 Misshapen teeth HP:0006482 Malformed teeth HP:0006482 Abnormally shaped teeth HP:0006482 Abnormality of dental morphology HP:0006482 Abnormality of primary teeth HP:0006481 Abnormality of deciduous teeth HP:0006481 Premature tooth loss HP:0006480 Premature teeth loss HP:0006480 Premature loss of teeth HP:0006480 Loss of teeth HP:0006480 Early tooth loss HP:0006480 Abnormality of the dental pulp HP:0006479 Defect in alveolar ridge HP:0006477 Abnormality of the alveolar ridges HP:0006477 Abnormality of the pancreatic islet cells HP:0006476 Anterior bowing of long bones HP:0006473 Fixed elbow flexion HP:0006471 Thin long bone diaphyses HP:0006470 Thin diaphyses of long bones HP:0006470 Limited shoulder movement HP:0006467 Contractures of the ankles HP:0006466 Ankle contractures HP:0006466 Ankle contracture HP:0006466 Periosteal thickening of long tubular bones HP:0006465 Rickets of the lower limbs HP:0006463 Generalized bone demineralization HP:0006462 Slipped capital femoral epiphyses HP:0006461 Slipped capilal femoral epiphysis HP:0006461 Proximal femoral epiphysiolysis HP:0006461 Increased laxity of ankles HP:0006460 Dorsal subluxation of ulna HP:0006459 Irregular proximal tibial epiphyses HP:0006456 Delayed patellar ossification HP:0006454 Delayed patellae ossification HP:0006454 Laterally displaced femoral heads HP:0006453 Lateral displacement of the femoral head HP:0006453 Multicentric ossification of proximal femoral epiphyses HP:0006450 Distal radial epiphyseal osteolysis HP:0006449 Dysplastic patella HP:0006446 Abnormality of chorioretinal pigmentation HP:0007661 obsolete Decreased retinal pigmentation with dispersion HP:0007659 Large hyperpigmented retinal spots HP:0007658 Diffuse nuclear cataract HP:0007657 Lacrimal gland aplasia HP:0007656 Eversion of lateral third of lower eyelids HP:0007655 obsolete Retinal striation HP:0007654 Everted lower eyelids HP:0007651 Ectropion of lower eyelids HP:0007651 Progressive ophthalmoplegia HP:0007650 Congenital hypertrophy of retinal pigment epithelium HP:0007649 Punctate lenticular opacities HP:0007648 Punctate cataract HP:0007648 Congenital extraocular muscle anomaly HP:0007647 Absent lower eyelashes HP:0007646 Peripheral traction retinal detachment HP:0007643 Static congenital hemeralopia HP:0007642 Night blindness, stationary HP:0007642 Night blindness, congenital stationary, complete HP:0007642 Night blindness, congenital stationary HP:0007642 Night blindness, congenital HP:0007642 Congenital stationary night blindness HP:0007642 Congenital night blindness HP:0007642 Dyschromatopsia HP:0007641 Colorblindness HP:0007641 Nonarteritic anterior ischemic optic neuropathy HP:0007634 Microphthalmia, bilateral HP:0007633 Bilateral microphthalmos HP:0007633 Mandibular condyle hypoplasia HP:0007628 Mandibular condyle aplasia HP:0007627 Osteomyelitis, especially of the mandible HP:0007626 Mandibular osteomyelitis HP:0007626 Pigmentation anomalies of sun-exposed skin HP:0007623 Telangiectasia of extensor surfaces HP:0007621 Cutaneous leiomyomata HP:0007620 Cutaneous leiomyomas HP:0007620 Cutaneous leiomyoma HP:0007620 Subcutaneous calcification HP:0007618 Fine, reticulate skin pigmentation HP:0007617 Nevus flammeus nuchae HP:0007616 Spinous keratoses of palms and soles HP:0007613 Blotching pigmentation of the skin HP:0007610 Hypoproteinemic edema HP:0007609 Abnormal palmar dermal ridges HP:0007608 Hypohidrotic ectodermal dysplasia HP:0007607 Multiple cutaneous malignancies HP:0007606 Redundant, wrinkled skin of palms HP:0007605 Excessive wrinkling of palmar skin HP:0007605 Freckles in sun-exposed areas HP:0007603 Complex palmar dermatoglyphic pattern HP:0007602 Midline facial capillary hemangioma HP:0007601 Generalized reticulate brown pigmentation HP:0007599 Bilateral single transverse palmar creases HP:0007598 Congenital palmoplantar keratodermia HP:0007597 Painful subcutaneous lipomas HP:0007596 Redundant skin in infancy HP:0007595 Hypoplastic-absent eccrine sweat glands HP:0007592 Aplasia/Hypoplastia of the eccrine sweat glands HP:0007592 Aplasia cutis congenita over posterior parietal area HP:0007590 Aplasia cutis congenita on trunk or limbs HP:0007589 Reticulate hyperpigmentation HP:0007588 Reticular hyperpigmentation HP:0007588 Numerous pigmented freckles HP:0007587 Telangiectases producing 'marbled' skin HP:0007586 Skin fragility with non-scarring blistering HP:0007585 Telangiectasia macularis eruptiva perstans HP:0007583 Mediosternal, longitudinal streak of hypopigmentation HP:0007581 Palmar neurofibromas HP:0007576 Generalized bronze hyperpigmentation HP:0007574 Late onset atopic dermatitis HP:0007573 Hyperpigmented streaks HP:0007572 Hyperkeratosis lenticularis perstans HP:0007570 Flegel disease HP:0007570 Generalized seborrheic dermatitis HP:0007569 Index finger dermatoglyphic radial loop HP:0007566 Multiple cafe-au-lait spots HP:0007565 Telangiectases in sun-exposed and nonexposed skin HP:0007561 Unusual dermatoglyphics HP:0007560 Localized epidermolytic hyperkeratosis HP:0007559 Plantar hyperkeratosis HP:0007556 Plantar hyperkeratoses HP:0007556 Confetti hypopigmentation pattern of lower leg skin HP:0007554 Congenital symmetrical palmoplantar keratosis HP:0007553 Abnormal subcutaneous fat tissue distribution HP:0007552 Hypohidrosis or hyperhidrosis HP:0007550 Desquamation of skin soon after birth HP:0007549 Palmoplantar keratosis with erythema and scale HP:0007548 Linear hyperpigmentation HP:0007546 Congenital palmoplantar keratosis HP:0007545 Piebaldism HP:0007544 Epidermal hyperkeratosis HP:0007543 Absent pigmentation of the ventral chest HP:0007542 Frontal cutaneous lipoma HP:0007541 Severe photosensitivity HP:0007537 Aplasia cutis congenita of midline scalp vertex HP:0007536 Hypopigmented streaks HP:0007535 Congenital posterior occipital alopecia HP:0007534 Punctate palmoplantar hyperkeratosis HP:0007530 Hidrotic ectodermal dysplasia HP:0007529 Hypopigmented skin patches on arms HP:0007526 Yellow subcutaneous tissue covered by thin, scaly skin HP:0007525 Atypical neurofibromatosis HP:0007524 Increased number of skin folds HP:0007522 Irregular hyperpigmentation of back HP:0007521 Lack of subcutaneous fatty tissue HP:0007519 Wrinkled skin of hands and feet HP:0007517 Wrinkled palms and soles HP:0007517 Palmoplantar cutis laxa HP:0007517 Increased wrinkles of palms and soles HP:0007517 Furrowed palms and soles HP:0007517 Excessive wrinkled skin (palms and soles) HP:0007517 Redundant skin on fingers HP:0007516 Hypoplastic pilosebaceous units HP:0007515 Edema of the dorsum of hands HP:0007514 Edema of dorsum of hands and feet HP:0007514 Pale pigmentation HP:0007513 Generalized hypopigmentation HP:0007513 Fair skin HP:0007513 Mottled pigmentation of photoexposed areas HP:0007511 Focal dermal aplasia/hypoplasia HP:0007510 Patchy hypo- and hyperpigmentation HP:0007509 Patchy hypo- and hyper-pigmentation HP:0007509 Punctate palmar and solar hyperkeratosis HP:0007508 Congenital absence of skin of limbs HP:0007506 Progressive hyperpigmentation HP:0007505 Diffuse slow skin atrophy HP:0007504 Generalized ichthyosis HP:0007503 Hyperkeratosis follicularis HP:0007502 Follicular hyperkeratosis HP:0007502 Streaks of hyperkeratosis along each finger onto the palm HP:0007501 Decreased sweat pores HP:0007500 Decreased sweat glands HP:0007500 Decreased number of sweat glands HP:0007500 Recurrent staphylococcal infections HP:0007499 Hyperkeratosis, palmoplantar, focal friction-related HP:0007497 Focal friction-related palmoplantar hyperkeratosis HP:0007497 Prematurely aged appearance HP:0007495 Precociously senile appearance HP:0007495 Discrete 2 to 5-mm hyper- and hypopigmented macules HP:0007494 Linear arrays of macular hyperkeratoses in flexural areas HP:0007490 Telangiectases, random body distribution HP:0007489 Diffuse telangiectasia HP:0007489 Diffuse telangiectases HP:0007489 Diffuse skin atrophy HP:0007488 Cavernous hemangioma of the face HP:0007486 General absence of subcutaneous fat HP:0007485 Absence of subcutaneous fat HP:0007485 Depigmentation/hyperpigmentation of skin HP:0007483 Generalized papillary lesions HP:0007482 Hyperpigmented nevi HP:0007481 Decreased sweating due to autonomic dysfunction HP:0007480 Nonbullous congenital ichthyosis HP:0007479 Nonbullous congenital ichthyosiform erythroderma HP:0007479 Ichthyosis, congenital, nonblistering HP:0007479 Ichthyosis lammellaris HP:0007479 Congenital nonbullous ichthyosiform erythroderma HP:0007479 Congenital non-bullous ichthyosis HP:0007479 Congenital lamellar ichthyosis HP:0007479 Collodion baby HP:0007479 Dermatoglyphic abnormalities HP:0007477 Abnormal dermatoglyphics HP:0007477 Anhidrotic ectodermal dysplasia HP:0007476 Epidermolytic hyperkeratosis HP:0007475 Congenital bullous ichthyosiform erythroderma HP:0007475 Bullous congenital ichthyosiform erythroderma HP:0007475 Crusting erythematous dermatitis HP:0007473 Axillary and groin hyperpigmentation and hypopigmentation HP:0007471 Periarticular subcutaneous nodules HP:0007470 Palmoplantar cutis gyrata HP:0007469 Cutis gyrata of palms and soles HP:0007469 Perifollicular hyperkeratosis HP:0007468 Midfrontal capillary hemangioma HP:0007466 Honeycomb palmoplantar keratoderma HP:0007465 Sparse facial hair HP:0007464 Bitot's spots HP:0007462 Bitot spots of the conjunctiva HP:0007462 Hemangiomatosis HP:0007461 Autoamputation of digits HP:0007460 Generalized anhidrosis HP:0007459 Focal hyperextensible skin HP:0007458 Prominent veins on trunk HP:0007457 Progressive reticulate hyperpigmentation HP:0007456 Adermatoglyphia HP:0007455 Flexural lichenification HP:0007453 Midfacial capillary hemangioma HP:0007452 Midface capillary hemangioma HP:0007452 Ipsilateral lack of facial sweating HP:0007451 Increased groin pigmentation with raindrop depigmentation HP:0007450 Confetti-like hypopigmented macules HP:0007449 Hyperkeratosis over edematous areas HP:0007448 Patellar aplasia HP:0006443 Aplastic patellae HP:0006443 Absent patellas HP:0006443 Absent patellae HP:0006443 Absent patella HP:0006443 Hypoplasia of proximal fibula HP:0006442 Lateral humeral condyle aplasia HP:0006441 Increased density of long bone diaphyses HP:0006440 Radioulnar dislocation HP:0006439 Dislocated radioulnar joints HP:0006439 Large distal femoral epiphyses HP:0006438 Enlargement of the distal femoral epiphysis HP:0006438 Disproportionate prominence of the femoral medial condyle HP:0006437 Shortening of the tibia HP:0006436 Marked shortening of tibia HP:0006436 Proximal radial shortening HP:0006434 Hypoplasia of proximal radius HP:0006434 Dysplastic radii HP:0006433 Trapezoidal distal femoral condyles HP:0006432 Proximal femoral metaphyseal abnormality HP:0006431 Widened femoral necks HP:0006429 Wide femoral neck HP:0006429 Broadening of femoral neck HP:0006429 Broad femoral neck HP:0006429 Rudimentary to absent tibiae HP:0006426 Elongated radius HP:0006424 Crescent/chevron-shaped pulp chambers HP:0006350 Missing teeth HP:0006349 Agenesis of permanent teeth HP:0006349 Absent permanent teeth HP:0006349 Absence of permanent teeth HP:0006349 Small deciduous teeth HP:0006347 Microdontia of primary teeth HP:0006347 Screwdriver-shaped incisors HP:0006346 Abnormality of primary molar morphology HP:0006344 Peg-shaped maxillary lateral incisors HP:0006342 Pointed mandibular incisors HP:0006339 Conical mandibular incisor HP:0006339 Malformation of mandibular premolar HP:0006338 Premature eruption of permanent teeth HP:0006337 Precocious eruption of secondary teeth HP:0006337 Advanced tooth eruption HP:0006337 Underdeveloped dental roots HP:0006336 Short dental roots HP:0006336 Retained deciduous teeth HP:0006335 Persistent primary teeth HP:0006335 Persistent primary dentition HP:0006335 Persistence of primary teeth HP:0006335 Persistence of deciduous teeth HP:0006335 Delayed loss of primary teeth HP:0006335 Deciduous teeth retention HP:0006335 Hypoplastic deciduous teeth HP:0006334 Hypoplasia of the primary teeth HP:0006334 Crowded upper incisors HP:0006333 Crowded maxillary incisors HP:0006333 Supernumerary maxillary incisor HP:0006332 Rotated maxillary central incisors HP:0006330 Hypoplastic alveolar bone HP:0006329 Alveolar process hypoplasia HP:0006329 Buried teeth encased in mucopolysaccharide HP:0006326 Premature loss of primary teeth HP:0006323 Premature loss of deciduous teeth HP:0006323 Premature deciduous tooth loss HP:0006323 Multiple non-erupting secondary teeth HP:0006321 Irregularly spaced teeth HP:0006316 Single median maxillary incisor HP:0006315 Single median maxillary central incisor HP:0006315 Single median incisor HP:0006315 Single maxillary central incisor HP:0006315 Single central upper incisor HP:0006315 Single central incisor HP:0006315 Widely spaced primary teeth HP:0006313 Widely spaced deciduous teeth HP:0006313 Generalized microdontia HP:0006311 Atrophy of alveolar ridges HP:0006308 Widely-spaced incisors HP:0006304 Dagger-shaped pulp calcifications HP:0006302 Prolonged bleeding after dental extraction HP:0006298 Thin dental enamel HP:0006297 Hypoplasia of dental enamel HP:0006297 Enamel hypoplasia HP:0006297 Enamel dysplasia HP:0006297 Dental enamel hypoplasia HP:0006297 Agenesis of maxillary central incisor HP:0006293 Abnormality of dental eruption HP:0006292 Abnormal dental eruption HP:0006292 Marked delay in eruption of permanent teeth HP:0006291 Discolored lateral incisors HP:0006290 Missing central incisors HP:0006289 Agenesis of central incisor HP:0006289 Absent central incisors HP:0006289 Absent central incisor HP:0006289 Premature tooth eruption HP:0006288 Premature eruption of teeth HP:0006288 Eruption, advanced HP:0006288 Advanced eruption of teeth HP:0006288 Yellow-brown discoloration of the teeth HP:0006286 Hypomineralization of enamel HP:0006285 Decreased enamel mineralisation HP:0006285 Multiple unerupted teeth HP:0006283 Generalized hypoplasia of dental enamel HP:0006282 Chronic pancreatitis HP:0006280 Beta-cell dysfunction HP:0006279 Ectopic pancreatic tissue HP:0006278 Pancreatic hyperplasia HP:0006277 Hyperechogenic pancreas HP:0006276 Reduced pancreatic beta cells HP:0006274 Pancreatic lymphangiectasis HP:0006273 Hypoplastic spleen HP:0006270 Fluctuating splenomegaly HP:0006268 Placental enlargement HP:0006267 Large placenta HP:0006267 Small placenta HP:0006266 Aplasia/Hypoplasia of fingers HP:0006265 Aplasia/Hypoplasia of the 2nd finger HP:0006264 Abnormality of the epiphyses of the 2nd finger HP:0006263 Aplasia/Hypoplasia of the 5th finger HP:0006262 Abnormality of the small joints of the hand HP:0006261 Abnormality of phalangeal joints of the hand HP:0006261 Abnormality of carpal bone ossification HP:0006257 Abnormality of hand joint mobility HP:0006256 Serum alpha-fetoprotein increased HP:0006254 Increased serum alpha-fetoprotein HP:0006254 Increased levels of alpha fetoprotein HP:0006254 Elevated alpha-fetoprotein HP:0006254 Alpha fetoprotein abnormal HP:0006254 Swelling of proximal interphalangeal joints HP:0006253 Interphalangeal joint erosions HP:0006252 Limited wrist extension HP:0006251 Limited wrist movement HP:0006248 Limited movement of the wrist HP:0006248 Enlarged interphalangeal joints HP:0006247 Phalangeal dislocation HP:0006243 Shortening of all middle phalanges of the toes HP:0006239 Brachymesophalangy of feet HP:0006239 Prominent interphalangeal joints HP:0006237 Slender metacarpals HP:0006236 Tarsal osteolysis HP:0006234 Tarsal bone osteolysis HP:0006234 Osteolysis involving tarsal bones HP:0006234 Osteoarthritis of the distal interphalangeal joint HP:0006233 Expanded metacarpals with widened medullary cavities HP:0006232 Unilateral oligodactyly HP:0006230 Valgus hand deformity HP:0006228 Osteoarthritis of the first carpometacarpal joint HP:0006226 Tapering pointed ends of distal finger phalanges HP:0006224 Limited mobility of proximal interphalangeal joint HP:0006217 Single interphalangeal crease of fifth finger HP:0006216 Fifth finger single interphalangeal crease HP:0006216 Thin proximal phalanges with broad epiphyses of the hand HP:0006213 Thin proximal phalanges with broad epiphyses HP:0006213 Postaxial oligodactyly HP:0006210 Partial-complete absence of 5th phalanges HP:0006209 Metaphyseal cupping of proximal phalanges HP:0006208 Partial fusion of carpals HP:0006207 Hypersegmentation of proximal phalanx of second finger HP:0006206 Irregular phalanges HP:0006205 Decreased movement range in interphalangeal joints HP:0006203 Osteolysis of scaphoids HP:0006202 Hypermobility of distal interphalangeal joints HP:0006201 Widened distal phalanges HP:0006200 Thimble-shaped middle phalanges of hand HP:0006193 Tapered phalanx of finger HP:0006192 Deep palmar creases HP:0006191 Deep palmar crease HP:0006191 Radially deviated wrists HP:0006190 Prominent interdigital folds HP:0006189 Fusion of midphalangeal joints HP:0006187 Enlarged proximal interphalangeal joints HP:0006185 Shallow palmar creases HP:0006184 Poorly formed palmar creases HP:0006184 Hypoplastic palmar creases HP:0006184 Decreased palmar creases HP:0006184 Crowded carpal bones HP:0006180 Pseudoepiphyses of second metacarpal HP:0006179 Two carpal ossification centers present at birth HP:0006176 Proximal phalangeal periosteal thickening HP:0006175 Metacarpal diaphyseal endosteal sclerosis HP:0006174 Flattened, squared-off epiphyses of tubular bones HP:0006172 Chess-pawn distal phalanges HP:0006170 Decreased mobility 3rd-5th fingers HP:0006169 Prominent proximal interphalangeal joints HP:0006167 Tubular metacarpal bones HP:0006166 Proportionate shortening of all digits HP:0006165 Enlarged metacarpophalangeal joints HP:0006163 Soft tissue swelling of interphalangeal joints HP:0006162 Short metacarpals with rounded proximal ends HP:0006161 Irregular metacarpals HP:0006160 Mesoaxial hand polydactyly HP:0006159 Interdigital polydactyly (hand) HP:0006159 Central polydactyly (hands) HP:0006159 obsolete Finger joint hyperextensibility HP:0006158 Prominent palmar flexion creases HP:0006157 Ulnar deviation of thumb HP:0006156 Ulnar deviation of the 1st finger HP:0006156 Long phalanx of finger HP:0006155 Disharmonious carpal bone HP:0006153 Proximal symphalangism (hands) HP:0006152 Proximal interphalangeal joint synostoses HP:0006152 Swan neck-like deformities of the fingers HP:0006150 Increased laxity of fingers HP:0006149 Progressive fusion 2nd-5th pip joints HP:0006147 Broad metacarpal epiphyses HP:0006146 Central Y-shaped metacarpal HP:0006145 Shortening of all proximal phalanges of the fingers HP:0006144 Abnormal finger flexion creases HP:0006143 Premature fusion of phalangeal epiphyses HP:0006140 Bilateral postaxial polydactyly HP:0006136 Decreased finger mobility HP:0006135 Enlarged metacarpal epiphyses HP:0006134 Drumstick terminal phalanges HP:0006129 Long proximal phalanx of finger HP:0006127 Acral ulceration leading to autoamputation of digits HP:0006121 Proximal tapering of metacarpals HP:0006119 Pointed proximal metacarpals HP:0006119 Shortening of all distal phalanges of the fingers HP:0006118 Progressive night blindness HP:0007675 Abnormal vestibuloocular reflex HP:0007670 Abnormal vestibulo-ocular reflex HP:0007670 Impaired pursuit initiation and maintenance HP:0007668 Cystic retinal degeneration HP:0007667 Curly eyelashes HP:0007665 Reduced visual acuity HP:0007663 Poor visual acuity HP:0007663 Decreased visual acuity HP:0007663 Decreased central vision HP:0007663 Central visual loss HP:0007663 Central blurring of vision HP:0007663 Cerebral artery atherosclerosis HP:0007201 Episodic hypersomnia HP:0007200 Progressive spastic paraparesis HP:0007199 Morning generalized tonic-clonic seizures HP:0007193 Generalized tonic-clonic seizures on awakening HP:0007193 Neuronal loss in the cerebral cortex HP:0007190 Congenital facial diplegia HP:0007188 Focal lissencephaly HP:0007187 Loss of consciousness HP:0007185 Hyperintense lesions in the basal ganglia on MRI HP:0007183 Focal T2 hyperintense basal ganglia lesion HP:0007183 Peripheral hypomyelination HP:0007182 Interosseus muscle atrophy HP:0007181 Interosseous muscular atrophy HP:0007181 Absent smooth pursuit HP:0007179 Peripheral motor neuropathy HP:0007178 Motor polyneuropathy HP:0007178 Paroxysmal dyskinesia HP:0007166 Involuntary dystonic or choreiform movements HP:0007166 Subependymal neuronal heterotopia HP:0007165 Subependymal gray matter heterotopia HP:0007165 Periventricular neuronal heterotopia HP:0007165 Periventricular gray matter heterotopia HP:0007165 Slowed slurred speech HP:0007164 obsolete Corticospinal tract disease in lower limbs HP:0007163 Diffuse demyelination of the cerebral white matter HP:0007162 Fluctuations in consciousness HP:0007159 Progressive extrapyramidal rigidity HP:0007158 Progressive extrapyramidal muscular rigidity HP:0007158 Asymmetric limb muscle stiffness HP:0007156 Progressive extrapyramidal movement disorder HP:0007153 Distal upper limb muscle atrophy HP:0007149 Distal upper limb amyotrophy HP:0007149 Bilateral basal ganglia lesions HP:0007146 Sensorimotor peripheral neuropathy HP:0007141 Sensorimotor neuropathy HP:0007141 Mixed polyneuropathy HP:0007141 Progressive polyneuropathy HP:0007133 Progressive peripheral neuropathy HP:0007133 Pallidal degeneration HP:0007132 Acute demyelinating polyneuropathy HP:0007131 Cerebellar medulloblastoma HP:0007129 Symmetrical, proximal limb muscle atrophy HP:0007126 Symmetric proximal muscular atrophy HP:0007126 Proximal muscle wasting HP:0007126 Proximal muscle atrophy HP:0007126 Proximal amyotrophy HP:0007126 Muscle atrophy, proximal HP:0007126 Subcortical dementia HP:0007123 Corticospinal tract atrophy HP:0007117 Orbital encephalocele HP:0007115 Temporal cortical atrophy HP:0007112 Chronic hepatic encephalopathy HP:0007111 Central hypoventilation HP:0007110 Periventricular cysts HP:0007109 Demyelinating peripheral neuropathy HP:0007108 Segmental peripheral demyelination HP:0007107 Infantile encephalopathy HP:0007105 Prolonged somatosensory evoked potentials HP:0007104 White matter hypointensities on MRI HP:0007103 Hypointensity of cerebral white matter on MRI HP:0007103 Progressive ventriculomegaly HP:0007100 Chiari I malformation HP:0007099 Arnold-Chiari type I malformation HP:0007099 Arnold Chiari type I malformation HP:0007099 Paroxysmal choreoathetosis HP:0007098 Choreoathetosis, intermittent HP:0007098 Choreoathetosis, episodic HP:0007098 Cranial nerve motor loss HP:0007097 Hypoplasia of the optic tract HP:0007096 Frontoparietal polymicrogyria HP:0007095 Facial-lingual fasciculations HP:0007089 Involuntary jerking movements HP:0007087 Social and occupational deterioration HP:0007086 Hyperreflexia in knees HP:0007083 Hyperactive patellar reflex HP:0007083 Brisk knee jerk HP:0007083 Dilated third ventricle HP:0007082 Late-onset muscular dystrophy HP:0007081 Decreased amplitude of sensory action potentials HP:0007078 Extrapyramidal muscular rigidity HP:0007076 Thick corpus callosum HP:0007074 Large corpus callosum HP:0007074 Abnormal size of corpus callosum HP:0007074 Profound static encephalopathy HP:0007069 Inferior vermis hypoplasia HP:0007068 Hypoplasia of inferior vermis HP:0007068 Peripheral sensory neuropathy, distal HP:0007067 Distal peripheral sensory neuropathy HP:0007067 Proximal limb muscle stiffness HP:0007066 Disorganization of the anterior cerebellar vermis HP:0007065 Progressive language deterioration HP:0007064 Aplasia of the inferior half of the cerebellar vermis HP:0007063 Generalized cerebral atrophy/hypoplasia HP:0007058 Poor hand-eye coordination HP:0007057 Hyperreflexia proximally HP:0007054 Multifocal cerebral white matter abnormalities HP:0007052 Large basal ganglia HP:0007048 Atrophy of the dentate nucleus HP:0007047 Midline brain calcifications HP:0007045 Focal white matter lesions HP:0007042 Chronic lymphocytic meningitis HP:0007041 Symmetric lesions of the basal ganglia HP:0007039 Hypoplasia of olfactory tract HP:0007036 Anterior encephalocele HP:0007035 Generalized hyperreflexia HP:0007034 Cerebellar dysplasia HP:0007033 Nonprogressive encephalopathy HP:0007030 Cerebral saccular aneurysm HP:0007029 Cerebral berry aneurysm HP:0007029 Poorly formed metencephalon HP:0007027 Pseudobulbar syndrome HP:0007024 Pseudobulbar paralysis HP:0007024 Pseudobulbar palsy HP:0007024 Antenatal intracerebral hemorrhage HP:0007023 Pain insensitivity HP:0007021 Absence of pain sensation HP:0007021 Progressive spastic paraplegia HP:0007020 Childhood attention deficit/hyperactivity disorder HP:0007018 Attention deficits HP:0007018 Attention deficit-hyperactivity disorder HP:0007018 Attention deficit hyperactivity disorder HP:0007018 Attention deficit disorder HP:0007018 Attention deficit HP:0007018 Progressive forgetfulness HP:0007017 Corticospinal tract hypoplasia HP:0007016 Poor gross motor coordination HP:0007015 Trochlear nerve palsy HP:0007011 Superior oblique palsy HP:0007011 Fourth cranial nerve palsy HP:0007011 Poor fine motor coordination HP:0007010 Central nervous system degeneration HP:0007009 Cavitation of the basal ganglia HP:0007007 Dorsal column degeneration HP:0007006 Motor axonal neuropathy HP:0007002 Length dependent motor neuropathy HP:0007002 Distal motor neuropathy HP:0007002 Loss of Purkinje cells in the cerebellar vermis HP:0007001 Morning myoclonic jerks HP:0007000 Cell loss and gliosis in the basal ganglia HP:0006999 Basal ganglia gliosis HP:0006999 Diffuse leukoencephalopathy HP:0006994 Anterior basal encephalocele HP:0006992 Myelin-dependent gliosis HP:0006990 Dysplastic corpus callosum HP:0006989 Dysplasia of corpus callosum HP:0006989 Pallor of dorsal columns of the spinal cord HP:0006825 Cranial nerve paresis HP:0006824 Cranial nerve paralysis HP:0006824 Cranial nerve palsy HP:0006824 Cranial nerve palsies HP:0006824 Polymicrogyria, anterior to posterior gradient HP:0006821 Type I lissencephaly HP:0006818 Lissencephaly, type I HP:0006818 Hypo/aplastic vermis HP:0006817 Cerebellar vermis aplasia/hypoplasia HP:0006817 Cerebellar vermis aplasia or hypoplasia HP:0006817 Aplasia/Hypoplasia of the cerebellar vermis HP:0006817 Unilateral clonic seizures HP:0006813 Hemiclonic seizures HP:0006813 White mater abnormalities in the posterior periventricular region HP:0006812 Hypomyelination of the brain HP:0006808 Cerebral hypomyelination HP:0006808 Vivid hallucinations HP:0006803 Anterior horn cell disease HP:0006802 Anomaly of the anterior horn cells HP:0006802 Abnormality of the anterior horn cells HP:0006802 Abnormality of the anterior horn cell HP:0006802 Abnormal anterior horn cell morphology HP:0006802 Hyperactive deep tendon reflexes HP:0006801 Brisk deep tendon reflexes HP:0006801 Cystic lesions in the basal ganglia HP:0006799 Basal ganglia cysts HP:0006799 Loss of ability to walk in first decade HP:0006794 Cerebral cortex with spongiform changes HP:0006790 Mitochondrial encephalopathy HP:0006789 limb girdle muscular dystrophy HP:0006785 Limb-girdle muscular dystrophy HP:0006785 Paranasal sinus hypoplasia HP:0006784 Posterior pharyngeal cleft HP:0006783 Malignant eosinophil proliferation HP:0006782 Hurthle cell thyroid adenoma HP:0006781 Parathyroid carcinoma HP:0006780 Parathyroid Cancer HP:0006780 Alveolar rhabdomyosarcoma HP:0006779 Benign genitourinary tract tumor HP:0006778 Benign genitourinary tract neoplasm HP:0006778 Plasmocytoma HP:0006775 Multiple myeloma HP:0006775 Ovarian papillary adenocarcinoma HP:0006774 Cutaneous angiolipomas HP:0006773 Renal angiomyolipoma HP:0006772 Angiomyolipoma HP:0006772 Duodenal adenocarcinoma HP:0006771 Nonpapillary renal cell carcinoma HP:0006770 Clear cell renal cell carcinoma HP:0006770 Myxoid subcutaneous tumors HP:0006769 Localized neuroblastoma HP:0006768 Prolactin-secreting pituitary adenoma HP:0006767 Pituitary prolactinoma HP:0006767 Pituitary prolactin cell adenoma HP:0006767 Papillary renal cell carcinoma HP:0006766 Chondrosarcoma HP:0006765 Anal canal squamous carcinoma HP:0006763 Renal pelvic carcinoma HP:0006762 Malignant genitourinary tract tumor HP:0006758 Diffuse leiomyomatosis HP:0006756 Cutaneous leiomyosarcoma HP:0006755 Neoplasm of the stomach HP:0006753 Neoplasia of the stomach HP:0006753 Increased gastric cancer HP:0006753 Paraspinal neurofibromas HP:0006751 Malignant gastrointestinal tract tumors HP:0006749 Pheochromocytomas, adrenal HP:0006748 Pheochromocytoma, adrenal HP:0006748 Adrenal pheochromocytoma HP:0006748 Ganglioneuroblastoma HP:0006747 Adrenocortical carcinoma HP:0006744 Adrenal gland carinoma HP:0006744 Adrenal carcinoma HP:0006744 Embryonal rhabdomyosarcoma HP:0006743 Congenital neuroblastoma HP:0006742 Transitional cell carcinoma of the bladder HP:0006740 Transitional cell bladder carcinoma HP:0006740 Squamous skin carcinoma HP:0006739 Squamous cell carcinoma of the skin HP:0006739 Pheochromocytoma, extraadrenal HP:0006737 Extraadrenal pheochromocytoma HP:0006737 Renal cortical adenoma HP:0006735 Acute megakaryocytic leukemia HP:0006733 Papillary renal cell carcinoma type 2 HP:0006732 Follicular thyroid carcinoma HP:0006731 Retroperitoneal chemodectomas HP:0006729 T-cell acute lymphoblastic leukemias HP:0006727 Pancreatic adenocarcinoma HP:0006725 Intestinal carcinoid HP:0006723 Small intestine carcinoid HP:0006722 Acute lymphoid leukemia HP:0006721 Acute lymphocytic leukemia HP:0006721 Acute lymphoblastic leukemia HP:0006721 Acute lymphatic leukemia HP:0006721 Benign gastrointestinal tract tumors HP:0006719 Peripheral neuroepithelioma HP:0006717 Hereditary nonpolyposis colorectal carcinoma HP:0006716 Tympanic nerve tumors (glomus tympanicum) HP:0006715 Tympanic nerve tumors HP:0006715 Glomus tympanicum paraganglioma HP:0006715 Aplasia/Hypoplasia of the sternum HP:0006714 Aplasia/Hypoplasia of the scapulae HP:0006713 Hypoplastic or missing ribs HP:0006712 Aplasia/Hypoplasia of the ribs HP:0006712 Aplasia/Hypoplasia involving bones of the thorax HP:0006711 Aplasia/Hypoplasia of the clavicles HP:0006710 Nipples absent or rudimentary HP:0006709 Aplasia/Hypoplasia of the nipples HP:0006709 Absent/rudimentary nipples HP:0006709 Abnormality of the hepatic vasculature HP:0006707 Cystic liver disease HP:0006706 Abnormality of the atrioventricular valves HP:0006705 Abnormality of the coronary arteries HP:0006704 Aplasia/Hypoplasia of the lungs HP:0006703 Spontaneous coronary artery dissection HP:0006702 Ectopic supraventricular rhythms HP:0006699 Ventricular aneurysm HP:0006698 Polymorphic and polytopic ventricular extrasystoles HP:0006696 Endocardial cushion defect HP:0006695 Atrioventricular septal defect, partial HP:0006695 Atrioventricular septal defect HP:0006695 Atrioventricular canal defect HP:0006695 Early progressive calcific cardiac valvular disease HP:0006694 Myocardial steatosis HP:0006693 Short chordae tendineae of the tricuspid valve HP:0006692 Pulmonic valve myxoma HP:0006691 Myocardial calcification HP:0006690 Bacterial endocarditis HP:0006689 Paroxysmal tachycardia HP:0006688 Aortic tortuosity HP:0006687 Endomyocardial fibrosis HP:0006685 Endocardial fibrosis HP:0006685 Ventricular preexcitation with multiple accessory pathways HP:0006684 Abnormal ventricular filling HP:0006683 Ventricular extrasystoles HP:0006682 Premature ventricular contractions HP:0006682 Absent atrioventricular node HP:0006681 Granulomatous coronary arteritis HP:0006679 Prolonged QRS complex on EKG HP:0006677 Prolonged QRS complex HP:0006677 Reduced systolic function HP:0006673 Paroxysmal atrial tachycardia HP:0006671 Impaired myocardial contractility HP:0006670 Twelfth rib hypoplasia HP:0006668 Coat hanger sign of ribs HP:0006665 Aplastic clavicles HP:0006660 Absent clavicles HP:0006660 Internally rotated shoulders HP:0006659 Hypoplastic first ribs HP:0006657 Hypoplastic first rib HP:0006657 Hypoplasia of first ribs HP:0006657 Rib segmentation abnormalities HP:0006655 Thickening of the lateral border of the scapula HP:0006650 Costochondral pain HP:0006649 Costochondral junction pain HP:0006649 Congenital microthorax HP:0006647 Costal cartilage calcification HP:0006646 Cartilaginous ossification of rib HP:0006646 Thin clavicles HP:0006645 Thoracic dysplasia HP:0006644 Fused sternal ossification centers HP:0006643 Large sternal ossification centers HP:0006642 Prominent floating ribs HP:0006641 Multiple rib fractures HP:0006640 Midclavicular aplasia HP:0006638 Sternal punctate calcifications HP:0006637 Osteosclerosis of ribs HP:0006634 Hypoplastic glenoid fossa HP:0006633 Glenoid hypoplasia HP:0006633 Glenoid fossa hypoplasia HP:0006633 Hypoplastic distal segments of scapulae HP:0006631 Lack of sternal ossification HP:0006628 Absent sternal ossification HP:0006628 Absent sternal mineralization HP:0006628 Multifocal breast carcinoma HP:0006625 Multifocal breast cancer HP:0006625 Sclerotic costochondral joints HP:0006623 Costochondral joint sclerosis HP:0006623 Anterior rib punctate calcifications HP:0006619 Absent in utero rib ossification HP:0006615 Decreased number of sternal ossification centers HP:0006611 Widely-spaced nipples HP:0006610 Widely spaced nipples HP:0006610 Wide-spaced nipples HP:0006610 Wide intermamillary distance HP:0006610 Midclavicular hypoplasia HP:0006608 Precocious costochondral ossification HP:0006607 Irregular costochondral margins HP:0006606 Irregular chondrocostal junctions HP:0006606 Distal and middle phalangeal hypoplasia HP:0006118 Brachytelephalangy HP:0006118 Multiple palmar creases HP:0006114 Expanded phalanges with widened medullary cavities HP:0006112 Shortening of all middle phalanges of the fingers HP:0006110 Disproportionately short middle phalanges HP:0006110 Aplasia of the interphalangeal creases HP:0006109 Absent phalangeal crease HP:0006109 Absent interphalangeal creases HP:0006109 Tapered metacarpals HP:0006108 Fingerpad telangiectases HP:0006107 Finger pad telangiectases HP:0006107 Absent trapezoid bone HP:0006106 Partial syndactyly HP:0006101 Finger syndactyly HP:0006101 Metacarpophalangeal joint hyperextensibility HP:0006099 Partial or complete syndactyly 3rd-4th fingers HP:0006097 3-4 finger syndactyly HP:0006097 Wide tufts of distal phalanges HP:0006095 Finger joint hypermobility HP:0006094 Malaligned carpal bone HP:0006092 Palmar hyperhidrosis HP:0006089 1-5 finger complete cutaneous syndactyly HP:0006088 Thin metacarpal cortices HP:0006086 Absent proximal finger flexion creases HP:0006077 Metacarpophalangeal joint contracture HP:0006070 Abnormal cervical curvature HP:0005905 Chronic recurrent multifocal osteomyelitis HP:0005901 Fifth metacarpal with ulnar notch HP:0005900 Fifth metacarpal notched on ulnar side HP:0005900 Metaphyseal dysostosis HP:0005899 Severe, generalized osteoporosis HP:0005897 Severe generalized osteoporosis HP:0005897 Radial deviation of thumb terminal phalanx HP:0005895 Double first metacarpals HP:0005894 Proximal tibial and fibular fusion HP:0005892 Progressive forearm curvature HP:0005891 Progressive forearm bowing HP:0005891 Hyperostosis cranialis interna HP:0005890 Aphalangy of the hands HP:0005886 Absent ossification of cervical vertebral bodies HP:0005885 Dermatoglyphic variants HP:0005882 Spinal instability HP:0005881 Metacarpophalangeal synostosis HP:0005880 Congenital finger flexion contractures HP:0005879 Congenital finger contractures HP:0005879 Enlarged sagittal diameter of the cervical canal HP:0005878 Multiple small vertebral fractures HP:0005877 Progressive flexion contractures HP:0005876 Joint contractures, progressive HP:0005876 Increased dermatoglyphic whorls HP:0005875 Polysyndactyly of hallux HP:0005873 Polysyndactyly of great toe HP:0005873 Short middle and distal phalanges of digits ii through v HP:0005872 Progressive brachydactyly of middle and distal phalanges HP:0005872 Brachytelomesophalangy HP:0005872 Metaphyseal chondrodysplasia HP:0005871 Metaphyseal enchondromatosis HP:0005868 Fused fourth and fifth metacarpals HP:0005867 Fused 4th-5th metacarpals HP:0005867 Opposable triphalangeal thumb HP:0005866 Pseudoarthrosis HP:0005864 Pseudoarthroses HP:0005864 Type E brachydactyly HP:0005863 Cervical spina bifida HP:0005857 Ulnar radial head dislocation HP:0005856 Ulnar dislocation of radial heads HP:0005856 Numerous multiple fractures that are present at birth HP:0005855 Numerous multiple fractures present at birth HP:0005855 Multiple prenatal fractures HP:0005855 Multiple fractures, present at birth HP:0005855 Multiple fractures present at birth HP:0005855 Congenital bone fractures HP:0005855 Congenital foot contraction deformities HP:0005853 Limited elbow extension and supination HP:0005852 Congenital talipes calcaneovalgus HP:0005850 Diffuse cerebral calcification HP:0005849 Bifid thumb distal phalanx HP:0005848 Rounded middle phalanx of finger HP:0005844 Calcific stippling of infantile cartilaginous skeleton HP:0005841 obsolete Joint dislocations in young adult HP:0005837 obsolete Thumbs hypo/aplastic HP:0005834 Joint swelling onset late infancy HP:0005833 Dysharmonic delayed bone age HP:0005832 Type B brachydactyly HP:0005831 Toe contractures HP:0005830 Flexion contracture of toe HP:0005830 Contractures of the toes HP:0005830 Contractures involving the toes HP:0005830 Maldevelopment of radioulnar joint HP:0005829 Transient pulmonary infiltrates HP:0005828 Mixed sclerosis of humeral metaphyses HP:0005825 Clinodactyly of the 2nd toe HP:0005824 Clinodactyly of second toes HP:0005824 Superior rib anomalies HP:0005820 Short middle phalanx of finger HP:0005819 Short middle phalanges HP:0005819 Midphalangeal hypoplasia HP:0005819 Hypoplastic middle phalanx HP:0005819 Hypoplastic middle phalanges HP:0005819 Hypoplasia of the middle phalanges of the hand HP:0005819 Brachymesophalangy HP:0005819 Postaxial polysyndactyly of foot HP:0005817 Supernumerary ribs HP:0005815 Extra ribs HP:0005815 Absent distal phalanges HP:0005807 Coalescence of tarsal bones HP:0005802 Posterior radial head dislocation HP:0005798 Arterial disease of legs HP:0005794 Shortening of all distal phalanges of the toes HP:0005793 Short upper arms HP:0005792 Short humerus HP:0005792 Short humeri HP:0005792 Hypoplastic humerus HP:0005792 Humeral shortening HP:0005792 Humeral hypoplasia HP:0005792 Cortical thickening of long bone diaphyses HP:0005791 Short mandibular condyles HP:0005790 Osteosclerosis, diffuse symmetrical HP:0005789 Generalized osteosclerosis HP:0005789 Diffuse, symmetrical osteosclerosis HP:0005789 Abnormal cervical myelogram HP:0005788 Lumbar platyspondyly HP:0005787 Contractures of the large joints HP:0005781 No fourth finger distal interphalangeal crease HP:0005780 Absent fourth finger distal interphalangeal crease HP:0005780 Carpal bone malsegmentation HP:0005776 Multiple skeletal anomalies HP:0005775 Short forearm HP:0005773 Aplastic/hypoplastic tibia HP:0005772 Aplasia/Hypoplasia of the tibia HP:0005772 Absent/hypoplastic tibia HP:0005772 Fifth finger distal phalanx clinodactyly HP:0005769 Soft tissue syndactyly of toes 2, 3, and 4 HP:0005768 2-4 toe cutaneous syndactyly HP:0005768 1-2 toe complete cutaneous syndactyly HP:0005767 Disproportionate shortening of the tibia HP:0005766 Sacral meningocele HP:0005765 Polyarticular arthritis HP:0005764 Small flat posterior fossa HP:0005759 Basilar impression HP:0005758 Neonatal epiphyseal stippling HP:0005756 Epiphyseal stippling in neonates HP:0005756 Flattened moderately deformed vertebrae HP:0005752 Contractures, lower limbs HP:0005750 Contractures of the joints of the lower limbs HP:0005750 Easily subluxated first metacarpophalangeal joints HP:0005747 Osteosclerosis of the skull base HP:0005746 Osteosclerosis of the base of the skull HP:0005746 Congenital foot contractures HP:0005745 Generalized osteoporosis with pathologic fractures HP:0005744 Perthes-like femoral head changes HP:0005743 Osteochondrosis of the femoral head HP:0005743 Morbus Legg-Calve-Perthes HP:0005743 Legg-Perthes disease HP:0005743 Legg-Calve-Perthes syndrome HP:0005743 Coxa plana HP:0005743 Avascular necrosis of the capital femoral epiphysis HP:0005743 Posterior subluxation of radial head HP:0005739 Short tibiae HP:0005736 Short tibia HP:0005736 Hypoplastic tibia HP:0005736 Hypoplasia of the tibia HP:0005736 Spinal stenosis with reduced interpedicular distance HP:0005733 Spinal stenosis due to short pedicles HP:0005733 Cortical irregularity HP:0005731 Thumbs hypoplastic with bulbous tips HP:0005726 Nonopposable triphalangeal thumb HP:0005725 Shoe-shaped sella turcica HP:0005723 Hyperextensible thumb HP:0005722 Shortening of all metacarpals HP:0005720 Lethal skeletal dysplasia HP:0005716 Lethal dwarfism identifiable at birth HP:0005716 Flattened knee epiphyses HP:0005715 2-3 toe cutaneous syndactyly HP:0005709 Bilateral triphalangeal thumbs HP:0005707 Bilateral digitalized thumb HP:0005707 Multiple enchondromatosis HP:0005701 Increased bone density with cystic changes HP:0005700 Postaxial polydactyly type A HP:0005696 Partial fusion of proximal row of carpal bones HP:0005694 Joint hyperflexibility HP:0005692 Dermatoglyphic ridges abnormal HP:0005689 Dysplastic distal thumb phalanges with a central hole HP:0005688 Deformed humeral heads HP:0005687 Patchy osteosclerosis HP:0005686 Patchy increase of bone mineral density HP:0005686 Distal arthrogryposis HP:0005684 Talocalcaneal synostosis HP:0005682 Rheumatoid arthritis, juvenile HP:0005681 Juvenile rheumatoid arthritis HP:0005681 Tongue-like lumbar vertebral deformities HP:0005680 Dupuytren contracture HP:0005679 Anterior atlanto-occipital dislocation HP:0005678 Rudimentary postaxial polydactyly of hands HP:0005676 Bilateral intracranial calcifications HP:0005671 Os odontoideum HP:0005667 Massively thickened long bone cortices HP:0005665 Salmonella osteomyelitis HP:0005661 Thoracic kyphoscoliosis HP:0005659 Positional foot deformity HP:0005656 Multiple digital exostoses HP:0005655 Moderate generalized osteoporosis HP:0005653 Cortical sclerosis HP:0005652 Cutaneous syndactyly between fingers 2 and 5 HP:0005650 Bilateral ulnar hypoplasia HP:0005648 Multiple intervertebral disk calcifications HP:0005645 Intervertebral disk calcification HP:0005645 Short third toe HP:0005643 Short 3rd toe HP:0005643 Brachydactyly of third toes HP:0005643 Abnormal vertebral segmentation and fusion HP:0005640 Hyperextensible hand joints HP:0005639 Decreased anterioposterior diameter of lumbar vertebral bodies HP:0005638 Absent forearms HP:0005632 Absent forearm HP:0005632 Dysgenesis of corpus callosum HP:0006989 Alobar holoprosencephaly HP:0006988 Upper limb spasticity HP:0006986 Distal sensory loss of all modalities HP:0006984 Slowly progressive spastic quadriparesis HP:0006983 Progressive leukoencephalopathy HP:0006980 Leukoencephalopathy, progressive HP:0006980 Sleep-wake cycle disturbance HP:0006979 Dysmyelinating leukodystrophy HP:0006978 Grammar-specific speech disorder HP:0006977 Necrotizing encephalopathy HP:0006976 Periventricular leukomalacia HP:0006970 Acute necrotizing encephalopathy HP:0006965 Cerebral cortical neurodegeneration HP:0006964 Gait instability, worse in the dark HP:0006962 Jerky head movements HP:0006961 Jerking head movements HP:0006961 Choroid plexus calcification HP:0006960 Calcified choroid plexus HP:0006960 Proximal spinal muscular atrophy HP:0006959 Abnormal brainstem auditory-evoked potentials HP:0006958 Abnormal auditory evoked potentials HP:0006958 Loss of ability to walk HP:0006957 Lateral ventricle dilatation HP:0006956 Enlarged lateral ventricles HP:0006956 Dilation of lateral ventricles HP:0006956 Dilatation of lateral cerebral ventricles HP:0006956 Olivopontocerebellar hypoplasia HP:0006955 Retrocerebellar cyst HP:0006951 Episodic peripheral neuropathy HP:0006949 Recurrent meningitis HP:0006946 Abolished vibration sense HP:0006944 Diffuse spongiform leukoencephalopathy HP:0006943 Impaired vibration sensation at ankles HP:0006938 Decreased vibration sense in feet HP:0006938 Decreased vibration sense at ankles HP:0006938 Impaired distal tactile sensation HP:0006937 Decreased distal touch sense HP:0006937 Nystagmus, congenital HP:0006934 Congenital nystagmus HP:0006934 Transient psychotic episodes HP:0006932 Lipoma of corpus callosum HP:0006931 Frontoparietal cortical dysplasia HP:0006930 Hypoglycemic encephalopathy HP:0006929 Unilateral polymicrogyria HP:0006927 Metachromatic leukodystrophy variant HP:0006926 Axial muscle stiffness HP:0006921 Abnormal aggressive, impulsive or violent behavior HP:0006919 Diffuse cerebral sclerosis HP:0006918 Intraaxonal accumulation of curvilinear profiles HP:0006916 Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material HP:0006916 Inability to walk by childhood/adolescence HP:0006915 Frontal cortical atrophy HP:0006913 Congenital intracerebral calcification HP:0006906 Late-onset spinocerebellar degeneration HP:0006904 Congenital peripheral neuropathy HP:0006903 Impaired thermal sensitivity HP:0006901 Fusion of the cerebellar hemispheres HP:0006899 Cranial nerve VI palsy HP:0006897 Hypnopompic hallucinations HP:0006896 Lower limb hypertonia HP:0006895 Hypoplastic olfactory lobes HP:0006894 Severely dysplastic cerebellum HP:0006893 Frontotemporal cerebral atrophy HP:0006892 Cerebral atrophy, frontotemporal HP:0006892 Thick cerebral cortex HP:0006891 Mental retardation, borderline HP:0006889 Intellectual disability, borderline HP:0006889 Meningoencephalocele HP:0006888 Progressive mental retardation HP:0006887 Mental retardation, progressive HP:0006887 Intellectual disability, progressive HP:0006887 Impaired distal vibration sensation HP:0006886 Decreased distal vibration sense HP:0006886 Severe hydrocephalus HP:0006882 Diffuse peripheral demyelination HP:0006881 Hemangioblastoma, sporadic cerebellar HP:0006880 Cerebellar hemangioblastoma HP:0006880 Pontocerebellar atrophy HP:0006879 obsolete Mental retardation, in some HP:0006877 Symmetrical progressive peripheral demyelination HP:0006873 Cerebral hypoplasia HP:0006872 Lobar holoprosencephaly HP:0006870 Midline central nervous system lipomas HP:0006866 Sensorimotor polyneuropathy affecting arms more than legs HP:0006865 Severe expressive language delay HP:0006863 Posterior leukoencephalopathy HP:0006859 Impaired distal proprioception HP:0006858 Distal sensory loss of proprioception HP:0006858 Cerebellar vermis atrophy HP:0006855 Atrophy of the cerebellar vermis HP:0006855 Atrophy of cerebellar vermis HP:0006855 Episodic generalized hypotonia HP:0006852 Symmetric spinal nerve root neurofibromas HP:0006851 Spinal nerve root neurofibromas, symmetric, multiple HP:0006851 Hypoplasia of the ventral pons HP:0006850 Hypodysplasia of the corpus callosum HP:0006849 Acute encephalopathy HP:0006846 Absent patellar reflexes HP:0006844 Congenital Horner syndrome HP:0006837 Developmental stagnation at onset of seizures HP:0006834 Severe neonatal hypotonia in males HP:0006830 Severe muscular hypotonia HP:0006829 Hypotonia, severe HP:0006829 Atrophy of the spinal cord HP:0006827 Peg-like central prominence of distal tibial metaphyses HP:0006423 Asymmetric radial dysplasia HP:0006420 Broad femoral metaphyses HP:0006417 Cortically dense long tubular bones HP:0006415 Tibial bowing at ankle HP:0006414 Distal tibial bowing HP:0006414 Bowing of the distal tibia HP:0006414 Broad tibial metaphyses HP:0006413 Progressive leg bowing HP:0006409 Distal tapering femur HP:0006408 Irregular distal femoral epiphysis HP:0006407 Club-shaped proximal femur HP:0006406 Distal shortening of limbs HP:0006402 Absent knee epiphyses HP:0006400 Flattened distal femoral epiphyses HP:0006398 Flat distal femoral epiphysis HP:0006398 Lateral displacement of patellae HP:0006397 Limited pronation/supination of forearm HP:0006394 Increased density of long bones HP:0006392 Overtubulated long bones HP:0006391 Anterior tibial bowing HP:0006390 Anterior bowing of tibia HP:0006390 Limited knee flexion HP:0006389 Wide distal metaphysis of femur HP:0006387 Wide distal femoral metaphysis HP:0006387 Hypoplastic distal radial epiphyses HP:0006386 Short lower limbs HP:0006385 Short legs HP:0006385 Club-shaped distal femur HP:0006384 Club-shaped distal femora HP:0006384 Progressive bowing of long bones HP:0006383 Small to absent fibula HP:0006381 Rudimentary to absent fibulae HP:0006381 Rudimentary fibula HP:0006381 Knee flexion deformity HP:0006380 Knee flexion contractures HP:0006380 Knee flexion contracture HP:0006380 Knee contractures HP:0006380 Knee contracture HP:0006380 Flexion deformity of the knee HP:0006380 Flexion contractures of knees HP:0006380 Flexion contractures at both knees HP:0006380 Flexion contracture of knees HP:0006380 Contractures of the knees HP:0006380 Contractures of knees HP:0006380 Proximal tibial hypoplasia HP:0006379 Osteolysis of patellae HP:0006378 Limited elbow flexion HP:0006376 Dumbbell-shaped femur HP:0006375 Broad long bone diaphyses HP:0006371 Distal ulnar epiphyseal stippling HP:0006370 Distal ulnar epiphyseal calcifications HP:0006370 Irregular patellar margins HP:0006369 Irregular patellar contour HP:0006369 Irregular patellae HP:0006369 Forearm reduction defects HP:0006368 Crumpled long bones HP:0006367 Adductor longus contractures HP:0006366 Varus deformity of humeral neck HP:0006362 Irregular femoral epiphysis HP:0006361 Shovel-shaped maxillary central incisors HP:0006358 Premature loss of secondary teeth HP:0006357 Premature loss of permanent teeth HP:0006357 Agenesis of mandibular central incisor HP:0006355 Hypoplastic tooth buds HP:0006353 Hypoplasia of the tooth germ HP:0006353 Failure of eruption of permanent teeth HP:0006352 Obliteration of the pulp chamber HP:0006350 Type D brachydactyly HP:0005627 Brachydactyly type D HP:0005627 Posterior fusion of lumbosacral vertebrae HP:0005626 Osteoporosis of vertebrae HP:0005625 Absent ossification of skull vault HP:0005623 Absent ossification of calvaria HP:0005623 Widened long bones HP:0005622 Wide long bones HP:0005622 Broad long bones HP:0005622 Trapezoidal shaped vertebral bodies HP:0005621 Hypermobility of interphalangeal joints HP:0005620 Thoracolumbar kyphosis HP:0005619 Thoracolumbar gibbus deformity HP:0005619 Thoracolumbar gibbus HP:0005619 Bilateral camptodactyly HP:0005617 Early bone maturation HP:0005616 Advanced bone age HP:0005616 Accelerated skeletal maturation HP:0005616 Hypoplastic/aplastic femora HP:0005613 Hypoplastic to absent femora HP:0005613 Aplasia/hypoplasia of the femur HP:0005613 Arthrogryposis-like hand anomaly HP:0005612 Gallbladder dysfunction HP:0005609 Gallbladder duplication HP:0005608 Double gallbladder HP:0005608 Bilobed gallbladder HP:0005608 Prominent metopic suture HP:0005487 Prominent metopic ridge HP:0005487 small cranial sutures HP:0005486 small bregma sutures HP:0005486 microfontanelle HP:0005486 little fontanelle HP:0005486 little cranial sutures HP:0005486 Small fontanelle HP:0005486 development of small head that was not present at birth HP:0005484 acquired microcephaly HP:0005484 Postnatal microcephaly HP:0005484 Postnatal deceleration of head circumference HP:0005484 Microcephaly, postnatal HP:0005484 Microcephaly, acquired HP:0005484 Deceleration of head growth HP:0005484 Abnormality of the epiglottis HP:0005483 Abnormality of the alternate complement pathway HP:0005482 IgE deficiency HP:0005479 Decreased IgE HP:0005479 Prominent frontal sinuses HP:0005478 Progressive sclerosis of skull base HP:0005477 Widely patent sagittal suture HP:0005476 Undermineralized calvarium HP:0005474 Soft calvaria HP:0005474 Poorly ossified calvarium HP:0005474 Poorly ossified calvaria HP:0005474 Decreased calvarial ossification HP:0005474 Fusion of middle ear ossicles HP:0005473 Orbital craniosynostosis HP:0005472 flat posterior head HP:0005469 flat posterior cranium HP:0005469 flat back of the skull HP:0005469 flat back of the head HP:0005469 Posterior flattening of the skull HP:0005469 Flat occiput HP:0005469 Hypoplastic frontal bones HP:0005466 Hypoplasia of the frontal bone HP:0005466 Overgrowth of the facial bones HP:0005465 Increase in size of the facial bones HP:0005465 Hypertrophy of the facial bones HP:0005465 Hyperostosis of facial bones HP:0005465 Facial hyperostosis HP:0005465 Enlargment of the facial bones HP:0005465 Craniofacial osteosclerosis HP:0005464 Cranial sclerosis HP:0005464 Elongated sella turcica HP:0005463 Calcification of falx cerebri HP:0005462 Craniofacial disproportion HP:0005461 premature closure of the cranial sutures HP:0005458 premature closure of the bregma sutures HP:0005458 early closure of the fontanelles HP:0005458 early closure of the cranial sutures HP:0005458 early closure of the bregma sutures HP:0005458 Premature closure of fontanelles HP:0005458 Obliterated fontanelles HP:0005458 Absent ethmoidal sinuses HP:0005456 Absent/hypoplastic paranasal sinuses HP:0005453 Decreased cranial base ossification HP:0005451 Calvarial osteosclerosis HP:0005450 Bridged sella turcica HP:0005449 Obtuse angle of mandible HP:0005446 Widened posterior fossa HP:0005445 Widely patent coronal suture HP:0005442 Sclerotic cranial sutures HP:0005441 Maxillozygomatic hypoplasia HP:0005439 Recurrent infections in infancy and early childhood HP:0005437 T-cell dysfunction HP:0005435 Impaired T cell function HP:0005435 Transient hypogammaglobulinemia of infancy HP:0005432 Newborn gammaglobulin deficiency HP:0005432 Recurrent neisseria infections HP:0005430 Recurrent Neisserial infections HP:0005430 Episodes of neisserial infection HP:0005430 Recurrent systemic pyogenic infections HP:0005429 Severe recurrent varicella HP:0005428 Recurrent sinopulmonary infections HP:0005425 Chronic sinopulmonary infection HP:0005425 Absent specific antibody response HP:0005424 Dysfunctional alternative complement pathway HP:0005423 Absence of CD8+ T cells HP:0005422 Decreased serum complement C3 HP:0005421 Decreased serum C3 HP:0005421 Recurrent gram-negative bacterial infections HP:0005420 Profound depletion of T4+ lymphocytes HP:0005419 Defective T cell activation HP:0005419 Decreased T cell activation HP:0005419 Decreased serum factor b HP:0005416 Decreased serum complement factor B HP:0005416 Decreased number of CD8+ T cells HP:0005415 Increased alpha-globulin HP:0005413 Chronic intestinal candidiasis HP:0005411 Candida overgrowth syndrome HP:0005411 Markedly reduced T cell function HP:0005409 Decreased number of CD4+ T cells HP:0005407 Abnormality of CD4+ T cells HP:0005407 Recurrent pyogenic skin infections HP:0005406 Recurrent episodes of infectious dermatitis HP:0005406 Recurrent episodes of impetigo HP:0005406 Recurrent cutaneous pyogenic infections HP:0005406 Recurrent bacterial skin infections HP:0005406 Increased number of B cells HP:0005404 Increase in B cell number HP:0005404 T lymphocytopenia HP:0005403 Reduced number of T cells HP:0005403 Low T cell count HP:0005403 Decreased numbers of circulating T cells HP:0005403 Primary T-lymphocyte immune abnormalities HP:0005402 Recurrent candida infections HP:0005401 Frequent candida infections HP:0005401 Reduction of neutrophil motility HP:0005400 Exaggerated cellular immune processes HP:0005397 Susceptibility to coronavirus 229e HP:0005396 Recurrent opportunistic infections HP:0005390 Frequent opportunistic infections HP:0005390 Depletion of components of the alternative complement pathway HP:0005389 Combined immunodeficiency HP:0005387 Recurrent protozoan infections HP:0005386 Defective B cell activation HP:0005384 Recurrent meningococcal disease HP:0005381 Increased susceptibility to neisseria meningitidis infections HP:0005381 Severe T lymphocytopenia HP:0005379 Absent peripheral blood T cells HP:0005379 Recurrent Haemophilus influenzae infections HP:0005376 Partial cellular immunodeficiency HP:0005375 Cellular immunodeficiency HP:0005374 Reduced B cell function HP:0005372 Abnormality of B cell physiology HP:0005372 Decreased serum complement factor H HP:0005369 Defective humoral immunity HP:0005368 Abnormality of humoral immunity HP:0005368 Recurrent streptococcus pneumoniae infections HP:0005366 Severe B lymphocytopenia HP:0005365 Absent B cells HP:0005365 Absence of B cells HP:0005365 Severe viral infections HP:0005364 Partial humoral immunodeficiency HP:0005363 Susceptibility to chickenpox HP:0005360 Aplasia of the thymus HP:0005359 Defective B cell differentiation HP:0005357 Decreased serum complement factor I HP:0005356 Absent cellular immunity HP:0005354 Susceptibility to herpesvirus HP:0005353 Severe T-cell immunodeficiency HP:0005352 Hypoplastic epiglottis HP:0005349 Hypoplasia of the epiglottis HP:0005349 Inspiratory stridor HP:0005348 Cartilaginous trachea HP:0005347 Abnormal facial expression HP:0005346 Abnormality of the vena cava HP:0005345 Abnormality of the carotid arteries HP:0005344 Hypoplastic bladder HP:0005343 Hypoplasia of the bladder HP:0005343 Autonomic bladder dysfunction HP:0005341 Spastic/hyperactive bladder HP:0005340 Abnormality of complement system HP:0005339 Sparse lateral eyebrows HP:0005338 Sparse lateral eyebrow HP:0005338 Laterally sparse eyebrows HP:0005338 Laterally sparse eyebrow HP:0005338 Lateral thinning of eyebrows HP:0005338 Lateral hypoplasia of eyebrows HP:0005338 Forehead hyperpigmentation HP:0005336 Sleepy facial expression HP:0005335 Recurrent mandibular subluxations HP:0005332 Fixed facial expression HP:0005329 Wizened face HP:0005328 Progeroid facial appearance HP:0005328 Prematurely aged facial appearance HP:0005328 Prematurely aged face HP:0005328 Aged facial appearance HP:0005328 Loss of facial expression HP:0005327 Hypoplastic philtrum HP:0005326 Unusual hairline with hair growth on temples extending to lateral eyebrow HP:0005325 Extension of hair growth on temples to lateral eyebrow HP:0005325 Disturbance of facial expression HP:0005324 Overgrowth of half of face HP:0005323 Increase in size of half of face HP:0005323 Hypertrophy of half of face HP:0005323 Hemifacial hypertrophy HP:0005323 Hemifacial enlargement HP:0005323 Facial hemihypertophy HP:0005323 Enlargement of half of face HP:0005323 Prominent nasal septum HP:0005322 Mandibulofacial dysostosis HP:0005321 Lack of facial subcutaneous fat HP:0005320 Cerebral vasculitis HP:0005318 Increased pulmonary vascular resistance HP:0005317 Peripheral pulmonary vessel aplasia HP:0005316 Peripheral vascular insufficiency HP:0005315 Peripheral artery occlusive disease HP:0005315 Metacarpal/phalangeal joint contractures HP:0006070 Severe carpal ossification delay HP:0006069 Multiple carpal ossification centers HP:0006067 Limited interphalangeal movement HP:0006064 Tombstone-shaped proximal phalanges HP:0006060 Metacarpal cone-shaped epiphyses HP:0006059 Cone-shaped metacarpal epiphyses HP:0006059 Ulnar deviated club hands HP:0006055 Metacarpal periosteal thickening HP:0006051 Distal widening of metacarpals HP:0006048 Short pointed phalanges HP:0006045 Y-shaped metacarpals HP:0006042 Long second metacarpal HP:0006040 Cone-shaped epiphyses of phalanges 2 to 5 HP:0006035 Metaphyseal cupping of metacarpals HP:0006028 Metacarpal/metaphyseal cupping HP:0006028 Rounded epiphyses HP:0006026 Reduced proximal interphalangeal joint space HP:0006019 Delayed phalangeal epiphyseal ossification HP:0006016 Delayed phalangeal epiphyseal bone maturation HP:0006016 Abnormally shaped carpal bones HP:0006014 Widened metacarpal shaft HP:0006012 Cuboidal metacarpal HP:0006011 Widened phalanges HP:0006009 Wide phalanges HP:0006009 Broad phalanx HP:0006009 Broad phalanges HP:0006009 Unilateral brachydactyly HP:0006008 Hypotrophy of the small hand muscles HP:0006006 Ureteral obstruction HP:0006000 Ureteral atresia HP:0005999 Restricted neck movement due to contractures HP:0005997 Loss of adipose tissue around the neck HP:0005995 Decreased adipose tissue around neck HP:0005995 Nodular goiter HP:0005994 Limited neck flexion HP:0005991 Thyroid hypoplasia HP:0005990 Hypoplastic thyroid HP:0005990 Redundant skin over the neck HP:0005989 Redundant skin folds of neck HP:0005989 Redundant nuchal skin HP:0005989 Redundant neck skin HP:0005989 Torticollis, congenital HP:0005988 Congenital muscular torticollis HP:0005988 Multinodular goiter HP:0005987 Limitation of neck motion HP:0005986 Elevated maternal serum alpha-fetoprotein HP:0005984 Reduced phenylalanine hydroxylase activity HP:0005982 Phenylalanine hydroxylase deficiency HP:0005982 Metabolic ketoacidosis HP:0005979 Type II diabetes mellitus HP:0005978 Noninsulin-dependent diabetes mellitus HP:0005978 Noninsulin-dependent diabetes HP:0005978 Noninsulin dependent diabetes mellitus (NIDDM) HP:0005978 NIDDM diabetes mellitus HP:0005978 Diabetes mellitus, noninsulin-dependent HP:0005978 Diabetes mellitus type 2 HP:0005978 Diabetes mellitus Type II HP:0005978 Hypochloremic metabolic alkalosis HP:0005977 Hyperkalemic metabolic acidosis HP:0005976 Ketoacidosis, episodic HP:0005974 Episodic ketoacidosis HP:0005974 Fructose intolerance HP:0005973 Respiratory acidosis HP:0005972 Temperature instability HP:0005968 Body temperature instability HP:0005968 Mixed respiratory and metabolic acidosis HP:0005967 Intermittent hypothermia HP:0005964 Hypoargininemia HP:0005961 Arginine deficiency HP:0005961 Impaired gluconeogenesis HP:0005959 Gluconeogenesis impaired HP:0005959 Breathing dysregulation HP:0005957 Anteroposteriorly shortened larynx HP:0005956 Pulmonary hemangiomas HP:0005954 Pulmonary capillary hemangiomatosis HP:0005954 Decreased pulmonary function HP:0005952 Progressive inspiratory stridor HP:0005951 Partial laryngeal atresia HP:0005950 Laryngeal webs HP:0005950 Laryngeal web HP:0005950 Apneic episodes in infancy HP:0005949 Cystic lung disease HP:0005948 Decreased sensitivity to hypoxemia HP:0005947 Ventilator dependence with inability to wean HP:0005946 Laryngeal obstruction HP:0005945 Bilateral pulmonary agenesis HP:0005944 Bilateral lung agenesis HP:0005944 Respiratory arrest HP:0005943 Desquamative interstitial pneumonitis HP:0005942 Intermittent hyperpnea at rest HP:0005941 Multiple bilateral pneumothoraces HP:0005939 Abnormal respiratory motile cilium morphology HP:0005938 Imperfect vocal cord adduction HP:0005934 Abnormal renal corticomedullary differentiation HP:0005932 Epiphyseal abnormality HP:0005930 Anomaly of the epiphyses HP:0005930 Abnormality of the epiphyses HP:0005930 Abnormality of epiphysis morphology HP:0005930 Synostosis involving the tibia HP:0005929 Synostosis involving the fibula HP:0005928 Hypoplasia/absence of hand bones HP:0005927 Aplasia/hypoplasia involving bones of the hand HP:0005927 Abnormalities of the cortex of hand bones HP:0005926 Abnormalities of the diaphyses of the hand HP:0005925 Abnormality of the epiphyses of the hand HP:0005924 Abnormalities of the metaphyses of the hand HP:0005923 Abnormal hand morphology HP:0005922 Abnormal ossification of hand bones HP:0005921 Abnormality of the epiphyses of the phalanges of the hand HP:0005920 Abnormality of the epiphyses of the fingers HP:0005920 Abnormality of the phalanges of the hand HP:0005918 Abnormality of the phalanges HP:0005918 Abnormality of phalanx of finger HP:0005918 Abnormal form of phalanges of the hand HP:0005918 Supernumerary metacarpal bones HP:0005917 Abnormal shape of metacarpal bones HP:0005916 Abnormal metacarpal morphology HP:0005916 Metacarpal aplasia/hypoplasia HP:0005914 Hypoplastic/absent metacarpals HP:0005914 Hypoplastic/absent metacarpal bones HP:0005914 Hypoplastic metacarpals HP:0005914 Aplastic/hypoplastic metacarpals HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones HP:0005914 Absent or hypoplastic metacarpals HP:0005914 Abnormality of metacarpal epiphyses HP:0005913 Biliary duct atresia HP:0005912 Biliary atresia HP:0005912 Rhomboid or triangular shaped fifth finger middle phalanx HP:0005910 Rhomboid or triangular shaped 5th finger middle phalanx HP:0005910 Mastoid processes poorly pneumatized HP:0005906 Delayed pneumatization of the mastoid process HP:0005906 Occlusive vascular disease HP:0005315 Occlusive arterial disease HP:0005315 A narrowing of the peripheral arteries (i.e., of arteries other than thos that supply the heart and the brain). HP:0005315 Anomalous branches of internal carotid artery HP:0005314 Arterial fibromuscular dysplasia HP:0005313 Pulmonary aterial intimal fibrosis HP:0005312 Agenesis of pulmonary vessels HP:0005311 Large vessel vasculitis HP:0005310 obsolete Peripheral vascular insufficiency HP:0005309 Pulmonary artery vasoconstriction HP:0005308 Postural hypotension with compensatory tachycardia HP:0005307 Capillary hemangiomas HP:0005306 Capillary hemangioma HP:0005306 Cerebral venous thrombosis HP:0005305 Cerebral vein thrombosis HP:0005305 Cerebral thrombosis HP:0005305 Hypoplastic pulmonary veins HP:0005304 Aortic arch calcification HP:0005303 Tortuous carotid arteries HP:0005302 Carotid artery tortuosity HP:0005302 Persistent left superior vena cava HP:0005301 Nodular inflammatory vasculitis HP:0005300 obsolete Premature peripheral vascular disease HP:0005299 Atrioventricular canal defect with right ventricle aorta and pulmonary atresia HP:0005298 Premature occlusive vascular disease HP:0005297 obsolete Occlusive vascular disease HP:0005296 Impaired left ventricular function HP:0005162 Total anomalous pulmonary venous return HP:0005160 Total anomalous pulmonary venous drainage HP:0005160 Total anomalous pulmonary venous connection HP:0005160 Symmetric, concentric, hypertrophic cardiomyopathy HP:0005157 Concentric hypertrophic cardiomyopathy HP:0005157 Hypoplastic left atrium HP:0005156 Ventricular escape rhythms HP:0005155 Oncocytic cardiomyopathy HP:0005152 Proximal aortic coarctation HP:0005151 Preductal coarctation of the aorta HP:0005151 Abnormal atrioventricular conduction HP:0005150 Pulmonary valve defects HP:0005148 Bidirectional ventricular ectopy HP:0005147 Cardiac valve calcification HP:0005146 Calcifications of the cardiac valves HP:0005146 Coronary artery stenosis HP:0005145 Left ventricular septal hypertrophy HP:0005144 Anomalous origin of right pulmonary artery from ascending aorta HP:0005143 Episodes of ventricular tachycardia HP:0005141 Premature calcification of mitral annulus HP:0005136 EKG: T-wave abnormalities HP:0005135 Absent pulmonary valve HP:0005134 Absence of the pulmonary valve HP:0005134 Right ventricular dilatation HP:0005133 Pericardial constriction HP:0005132 Restrictive heart failure HP:0005130 Congenital hypertrophy of left ventricle HP:0005129 Posterior vertebral body scalloping HP:0005121 Posterior scalloping of vertebral bodies HP:0005121 Abnormality of cardiac atrium HP:0005120 Elevated diastolic blood pressure HP:0005117 Arterial tortuosity HP:0005116 arrhythmias, Supraventricular HP:0005115 Supraventricular arrhythmia HP:0005115 Abnormalities of the peripheral arteries HP:0005114 Dilatation of the aortic arch HP:0005113 Aortic arch dilatation HP:0005113 Dilatation of the abdominal aorta HP:0005112 Dilation of the ascending aorta HP:0005111 Dilatation of the ascending aorta HP:0005111 Atrial fibrillation HP:0005110 Abnormality of the calcaneal tendon HP:0005109 Abnormality of the Achilles tendon HP:0005109 Abnormality of the intervertebral disk HP:0005108 Abnormality of the sacrum HP:0005107 Abnormality of the vertebral endplates HP:0005106 Abnormal nasal morphology HP:0005105 Hypoplastic nasal septum HP:0005104 Petrified ear HP:0005103 Ossification of pinnae HP:0005103 Ear cartilage calcification HP:0005103 Cartilaginous ossification of pinnae HP:0005103 Calcification of the auricular cartilage HP:0005103 Progressive cochlear degeneration HP:0005102 Cochlear degeneration HP:0005102 Progressive high-frequency hearing loss HP:0005101 Progressive high frequency hearing loss HP:0005101 High-frequency hearing impairment HP:0005101 High-frequency deafness HP:0005101 High frequency hearing loss HP:0005101 Hearing loss, high-frequency HP:0005101 Premature birth following premature rupture of fetal membranes HP:0005100 Severe hydrops fetalis HP:0005099 Severe hydrops HP:0005099 Distal femoral bowing HP:0005096 Absent proximal radial epiphyses HP:0005093 Streaky metaphyseal sclerosis HP:0005092 Lateral femoral bowing HP:0005090 Abnormal metaphyseal trabeculation HP:0005089 Knee osteoarthritis HP:0005086 Limited knee flexion/extension HP:0005085 Anterior radial head dislocation HP:0005084 Anterior dislocation of radial head HP:0005084 Increased laxity of wrists HP:0005072 Hyperextensibility at wrists HP:0005072 Proximal radial head dislocation HP:0005070 Rhizo-meso-acromelic limb shortening HP:0005069 Absent styloid process of ulna HP:0005068 Proximal fibular overgrowth HP:0005067 Cone-shaped epiphyses fused within their metaphyses HP:0005066 Fragmented, irregular epiphyses HP:0005063 Limited elbow flexion/extension HP:0005060 Arthralgia/arthritis HP:0005059 Metaphyseal spurs HP:0005054 Anterolateral radial head dislocation HP:0005050 Anterior/lateral radial head dislocation HP:0005050 Synostosis of carpal bones HP:0005048 Fusion of carpal bones HP:0005048 Diaphyseal cortical sclerosis HP:0005045 Proximal humeral metaphyseal irregularity HP:0005043 Irregular proximal humeral metaphyses HP:0005043 Irregular, rachitic-like metaphyses HP:0005042 Irregular proximal femoral epiphyses HP:0005041 Irregular capital femoral epiphysis HP:0005041 Irregular capital femoral epiphyses HP:0005041 Multiple long-bone exostoses HP:0005039 Multiple exostoses of long tubular bones HP:0005039 Proximal radio-ulnar synostosis HP:0005037 Unilateral ulnar hypoplasia HP:0005036 Shortening of all phalanges of the toes HP:0005035 Hypoplastic distal ulna HP:0005033 Distal ulnar hypoplasia HP:0005033 Distal shortening of ulna HP:0005033 Widened proximal tibial metaphyses HP:0005028 Mesomelic/rhizomelic limb shortening HP:0005026 Hypoplastic distal humeri HP:0005025 Bilateral elbow dislocations HP:0005021 Diaphyseal thickening HP:0005019 Polyarticular chondrocalcinosis HP:0005017 Dysplastic distal radial epiphyses HP:0005013 Upper limb brachymesomelia HP:0005011 Mesomelic arm shortening HP:0005011 Mesomelia of the upper limbs HP:0005011 Osteomyelitis leading to amputation due to slow healing fractures HP:0005010 Dumbbell-shaped humerus HP:0005009 Large joint dislocations HP:0005008 Femoral bowing present at birth, straightening with time HP:0005005 Flattened proximal radial epiphyses HP:0005004 Aplasia/Hypoplasia of the capital femoral epiphysis HP:0005003 Recurrent patellar dislocation HP:0005001 Recurrent dislocation of patellas HP:0005001 Multicentric ossification of proximal humeral epiphyses HP:0004997 Slender long bones with narrow diaphyses HP:0004993 Rhizomelic arm shortening HP:0004991 Epiphyseal streaking HP:0004990 Mesomelic lower limb shortening HP:0004987 Mesomelic leg shortening HP:0004987 Mesomelia of the lower limbs HP:0004987 obsolete Rudimentary to absent fibulae HP:0004986 Small to absent fibula HP:0004986 Prominent styloid process of ulna HP:0004981 Rarefaction of the metaphyses HP:0004980 Metaphyseal rarefaction HP:0004980 Sclerotic metaphyses HP:0004979 Metaphyseal sclerosis HP:0004979 Bilateral radial aplasia HP:0004977 Bilateral absence of radius HP:0004977 Knee dislocations HP:0004976 Knee dislocation HP:0004976 Dislocations of the knees HP:0004976 Erlenmeyer flask femora HP:0004975 Erlenmeyer flask deformity of the femurs HP:0004975 Erlenmeyer flask deformity of distal femur HP:0004975 Coarctation of abdominal aorta HP:0004974 Elevated mean arterial pressure HP:0004972 Pulmonary artery hypoplasia HP:0004971 Ascending aortic dilation HP:0004970 peripheral pulmonary stenosis HP:0004969 Peripheral pulmonic stenosis HP:0004969 Peripheral pulmonary artery stenosis HP:0004969 Recurrent cerebral hemorrhage HP:0004968 Medial calcification of large arteries HP:0004966 Pulmonary arterial medial hypertrophy HP:0004964 Hypertrophy of the pulmonary artery wall HP:0004964 Calcification of the aorta HP:0004963 Thoracic aorta calcification HP:0004962 Pulmonary artery sling HP:0004961 Absent pulmonary artery HP:0004960 Dilatation of the descending thoracic aorta HP:0004959 Generalized arterial tortuosity HP:0004955 Arterial tortuosity, generalized HP:0004955 Arterial tortuosity, general HP:0004955 Descending thoracic aortic aneurysm HP:0004954 Descending aortic aneurysm HP:0004954 Abdominal aortic aneurysm HP:0004953 Pulmonary arteriovenous fistulas HP:0004952 Peripheral vascular disease HP:0004950 Peripheral arterial disease HP:0004950 Vascular tortuosity HP:0004948 Arteriovenous fistulas HP:0004947 Arteriovenous fistula HP:0004947 Extracranial internal carotid artery dissection HP:0004945 Intracranial aneurysm HP:0004944 Cerebral artery aneurysm HP:0004944 Cerebral aneurysm HP:0004944 Accelerated atherosclerosis HP:0004943 Aortic aneurysm HP:0004942 Extrahepatic portal hypertension HP:0004941 Generalized arterial calcification HP:0004940 Tortuous cerebral arteries HP:0004938 Pulmonary artery aneurysm HP:0004937 Venous thrombosis HP:0004936 Pulmonary atresia HP:0004935 Pulmonary artery atresia HP:0004935 Vascular calcification HP:0004934 Ascending aortic dissection HP:0004933 Arteriosclerosis of small cerebral arteries HP:0004931 Abnormality of the pulmonary vasculature HP:0004930 Coronary atherosclerosis HP:0004929 Bilobate gallbladder HP:0005608 Tracheobronchial anomalies HP:0005607 Abnormality of the tracheobronchial system HP:0005607 Hyperpigmented nevi and streak HP:0005606 Large cafe-au-lait macules with irregular margins HP:0005605 Numerous congenital melanocytic nevi HP:0005603 Progressive vitiligo HP:0005602 Giant pigmented nevus HP:0005600 Giant pigmented hairy nevus HP:0005600 Congenital giant melanocytic nevus HP:0005600 Hypopigmentation of hair HP:0005599 Hair hypopigmentation HP:0005599 Facial telangiectasia in butterfly midface distribution HP:0005598 Butterfly facial telangiectasia HP:0005598 Congenital alopecia totalis HP:0005597 Hyperkeratosis, generalized HP:0005595 Generalized hyperkeratosis HP:0005595 Macular hypopigmented whorls, streaks, and patches HP:0005593 Macromelanosomes HP:0005592 Giant melanosomes in melanocytes HP:0005592 Spotty hypopigmentation HP:0005590 Patchy hypopigmentation HP:0005590 Patchy palmoplantar keratoderma HP:0005588 Palmoplantar keratoderma, patchy HP:0005588 Profuse pigmented skin lesions HP:0005587 Hyperpigmentation of exposed areas HP:0005586 Hyperpigmentation in sun-exposed areas HP:0005586 Spotty hyperpigmentation HP:0005585 Patchy hyperpigmentation HP:0005585 Patchy depigmentation HP:0005585 Renal cell carcinoma HP:0005584 Renal carcinoma HP:0005584 Hypernephroma HP:0005584 Tubular basement membrane disintegration HP:0005583 Disintegration of the tubular basement membrane HP:0005583 Duplication of renal pelvis HP:0005580 Impaired reabsorption of chloride HP:0005579 Tubulointerstitial fibrosis HP:0005576 Renal interstitial fibrosis HP:0005576 Hemolytic-uremic syndrome HP:0005575 Hemolytic uremic syndrome HP:0005575 Non-acidotic proximal tubulopathy HP:0005574 Decreased renal tubular phosphate excretion HP:0005572 Increased renal tubular phosphate reabsorption HP:0005571 Increased percent tubular reabsorption of phosphorus HP:0005571 Renal magnesium wasting HP:0005567 Reduced renal corticomedullary differentiation HP:0005565 Loss of definition of corticomedullary differentiation HP:0005565 Loss of corticomedullary differentiation HP:0005564 Absent renal corticomedullary differentiation HP:0005564 Absence of renal corticomedullary differentiation HP:0005564 Oligonephronia HP:0005563 Decreased numbers of nephrons HP:0005563 Decreased numbers of glomeruli HP:0005563 Multiple renal cysts HP:0005562 Bone marrow disease HP:0005561 Anomaly of the bone marrow cells HP:0005561 Abnormality of bone marrow cell morphology HP:0005561 Imbalanced hemoglobin synthesis HP:0005560 Abnormality of the kinin-kallikrein system HP:0005559 Chronic leukemia HP:0005558 Abnormality of the zygomatic arch HP:0005557 Abnormality of the metopic suture HP:0005556 Chronic lymphocytic leukemia HP:0005550 Chronic lymphatic leukemia HP:0005550 Congenital neutropenia HP:0005549 Megakaryocytopenia HP:0005548 Myeloproliferative disorder HP:0005547 Increased red cell osmotic resistance HP:0005546 Reduced protein C activity HP:0005543 Protein C deficiency HP:0005543 Prolonged whole-blood clotting time HP:0005542 Prolonged clotting time HP:0005542 Congenital agranulocytosis HP:0005541 Red blood cell keratocytosis HP:0005540 Distorted red blood cells resembling keratocytes HP:0005540 T-cell chronic lymphocytic lymphoma/leukemia HP:0005539 Small platelets size HP:0005537 Small platelets HP:0005537 Small platelet size HP:0005537 Decreased mean platelet volume HP:0005537 Exercise-induced hemolysis HP:0005535 Transient myeloproliferative syndrome HP:0005534 Macrocytic dyserythropoietic anemia HP:0005532 Myeloid/lymphoid leukemia HP:0005531 Biphenotypic acute leukaemia HP:0005531 Acute biphenotypic leukemia HP:0005531 Hypoplastic bone marrow HP:0005528 Bone marrow hypoplasia HP:0005528 Bone marrow hypocellularity HP:0005528 Bone marrow failure HP:0005528 Williams-Fitzgerald-Flaujeac factor deficiency HP:0005527 Williams factor deficiency HP:0005527 Reduced kininogen activity HP:0005527 Kininogen deficiency HP:0005527 Fitzgerald factor deficiency HP:0005527 Lymphoid leukemia HP:0005526 Spontaneous hemolytic crises HP:0005525 Macrocytic hemolytic disease HP:0005524 Lymphoproliferative disorders HP:0005523 Lymphoproliferative disorder HP:0005523 Pyridoxine-responsive sideroblastic anemia HP:0005522 Disseminated intravascular coagulation HP:0005521 Compensated disseminated intravascular coagulation HP:0005520 Chronic disseminated intravascular coagulation HP:0005520 Chronic consumption coagulopathy HP:0005520 Increased mean corpuscular volume HP:0005518 Erythrocyte macrocytosis HP:0005518 T-cell lymphoma/leukemia HP:0005517 Increased megakaryocyte count HP:0005513 Impaired neutrophil killing of staphylococci HP:0005512 Heinz body anemia HP:0005511 Transient erythroblastopenia HP:0005510 Waldenstrom macroglobulinemia HP:0005508 Hemoglobin Barts HP:0005507 Chronic myeloid leukemia HP:0005506 Chronic myelogenous leukemia HP:0005506 Chronic myelocytic leukemia HP:0005506 Refractory anemia HP:0005505 Increased red cell osmotic fragility HP:0005502 Increased red cell fragility HP:0005502 Increased erythrocyte osmotic fragility HP:0005502 Midline skin dimples over anterior/posterior fontanelles HP:0005498 Metopic suture patent to nasal root HP:0005495 Premature posterior fontanelle closure HP:0005494 Postnatal macrocephaly HP:0005490 Macrocephaly, postnatal HP:0005490 ridging of frontal suture HP:0005487 prominent frontal suture HP:0005487 prominent frontal ridge HP:0005487 Ridging of metopic suture HP:0005487 Coronary artherosclerosis HP:0004929 Peripheral arterial stenosis HP:0004928 Pulmonary artery dilatation HP:0004927 Orthostatic hypotension due to autonomic dysfunction HP:0004926 Chronic lactic acidosis HP:0004925 Abnormal oral glucose tolerance HP:0004924 Abnormal glucose oral tolerance test HP:0004924 Hyperphenylalaninemia HP:0004923 Atypical hyperphenylalaninemia HP:0004922 Abnormality of magnesium homeostasis HP:0004921 Abnormal magnesium metabolism HP:0004921 Phenylpyruvic acidemia HP:0004920 Galactose intolerance HP:0004919 Hyperchloremic metabolic acidosis HP:0004918 Generalized distal tubular acidosis HP:0004916 Impairment of galactose metabolism HP:0004915 Impaired galactose metabolism HP:0004915 Recurrent infantile hypoglycemia HP:0004914 Episodic infantile hypoglycemia HP:0004914 Intermittent lactic acidemia HP:0004913 Hypophosphatemic rickets HP:0004912 Recurrent episodes of acidosis HP:0004911 Episodic metabolic acidosis HP:0004911 Renal bicarbonate wasting HP:0004910 Bicarbonate-wasting renal tubular acidosis HP:0004910 Hypokalemic hypochloremic metabolic alkalosis HP:0004909 Dysplasia of second lumbar vertebra HP:0004589 Scalloping of vertebral bodies HP:0004586 Fish vertebrae HP:0004586 Codfish vertebrae HP:0004586 Biconcave vertebral bodies HP:0004586 Biconcave vertebrae HP:0004586 Biconcave 'codfish' vertebrae HP:0004586 Irregularity of vertebral bodies HP:0004582 Increased anterior vertebral height HP:0004581 Anterior scalloping vertebral bodies HP:0004580 Anterior scalloping of vertebral bodies HP:0004580 Sclerotic vertebral endplates HP:0004576 Large joint contractures HP:0004576 Fusion of midcervical facet joints HP:0004575 Wedge-shaped 11th thoracic vertebra HP:0004573 Anterior wedging of the 11th thoracic vertebra HP:0004573 Anterior wedging of T11 HP:0004573 Widening of cervical spinal canal HP:0004571 Tall vertebral bodies HP:0004570 Increased vertebral height HP:0004570 anterior wedging HP:0004568 anterior beaking HP:0004568 Wedged vertebrae HP:0004568 Beaking of vertebral bodies HP:0004568 Beaked vertebral bodies HP:0004568 Anterior beaking of vertebral bodies HP:0004568 Anterior beaking of vertebrae HP:0004568 Pear-shaped vertebral bodies HP:0004566 Pear-shaped vertebrae HP:0004566 platyspondyly, extreme HP:0004565 Severe platyspondyly HP:0004565 increased spinal bone density Z HP:0004563 Increased spinal bone density HP:0004563 Beaking of vertebral bodies T12-L3 HP:0004562 Flattened cervical vertebral bodies HP:0004558 Cervical platyspondyly HP:0004558 Anterior vertebral fusion HP:0004557 Generalized hypertrichosis HP:0004554 Scarring alopecia of scalp HP:0004552 Pointed frontal hairline HP:0004544 Hypertrichosis universalis HP:0004540 Congenital, generalized hypertrichosis HP:0004540 Congenital generalized hypertrichosis HP:0004540 Hypertrichosis, congenital anterior cervical HP:0004535 Congenital cervical hypertrichosis HP:0004535 Anterior cervical hypertrichosis HP:0004535 Sacral hypertrichosis HP:0004532 Atrophic, patchy alopecia HP:0004529 Hypotrichosis, generalized HP:0004528 Generalized hypotrichosis HP:0004528 Large clumps of pigment irregularly distributed along hair shaft HP:0004527 Temporal hypotrichosis HP:0004524 Long eyebrows HP:0004523 Pancreatic islet-cell hypertrophy HP:0004510 Pancreatic islet-cell hyperplasia HP:0004510 Islets of langerhans hypertrophy HP:0004510 Islet of Langerhans hyperplasia HP:0004510 Hypertrophic pancreatic islets HP:0004510 Hyperplastic islets of langerhans HP:0004510 Bilateral choanal atresia HP:0004502 Chronic rhinitis due to narrow nasal airway HP:0004499 Posterior choanal atresia HP:0004496 Thin anteverted nares HP:0004495 Craniofacial hyperostosis HP:0004493 Widely patent fontanels and sutures HP:0004492 Widely patent fontanelles and sutures HP:0004492 Large posterior fontanelle HP:0004491 Large posterior fontanel HP:0004491 Calvarial hyperostosis HP:0004490 large skull present since birth HP:0004488 large head present since birth HP:0004488 large cranium present since birth HP:0004488 congenital macrocephaly HP:0004488 congenital large skull HP:0004488 congenital large head HP:0004488 congenital large cranium HP:0004488 big skull present since birth HP:0004488 big head present since birth HP:0004488 big cranium present since birth HP:0004488 Macrocephaly at birth HP:0004488 Head circumference large for gestational age HP:0004488 Acrobrachycephaly HP:0004487 skull stopped growing HP:0004485 head stopped growing HP:0004485 cranium stopped growing HP:0004485 Cessation of head growth HP:0004485 Craniofacial asymmetry HP:0004484 Relatively large head HP:0004482 Relative macrocephaly HP:0004482 Macrocephaly, relative HP:0004482 Disproportionately large head HP:0004482 Progressive macrocephaly HP:0004481 Macrocephaly, progressive HP:0004481 Ethmoidal encephalocele HP:0004478 Aplasia cutis congenita over parietal area HP:0004476 Persistent, open anterior fontanel HP:0004474 Persistent open anterior fontanelle HP:0004474 Anterior fontanelle open in adults HP:0004474 Mandibular hyperostosis HP:0004472 Aplasia cutis congenita over the scalp vertex HP:0004471 Aplasia cutis congenita of vertex HP:0004471 Atretic occipital cephalocele HP:0004470 Chronic bronchitis HP:0004469 Anomalous tracheal cartilage HP:0004468 Abnormal tracheal cartilaginous ring HP:0004468 Preauricular sinus HP:0004467 Preauricular pits HP:0004467 Preauricular pit HP:0004467 Preauricular fistulas HP:0004467 Preauricular earpits HP:0004467 Prolonged brainstem auditory evoked potentials HP:0004466 Posterior auricular sinus HP:0004464 Posterior auricular pit HP:0004464 Postauricular pit HP:0004464 No auditory brainstem response HP:0004463 Absent brainstem auditory responses HP:0004463 Posterior wedging HP:0004461 Congenital earlobe sinuses HP:0004461 External auditory canal exostoses HP:0004459 Exostosis of the external auditory canal HP:0004459 Enlarged internal auditory canal HP:0004458 Dilatated internal auditory canal HP:0004458 Bulbous internal auditory canal HP:0004458 Abnormal middle ear reflexes HP:0004454 Reduced anterior-posterior diameter of vertebral bodies HP:0004453 Overfolding of the superior helices HP:0004453 Overfolding of superior helix HP:0004453 Ossicular malformation HP:0004452 Malformed ossicles HP:0004452 Abnormality of the middle ear ossicles HP:0004452 Postauricular skin tag HP:0004451 Preauricular skin furrows HP:0004450 Preauricular skin furrow HP:0004450 Fulminant hepatic failure HP:0004448 Poikilocytosis HP:0004447 erythrocyte stomatocytes HP:0004446 Stomatocytosis HP:0004446 Red cell stomatocytosis HP:0004446 Hereditary elliptocytosis HP:0004445 Elliptocytosis HP:0004445 Spherocytosis HP:0004444 lambdoid suture synostosis HP:0004443 Lambdoidal craniosynostosis HP:0004443 Lambdoid suture craniosynostosis HP:0004443 sagittal suture synostosis HP:0004442 Sagittal craniosynostosis HP:0004442 Craniosynostosis, sagittal suture HP:0004442 Craniosynostosis, sagittal HP:0004442 coronal suture synostosis HP:0004440 coronal suture craniosynostosis HP:0004440 Craniosynostosis (coronal) HP:0004440 Coronal craniosynostosis HP:0004440 Craniofacial dysostosis HP:0004439 Hyperostosis frontalis interna HP:0004438 Hyperostosis of cranial vault HP:0004437 Cranial hyperostosis HP:0004437 C8 deficiency HP:0004434 Secretory IgA deficiency HP:0004433 Agammaglobulinemia HP:0004432 Agammaglobulinaemia HP:0004432 Complement deficiency HP:0004431 Severe combined immunodeficiency HP:0004430 Immunodeficiency, severe combined HP:0004430 Recurrent viral infections HP:0004429 Elfin facies HP:0004428 Abnormality of the cheeks HP:0004426 Abnormality of the cheek HP:0004426 Flattened forehead HP:0004425 Flat forehead HP:0004425 Cranium bifidum occultum HP:0004423 Biparietal narrowing HP:0004422 Elevated systolic blood pressure HP:0004421 Arterial thrombosis HP:0004420 Recurrent thrombosis HP:0004419 Recurrent thrombophlebitis HP:0004419 Recurrent phlebitis HP:0004419 Thrombophlebitis HP:0004418 Intermittent claudication HP:0004417 Premature atherosclerosis HP:0004416 Precocious atherosclerosis HP:0004416 Pulmonary artery stenosis HP:0004415 Abnormality of the pulmonary artery HP:0004414 Deviated nasal septum HP:0004411 Sense of smell impaired HP:0004409 Hyposmia HP:0004409 Decreased smell sensation HP:0004409 Smell defect HP:0004408 Abnormality of the sense of smell HP:0004408 Abnormality of olfaction HP:0004408 Abnormal sense of smell HP:0004408 Pseudocoarctation of the aorta HP:0005295 Arterial dissection HP:0005294 Venous insufficiency HP:0005293 Intimal thickening in the coronary arteries HP:0005292 Inflammatory arteriopathy HP:0005291 Internal carotid artery hypoplasia HP:0005290 Abnormality of the nasolabial region HP:0005289 Abnormality of the nostrils HP:0005288 Abnormality of the nares HP:0005288 Absent nasal bridge HP:0005285 Hypoplastic nasal bridge HP:0005281 Low nasal root HP:0005280 Low nasal bridge HP:0005280 Flattened nasal bridge HP:0005280 Flat, nasal bridge HP:0005280 Flat nasal root HP:0005280 Flat nasal bridge HP:0005280 Depressed nasal root/bridge HP:0005280 Depressed nasal root HP:0005280 Depressed nasal bridge HP:0005280 Hypoplastic nasal tip HP:0005278 Cartilaginous ossification of nose HP:0005275 Prominent nasal tip HP:0005274 Absent nasal septum HP:0005273 Absent nasal septal cartilage HP:0005273 Prominent nasolabial fold HP:0005272 Nasolabial crease, prominent HP:0005272 Spontaneous abortion HP:0005268 Premature delivery because of cervical insufficiency or membrane fragility HP:0005267 Intestinal polyps HP:0005266 Intestinal polyp HP:0005266 Abnormality of the jejunum HP:0005265 Anomaly of the gallbladder HP:0005264 Abnormality of the gallbladder HP:0005264 Gastritis HP:0005263 Abnormality of the synovia HP:0005262 Spontaneous joint hemorrhage HP:0005261 Joint hemorrhage HP:0005261 Joint haemorrhage HP:0005261 Hemarthrosis HP:0005261 Hemarthroses HP:0005261 Abnormal facility in opposing the shoulders HP:0005259 Pectoral muscle hypoplasia/aplasia HP:0005258 Thoracic hypoplasia HP:0005257 Small thorax HP:0005257 Small chest HP:0005257 Unilateral aplasia of pectoralis major muscle HP:0005256 Unilateral absence of pectoralis major muscle HP:0005256 Pectoralis minor aplasia HP:0005255 Absence of pectoralis minor muscle HP:0005255 Unilateral chest hypoplasia HP:0005254 Increased anterioposterior diameter of thorax HP:0005253 Increased anterioposterior diameter of chest HP:0005253 High intestinal obstruction HP:0005250 Functional intestinal obstruction HP:0005249 Intrahepatic biliary atresia HP:0005248 Intrahepatic atresia of biliary duct HP:0005248 Hypoplasia of the abdominal wall musculature HP:0005247 Abdominal muscular hypoplasia HP:0005247 Menetrier disease HP:0005246 Giant hypertrophic gastritis HP:0005246 Intestinal hypoplasia HP:0005245 Hypoplastic intestines HP:0005245 Gastrointestinal infarctions HP:0005244 Partial abdominal muscle agenesis HP:0005243 Extrahepatic biliary duct atresia HP:0005242 Biliary atresia, extrahepatic HP:0005242 Total intestinal aganglionosis HP:0005241 Esophageal obstruction HP:0005240 Discrete intestinal polyps HP:0005238 Degenerative liver disease HP:0005237 Chronic calcifying pancreatitis HP:0005236 Jejunal atresia HP:0005235 Neonatal intestinal obstruction HP:0005234 Hypoplastic gallbladder HP:0005233 Hypoplasia of the gallbladder HP:0005233 Pancreatic dysplasia HP:0005232 Chronic gastritis HP:0005231 Biliary tract obstruction HP:0005230 Jejunoileal ulceration HP:0005229 Multiple colonic adenomatous polyps HP:0005227 Multiple adenomatous colon polyps HP:0005227 Adenomatous colonic polyposis HP:0005227 Intestinal edema HP:0005225 Rectal abscess HP:0005224 Perirectal abscess HP:0005224 Duplicated colon HP:0005223 Bowel diverticulosis HP:0005222 Bowel diverticula HP:0005222 Multiple intestinal neurofibromatosis HP:0005220 Intrinsic factor absent from gastric juice HP:0005219 Absence of intrinsic factor HP:0005219 Anoperineal fistula HP:0005218 Duplication of internal organs HP:0005217 Chewing difficulties HP:0005216 Frequent Giardia lamblia infestation HP:0005215 Intestinal obstruction HP:0005214 Pancreatic calcifications HP:0005213 Pancreatic calcification HP:0005213 Anal mucosal leukoplakia HP:0005212 Midgut malrotation HP:0005211 Hypoplastic colon HP:0005210 Hypoplasia of the colon HP:0005210 Intrahepatic bile duct cysts HP:0005209 Secretory diarrhea HP:0005208 Gastric hypertrophy HP:0005207 Pancreatic pseudocyst HP:0005206 Spontaneous esophageal rupture HP:0005203 Spontaneous esophageal perforation HP:0005203 Boerhaave syndrome HP:0005203 Helicobacter pylori infection HP:0005202 Anomalous splenoportal venous system HP:0005201 Retroperitoneal fibrosis HP:0005200 Aplasia of the abdominal wall musculature HP:0005199 Absent abdominal musculature HP:0005199 Stiff interphalangeal joints HP:0005198 Generalized morning stiffness HP:0005197 Polyarticular arthropathy HP:0005195 Flattened metatarsal heads HP:0005194 Restricted large joint movement HP:0005193 Congenital knee dislocation HP:0005191 Proximal finger joint hyperextensibility HP:0005190 Progressive joint destruction HP:0005187 Synovial hypertrophy HP:0005186 Global systolic dysfunction HP:0005185 Prolonged QTc interval HP:0005184 Pericardial lymphangiectasia HP:0005183 Bicuspid pulmonary valve HP:0005182 Premature coronary artery disease HP:0005181 Tricuspid regurgitation HP:0005180 Tricuspid insufficiency HP:0005180 Complete heart block with narrow QRS complexes HP:0005178 Premature arteriosclerosis HP:0005177 Dysplastic aortic valve HP:0005176 Membranous subvalvular aortic stenosis HP:0005174 Calcific aortic valve stenosis HP:0005173 Aortic stenosis due to calcifications HP:0005173 Left postterior fascicular block HP:0005172 Left posterior hemiblock HP:0005172 Complete heart block with broad RS complexes HP:0005170 Elevated right atrial pressure HP:0005168 Shortened PR interval on EKG HP:0005165 Shortened PR interval HP:0005165 Short P-R interval HP:0005165 Electrocardiographic short PR interval HP:0005165 Dysplastic pulmonary valve HP:0005164 Left ventricular impairment HP:0005162 Bony paranasal bossing HP:0004407 Spontaneous, recurrent epistaxis HP:0004406 Recurrent epistaxis HP:0004406 Recurrent epistaxes HP:0004406 Prominent nipples HP:0004405 Abnormality of the nipple HP:0004404 Proximal esophageal atresia HP:0004403 Meconium ileus on ultrasonography HP:0004401 Meconium ileus in neonates HP:0004401 Meconium ileus HP:0004401 Distal intestinal obstruction syndrome HP:0004401 Abnormality of the pylorus HP:0004400 Congenital pyloric atresia HP:0004399 Peptic ulcer HP:0004398 Ectopic anus HP:0004397 Anus malposition HP:0004397 Poor appetite HP:0004396 Malnutrition HP:0004395 Multiple gastric polyps HP:0004394 Prune belly HP:0004392 Hamartomatous polyps HP:0004390 Hamartomatous polyposis HP:0004390 Gastrointestinal hamartomatous polyps HP:0004390 Intestinal pseudo-obstruction HP:0004389 Microcolon on contrast enema HP:0004388 Microcolon HP:0004388 Hypoaldosteronism HP:0004319 Decreased aldosterone production HP:0004319 Reduced IgG levels HP:0004315 IgG deficiency HP:0004315 Decreased serum IgG HP:0004315 Decreased immunoglobulin G HP:0004315 Decreased gamma-globin expression HP:0004315 Decreased IgG level HP:0004315 Reduced immunoglobulin levels HP:0004313 Immunoglobulin deficiency HP:0004313 Hypogammaglobulinemia HP:0004313 Decreased serum immunoglobulin HP:0004313 Decreased immunoglobulin level HP:0004313 Decreased antibody level in blood HP:0004313 Abnormality of reticulocytes HP:0004312 Abnormality of macrophages HP:0004311 Abnormality of histiocytes HP:0004311 Ventricular preexcitation HP:0004309 Ventricular pre-excitation HP:0004309 Preexcitation HP:0004309 Pre-excitation syndrome HP:0004309 Ventricular arrhythmias HP:0004308 Ventricular arrhythmia HP:0004308 Abnormal anatomic location of the heart HP:0004307 Abnormality of the endomycoardium HP:0004306 Abnormality of the endocardium HP:0004306 Involuntary muscle contractions HP:0004305 Involuntary movements HP:0004305 Abnormality of muscle fibers HP:0004303 Abnormal skeletal muscle fiber morphology HP:0004303 Functional motor problems HP:0004302 Hernia of the abdominal wall HP:0004299 Abnormality of the abdominal wall HP:0004298 Abnormality of external features of the abdomen HP:0004298 Abnormality of the biliary system HP:0004297 Abnormality of gastrointestinal vasculature HP:0004296 Abnormality of the gastric mucosa HP:0004295 Subluxation of metacarpal phalangeal joints HP:0004294 Synostosis of second metacarpal-trapezoid HP:0004293 Fusion of second metacarpal-trapezoid HP:0004293 Undermodelled hand bones HP:0004292 Stippled calcification of hand bones HP:0004291 Sclerosis of hand bones with transverse striations HP:0004290 Sclerotic foci in hand bones HP:0004289 Pseudoepiphyses of hand bones HP:0004288 Pointed hand bones HP:0004287 Patchy sclerosis of hand bones HP:0004286 Overmodelled hand bones HP:0004285 Notched hand bones HP:0004284 Narrow palm HP:0004283 Narrow hands HP:0004283 Narrow hand HP:0004283 Irregular sclerosis of hand bones HP:0004281 Irregular ossification of hand bones HP:0004280 Short palms HP:0004279 Short palm HP:0004279 Short hands HP:0004279 Hypoplastic hands HP:0004279 Synostosis involving bones of the hand HP:0004278 Fused hand bones HP:0004278 Fractured hand bones HP:0004277 Exostoses of hand bones HP:0004276 Duplication of hand bones HP:0004275 Deficient ossification of hand bones HP:0004274 Cupped metaphyses of hand bones HP:0004273 Cortical thinning of hand bones HP:0004272 Cortical thickening of hand bones HP:0004271 Subluxation of the small joints of the hand HP:0004269 Osteoarthritis of the small joints of the hand HP:0004268 Narrow small joints of the hand HP:0004267 Narrow carpal joint spaces HP:0004264 Decreased carpal joint angles HP:0004264 Large capitate bone HP:0004263 Abnormality of the capitate bone HP:0004262 Wide hamate bone HP:0004261 Broad hamate bone HP:0004261 Large hamate bone HP:0004260 Abnormality of the hamate bone HP:0004259 Small trapezoid bone HP:0004258 Delayed ossification of the trapezoid bone HP:0004257 Delayed maturation of the trapezoid bone HP:0004257 Abnormality of the trapezoid bone HP:0004256 Small trapezium HP:0004255 Delayed ossification of the trapezium HP:0004254 Delayed maturation of the trapezium HP:0004254 Absent trapezium bone HP:0004253 Absent trapezium HP:0004253 Abnormality of the trapezium HP:0004252 Lunate-triquetral fusion HP:0004251 Proximally placed lunate HP:0004250 Accessory lunate HP:0004249 Abnormality of the lunate bone HP:0004248 Small scaphoid HP:0004247 Delayed ossification of the scaphoid HP:0004246 Delayed maturation of the scaphoid HP:0004246 Comma-shaped scaphoid HP:0004245 Accessory scaphoid HP:0004244 Abnormality of the scaphoid HP:0004243 Wide carpal bones HP:0004242 Broad carpal bones HP:0004242 Stippled calcification in carpal bones HP:0004241 Punctate calcifications of carpals HP:0004241 Sclerotic foci within carpal bones HP:0004240 Proximally placed carpal bones HP:0004239 Lytic defects of carpal bones HP:0004238 Large carpals HP:0004237 Large carpal bones HP:0004237 Irregular carpal bones HP:0004236 Comma-shaped carpal bones HP:0004235 Bone-in-a-bone appearance of carpal bones HP:0004234 Precociously ossified carpal bones HP:0004233 Advanced ossification of carpal bones HP:0004233 Advanced carpal ossification HP:0004233 Advanced carpal bone age HP:0004233 Accelerated carpal bone maturation HP:0004233 Supernumerary carpal bones HP:0004232 Accessory carpal bones HP:0004232 Carpal bone aplasia HP:0004231 Aplastic carpal bone HP:0004231 Absent carpal ossification center HP:0004231 Absent carpal bones HP:0004231 Absent carpal bone HP:0004231 Subluxation of the proximal interphalangeal joint of the little finger HP:0004230 Short distal phalanx of the fifth finger HP:0004227 Short distal phalanx of the 5th finger HP:0004227 Hypoplastic/small terminal phalanx of the little finger HP:0004227 Fifth digit distal phalangeal hypoplasia HP:0004227 Brachytelophalangism V HP:0004227 Curved terminal phalanx of the little finger HP:0004226 Curved distal phalanx of the 5th finger HP:0004226 Abnormality of the terminal phalanx of the little finger HP:0004225 Abnormality of the distal phalanx of the little finger HP:0004225 Abnormality of the distal phalanx of the 5th finger HP:0004225 Abnormality of the epiphysis of the middle phalanx of the 5th finger HP:0004224 Ivory epiphysis of the terminal phalanx of the little finger HP:0004223 Ivory epiphysis of the distal phalanx of the little finger HP:0004223 Ivory epiphysis of the distal phalanx of the 5th finger HP:0004223 Cone-shaped epiphysis of the distal phalanx of the little finger HP:0004222 Cone-shaped epiphysis of the distal phalanx of the 5th finger HP:0004222 Short middle phalanx of the little finger HP:0004220 Short middle phalanx of the 5th finger HP:0004220 Hypoplastic/small middle phalanx of the little finger HP:0004220 Hypoplastic/small middle phalanx of the 5th finger HP:0004220 Hypoplastic middle phalanx (5th finger) HP:0004220 Hypoplastic fifth finger middle phalanx HP:0004220 Fifth finger mid-phalanx hypoplasia HP:0004220 Brachymesophalangism V HP:0004220 5th finger middle phalangeal hypoplasia HP:0004220 Abnormality of the middle phalanx of the 5th finger HP:0004219 Symphalangism of the 5th finger HP:0004218 Symphalagism of the little finger HP:0004218 Osteolytic defects of the phalanges of the 5th finger HP:0004216 Lytic defects of the phalanges of the little finger HP:0004216 Curved phalanges of the 5th finger HP:0004214 Abnormality of the phalanges of the 5th finger HP:0004213 Fifth finger clinodactyly HP:0004209 Clinodactyly of the little finger HP:0004209 Clinodactyly of the 5th finger HP:0004209 Clinodactyly of fifth digit HP:0004209 Bilateral fifth finger clinodactyly HP:0004209 Bilateral fifth digit clinodactyly HP:0004209 Abnormality of the little finger HP:0004207 Abnormality of the 5th finger HP:0004207 obsolete Short proximal phalanx of the ring finger HP:0004203 obsolete Lytic defects of the proximal phalanx of the ring finger HP:0004202 obsolete Expanded proximal phalanx of the ring finger HP:0004201 obsolete Wide/broad phalanges of the ring finger HP:0004198 Symphalangism of the ring finger HP:0004197 Symphalangism of the 4th finger HP:0004197 obsolete Short phalanges of the ring finger HP:0004196 Osteolytic defects of the phalanges of the 4th finger HP:0004195 Lytic defects of the phalanges of the ring finger HP:0004195 obsolete Hypoplastic phalanges of the ring finger HP:0004194 obsolete Expanded phalanges of the ring finger HP:0004193 obsolete Bracket epiphyses of the 4th finger HP:0004192 Bracket epiphyses of the ring finger HP:0004192 Abnormality of the ring finger HP:0004188 Abnormality of the 4th finger HP:0004188 obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger HP:0004187 obsolete Large epiphysis of terminal phalanx of the middle finger HP:0004186 obsolete Fused epiphysis of terminal phalanx of the middle finger HP:0004185 obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger HP:0004184 obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger HP:0004183 Short terminal phalanx of middle finger HP:0004180 Short distal phalanx of the third finger HP:0004180 Short distal phalanx of the 3rd finger HP:0004180 Hypoplastic/small distal phalanx of the 3rd finger HP:0004180 obsolete Periosteal new bone of middle phalanx of middle-finger HP:0004175 obsolete Accessory middle phalanx of middle finger HP:0004174 Abnormality of the middle phalanx of the 3rd finger HP:0004172 Hypernatremic dehydration HP:0004906 Vitamin A deficiency HP:0004905 Maturity-onset diabetes of the young HP:0004904 Maturity onset diabetes of the young HP:0004904 MODY HP:0004904 Congenital lactic acidosis HP:0004902 Exercise-induced lactic acidemia HP:0004901 Severe lactic acidosis HP:0004900 Persistent lactic acidosis HP:0004898 Stress/infection-induced lactic acidosis HP:0004897 Laryngotracheal stenosis HP:0004894 Recurrent infections due to aspiration HP:0004891 increased pulmonary artery pressure HP:0004890 Elevated pulmonary artery pressure HP:0004890 Intermittent episodes of respiratory insufficiency due to muscle weakness HP:0004889 Respiratory failure requiring assisted ventilation HP:0004887 Congenital laryngeal stridor HP:0004886 respiratory distress, episodic HP:0004885 Episodic respiratory distress HP:0004885 Episodic hypoventilation HP:0004881 Pyropoikilocytosis HP:0004839 Acute promyelocytic leukemia HP:0004836 Microspherocytosis HP:0004835 Recurrent thromboembolism HP:0004831 Recurrent thromboembolic disease HP:0004831 Refractory anemia with ringed sideroblasts HP:0004828 Myelodysplasia with sideroblastosis HP:0004828 Folate-unresponsive megaloblastic anemia HP:0004826 Increased hemoglobin oxygen affinity HP:0004825 Increased haemoglobin oxygen affinity HP:0004825 Anisopoikilocytosis HP:0004823 Atypical elliptocytosis HP:0004822 Hypersegmentation of neutrophil nuclei HP:0004821 Acute myelomonocytic leukemia HP:0004820 Normocytic hypoplastic anemia HP:0004819 Paroxysmal nocturnal hemoglobinuria HP:0004818 Drug-sensitive hemolytic anemia HP:0004817 Hemolytic anemia following ingestion of fava beans HP:0004814 Fava bean-induced hemolytic anemia HP:0004814 Post-transfusion thrombocytopenia HP:0004813 Post-transfusion purpura HP:0004813 Pre-B-cell acute lymphoblastic leukemia HP:0004812 Congenital hypoplastic anemia HP:0004810 Congenital dyserythropoietic anemia HP:0004810 Neonatal alloimmune thrombocytopenia HP:0004809 Acute myeloid leukemia HP:0004808 Acute myelogenous leukemia HP:0004808 Acute myelocytic leukemia HP:0004808 Acute myeloblastic leukemia HP:0004808 Neonatal hemolytic anemia HP:0004804 Congenital hemolytic anemia HP:0004804 Congenital haemolytic anemia HP:0004804 Episodic hemolytic anemia HP:0004802 Episodic hemolysis HP:0004802 Duodenal diverticula HP:0004800 Jejunoileal diverticula HP:0004799 Recurrent infection of the gastrointestinal tract HP:0004798 Recurrent gastrointestinal infections HP:0004798 Gastrointestinal infections, recurrent HP:0004798 Gastrointestinal infections HP:0004798 Multiple small bowel atresias HP:0004797 Gastrointestinal obstruction HP:0004796 Hamartomatous stomach polyps HP:0004795 Malrotation of the small intestine HP:0004794 Malrotation of small bowel HP:0004794 Rectoperineal fistula HP:0004792 Esophageal ulceration HP:0004791 Hypoplasia of the small intestine HP:0004790 Lactose intolerance HP:0004789 Intestinal lymphedema HP:0004788 Fulminant hepatitis HP:0004787 Jejunal diverticula HP:0004786 Malrotation of colon HP:0004785 Juvenile gastrointestinal polyposis HP:0004784 Multiple duodenal polyps HP:0004783 Duodenal polyposis HP:0004783 Scalp hypotrichosis HP:0004782 Hypotrichosis on scalp HP:0004782 Hypotrichosis of the scalp HP:0004782 Elbow hypertrichosis HP:0004780 Brittle scalp hair HP:0004779 Premature graying of body hair HP:0004771 Sparse anterior scalp hair HP:0004768 Myxomatous mitral valve degeneration HP:0004764 Paroxysmal supraventricular tachycardia HP:0004763 Episodic supraventricular tachycardia HP:0004763 Hypoplasia of right ventricle HP:0004762 Post-angioplasty coronary artery restenosis HP:0004761 Congenital septal defects HP:0004760 Congenital septal defect HP:0004760 Nodular calcific aortic valve disease HP:0004759 Effort-induced polymorphic ventricular tachycardias HP:0004758 Paroxysmal atrial fibrillation HP:0004757 Atrial fibrillation, paroxysmal HP:0004757 Ventricular tachycardia HP:0004756 Supraventricular tachycardia HP:0004755 Supraventricular tachyarrhythmia HP:0004755 Permanent atrial fibrillation HP:0004754 Chronic atrial fibrillation HP:0004754 Congenital atrioventricular dissociation HP:0004752 Paroxysmal ventricular tachycardia HP:0004751 Atrial flutter HP:0004749 Membranoproliferative glomerulonephritis type II HP:0004746 Dense deposit disease HP:0004746 Chronic tubulointerstitial nephritis HP:0004743 Renal collecting system anomalies HP:0004742 Abnormality of the renal collecting system HP:0004742 Abnormal collecting system HP:0004742 Global glomerulosclerosis HP:0004737 Ectopic kidney with fusion HP:0004736 Crossed fused renal ectopia HP:0004736 Renal cortical microcysts HP:0004734 Multiple small renal cortical cysts HP:0004734 Multiple renal cortical microcysts HP:0004734 Cortical microcysts HP:0004734 Impaired renal uric acid clearance HP:0004732 Acute tubulointerstitial nephritis HP:0004729 Urine concentration defect HP:0004727 Urine concentrating defect HP:0004727 Impaired renal concentrating ability HP:0004727 Calcium nephrolithiasis HP:0004724 Thickening of the glomerular basement membrane HP:0004722 Hyperechogenic kidneys HP:0004719 Axial malrotation of the kidney HP:0004717 Reversible renal failure HP:0004713 Renal malrotation HP:0004712 Malrotation of the kidney HP:0004712 Abnormal rotation of the kidneys HP:0004712 Short fifth metatarsal HP:0004704 Hypoplasia of the fifth metatarsal bone HP:0004704 Osteoporotic metatarsal HP:0004699 Talipes cavus equinovarus HP:0004696 Calcaneal epiphyseal stippling HP:0004695 Syndactyly of toes 4 and 5 HP:0004692 Symmetric syndactyly, toes 4 and 5 HP:0004692 4-5 toe syndactyly HP:0004692 partial or complete syndactyly 2nd-3rd toes HP:0004691 Toe syndactyly, 2-3 HP:0004691 Syndactyly of second and third toes HP:0004691 Syndactyly (2-3) (feet) HP:0004691 Cutaneous syndactyly of second and third toes HP:0004691 Cutaneous 2,3 toe syndactyly HP:0004691 Complete cutaneous syndactyly of second and third toes HP:0004691 2-3 toes syndactyly HP:0004691 2-3 toe syndactyly HP:0004691 2-3 toe soft tissue syndactyly HP:0004691 Thickened Achilles tendon HP:0004690 Short fourth metatarsus HP:0004689 Short fourth metatarsals HP:0004689 Short fourth metatarsal HP:0004689 Bilateral fourth metatarsal shortening HP:0004689 Irregular tarsal bones HP:0004688 Short third metatarsal HP:0004686 Hypoplasia of the 3rd metatarsal bone HP:0004686 Talipes valgus HP:0004684 Longitudinal groove on soles HP:0004681 Deep longitudinal plantar crease HP:0004681 Large tarsal bones HP:0004679 Prominent supraorbital arches in adult HP:0004676 Decreased facial expression HP:0004673 Facial midline hemangioma HP:0004664 Weak frontalis muscle HP:0004661 Frontalis muscle weakness HP:0004661 Hypoplasia of facial musculature HP:0004660 Nasal bone hypoplasia HP:0004646 Hypoplasia of the nasal bone HP:0004646 Elevated amniotic fluid alpha-fetoprotein HP:0004639 Decreased cervical spine mobility HP:0004637 Cervical vertebrae fusion (C5/C6) HP:0004635 Cuboid-shaped vertebral bodies HP:0004634 Cuboid vertebral bodies HP:0004634 Lower thoracic kyphosis HP:0004633 Cervical spine segmentation defect HP:0004632 Cervical segmentation defect HP:0004632 Decreased cervical spine flexion due to contractures of posterior cervical muscles HP:0004631 Contracture of post-cervical muscles HP:0004631 Anterior beaking of thoracic vertebrae HP:0004630 Small cervical vertebral bodies HP:0004629 Small cervical vertebrae HP:0004629 Lumbar scoliosis HP:0004626 Biconvex vertebral bodies HP:0004625 Progressive intervertebral space narrowing HP:0004622 Enlarged vertebral pedicles HP:0004621 Lumbar kyphoscoliosis HP:0004619 Sandwich appearance of vertebral bodies HP:0004618 Butterfly vertebral arch HP:0004617 Cleft vertebral arches HP:0004616 Cleft vertebral arch HP:0004616 Spina bifida occulta at S1 HP:0004614 Anteriorly concave vertebrae HP:0004611 Anterior concavity of thoracic vertebrae HP:0004611 Narrow lumbar spinal canal HP:0004610 Lumbar spinal stenosis HP:0004610 Lumbar spinal canal stenosis HP:0004610 Patchy distortion of vertebrae HP:0004609 Anteriorly placed odontoid process HP:0004608 Anterior beaking of lower thoracic vertebrae HP:0004607 Unossified vertebral bodies HP:0004606 Absent vertebral body mineralization HP:0004605 Hyperconvex vertebral body endplates HP:0004603 Klippel-Feil syndrome HP:0004602 Fusion of cervical vertebrae c2-3 HP:0004602 Cervical vertebral fusion (C2/C3) HP:0004602 Spina bifida occulta at L5 HP:0004601 Absent or minimally ossified vertebral bodies HP:0004599 Supernumerary vertebral ossification centers HP:0004598 Hump-shaped mound of bone in central and posterior portions of vertebral endplate HP:0004594 Thoracic platyspondyly HP:0004592 Disc-like vertebral bodies HP:0004591 Hypoplastic sacrum HP:0004590 obsolete Radially pointed proximal middle-finger phalanx HP:0004168 obsolete Radially pointed middle finger phalanges HP:0004162 obsolete Periosteal new bone of middle finger phalanges HP:0004161 obsolete Accessory middle-finger phalanges HP:0004157 obsolete Overgrowth of middle finger HP:0004153 Abnormality of the middle finger HP:0004150 Abnormality of the 3rd finger HP:0004150 obsolete Duplication of terminal index finger phalanx HP:0004144 obsolete Radially deviated terminal index finger phalanx HP:0004143 obsolete Flared metaphysis of middle phalanx of index finger HP:0004139 obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger HP:0004138 Dimple on nasal tip HP:0004132 Midline defect of the nose HP:0004122 obsolete Radially displaced proximal index finger phalanx HP:0004121 Midline nasal groove HP:0004112 obsolete Radially deviated index finger phalanges HP:0004110 Radially displaced index finger phalanges HP:0004110 Abnormality of the 2nd finger HP:0004100 Abnormality of index finger HP:0004100 Megalodactyly HP:0004099 Macrodactyly HP:0004099 Finger overgrowth HP:0004099 Deviation of finger HP:0004097 Deviated fingers HP:0004097 Curved fingers HP:0004095 obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis HP:0004090 Dysharmonic maturation of the hand bones HP:0004053 Disharmonic maturation of the hand bones HP:0004053 Delayed ossification of the hand bones HP:0004052 Delayed maturation of the hand bones HP:0004052 Delay maturation/delayed ossification of the hand HP:0004052 Advanced ossification of the hand bones HP:0004051 Advanced maturation of the hand bones HP:0004051 Acheiria HP:0004050 Absent hand HP:0004050 Decreased carpal angles of wrist HP:0004049 Narrow joint spaces of wrist HP:0004048 Wide ulnar metaphysis HP:0004047 Broad ulnar metaphysis HP:0004047 Spurred ulnar metaphysis HP:0004046 Sloping ulnar metaphysis HP:0004045 Pointed ulnar metaphysis HP:0004044 Lytic defects of ulnar metaphysis HP:0004043 Ulnar metaphyseal irregularity HP:0004042 Irregular ulnar metaphysis HP:0004042 Cupped ulnar metaphysis HP:0004041 Corner fragments of ulnar metaphysis HP:0004040 Abnormality of ulnar metaphysis HP:0004039 Bony spikule of ulnar epiphyseal plate HP:0004038 Abnormality of the ulnar epiphyses HP:0004037 Abnormality of the epiphyseal plate of the ulna HP:0004037 Long styloid process of ulna HP:0004036 Abnormality of the styloid process of ulna HP:0004035 Irregular olecranon HP:0004034 Curved olecranon HP:0004033 Abnormality of the olecranon HP:0004032 Wide radial diaphysis HP:0004031 Broad radial diaphysis HP:0004031 Patchy sclerosis of radial diaphysis HP:0004030 Lytic defects of radial diaphysis HP:0004029 Spurs of radial diaphysis HP:0004028 Abnormality of radial diaphysis HP:0004027 Wide radial metaphysis HP:0004026 Broad radial metaphysis HP:0004026 Spurred radial metaphysis HP:0004025 Medially sloping radial metaphysis HP:0004024 Sloping radial metaphysis HP:0004023 Sclerotic radial metaphysis with longitudinal striations HP:0004022 Lytic defects of radial metaphysis HP:0004021 Irregular ossification of the radial metaphysis HP:0004020 Radial metaphyseal irregularity HP:0004019 Irregular radial metaphysis HP:0004019 Flared radial metaphysis HP:0004018 Exostoses of the radial metaphysis HP:0004017 Cupped radial metaphyses HP:0004016 Abnormality of radial metaphyses HP:0004015 Wide radial epiphyseal plates HP:0004014 Broad radial epiphyseal plate HP:0004014 Medially fused radial epiphyseal plates HP:0004013 Premature fusion of the radial epiphyseal plates HP:0004012 Small radial epiphyses HP:0004010 Medially sloping radial epiphyses HP:0004009 Sloping radial epiphyses HP:0004008 Sclerotic radial epiphyses HP:0004007 Round radial epiphyses HP:0004006 Large radial epiphyses HP:0004005 Irregular radial epiphyses HP:0004004 Medially flattened radial epiphyses HP:0004003 Flattened radial epiphyses HP:0004002 Medially deficient radial epiphyses HP:0004001 Chevron-shaped/cone-shaped radial epiphyses HP:0004000 Abnormality of radial epiphyses HP:0003999 Abnormality of radial epiphyseal plates HP:0003999 Constricted radial neck HP:0003998 Small radial head HP:0003997 Hypoplastic radial head HP:0003997 Flattened radial head HP:0003996 Deformity of radial heads HP:0003995 Abnormality of the radial head HP:0003995 Dislocations of the wrists HP:0003994 Dislocated wrist HP:0003994 Wide ulna HP:0003993 Broad ulna HP:0003993 Slender ulna HP:0003992 Sclerotic ulna HP:0003991 Osteosclerosis of the ulna HP:0003991 Pointed ulna HP:0003990 Notched ulna HP:0003989 Long ulna HP:0003988 Disproportionately long ulnae HP:0003988 Fractured ulna HP:0003987 Exostoses of the radius HP:0003986 Exostoses of the ulna HP:0003985 Posteriorly dislocated ulna HP:0003984 Aplasia of the ulna HP:0003982 Absent ulnae HP:0003982 Absent ulna HP:0003982 Absent ossification/absent ulna HP:0003982 Wide radius HP:0003981 Broad radius HP:0003981 Pseudarthrosis of the radius HP:0003980 Lytic defects of the radius HP:0003979 Fractured radius HP:0003978 Deformed radius HP:0003977 Constricted radius HP:0003976 Chevron-shaped/cone-shaped radius HP:0003975 absence of radius and ulna HP:0003974 Radial aplasia HP:0003974 Aplasia of the radius HP:0003974 Absent radius HP:0003974 Absent ossification/absence of radius HP:0003974 Wide radioulnar joints HP:0003973 Broad radioulnar joints HP:0003973 Wide forearm bones HP:0003971 Broad forearm bones HP:0003971 Undermodelled forearm bones HP:0003970 Slender forearm bones HP:0003969 Sclerotic forearm bones HP:0003967 Sclerotic foci in forearm bones HP:0003966 Pseudarthrosis of the forearm bones HP:0003965 Osteoporotic forearm bones HP:0003964 Lytic defects of the forearm bones HP:0003963 Fractured forearm bones HP:0003961 Exostoses of the forearm bones HP:0003960 Deformed forearm bones HP:0003959 Cross-fusion of the forearm bones HP:0003958 Cortical thickening of the forearm bones HP:0003957 Bowed forearm bones HP:0003956 Bone-in-a-bone appearance (forearm) HP:0003955 Angulated forearm bones HP:0003954 Aplasia of the forearm bones HP:0003953 Absent forearm bone HP:0003953 Vertical linear mixed lucent and sclerotic pattern of metaphyses HP:0003952 Sclerotic foci of metaphyses of the elbow HP:0003952 Irregular metaphyses (elbow) HP:0003951 Distal humeral metaphyseal irregularity HP:0003951 Flared metaphyses (elbow) HP:0003950 Abnormality of the elbow metaphyses HP:0003949 Irregular epiphyses of the elbow HP:0003948 Delayed elbow epiphyseal ossification HP:0003947 Abnormality of the epiphyses of the elbow HP:0003946 Irregular articular surfaces of the elbow joints HP:0003945 Narrow joint spaces of the elbow HP:0003944 Abnormality of the joint spaces of the elbow HP:0003943 Synovial chondromatosis of the elbow HP:0003942 Stippled calcification of the elbow HP:0003941 Osteoarthritis of the elbow HP:0003940 Humeroulnar synostosis HP:0003939 Humeral ulnar synostosis HP:0003939 Synostosis involving the elbow HP:0003938 Wide humeral diaphysis HP:0003935 Broad humeral diaphysis HP:0003935 Slender humeral diaphysis HP:0003934 Sclerosis of humeral diaphysis HP:0003933 Sclerotic foci of humeral diaphysis HP:0003932 Periosteal new bone (humeral diaphysis) HP:0003931 Lytic defects of humeral diaphysis HP:0003930 Humeral diaphyseal lysis HP:0003930 Ground glass opacity of humeral diaphysis HP:0003929 Cortical thickening of humeral diaphysis HP:0003928 Cortical irregularity of humeral diaphysis HP:0003927 Abnormality of the humeral diaphysis HP:0003926 Stippled calcification of humeral metaphysis HP:0003924 Square humeral metaphysis HP:0003923 Spurred humeral metaphysis HP:0003922 Laterally sloping humeral metaphysis HP:0003921 Sloping humeral metaphysis HP:0003920 Sclerotic humeral metaphysis with longitudinal striations HP:0003919 Sclerotic humeral metaphysis HP:0003918 Pointed humeral metaphysis HP:0003917 Normal-density transverse bands (humerus) HP:0003916 Lytic defects of the humeral metaphysis HP:0003915 Irregular ossification of humeral metaphyses HP:0003914 Irregular humeral metaphyses HP:0003913 Humeral metaphyseal irregularity HP:0003913 Frayed humeral metaphyses HP:0003912 Wide/broad humeral metaphysis HP:0003911 Flared humerus HP:0003911 Flared humeral metaphysis HP:0003911 Expanded humeral metaphyses HP:0003910 Enlarged humeral metaphyses HP:0003910 Cortical subperiosteal resorption (humeral metaphyses) HP:0003909 Corner spurs (humeral metaphyses) HP:0003908 Abnormality of the humeral metaphyses HP:0003907 Wide humeral epiphyseal plate HP:0003906 Broad humeral epiphyseal plate HP:0003906 Abnormality of the humeral epiphyseal plate HP:0003905 Wide epiphyses of the upper limbs HP:0003904 Broad epiphyses of the upper limbs HP:0003904 Wide humeral epiphyses HP:0003903 Broad humeral epiphyses HP:0003903 Stippled ossification of the humeral epiphyses HP:0003902 Epiphyseal stippling of the humerus HP:0003902 Stippled calcification of the humeral epiphyses HP:0003901 Small humeral epiphyses HP:0003900 Round humeral epiphyses HP:0003899 Respiratory infections in early life HP:0004880 Intermittent hyperventilation HP:0004879 Intercostal muscle weakness HP:0004878 Spontaneous neonatal pneumothorax HP:0004876 Neonatal pneumothorax HP:0004876 Neonatal inspiratory stridor HP:0004875 Recurrent abdominal hernia HP:0004872 Incisional hernia HP:0004872 Perineal fistula HP:0004871 hemolytic anemia, chronic HP:0004870 Chronic hemolytic anemia HP:0004870 Impaired ADP-induced platelet aggregation HP:0004866 Refractory sideroblastic anemia HP:0004864 Compensated hemolytic anemia HP:0004863 Refractory macrocytic anemia HP:0004861 Thiamine-responsive megaloblastic anemia HP:0004860 Amegakaryocytic thrombocytopenia HP:0004859 Hyperchromic macrocytic anemia HP:0004857 Normochromic microcytic anemia HP:0004856 Reduced protein S activity HP:0004855 Protein S deficiency HP:0004855 Intermittent thrombocytopenia HP:0004854 Reduced leukocyte alkaline phosphatase HP:0004852 Low leukocyte alkaline phosphatase HP:0004852 Folate-responsive megaloblastic anemia HP:0004851 Recurrent venous thrombosis HP:0004850 Recurrent deep vein thrombosis HP:0004850 Ph-positive acute lymphoblastic leukemia HP:0004848 Protracted bleeding after surgery HP:0004846 Prolonged bleeding after surgery HP:0004846 Excessive bleeding during surgery HP:0004846 Acute monocytic leukemia HP:0004845 Acute monoblastic leukemia HP:0004845 Direct Coombs positive HP:0004844 Coombs-positive hemolytic anemia HP:0004844 Reduced factor XII activity HP:0004841 Hageman factor deficiency HP:0004841 Factor XII deficiency HP:0004841 Hypochromic, microcytic anemia HP:0004840 Hypochromic microcytic anemia HP:0004840 hereditary pyropoikilocytosis HP:0004839 Enterocolitis HP:0004387 Gastrointestinal inflammation HP:0004386 Protracted diarrhea HP:0004385 Type I truncus arteriosus HP:0004384 Type 1 truncus arteriosus HP:0004384 Hypoplastic left heart HP:0004383 Mitral valve calcification HP:0004382 Supravalvular aortic stenosis HP:0004381 Aortic valve calcification HP:0004380 Alkaline phosphytase abnormal HP:0004379 Abnormality of alkaline phosphatase activity HP:0004379 Abnormality of the anus HP:0004378 Hematological neoplasm HP:0004377 Neuroblastic tumors HP:0004376 Tumor of the nervous system HP:0004375 Neoplasm of the nervous system HP:0004375 Neoplasia of the nervous system HP:0004375 Hemiplegia/hemiparesis HP:0004374 Focal dystonia HP:0004373 Reduced consciousness/confusion HP:0004372 Lowered consciousness HP:0004372 Disturbances of consciousness HP:0004372 Abnormality of glycosaminoglycan metabolism HP:0004371 Poor temperature regulation HP:0004370 Body temperature changes HP:0004370 Abnormality of temperature regulation HP:0004370 Decreased purine levels HP:0004369 Increased purine levels HP:0004368 Abnormality of glycoprotein metabolism HP:0004367 Abnormality of glycolysis HP:0004366 Abnormality of tryptophan metabolism HP:0004365 Abnormality of nitrogen compound homeostasis HP:0004364 Abnormality of calcium homeostasis HP:0004363 Abnormality of the enteric ganglia HP:0004362 Abnormality of circulating leptin level HP:0004361 Acid base imbalance HP:0004360 Abnormality of acid-base homeostasis HP:0004360 Fatty acids abnormal HP:0004359 Abnormality of fatty-acid metabolism HP:0004359 Abnormality of fatty acid metabolism HP:0004359 Abnormality of superoxide metabolism HP:0004358 Abnormality of leucine metabolism HP:0004357 Abnormality of lysosomal metabolism HP:0004356 Abnormality of proteoglycan metabolism HP:0004355 Abnormality of carboxylic acid metabolism HP:0004354 Abnormality of pyrimidine metabolism HP:0004353 Abnormality of purine metabolism HP:0004352 Reduced bone mineral density HP:0004349 Decreased bone mineral density Z score HP:0004349 Abnormality of bone mineralisation and ossification HP:0004348 Abnormality of bone mineral density HP:0004348 Weakness of muscles of respiration HP:0004347 Abnormality of ganglioside metabolism HP:0004345 Abnormality of cerebrosidase metabolism HP:0004344 Abnormality of glycosphingolipid metabolism HP:0004343 Abnormality of galactoside metabolism HP:0004342 Abnormality of vitamin B12 metabolism HP:0004341 Abnormality of the vitamin B12 metabolism HP:0004341 Abnormality of vitamin B metabolism HP:0004340 Abnormality of B-vitamin metabolism HP:0004340 Abnormality of sulfur-containing amino acids HP:0004339 Abnormality of sulfur amino acid metabolism HP:0004339 Abnormality of aromatic amino acid family metabolism HP:0004338 Amino acid levels abnormal HP:0004337 Abnormality of amino acid metabolism HP:0004337 Myelin outfoldings HP:0004336 Irregular myelin foldings HP:0004336 Excessive focal folding of myelin sheaths HP:0004336 Skin atrophy HP:0004334 Dermal atrophy HP:0004334 Atrophic skin HP:0004334 Large vacuolated foam cells on bone marrow biopsy HP:0004333 Large vacuolated foam cells ('NP cells') on bone marrow biopsy HP:0004333 Bone-marrow foam cells HP:0004333 Bone marrow foam cells HP:0004333 Abnormality of lymphocytes HP:0004332 hypoossification of skull HP:0004331 Poorly ossified skull bones HP:0004331 Poorly ossified skull HP:0004331 Poorly mineralized skull HP:0004331 Ossification defect of skull HP:0004331 Deficient skull ossification HP:0004331 Decreased skull ossification HP:0004331 sclerosis of skull HP:0004330 sclerosis of bones of skull HP:0004330 increased calcification of skull HP:0004330 increased Mineralization of skull HP:0004330 hyperostosis of skull HP:0004330 hyperossification of skull HP:0004330 Increased skull ossification HP:0004330 Abnormality of the posterior segment of the globe HP:0004329 Abnormality of the posterior segment of the eyeball HP:0004329 Abnormality of the anterior segment of the globe HP:0004328 Abnormality of the anterior segment of the eyeball HP:0004328 Abnormality of the vitreous humor HP:0004327 Cachexia HP:0004326 Weight less than 3rd percentile HP:0004325 Low weight HP:0004325 Low body weight HP:0004325 Decreased weight HP:0004325 Decreased body weight HP:0004325 Weight gain HP:0004324 Increased body weight HP:0004324 Abnormality of habitus HP:0004323 Abnormality of body weight HP:0004323 Small stature HP:0004322 Short stature (below 3rd percentile) HP:0004322 Short stature HP:0004322 Height less than 3rd percentile HP:0004322 Decreased body height HP:0004322 Bladder fistula HP:0004321 Vaginal fistula HP:0004320 Mineralocorticoid insufficiency HP:0004319 Large humeral epiphyses HP:0003898 Irregular ossification of the humeral epiphyses HP:0003897 Irregular humeral epiphyses HP:0003896 Flattened humeral epiphyses HP:0003895 Delayed maturation/delayed ossification of the humeral epiphyses HP:0003894 Delayed humeral epiphyseal ossification HP:0003894 Advanced ossification of the humeral epiphysis HP:0003893 Advanced maturation of the humeral epiphyses HP:0003893 Absent ossification of the humeral epiphyses HP:0003892 Absent humeral epiphyseal ossification HP:0003892 Abnormality of the humeral epiphysis HP:0003891 Abnormality of the humeral epiphyses HP:0003891 Prominent deltoid tuberosities HP:0003890 Abnormality of the deltoid tuberosities HP:0003889 Flattened humeral heads HP:0003888 Abnormality of the humeral heads HP:0003887 Wide humerus HP:0003886 Broad humerus HP:0003886 Undermodeled humerus HP:0003885 Triangular humerus HP:0003884 Tapered humerus HP:0003883 Slender humerus HP:0003882 Sclerosis (humeral) HP:0003881 Humeral sclerosis HP:0003881 Sclerotic foci of the humerus HP:0003880 Sclerotic foci (humeral) HP:0003880 Cupped metaphyses of the upper limbs HP:0003848 Wide epiphyseal plates of the upper limbs HP:0003846 Broad epiphyseal plates of the upper limbs HP:0003846 Small epiphyses of the upper limbs HP:0003844 Round epiphyses of the upper limbs HP:0003843 Irregular epiphyses of the upper limbs HP:0003842 Fragmented epiphyses of the upper limbs HP:0003841 Delayed upper limb epiphyseal ossification HP:0003840 Epihyseal plate abnormality of the upper limbs HP:0003839 Abnormality of upper limb epiphysis morphology HP:0003839 Abnormality involving the epiphyses of the upper limbs HP:0003839 Soft-tissue ossification around the shoulders HP:0003837 Stippled calcification of the shoulder HP:0003836 Shoulder subluxation HP:0003835 Shoulder dislocation HP:0003834 Laterally deficient tibial plateaux HP:0003833 Abnormality of the tibial plateaux HP:0003832 Age-dependent penetrance HP:0003831 Age dependent penetrance HP:0003831 Reduced penetrance HP:0003829 Incomplete penetrance HP:0003829 Variable severity HP:0003828 Variable expressivity HP:0003828 Highly variable severity HP:0003828 Stillborn HP:0003826 Stillbirth HP:0003826 Fetal death HP:0003826 Death in childhood HP:0003819 Variable phenotypic severity HP:0003812 Variable phenotype HP:0003812 Phenotypic variability HP:0003812 Highly variable phenotype, even within families HP:0003812 Highly variable phenotype and severity HP:0003812 Highly variable phenotype HP:0003812 Highly variable clinical phenotype HP:0003812 Clinical heterogeneity HP:0003812 Neonatal lethal HP:0003811 Neonatal death HP:0003811 Late-onset distal muscle weakness HP:0003810 Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) HP:0003809 Abnormal muscle tone HP:0003808 Rimmed vacuoles HP:0003805 'rimmed' vacuoles on biopsy HP:0003805 'rimmed vacuoles' on biopsy HP:0003805 Type I muscle fiber predominance HP:0003803 Type 1 muscle fiber predominance HP:0003803 Muscle abnormality related to mitochondrial dysfunction HP:0003800 Markedly retarded bone age HP:0003799 Marked retardation in skeletal maturation HP:0003799 Marked delay in bone age HP:0003799 Nemaline rods HP:0003798 Nemaline bodies HP:0003798 Limb-girdle myopathy HP:0003797 Limb-girdle muscle atrophy HP:0003797 Irregular iliac crest HP:0003796 Short middle phalanx of toe HP:0003795 Short middle phalanges (feet) HP:0003795 Deposits immunoreactive to beta-amyloid protein HP:0003791 Minicore (multicore) myopathy HP:0003789 Type 1 and type 2 muscle fiber minicore regions HP:0003787 Decreased CSF homovanillic acid (HVA) HP:0003785 Type 1 collagen overmodification HP:0003784 Externally rotated/abducted legs HP:0003783 Eunuchoid habitus HP:0003782 Ptyalism HP:0003781 Hypersalivation HP:0003781 Excessive salivation HP:0003781 Excessive production of saliva HP:0003781 Antegonial notching of mandible HP:0003779 Underdeveloped mandibular rami HP:0003778 Short mandibular ramus HP:0003778 Short mandibular rami HP:0003778 Short body and ramus of mandible HP:0003778 flattened and twisted hair HP:0003777 Pili torti HP:0003777 Stage 5 chronic kidney disease HP:0003774 Renal failure, endstage HP:0003774 End-stage renal failure HP:0003774 End-stage renal disease HP:0003774 End stage renal failure HP:0003774 End stage renal disease HP:0003774 Chronic renal failure HP:0003774 Pulp stones HP:0003771 Periodic paralysis HP:0003768 Episodic paralysis HP:0003768 Psoriasis HP:0003765 Nevus HP:0003764 Nevi HP:0003764 Naevus HP:0003764 Naevi HP:0003764 Bruxism HP:0003763 Uterus didelphys HP:0003762 Double uterus HP:0003762 Calcinosis HP:0003761 Percussion-induced rapid rolling muscle contractions (PIRC) HP:0003760 Hypoplasia of lymphatic vessels HP:0003759 Scanty adipose tissue HP:0003758 Reduced subcutaneous fat HP:0003758 Reduced subcutaneous adipose tissue HP:0003758 Decreased subcutaneous adipose tissue HP:0003758 Skeletal myopathy HP:0003756 Type 1 fibers relatively smaller than type 2 fibers HP:0003755 Episodic flaccid weakness HP:0003752 Muscle fatigue HP:0003750 Increased muscle fatiguability HP:0003750 Pelvic girdle weakness HP:0003749 Pelvic girdle muscle weakness HP:0003749 Hip-girdle muscle weakness HP:0003749 Hip girdle weakness HP:0003749 Hip girdle muscle weakness HP:0003749 Sporadic HP:0003745 Isolated cases HP:0003745 Paternal anticipation bias HP:0003744 Genetic anticipation with paternal anticipation bias HP:0003744 Genetic anticipation HP:0003743 Muscular dystrophy, congenital HP:0003741 Congenital muscular dystrophy HP:0003741 Myotonia with warm-up phenomenon HP:0003740 Myoclonic spasms HP:0003739 Muscle pain, exercise-induced HP:0003738 Muscle pain with exercise HP:0003738 Muscle pain on exercise HP:0003738 Exercise-induced myalgia HP:0003738 Exercise-induced muscle pain HP:0003738 Mitochondrial myopathy HP:0003737 Autophagic vacuoles HP:0003736 Thigh hypertrophy HP:0003733 Quadriceps weakness HP:0003731 Quadriceps muscle weakness HP:0003731 EMG: spontaneous, repetitive electrical activity HP:0003730 EMG: myotonic runs HP:0003730 Enteroviral dermatomyositis syndrome HP:0003729 Firm muscles HP:0003725 Shoulder-girdle muscle atrophy HP:0003724 Shoulder girdle muscle wasting HP:0003724 Shoulder girdle muscle atrophy HP:0003724 Shoulder girdle atrophy HP:0003724 Neck flexor weakness HP:0003722 Neck flexor muscle weakness HP:0003722 Neck flexion weakness HP:0003722 Generalized muscle hypertrophy HP:0003720 Muscle mounding HP:0003719 Minimal subcutaneous fat HP:0003717 Generalized muscular appearance from birth HP:0003716 Myofibrillar myopathy HP:0003715 Myofibrillar changes HP:0003715 Muscle fiber necrosis HP:0003713 Skeletal muscle hypertrophy HP:0003712 Muscular hypertrophy HP:0003712 Muscle hypertrophy HP:0003712 Hypertrophic muscles HP:0003712 Muscle cramps with exertion HP:0003710 Muscle cramps on exertion HP:0003710 Muscle cramps on exercise HP:0003710 Muscle cramps following exercise HP:0003710 Exercise-induced muscle cramps HP:0003710 Exercise-induced muscle cramping HP:0003710 Pseudohypertrophy of the calves HP:0003707 Calf muscle pseudohypertrophy HP:0003707 Scapuloperoneal weakness HP:0003704 Neurogenic scapuloperoneal syndrome HP:0003704 Proximal neurogenic muscle weakness HP:0003701 Proximal muscle weakness HP:0003701 Proximal limb weakness HP:0003701 Proximal limb muscle weakness HP:0003701 Muscle weakness, proximal HP:0003701 Muscular atrophy, generalized HP:0003700 Muscle atrophy, generalized HP:0003700 Muscle atrophy, diffuse HP:0003700 Generalized muscle atrophy HP:0003700 Generalized amyotrophy HP:0003700 Diffuse skeletal muscle wasting HP:0003700 Diffuse muscle wasting HP:0003700 Diffuse muscle atrophy HP:0003700 Diffuse amyotrophy HP:0003700 Difficulty standing HP:0003698 Difficulty in standing HP:0003698 Scapuloperoneal atrophy HP:0003697 Scapuloperoneal amyotrophy HP:0003697 Absent epiphysis of the distal phalanx of the 5th finger HP:0003696 Late-onset proximal muscle weakness HP:0003694 Muscle atrophy, distal HP:0003693 Distal muscular atrophy HP:0003693 Distal muscle wasting HP:0003693 Distal muscle atrophy, upper and lower limbs HP:0003693 Distal muscle atrophy HP:0003693 Distal limb muscle atrophy HP:0003693 Distal amyotrophy, especially of the hands and feet HP:0003693 Distal amyotrophy HP:0003693 Amyotrophy of distal limb muscles HP:0003693 obsolete Laterally deviated terminal thumb phalanx HP:0004083 obsolete Laterally deviated thumb phalanges HP:0004066 trident deformity HP:0004060 trident abnormality HP:0004060 Trident hand HP:0004060 Radial club hand HP:0004059 Monodactyly (hands) HP:0004058 Pseudosyndactyly HP:0004057 Mitten deformity HP:0004057 Sclerosis of hand bone HP:0004054 Hand bone sclerosis HP:0004054 Generalized sclerosis of hand bones HP:0004054 Dysharmonic ossification of the hand bones HP:0004053 Winged scapulas HP:0003691 Winged scapulae HP:0003691 Scapular winging HP:0003691 Scapular weakness HP:0003691 Scapula alata HP:0003691 Limb weakness HP:0003690 Limb muscle weakness HP:0003690 Multiple mitochondrial DNA deletions HP:0003689 Multiple mitochondrial DNA (mtDNA) deletions HP:0003689 Decreased skeletal muscle cytochrome c oxidase activity HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue HP:0003688 Cytochrome c oxidase deficiency in skeletal muscle HP:0003688 Centrally nucleated skeletal muscle fibers HP:0003687 Centralized sarcomeric nuclei HP:0003687 Centralized nuclei HP:0003687 Central nuclei HP:0003687 Large beaked nose HP:0003683 Variable progression rate HP:0003682 Stationary HP:0003680 Nonprogressive disorder HP:0003680 Nonprogressive course HP:0003680 Nonprogressive HP:0003680 Non-progressive HP:0003680 Pace of progression HP:0003679 Rapidly progressive disorder HP:0003678 Rapidly progressive HP:0003678 Antiphospholipid antibodies HP:0003613 Positive ferric chloride test HP:0003612 Fibroblast metachromasia HP:0003610 Foam cells with lamellar inclusion bodies HP:0003609 4-Hydroxyphenylacetic aciduria HP:0003607 Absent urinary urothione HP:0003606 Middle age onset HP:0003596 Onset in infancy HP:0003593 Onset in first year of life HP:0003593 Infantile onset HP:0003593 Insidious onset HP:0003587 Gradual onset HP:0003587 Late onset HP:0003584 Onset in early adulthood HP:0003581 Onset in adulthood HP:0003581 Adult onset HP:0003581 Prenatal onset HP:0003577 Onset in utero HP:0003577 Onset at birth HP:0003577 Intrauterine onset HP:0003577 Congenital onset HP:0003577 Increased intracellular sodium HP:0003575 Positive regitine blocking test HP:0003574 Increased total bilirubin HP:0003573 Increased bilirubin HP:0003573 Low plasma citrulline HP:0003572 Propionicacidemia HP:0003571 Molybdenum cofactor deficiency HP:0003570 Phosphohexose isomerase deficiency HP:0003568 Glucosephosphate isomerase deficiency HP:0003568 Decreased glucosephosphate isomerase activity HP:0003568 Increased serum prostaglandin E2 HP:0003566 Elevated prostaglandin e2 HP:0003566 Raised erythrocyte sedimentation rate HP:0003565 Increased erythrocyte sedimentation rate HP:0003565 High erythrocyte sedimentation rate HP:0003565 Elevated sedimentation rate HP:0003565 Elevated erythrocyte sedimentation rate HP:0003565 Folate-dependent fragile site at Xq28 HP:0003564 Hypobetalipoproteinemia HP:0003563 Decreased LDL HP:0003563 Abnormal metaphyseal vascular invasion HP:0003562 Birth length less than 3rd percentile HP:0003561 Birth length <3rd percentile HP:0003561 Birth length < 3rd percentile HP:0003561 Muscular dystrophy HP:0003560 Muscle biopsy shows dystrophic changes HP:0003560 Muscle hyperirritability HP:0003559 Viral infection-induced rhabdomyolysis HP:0003558 Variation in muscle fiber size HP:0003557 Increased variation in muscle fiber size HP:0003557 Increased variation in fiber size HP:0003557 Increased variability in muscle fiber size HP:0003557 Increased variability in muscle fiber diameter HP:0003557 Increased fiber size variation HP:0003557 Muscle fibre splitting HP:0003555 Muscle fiber splitting HP:0003555 Fibre splitting HP:0003555 Fiber splitting HP:0003555 Type 2 muscle fiber atrophy HP:0003554 Type 2 fiber atrophy HP:0003554 Cellulitis due to immunodeficiency HP:0003553 Muscle stiffness HP:0003552 Difficulty walking up stairs HP:0003551 Difficulty climbing stairs HP:0003551 Predominantly lower limb lymphedema HP:0003550 Abnormality of connective tissue HP:0003549 Subsarcolemmal accumulations of abnormally shaped mitochondria HP:0003548 Shoulder weakness HP:0003547 Shoulder girdle weakness HP:0003547 Shoulder girdle muscle weakness HP:0003547 Muscle weakness, shoulder-girdle HP:0003547 Exercise intolerance HP:0003546 Increased serum pyruvate HP:0003542 Urinary glycosaminoglycan excretion HP:0003541 Platelet aggregation defect HP:0003540 Impaired platelet aggregation HP:0003540 Deficient platelet aggregation HP:0003540 Defective platelet aggregation HP:0003540 Increased serum iduronate sulfatase activity HP:0003538 Increased serum iduronate sulfatase (10-20x) HP:0003538 Hypouricemia HP:0003537 Decreased fumarate hydratase activity HP:0003536 3-Methylglutaconic aciduria HP:0003535 Xanthine dehydrogenase deficiency HP:0003534 Reduced xanthine dehydrogenase activity HP:0003534 Delayed oxidation of acetaldehyde HP:0003533 Ornithinuria HP:0003532 Glutaric acidemia HP:0003530 Parathormone-independent increased renal tubular calcium reabsorption HP:0003529 Elevated calcitonin HP:0003528 Hyperprostaglandinuria HP:0003527 Orotic acid crystalluria HP:0003526 Methionine synthetase activity decreased HP:0003524 Methionine synthase deficiency HP:0003524 Decreased methionine synthase activity HP:0003524 Decreased methionine synthase (MTR, 156570) activity HP:0003524 Decreased activity of methionine synthase HP:0003524 Short-trunked dwarfism HP:0003521 Disproportionate short-trunked short stature HP:0003521 Disproportionate short-trunked dwarfism HP:0003521 Disproportionate short-trunk short stature HP:0003521 Birth length greater than 97th percentile HP:0003517 Deficiency or absence of cytochrome b(-245) HP:0003514 Deficiency or absence of cytochrome b HP:0003514 Reduced ratio of renal calcium clearance to creatinine clearance HP:0003513 Short stature, severe HP:0003510 Severe short stature HP:0003510 Proportionate dwarfism HP:0003510 Dwarfism HP:0003510 Short stature, proportionate HP:0003508 Proportionate small stature HP:0003508 Proportionate short stature HP:0003508 short stature, mild HP:0003502 Relative short stature HP:0003502 Mild short stature HP:0003502 Short stature, severe disproportionate HP:0003498 Short stature, disproportionate HP:0003498 Disproportionate short stature HP:0003498 Increased levels of IgM HP:0003496 Increased IgM levels HP:0003496 Increased IgM level HP:0003496 GM2-ganglioside accumulation HP:0003495 obsolete Loss of heterozygosity, multiple chromosomes HP:0003494 Serum antinuclear antibody HP:0003493 Elevated antinuclear antibody HP:0003493 Antinuclear antibody positivity HP:0003493 Antinuclear antibody positive HP:0003493 Antinuclear antibodies HP:0003493 High urinary gonadotropins (primary hypogonadism) HP:0003492 Elevated urine pyrophosphate HP:0003491 Defective dehydrogenation of isovaleryl CoA and butyryl CoA HP:0003490 Acute episodes of neuropathic symptoms HP:0003489 Extensor plantar responses HP:0003487 Extensor plantar response HP:0003487 Extensor plantar reflexes HP:0003487 Babinski sign HP:0003487 Upper limb muscle weakness HP:0003484 EMG: axonal abnormality HP:0003482 Segmental peripheral demyelination/remyelination HP:0003481 Segmental demyelination/remyelination HP:0003481 Peripheral axonal neuropathy HP:0003477 Axonal peripheral neuropathy HP:0003477 Axonal neuropathy HP:0003477 Sensory impairment HP:0003474 Hypoesthesia HP:0003474 Hypoaesthesia HP:0003474 Proximal muscle weakness due to defect at the neuromuscular junction HP:0003473 Myasthenic weakness HP:0003473 Myasthenia HP:0003473 Generalized muscle weakness due to defect at the neuromuscular junction HP:0003473 Fatigable weakness of limb muscles HP:0003473 Fatigable weakness HP:0003473 Hypocalcemic tetany HP:0003472 Paralysis HP:0003470 Peripheral dysmyelination HP:0003469 Vertebral anomalies HP:0003468 Multiple vertebral anomalies HP:0003468 Abnormality of the vertebrae HP:0003468 Abnormal vertebral bodies HP:0003468 Abnormal vertebrae HP:0003468 Atlantoaxial instability HP:0003467 Paradoxical increased cortisol secretion on dexamethasone suppression test HP:0003466 Elevated 8(9)-cholestenol HP:0003465 Abnormal cholesterol homeostasis HP:0003464 Lipopigment in extraneuronal cells HP:0003463 Increased extraneuronal autofluorescent lipopigment HP:0003463 Elevated 8-dehydrocholesterol HP:0003462 Increased urinary O-linked sialopeptides HP:0003461 Total immunoglobulin A deficiency HP:0003460 Polyclonal elevation of IgM HP:0003459 Myopathic electromyogram HP:0003458 EMG: myopathy HP:0003458 EMG: myopathic changes HP:0003458 EMG: myopathic abnormalities HP:0003458 Electromyogram abnormal HP:0003457 EMG abnormality HP:0003457 EMG abnormalities HP:0003457 Abnormal electromyography finding HP:0003457 Abnormal EMG HP:0003457 Low urinary cyclic AMP response to PTH administration HP:0003456 Elevated long chain fatty acids HP:0003455 Platelet antibody positive HP:0003454 Platelet antibody HP:0003454 Neutrophil antibody positive HP:0003453 Antineutrophil antibody positivity HP:0003453 Antineutrophil antibodies HP:0003453 Increased serum iron HP:0003452 Increased rate of premature chromosome condensation HP:0003451 Regenerative activity on nerve biopsy HP:0003450 Pseudarthrosis (humeral) HP:0003879 Periosteal new bone (humeral) HP:0003878 Oval transradiancy (humeral) HP:0003877 Osteoporotic humerus HP:0003876 Lytic defects (humeral) HP:0003875 Humerus varus HP:0003874 Exostoses (humeral) HP:0003872 Deformed humerus HP:0003871 Crumpled humerus HP:0003870 Cortical thinning (humeral) HP:0003869 Cortical thickening (humeral) HP:0003868 Cortical irregularity (humeral) HP:0003867 Coarse trabeculae (humeral) HP:0003866 Humeral bowing HP:0003865 Bowing of the humerus HP:0003865 Bowed humerus HP:0003865 Bifid humerus HP:0003864 Angulated humerus HP:0003863 Aplastic humerus HP:0003862 Aplasia of the humerus HP:0003862 Absent humerus HP:0003862 Wide diaphyses of the upper limbs HP:0003861 Broad diaphyses of the upper limbs HP:0003861 Diaphyseal sclerosis of the upper limbs HP:0003860 Cortical diaphyseal thickening of the upper limbs HP:0003859 Cortical diaphyseal irregularity of the upper limbs HP:0003858 Wide/broad metaphyses of the upper limbs HP:0003856 Upper limb metaphyseal widening HP:0003856 Spurred metaphyses of the upper limbs HP:0003855 Sclerosis of metaphyses of the upper limbs HP:0003854 Sclerosis with transverse striations in metaphyses of the upper limbs HP:0003853 Normal density transverse bands in metaphyses of the upper limbs HP:0003852 Lytic defects in metaphyses of the upper limbs HP:0003851 Upper-limb metaphyseal irregularity HP:0003850 Irregular metaphyses of the upper limbs HP:0003850 Flared upper limb metaphysis HP:0003849 Flared metaphyses of the upper limbs HP:0003849 Axonal regeneration HP:0003450 Cold-induced muscle cramps HP:0003449 Decreased sensory nerve conduction velocity HP:0003448 Decreased sensory nerve conduction velocities (NCV) HP:0003448 Decreased sensory nerve conduction velocities HP:0003448 Axonal loss HP:0003447 EMG: neuropathic changes HP:0003445 EMG: neurogenic findings HP:0003445 EMG: neurogenic changes HP:0003445 EMG: neurogenic abnormalities HP:0003445 EMG: chronic denervation signs HP:0003444 Decreased size of nerve terminals HP:0003443 Horizontal sacrum HP:0003440 Absent ankle reflexes HP:0003438 Absent Achilles reflex HP:0003438 Prolonged miniature endplate potentials (MEPP) HP:0003436 Prolonged miniature endplate potentials HP:0003436 Prolonged miniature endplate currents (MEPC) HP:0003436 Prolonged miniature endplate currents HP:0003436 Cold-induced hand cramps HP:0003435 Sensory ataxic neuropathy HP:0003434 Reduced motor nerve conduction velocity HP:0003431 Decreased motor nerve conduction velocity (NCV) HP:0003431 Decreased motor nerve conduction velocity HP:0003431 Decreased motor nerve conduction velocities (NCV) HP:0003431 hypomyelination HP:0003429 Abnormal bone structure HP:0003330 Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes HP:0003329 Abnormal hair laboratory examination HP:0003328 Axial muscle weakness HP:0003327 Myalgias HP:0003326 Myalgia HP:0003326 Muscle pain HP:0003326 Muscular weakness, limb-girdle HP:0003325 Muscle weakness, limb-girdle HP:0003325 Limb-girdle muscle weakness HP:0003325 Limb girdle weakness HP:0003325 Muscle weakness, generalized HP:0003324 Muscle weakness, diffuse HP:0003324 Generalized weakness HP:0003324 Generalized muscle weakness HP:0003324 Progressive muscular weakness HP:0003323 Progressive muscle weakness HP:0003323 Muscle weakness, progressive HP:0003323 Biconcave flattened vertebrae HP:0003321 C1-C2 subluxation HP:0003320 Cervical vertebral anomalies HP:0003319 Cervical vertebral abnormalities HP:0003319 Cervical spine abnormalities HP:0003319 Abnormality of the cervical vertebrae HP:0003319 Abnormality of the cervical spine HP:0003319 Abnormal cervical spine HP:0003319 Cervical spine hypermobility HP:0003318 Schmetterlingswirbel HP:0003316 Butterfly vertebrae HP:0003316 Abnormally shaped vertebrae HP:0003312 Abnormal form of the vertebral bodies HP:0003312 Small odontoid process HP:0003311 Odontoid hypoplasia HP:0003311 Hypoplastic odontoid process HP:0003311 Hypoplasia of the odontoid process HP:0003311 Abnormality of the odontoid process HP:0003310 Abnormal odontoid process HP:0003310 Abnormal odontoid peg HP:0003310 Ovoid thoracolumbar vertebrae HP:0003309 Ovoid thoracic and lumbar vertebrae HP:0003309 Cervical subluxation HP:0003308 Lordosis HP:0003307 Hyperlordosis HP:0003307 Spinal rigidity HP:0003306 Rigid spine HP:0003306 Block vertebrae HP:0003305 Spondylolysis HP:0003304 Spondylolithesis HP:0003302 Spondylolisthesis HP:0003302 vertebral endplate irregularity HP:0003301 irregular vertebral plates HP:0003301 endplate irregularity HP:0003301 endplate irregularities HP:0003301 end-plate irregularities HP:0003301 Irregular vertebral endplates HP:0003301 Irregular endplates HP:0003301 Irregular end plates HP:0003301 Ovoid-shaped vertebral bodies HP:0003300 Ovoid vertebral bodies HP:0003300 Ovoid vertebrae HP:0003300 Oval vertebral bodies HP:0003300 Bullet vertebral body HP:0003300 Spina bifida occulta HP:0003298 Lysinuria HP:0003297 Hyperlysinuria HP:0003297 Hyperthreoninuria HP:0003296 Impaired FSH and LH secretion HP:0003295 Decreased serum leptin HP:0003292 Mitochondrial propionyl-CoA carboxylase (PCC) defect HP:0003288 Mitochondrial dysfunction HP:0003287 Abnormality of mitochondrial metabolism HP:0003287 Cystathioninemia HP:0003286 Low alkaline phosphatase HP:0003282 Decreased serum alkaline phosphatase HP:0003282 Increased serum ferritin level HP:0003281 Increased serum ferritin HP:0003281 Increased ferritin HP:0003281 Hyperferritinemia HP:0003281 Hyperferritinaemia HP:0003281 Elevated serum ferritin HP:0003281 Coxa magna HP:0003279 Squared off pelvis HP:0003278 Square pelvis bone HP:0003278 Square pelvis HP:0003278 Constricted iliac wings HP:0003277 Pelvic exostoses HP:0003276 Pelvic bone exostoses HP:0003276 Narrow pelvis bone HP:0003275 Narrow pelvis HP:0003275 Hypoplastic acetabulae HP:0003274 Hypoplastic acetabula HP:0003274 Acetabular hypoplasia HP:0003274 Hip flexion contractures HP:0003273 Hip contractures HP:0003273 Hip contracture HP:0003273 Flexion contractures of hips HP:0003273 Flexion contracture of hips HP:0003273 Abnormality of the hips HP:0003272 Abnormality of the hip bone HP:0003272 Visceromegaly HP:0003271 Distended abdomen HP:0003270 Abdominal swelling HP:0003270 Abdominal distention HP:0003270 Abdominal distension HP:0003270 Sudanophilic leukodystrophy HP:0003269 Argininuria HP:0003268 Reduced orotidine 5-prime phosphate decarboxylase activity HP:0003267 Orotidine-5-prime-phosphate decarboxylase defect HP:0003267 Neonatal hyperbilirubinemia HP:0003265 Hyperbilirubinemia, neonatal HP:0003265 Deficiency of N-acetylglucosamine-1-phosphotransferase HP:0003264 Smooth muscle antibody positivity HP:0003262 Smooth muscle antibody positive HP:0003262 Increased serum IgA HP:0003261 Increased levels of IgA HP:0003261 Increased IgA level HP:0003261 Elevated serum IgA HP:0003261 Elevated IgA HP:0003261 Hydroxyprolinemia HP:0003260 Increased serum creatinine HP:0003259 Increased creatinine HP:0003259 Elevated serum creatinine HP:0003259 Elevated creatinine HP:0003259 Glyoxalase deficiency HP:0003258 Coagulopathy HP:0003256 Abnormality of the coagulation cascade HP:0003256 Abnormality of DNA repair HP:0003254 Anteriorly displaced genitalia HP:0003252 Male infertility HP:0003251 Congenital absence of the vagina HP:0003250 Aplasia of the vagina HP:0003250 Absent vagina HP:0003250 Genital ulcers HP:0003249 Gonadal tissue inappropriate for external genitalia or chromosomal sex HP:0003248 Overgrowth of external genitalia HP:0003247 Prominent scrotal raphe HP:0003246 Prominent perineal raphe HP:0003246 Penile hypospadias HP:0003244 Small genitalia HP:0003241 Hypogenitalism HP:0003241 External genital hypoplasia HP:0003241 Increased phosphoribosylpyrophosphate (PRPP) synthetase HP:0003240 Phosphoethanolaminuria HP:0003239 Hyperpepsinogenemia I HP:0003238 Increased levels of IgG HP:0003237 Increased IgG level HP:0003237 Increased serum creatine phosphokinase HP:0003236 Increased serum creatine kinase HP:0003236 Increased serum CK HP:0003236 Increased creatine phosphokinase (CPK) HP:0003236 Increased creatine phosphokinase HP:0003236 Increased creatine kinase HP:0003236 High serum creatine kinase HP:0003236 Elevated serum creatine phosphokinase HP:0003236 Elevated serum creatine kinase HP:0003236 Elevated serum CPK HP:0003236 Elevated creatine kinase HP:0003236 Elevated circulating creatine phosphokinase HP:0003236 Elevated blood creatine phosphokinase HP:0003236 Methioninemia HP:0003235 Hypermethioninemia HP:0003235 Decreased plasma carnitine HP:0003234 Carnitine deficiency HP:0003234 Low HDL-cholesterol HP:0003233 Hypoalphalipoproteinemia HP:0003233 Decreased circulating high-density lipoprotein cholesterol HP:0003233 Decreased HDL cholesterol HP:0003233 Mitochondrial malic enzyme reduced HP:0003232 Decreased mitochondrial malic enzyme HP:0003232 Tyrosinemia HP:0003231 Hypertyrosinemia HP:0003231 Hypernatremia HP:0003228 Rectilinear profiles ultrastructurally HP:0003226 Rectilinear intracellular accumulation of autofluorescent lipopigment storage material HP:0003226 Reduced factor V activity HP:0003225 Factor V deficiency HP:0003225 Increased cellular sensitivity to UV light HP:0003224 Methylcobalamin deficiency HP:0003223 Decreased methylcobalamin HP:0003223 Chromosomal breakage induced by mitomycin C HP:0003221 Chromosomal breakage induced by diepoxybutane HP:0003221 Chromosomal breakage induced by crosslinking agents HP:0003221 Tendency to chromosomal breakage HP:0003220 Multiple chromosomal breaks HP:0003220 Increased chromosome breakage HP:0003220 Increased chromosomal breakage rate HP:0003220 Increased chromosomal breakage HP:0003220 High frequency of chromosome breaks in lymphocytes HP:0003220 Chromosome breakage HP:0003220 Abnormality of chromosome stability HP:0003220 Rapid progression HP:0003678 Slowly progressive disorder HP:0003677 Slowly progressive HP:0003677 Slow progression HP:0003677 Slow disease progression HP:0003677 Progressive disorder HP:0003676 Progressive HP:0003676 Onset HP:0003674 Age of onset HP:0003674 Amyotrophy of the musculature of the pelvis HP:0003665 Hypomethioninemia HP:0003658 Decreased serum methionine HP:0003658 Decreased plasma methionine HP:0003658 Granular osmiophilic deposits (GROD) in cells HP:0003657 Decreased beta-glucocerebrosidase protein and activity HP:0003656 Reduced activity of N-acetylglucosaminyltransferase II HP:0003655 Deficient N-acetylglucosaminyltransferase II HP:0003655 Reduced dihydropyrimidine dehydrogenase activity HP:0003654 Dihydropyrimidine dehydrogenase deficiency HP:0003654 Cellular metachromasia HP:0003653 Recurrent myoglobinuria HP:0003652 Myoglobinuria, recurrent HP:0003652 Myoglobinuria, episodic HP:0003652 Presence of foam cells HP:0003651 Foam cells HP:0003651 Abnormality of glycoside metabolism HP:0003649 Lacticaciduria HP:0003648 Electron transfer flavoprotein-ubiquinone oxidoreductase defect HP:0003647 Bicarbonaturia HP:0003646 Prolonged partial thromboplastin time HP:0003645 Prolonged activated partial thromboplastin time HP:0003645 Partial thromboplastin time prolonged HP:0003645 Delayed thromboplastin generation HP:0003645 Abnormal partial thromboplastin time HP:0003645 Sulfite oxidase deficiency HP:0003643 Type I transferrin isoform profile HP:0003642 Isoelectric focusing of serum transferrin consistent with CDG type I HP:0003642 Abnormal isoelectric focusing of serum transferrin, type I pattern HP:0003642 Abnormal isoelectric focusing of serum transferrin (type 1 pattern) HP:0003642 Hemoglobinuria HP:0003641 Foam cells in visceral organs and CNS HP:0003640 Increased urinary epinephrine HP:0003639 Elevated urinary epinephrine HP:0003639 Reduced 4-Hydroxyphenylpyruvate dioxygenase activity HP:0003637 Loss of subcutaneous adipose tissue in limbs HP:0003635 Loss of subcutaneous adipose tissue from extremities HP:0003635 Congenital absence of muscles HP:0003634 Amyoplasia HP:0003634 Onset in neonatal period HP:0003623 Onset in first weeks of life HP:0003623 Neonatal onset HP:0003623 Juvenile onset HP:0003621 Premature separation of centromeric heterochromatin HP:0003616 Trimethylaminuria HP:0003614 Phospholipid antibody positivity HP:0003613 Antiphospholipid antibody positivity HP:0003613 Antiphospholipid antibody HP:0003613 Ethylmalonic aciduria HP:0003219 Oroticaciduria HP:0003218 Orotic aciduria HP:0003218 Hyperglutaminemia HP:0003217 High plasma glutamine HP:0003217 Generalized amyloid deposition HP:0003216 Dicarboxylic aciduria HP:0003215 Prolonged G2 phase of cell cycle HP:0003214 Deficient excision of UV-induced pyrimidine dimers in DNA HP:0003213 Increased IgE level HP:0003212 High immunoglobulin E HP:0003212 Elevated serum IgE HP:0003212 Elevated immunoglobulin E HP:0003212 Decreased methylmalonyl-CoA mutase activity HP:0003210 Decreased methylmalonyl-CoA mutase (mut, 609058) activity HP:0003210 Decreased pyruvate carboxylase activity HP:0003209 Fingerprint profiles ultrastructurally HP:0003208 Fingerprint intracellular accumulation of autofluorescent lipopigment storage material HP:0003208 'Fingerprint profiles' ultrastructurally in cells HP:0003208 Arterial calcification HP:0003207 Decreased activity of NADPH oxidase HP:0003206 Intracellular curvilinear profiles on ultrastructural analysis HP:0003205 Curvilinear profiles ultrastructurally HP:0003205 Curvilinear intracellular accumulation of autofluorescent lipopigment storage material HP:0003205 'curvilinear profiles' ultrastructurally HP:0003205 'Curvilinear profiles' ultrastructurally in cells HP:0003205 Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency HP:0003164 Elevated urinary delta-aminolevulinic acid HP:0003163 Fasting hypoglycemia HP:0003162 Hydroxyphenylpyruvic aciduria HP:0003161 4-Hydroxyphenylpyruvic aciduria HP:0003161 Abnormal transferrin isoelectric focusing HP:0003160 Abnormal isoelectric focusing of serum transferring HP:0003160 Abnormal isoelectric focusing of serum transferrin HP:0003160 Hyperoxaluria HP:0003159 Reduced urinary osmolality HP:0003158 Hyposthenuria HP:0003158 Increased serum alkaline phosphatase HP:0003155 Increased alkaline phosphatase HP:0003155 Hyperphosphatasia HP:0003155 High serum alkaline phosphatase HP:0003155 Greatly elevated alkaline phosphatase HP:0003155 Elevated alkaline phosphatase HP:0003155 Increased plasma acth HP:0003154 Increased circulating ACTH level HP:0003154 Cystathioninuria HP:0003153 Increased serum 1,25-dihydroxyvitamin D3 HP:0003152 Glutaricaciduria HP:0003150 Glutaric aciduria HP:0003150 Hyperuricosuria HP:0003149 Elevated serum acid phosphatase HP:0003148 Acid phosphatase elevated HP:0003148 Hypocholesterolemia HP:0003146 Decreased adenosylcobalamin (ADOCBL) HP:0003145 Decreased adenosylcobalamin HP:0003145 Increased serum serotonin HP:0003144 Excessive purine production HP:0003142 Increased circulating low-density lipoprotein cholesterol HP:0003141 Increased beta-lipoproteins HP:0003141 Increased LDL cholesterol HP:0003141 Hyperbetalipoproteinemia HP:0003141 T-wave inversion in the right precordial leads HP:0003140 Panypogammaglobulinemia HP:0003139 Panhypogammaglobulinemia HP:0003139 Increased blood urea nitrogen (BUN) HP:0003138 Increased blood urea nitrogen HP:0003138 Prolinuria HP:0003137 Sensory and motor nerve conduction abnormalities HP:0003134 Abnormality of peripheral nerve conduction HP:0003134 Abnormal peripheral nerve transmission HP:0003134 Abnormality of the spinocerebellar tracts HP:0003133 Cystinuria HP:0003131 Abnormal peripheral myelination HP:0003130 Lacticacidosis HP:0003128 Lacticacidemia HP:0003128 Lactic acidosis HP:0003128 Lactic acidemia HP:0003128 Hyperlacticacidemia HP:0003128 Hypocalciuria HP:0003127 Tubular proteinuria HP:0003126 Low-molecular-weight proteinuria HP:0003126 Reduced factor VIII activity HP:0003125 Factor VIII deficiency HP:0003125 Increased total cholesterol HP:0003124 Hypercholesterolemia HP:0003124 Elevated total cholesterol HP:0003124 Elevated serum cholesterol HP:0003124 Limb joint contracture HP:0003121 Limb contractures HP:0003121 Dyslipidemia HP:0003119 Abnormality of lipid metabolism HP:0003119 Increased circulating cortisol level HP:0003118 Abnormality of circulating hormone level HP:0003117 Abnormal echocardiography HP:0003116 Abnormal echocardiogram HP:0003116 Abnormal EKG HP:0003115 obsolete Abnormal cardiological findings HP:0003114 Hypochloremia HP:0003113 Abnormality of serum amino acid levels HP:0003112 Electrolyte disorders HP:0003111 Abnormality of ion homeostasis HP:0003111 Abnormality of urine homeostasis HP:0003110 Phosphaturia HP:0003109 Hyperphosphaturia HP:0003109 Hyperglycinuria HP:0003108 Glycinuria HP:0003108 Abnormality of cholesterol metabolism HP:0003107 Subperiosteal erosions due to secondary hyperparathyroidism HP:0003106 Protuberances at ends of long bones HP:0003105 Abnormality of cortical bone HP:0003103 Abnormal cortical bone morphology HP:0003103 Abnormal compact bone morphology HP:0003103 Increased carrying angle HP:0003102 Thin, gracile long bones HP:0003100 Thin long bones HP:0003100 Thin gracile long bones HP:0003100 Slender, gracile long tubular bones HP:0003100 Slender long bones HP:0003100 Slender long bone HP:0003100 Long bones slender HP:0003100 Gracile long bones HP:0003100 Fibular overgrowth HP:0003099 Short femurs HP:0003097 Short femur HP:0003097 Hypoplasia of the femora HP:0003097 Femoral hypoplasia HP:0003097 Septic arthritis HP:0003095 Restricted hip extension HP:0003093 Limited hip extension HP:0003093 Trophic limb changes HP:0003091 Small proximal femoral epiphyses HP:0003090 Small femoral capital epiphyses HP:0003090 Small capital femoral epiphyses HP:0003090 Hypoplasia of the capital femoral epiphysis HP:0003090 Hamstring contractures HP:0003089 Premature osteoarthritis HP:0003088 Premature arthritis HP:0003088 Acromesomelia HP:0003086 Long fibula HP:0003085 Disproportionately long fibula HP:0003085 Increased long bone fracture rate HP:0003084 Fractures of the long bones HP:0003084 Radial head dislocation/subluxation HP:0003083 Radial head dislocation HP:0003083 Radial dislocation HP:0003083 Dislocation of the radial head HP:0003083 Dislocation of radial head HP:0003083 Dislocated radius HP:0003083 Dislocated radial heads HP:0003083 Dislocated radial head HP:0003083 Congenital radial head dislocation HP:0003083 Increased urinary potassium HP:0003081 Hydroxyprolinuria HP:0003080 Elevated urinary hydroxyproline HP:0003080 Defective DNA repair after ultraviolet radiation damage HP:0003079 Hyperlipidemia HP:0003077 Glycosuria HP:0003076 Glucosuria HP:0003076 Hypoproteinemia HP:0003075 Hyperglycemia HP:0003074 Hypoalbuminemia HP:0003073 Hypoalbuminaemia HP:0003073 Hypercalcemia HP:0003072 Hypercalcaemia HP:0003072 Flattened epiphysis HP:0003071 Flat epiphyses HP:0003071 Elbow ankylosis HP:0003070 Madelung-like forearm deformities HP:0003068 Madelung wrist deformity HP:0003067 Madelung deformity HP:0003067 Limited knee extension HP:0003066 Small patellae HP:0003065 Small patella HP:0003065 Patellar hypoplasia HP:0003065 Hypoplastic patellae HP:0003065 Abnormality of the humerus HP:0003063 Abnormality of the humeri HP:0003063 Abnormality of the radioulnar joints HP:0003059 Tetraamelia HP:0003057 Tetra-amelia HP:0003057 Epiphyseal deformities of tubular bones HP:0003053 Enlarged metaphyses HP:0003051 Ulnar deviation of wrists HP:0003049 Ulnar deviation of the wrist HP:0003049 Radial-head subluxation HP:0003048 Radial subluxation HP:0003048 Radial head subluxation HP:0003048 Patellar abnormality HP:0003045 Abnormality of the patella HP:0003045 Shoulder flexion contracture HP:0003044 Abnormality of the shoulder HP:0003043 Ulnohumeral dislocation HP:0003042 Radiohumeral dislocation HP:0003042 Radiocapitellar dislocation HP:0003042 Elbow dislocations HP:0003042 Elbow dislocation HP:0003042 Dislocations of the elbows HP:0003042 Synostosis of radius and humerus HP:0003041 Radiohumeral synostosis of elbow HP:0003041 Humeroradial synostosis HP:0003041 Humeral-radial synostosis HP:0003041 Humeral radial synostosis HP:0003041 Arthropathy HP:0003040 Short fibulae HP:0003038 Short fibula HP:0003038 Hypoplastic fibula HP:0003038 Fibular hypoplasia HP:0003038 Enlarged joints HP:0003037 Diaphyseal sclerosis HP:0003034 Diaphyseal osteosclerosis HP:0003034 Craniodiaphyseal osteosclerosis HP:0003034 Ulnar bowing HP:0003031 Curved ulna HP:0003031 Bowed ulna HP:0003031 Enlargement of the ankles HP:0003029 Abnormality of the ankles HP:0003028 CNS hypomyelination HP:0003429 Thenar muscle weakness HP:0003427 First dorsal interossei muscle atrophy HP:0003426 Thoracolumbar kyphoscoliosis HP:0003423 Dorsolumbar kyphosis HP:0003423 Vertebral segmentation defect HP:0003422 Abnormal spinal segmentation HP:0003422 Platyspondyly (childhood) HP:0003421 Lower back pain HP:0003419 Low back pain HP:0003419 Back pain HP:0003418 coronal cleft of vertebrae HP:0003417 Vertebral coronal clefts HP:0003417 Coronal vertebral clefts HP:0003417 Coronal clefts HP:0003417 Coronal cleft vertebrae HP:0003417 Spinal stenosis HP:0003416 Spinal canal stenosis HP:0003416 Narrow spinal canal HP:0003416 Atlantoaxial subluxation HP:0003414 Atlantoaxial dislocation HP:0003414 Atlanto-axial subluxation HP:0003414 Atlantoaxial abnormality HP:0003413 Proximal femoral metaphyseal irregularity HP:0003411 Irregular proximal femoral metaphyses HP:0003411 Distal sensory loss to all modalities HP:0003409 Distal sensory impairment of all modalities HP:0003409 Peripheral nerve compression HP:0003406 Diffuse axonal swelling HP:0003405 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation HP:0003403 EMG: decremental response of CMAP to repetitive nerve stimulation HP:0003403 EMG: decrement at repetitive stimulation HP:0003403 Small miniature endplate potentials HP:0003402 Small miniature endplate currents HP:0003402 Decreased miniature endplate potentials (MEPP) HP:0003402 Decreased miniature endplate potentials HP:0003402 Paresthesias HP:0003401 Paresthesia HP:0003401 Basal lamina 'onion bulb' formations on nerve biopsy HP:0003400 Basal lamina 'onion bulb' formation HP:0003400 Abnormality of neuromuscular transmission HP:0003398 Abnormal synaptic transmission at the neuromuscular junction HP:0003398 Generalized hypotonia due to defect at the neuromuscular junction HP:0003397 Syringomyelia HP:0003396 Muscle cramps HP:0003394 Thenar muscle atrophy HP:0003393 First dorsal interossei muscle weakness HP:0003392 Positive Gowers sign HP:0003391 Positive Gower sign HP:0003391 Gowers sign HP:0003391 Gower sign HP:0003391 Sensory axonal neuropathy HP:0003390 Peripheral sensory axonal neuropathy HP:0003390 Axonal sensory neuropathy HP:0003390 Easy fatigability HP:0003388 Loss of larger myelinated nerve fibers HP:0003387 Loss of large myelinated fibers HP:0003387 Depletion of large myelinated fibers HP:0003387 Decreased number of large peripheral myelinated nerve fibers HP:0003387 Peripheral axonal atrophy HP:0003384 Onion bulb formations HP:0003383 Onion bulb formation HP:0003383 'Onion bulb' formations HP:0003383 Hypertrophic nerve changes HP:0003382 Loss of myelinated fibers HP:0003380 Decreased number of peripheral myelinated nerve fibers HP:0003380 Decreased number of large and small myelinated fibers HP:0003380 Axonal degeneration/regeneration HP:0003378 Axon degeneration and regeneration HP:0003378 Steppage gait HP:0003376 'steppage' gait HP:0003376 Small sacrosciatic notches HP:0003375 Small sacrosciatic notch HP:0003375 Narrowed sacrosciatic notch HP:0003375 Narrowed greater sciatic notch HP:0003375 Narrow sciatic notches HP:0003375 Narrow sacrosciatic notch HP:0003375 Narrow greater sacrosciatic notches HP:0003375 Enlargement of the proximal femoral epiphysis HP:0003371 Enlarged capital femoral epiphyses HP:0003371 Flattened proximal femoral epiphyses HP:0003370 Flat proximal femoral epiphyses HP:0003370 Flat femoral capital epiphyses HP:0003370 Flat capital femoral epiphysis HP:0003370 Flat capital femoral epiphyses HP:0003370 Abnormality of the femoral head HP:0003368 Abnormality of the femoral neck HP:0003367 Abnormality of the femoral neck or head region HP:0003366 Coxalgia HP:0003365 Arthralgia of the hip HP:0003365 Arthralgia (hip) HP:0003365 Situs inversus viscerum HP:0003363 Situs inversus visceralis HP:0003363 Abdominal situs inversus HP:0003363 Increased plasma VLDL cholesterol HP:0003362 Increased circulating very-low-density lipoprotein cholesterol HP:0003362 Tryptophanuria HP:0003361 Decreased urinary sulfate HP:0003359 Elevated intracellular cystine HP:0003358 Thymic hormone decreased HP:0003357 Aminoaciduria HP:0003355 Abnormal urinary amino-acid findings HP:0003355 Hyperthreoninemia HP:0003354 Propionyl-CoA carboxylase deficiency HP:0003353 Endopolyploidy on chromosome studies of bone marrow HP:0003352 Suppressed plasma renin activity HP:0003351 Low plasma renin activity HP:0003351 Decreased plasma renin activity HP:0003351 Decreased circulating renin level HP:0003351 Low cholesterol esterification rates HP:0003349 Increased serum alanine HP:0003348 Increased blood alanine HP:0003348 Hyperalaninemia HP:0003348 Impaired lymphocyte transformation with phytohemagglutinin HP:0003347 Elevated urinary norepinephrine HP:0003345 3-methylglutaricaciduria HP:0003344 3-Methylglutaric aciduria HP:0003344 3-Methylglutaconicaciduria HP:0003344 Glutathione synthetase deficiency HP:0003343 Subepidermal blistering with cleavage in the lamina lucida HP:0003341 Junctional split HP:0003341 obsolete Abnormal dermatological laboratory findings HP:0003340 Pyrimidine-responsive megaloblastic anemia HP:0003339 Anemia corrected by uridylic acid and cytidylic acid HP:0003339 Focal necrosis of right ventricular muscle cells HP:0003338 Reduced prothrombin consumption HP:0003337 Poor prothrombin consumption HP:0003337 Abnormal enchondral ossification HP:0003336 Low gonadotropins (secondary hypogonadism) HP:0003335 Gonadotropin insufficiency HP:0003335 Elevated circulating catecholamine level HP:0003334 Increased serum beta-hexosaminidase HP:0003333 Absent primary metaphyseal spongiosa HP:0003332 Symmetric mesomelic limb shortness HP:0003027 Mesomelic shortening of limbs HP:0003027 Mesomelic limb shortening HP:0003027 Mesomelia HP:0003027 shortened long tubular bones HP:0003026 Short tubular bones HP:0003026 Short long bone HP:0003026 Long bone shortening HP:0003026 Metaphyseal irregularity HP:0003025 Metaphyseal irregularities HP:0003025 Metaphyseal fraying HP:0003025 Irregular metaphyses HP:0003025 Frayed, irregular, metaphyses HP:0003025 Frayed, irregular metaphyses HP:0003025 Bowing of limbs due to multiple fractures HP:0003023 Bowed limbs due to multiple fractures HP:0003023 Ulnar hypoplasia HP:0003022 Short ulnae HP:0003022 Short ulna HP:0003022 Hypoplastic ulna HP:0003022 Hypoplasia of the ulna HP:0003022 Metaphyseal cupping HP:0003021 Enlargement of the wrists HP:0003020 Abnormality of the wrist HP:0003019 Abnormalities of the wrists HP:0003019 Widened metaphyses HP:0003016 Hypoplastic radii HP:0002984 Hypoplasia of the radius HP:0002984 Micromelia HP:0002983 Tibial bowing HP:0002982 Bowing of the tibia HP:0002982 Bowed tibia HP:0002982 Abnormality of the calf HP:0002981 Femoral bowing HP:0002980 Bowed femurs HP:0002980 Bowed femura HP:0002980 Bowed femur HP:0002980 Bowing of the legs HP:0002979 Bowed lower limbs HP:0002979 Bowed legs HP:0002979 Aplasia/Hypoplasia involving the central nervous system HP:0002977 Radioulnar synostosis HP:0002974 Fused forearm bones HP:0002974 Abnormality of the forearm HP:0002973 Reduced delayed hypersensitivity HP:0002972 Impaired delayed hypersensitivity HP:0002972 Deficiency of delayed skin hypersensitivity HP:0002972 Decreased reactivity to skin test antigens HP:0002972 Absent microvilli on the surface of peripheral blood lymphocytes HP:0002971 Genua vara HP:0002970 Genu varum HP:0002970 Genu vara HP:0002970 Bow-leggedness HP:0002970 Bow legs HP:0002970 Cubitus valgus HP:0002967 Lack of delayed skin hypersensitivity reaction HP:0002965 Cutaneous anergy HP:0002965 Absence of delayed hypersensitivity skin test HP:0002965 Abnormal delayed hypersensitivity skin test HP:0002963 Dysgammaglobulinemia HP:0002961 Autoimmunity HP:0002960 Autoimmune disorders HP:0002960 Autoimmune disease HP:0002960 Impaired Ig class-switch recombination (CSR) HP:0002959 Impaired Ig class switch recombination HP:0002959 Impaired B-lymphocyte isotype switching HP:0002959 Immune dysregulation HP:0002958 Granulomatosis HP:0002955 Vertebral compression or collapse HP:0002953 Vertebral compression fractures HP:0002953 Vertebral compression HP:0002953 Vertebral collapse HP:0002953 Vertebral body compression HP:0002953 Fractures of vertebral bodies HP:0002953 Partial absence of cerebellar vermis HP:0002951 Fusion of cervical vertebrae HP:0002949 Fused cervical vertebrae HP:0002949 Cervical vertebral fusion HP:0002949 Vertebral fusion HP:0002948 Vertebral body fusion HP:0002948 Spinal fusion HP:0002948 Fusion of vertebral bodies HP:0002948 Fused vertebrae HP:0002948 Cervical kyphosis HP:0002947 Supernumerary vertebrae HP:0002946 Narrow intervertebral spaces HP:0002945 Narrow intervertebral disc spaces HP:0002945 Intervertebral space narrowing HP:0002945 Thoracolumbar scoliosis HP:0002944 Scoliosis, thoracolumbar HP:0002944 Thoracic scoliosis HP:0002943 Thoracic kyphosis HP:0002942 Exaggerated thoracic kyphosis HP:0002942 Accentuated thoracic kyphosis HP:0002942 Prominent lumbar lordosis HP:0002938 Lumbar lordosis HP:0002938 Lumbar hyperlordosis HP:0002938 Increased lumbar lordosis HP:0002938 Exaggerated lumbar lordosis HP:0002938 Hemivertebrae HP:0002937 Hemivertebra HP:0002937 Loss of distal sensation HP:0002936 Distal sensory loss, upper and lower limbs HP:0002936 Distal sensory loss HP:0002936 Distal sensory impairment of the lower extremities HP:0002936 Distal sensory impairment in lower limbs HP:0002936 Distal sensory impairment HP:0002936 Distal sensation loss HP:0002936 Decreased distal sensation HP:0002936 Ventral hernia HP:0002933 Aldehyde oxidase deficiency HP:0002932 Thyroid hormone resistance HP:0002930 Thyroid hormone receptor defect HP:0002930 Resistance to thyroid hormone HP:0002930 End-organ unresponsiveness to thyroid hormone HP:0002930 Leydig cell insensitivity to gonadotropin HP:0002929 Pyruvate dehydrogenase complex deficiency HP:0002928 Decreased activity of the pyruvate dehydrogenase (PDH) complex HP:0002928 Histidinuria HP:0002927 Abnormality of thyroid physiology HP:0002926 Abnormal thyroid function HP:0002926 Thyroid-stimulating hormone excess HP:0002925 TSH excess HP:0002925 Increased thyroid-stimulating hormone HP:0002925 Increased serum thyroid-stimulating hormone HP:0002925 High TSH HP:0002925 Elevated thyroid stimulating hormone levels HP:0002925 Elevated thyroid stimulating hormone HP:0002925 Decreased serum aldosterone HP:0002924 Decreased circulating aldosterone level HP:0002924 Decreased aldosterone HP:0002924 Rheumatoid factor positive HP:0002923 Spinal fluid protein elevated HP:0002922 Increased protein in csf HP:0002922 Increased CSF protein HP:0002922 Elevated csf protein HP:0002922 Elevated cerebrospinal fluid protein HP:0002922 Cerebrospinal fluid with increased protein HP:0002922 Cerebrospinal fluid protein increased HP:0002922 Abnormality of the cerebrospinal fluid HP:0002921 Abnormality of the CSF HP:0002921 Abnormal CSF findings HP:0002921 Decreased circulating ACTH level HP:0002920 Ketonuria HP:0002919 Ketonaciduria HP:0002919 Ketoaciduria HP:0002919 Acetonuria HP:0002919 Hypermagnesemia HP:0002918 Hypomagnesemia HP:0002917 Abnormality of chromosome segregation HP:0002916 Increased urinary chloride HP:0002914 Hyperchloridura HP:0002914 Myoglobinuria HP:0002913 Methylmalonic acidemia HP:0002912 Subclinical abnormal liver function tests HP:0002910 Increased transaminases HP:0002910 Increased liver function tests HP:0002910 Increased liver enzymes HP:0002910 Elevated transaminases HP:0002910 Elevated serum transaminases HP:0002910 Elevated liver function tests HP:0002910 Elevated liver enzymes HP:0002910 Elevated hepatic transaminases HP:0002910 Abnormal liver function tests HP:0002910 Abnormal liver function HP:0002910 Abnormal liver enzymes HP:0002910 Generalized nonspecific aminoaciduria HP:0002909 Generalized aminoaciduria HP:0002909 Direct hyperbilirubinemia HP:0002908 Conjugated hyperbilirubinemia HP:0002908 Microscopic hematuria HP:0002907 Microhematuria HP:0002907 Hyperphosphatemia HP:0002905 Hyperbilirubinemia HP:0002904 Hyponatremia HP:0002902 Hypocalcemia HP:0002901 Hypocalcaemia HP:0002901 Hypokalemia HP:0002900 Embryonal tumors HP:0002898 Embryonal neoplasm HP:0002898 Embryonal neoplasia HP:0002898 Parathyroid adenomas HP:0002897 Parathyroid adenoma HP:0002897 Neoplasm of the liver HP:0002896 Liver cancer HP:0002896 Thyroid papillary carcinoma HP:0002895 Papillary thyroid carcinoma HP:0002895 Papillary carcinoma of thyroid HP:0002895 increased risk of pancreatic cancer HP:0002894 Pancreatic cancer HP:0002894 Neoplasm of the pancreas HP:0002894 Neoplasia of the pancreas HP:0002894 Cancer of the pancreas HP:0002894 Pituitary adenoma HP:0002893 Uterine leiomyosarcoma HP:0002891 Thyroid carcinoma HP:0002890 Ependymoma HP:0002888 Vagal paraganglioma HP:0002886 Vagal nerve tumors (glomus vagale) HP:0002886 Vagal nerve tumors HP:0002886 Glomus vagale paraganglioma HP:0002886 Medulloblastoma HP:0002885 Hepatoblastoma HP:0002884 Hyperventilation HP:0002883 Sudden episodic apnea HP:0002882 Respiratory difficulties HP:0002880 Anisospondyly HP:0002879 Respiratory failure HP:0002878 Nocturnal hypoventilation HP:0002877 Hyperpnea, episodic HP:0002876 Episodic tachypnea HP:0002876 Exertional dyspnea HP:0002875 Episodic apnea induced by febrile illness or stress HP:0002872 Apneic episodes precipitated by illness, fatigue, stress HP:0002872 Central apnoea HP:0002871 Central apnea HP:0002871 Intracellular accumulation of autofluorescent lipopigment storage material HP:0003204 Negative nitroblue tetrazolium (NBT) reduction test HP:0003203 Skeletal muscle atrophy HP:0003202 Neurogenic muscular atrophy HP:0003202 Neurogenic muscle atrophy, especially in the lower limbs HP:0003202 Neurogenic muscle atrophy HP:0003202 Muscular atrophy HP:0003202 Muscle wasting HP:0003202 Muscle hypotrophy HP:0003202 Muscle atrophy, neurogenic HP:0003202 Muscle atrophy HP:0003202 Amyotrophy involving the extremities HP:0003202 Amyotrophy HP:0003202 Rhabdomyolysis HP:0003201 Ragged-red muscle fibers HP:0003200 Ragged-red fibers HP:0003200 Ragged red muscle fibers HP:0003200 Mitochondrial proliferation in muscle tissue HP:0003200 Underdeveloped muscles HP:0003199 Decreased muscle mass HP:0003199 Myopathy HP:0003198 Myopathic changes HP:0003198 shortened nose HP:0003196 Small nose HP:0003196 Short nose HP:0003196 Nasal hypoplasia HP:0003196 Hypoplastic nose HP:0003196 Short nasal bridge HP:0003194 Allergic rhinitis HP:0003193 Notched nasal alae HP:0003191 Cleft ala nasi HP:0003191 Alar clefts HP:0003191 Ala nasi, cleft HP:0003191 Long nose HP:0003189 Underdeveloped breasts HP:0003187 Breast hypoplasia HP:0003187 Inverted nipples HP:0003186 Invaginated nipples HP:0003186 Small sacroiliac notch HP:0003185 Shortened sacroiliac notches HP:0003185 Short sacroiliac notch HP:0003185 Limited hip abduction HP:0003184 Decreased hip abduction HP:0003184 Wide symphysis of pubis HP:0003183 Wide pubic symphysis HP:0003183 Shallow acetabulum HP:0003182 Shallow acetabular fossae HP:0003182 Shallow acetabular fossa HP:0003182 Shallow acetabulae HP:0003182 Shallow acetabula HP:0003182 Horizontal acetabular roofs HP:0003180 Horizontal acetabular roof HP:0003180 Horizontal acetabulae HP:0003180 Flattened acetabular roof HP:0003180 Flat acetabular roofs HP:0003180 Flat acetabular roof HP:0003180 Protrusio acetabuli HP:0003179 Protrusio acetabulae HP:0003179 Squaring of iliac bones HP:0003177 Squared iliac bones HP:0003177 Square iliac bones HP:0003177 Hypoplastic ischium HP:0003175 Hypoplastic ischii HP:0003175 Hypoplastic ischial bones HP:0003175 Hypoplastic ischia HP:0003175 Anomaly of the ischium HP:0003174 Abnormality of the ischium HP:0003174 Abnormality of the ischial bones HP:0003174 Hypoplastic pubis HP:0003173 Hypoplastic pubic bones HP:0003173 Hypoplastic pubic bone HP:0003173 Abnormality of the pubis HP:0003172 Abnormality of the pubic bones HP:0003172 Abnormality of the pubic bone HP:0003172 Acetabular abnormality HP:0003170 Abnormality of the acetabulum HP:0003170 Dibasicaminoaciduria HP:0003168 Carnosinuria HP:0003167 Increased urinary taurine HP:0003166 Increased serum parathyroid hormone HP:0003165 Elevated serum pth HP:0003165 Elevated serum parathyroid hormone level HP:0003165 Elevated serum parathyroid hormone HP:0003165 Elevated circulating parathyroid hormone (PTH) level HP:0003165 Obstructive sleep apnoea HP:0002870 Obstructive sleep apnea HP:0002870 Flared iliac wings HP:0002869 Flared iliac wing HP:0002869 Narrow iliac wings HP:0002868 Iliac abnormalities HP:0002867 Abnormality of the ilium HP:0002867 Small iliac wings HP:0002866 Hypoplastic iliac wings HP:0002866 Hypoplastic iliac wing HP:0002866 Hypoplastic iliac alae HP:0002866 Medullary thyroid carcinoma HP:0002865 Paragangliomas, head and neck HP:0002864 Paraganglioma of head and neck HP:0002864 Myelodysplastic syndrome HP:0002863 Myelodysplasia HP:0002863 Hypoplastic myelodysplasia HP:0002863 Bladder carcinoma HP:0002862 Melanoma HP:0002861 Malignant melanoma HP:0002861 Squamous cell carcinoma HP:0002860 Rhabdomyosarcoma HP:0002859 Meningioma HP:0002858 Menigioma HP:0002858 Menigiom HP:0002858 Mengiomia HP:0002858 Aspiration HP:0002835 Flared femoral metaphysis HP:0002834 Lytic cystic lesions in appendicular bones HP:0002833 Cystic angiomatosis of bone HP:0002833 Discrete calcific stippling HP:0002832 Calcific stippling HP:0002832 Long coccyx HP:0002831 Joint pains HP:0002829 Joint pain HP:0002829 Arthralgias HP:0002829 Arthralgia HP:0002829 Multiple joint contractures HP:0002828 Hip dislocation HP:0002827 Dislocation of hip HP:0002827 Dislocated hips HP:0002827 Halberd-shaped pelvis HP:0002826 Coccygeal tail HP:0002825 Caudal appendage HP:0002825 Abnormality of the femur HP:0002823 Abnormality of the femora HP:0002823 Hyperplastic femoral trochanters HP:0002822 Hyperplasia of the femoral trochanters HP:0002822 Neuropathic arthropathy HP:0002821 Abnormality of the radius HP:0002818 Abnormality of the upper limb HP:0002817 Abnormality of the arm HP:0002817 Genu recurvatum HP:0002816 Genu recurvata HP:0002816 Abnormality of the knees HP:0002815 Lower limb deformities HP:0002814 Abnormality of the lower limb HP:0002814 Abnormality of the leg HP:0002814 Limb abnormality HP:0002813 Abnormality of limb bone morphology HP:0002813 Coxa vara HP:0002812 Dumbbell-shaped metaphyses HP:0002810 Dumbbell shaped metaphyses HP:0002810 Round back HP:0002808 Kyphosis HP:0002808 Hyperkyphosis HP:0002808 Gibbus deformity HP:0002808 Accelerated bone age after puberty HP:0002805 Multiple congenital contractures HP:0002804 Arthrogryposis, congenital HP:0002804 Arthrogryposis multiplex congenita HP:0002804 Arthrogryposis multiplex HP:0002804 Arthrogryposis HP:0002804 congenital contractures HP:0002803 Congenital joint contractures HP:0002803 Congenital contracture HP:0002803 Osteolytic defects of bones HP:0002797 Osteolysis HP:0002797 Increased bone resorption HP:0002797 Functional respiratory abnormality HP:0002795 Abnormal respiratory patterns HP:0002793 Abnormal pattern of respiration HP:0002793 Reduced vital capacity HP:0002792 Decreased vital capacity HP:0002792 Respiratory depression HP:0002791 Hypoventilation HP:0002791 Alveolar hypoventilation HP:0002791 Neonatal breathing dysregulation HP:0002790 Tachypnea HP:0002789 Polypnea HP:0002789 Increased respiratory rate or depth of breathing HP:0002789 Upper respiratory tract infections, recurrent HP:0002788 Upper respiratory tract infections HP:0002788 Recurrent upper respiratory tract infections HP:0002788 Recurrent upper respiratory infections HP:0002788 Recurrent upper respiratory infection HP:0002788 Recurrent upper respiratory and lower respiratory infections HP:0002788 Frequent upper respiratory tract infections HP:0002788 Frequent upper respiratory infections HP:0002788 Tracheal ectopic calcification HP:0002787 Tracheal calcifications HP:0002787 Tracheal calcification HP:0002787 Calcification of the trachea HP:0002787 Tracheobronchomalacia HP:0002786 Recurrent lower respiratory tract infections HP:0002783 Recurrent chest infections HP:0002783 Lower respiratory tract infections HP:0002783 Chronic lung infections HP:0002783 Upper airway obstruction HP:0002781 Bronchomalacia HP:0002780 Tracheomalacia HP:0002779 Tracheal disease HP:0002778 Abnormality of the trachea HP:0002778 Tracheal stenosis HP:0002777 obsolete Small vertebral bodies HP:0002773 Small vertebrae HP:0002773 Relatively short spine HP:0002766 Stippled chondral calcification HP:0002764 Abnormal cartilage morphology HP:0002763 Multiple exostoses HP:0002762 Joint laxity, generalized HP:0002761 Generalized joint laxity HP:0002761 Osteoarthritis HP:0002758 Varying degree of multiple fractures HP:0002757 Recurrent fractures HP:0002757 Multiple spontaneous fractures HP:0002757 Multiple fractures HP:0002757 Increased fractures HP:0002757 Increased fracture rate HP:0002757 Spontaneous fractures HP:0002756 Spontaneous fracture HP:0002756 Pathologic fractures HP:0002756 Pathologic fracture HP:0002756 Osteomyelitis due to immunodeficiency HP:0002755 Osteomyelitis HP:0002754 Thin cortices HP:0002753 Thin bony cortex HP:0002753 Sparse bone trabeculae HP:0002752 Kyphoscoliosis HP:0002751 Skeletal maturation retardation HP:0002750 Retarded bone age HP:0002750 Delayed skeletal maturation HP:0002750 Delayed skeletal development HP:0002750 Delayed bone maturation HP:0002750 Delayed bone age before puberty HP:0002750 Delayed bone age HP:0002750 Osteomalacia HP:0002749 Rickets HP:0002748 Respiratory muscle weakness HP:0002747 Respiratory insufficiency due to muscle weakness HP:0002747 Respiratory failure due to muscle weakness HP:0002747 Respiratory distress due to muscle weakness HP:0002747 Decreased respiratory function due to muscle weakness HP:0002747 leukokeratosis HP:0002745 Oral leukoplakia HP:0002745 Bilateral cleft lip and palate HP:0002744 Bilateral cleft lip and cleft palate HP:0002744 Recurrent enteroviral infections HP:0002743 Recurrent Klebsiella infections HP:0002742 Klebsiella infections, recurrent HP:0002742 Recurrent Serratia marcescens infections HP:0002741 Recurrent E. coli infections HP:0002740 E coli infections, recurrent HP:0002740 E coli infections HP:0002740 Underdeveloped frontal sinuses HP:0002738 Hypoplastic frontal sinuses HP:0002738 Thick skull base HP:0002737 Abnormality of the lymph nodes HP:0002733 Abnormal lymph node histology HP:0002733 Small lymph nodes HP:0002732 Lymph node hypoplasia HP:0002732 Defective lymphocyte apoptosis HP:0002731 Chronic noninfectious lymphadenopathy HP:0002730 Follicular hyperplasia HP:0002729 Mucocutaneous candidiasis HP:0002728 Chronic mucocutaneous candidiasis HP:0002728 Chronic candidiasis of mucosa, skin and nails HP:0002728 Staphylococcus aureus infections, recurrent HP:0002726 Recurrent Staphylococcus aureus infections HP:0002726 Systemic lupus erythematosus HP:0002725 Recurrent Aspergillus infections HP:0002724 Aspergillus infections, recurrent HP:0002724 Absence of bactericidal oxidative 'respiratory burst' in phagocytes HP:0002723 Recurrent abscess formation HP:0002722 Immunodeficiency HP:0002721 Immune deficiency HP:0002721 Reduced IgA levels HP:0002720 Low levels of immunoglobulin A HP:0002720 IgA deficiency HP:0002720 Gamma-A globulin deficiency HP:0002720 Decreased immunoglobulin A HP:0002720 Decreased IgA HP:0002720 infections, recurrent HP:0002719 Susceptibility to infection HP:0002719 Recurrent infections HP:0002719 Predisposition to infections HP:0002719 Increased frequency of infection HP:0002719 Frequent, severe infections HP:0002719 Frequent infections HP:0002719 Susceptibility to pyogenic infection HP:0002718 Recurrent pyogenic infections HP:0002718 Recurrent major bacterial infections HP:0002718 Recurrent bacterial infections HP:0002718 Prone to bacterial infection HP:0002718 Increased susceptibility to bacterial infections HP:0002718 Frequent pyogenic infections HP:0002718 Frequent bacterial infections HP:0002718 Bacterial infections, recurrent HP:0002718 Adrenal overactivity HP:0002717 Lymphadenopathy HP:0002716 Lymph node hyperplasia HP:0002716 Immunological abnormality HP:0002715 Abnormality of the immune system HP:0002715 Downturned mouth HP:0002714 Downturned corners of the mouth HP:0002714 Downturned corners of mouth HP:0002714 Widened long bone metaphyses HP:0003016 Wide metaphyses HP:0003016 Metaphyseal widening HP:0003016 marked metaphyseal flaring of long bones HP:0003015 Splayed metaphyses HP:0003015 Metaphyseal splaying HP:0003015 Metaphyseal flaring of long bones HP:0003015 Metaphyseal flaring HP:0003015 Flared, widened metaphyses HP:0003015 Flared metaphysis HP:0003015 Bulging epiphyses HP:0003013 Muscular abnormality HP:0003011 Abnormality of the musculature HP:0003011 Prolonged bleeding time HP:0003010 Increased bleeding time HP:0003010 Enhanced neurotoxicity of vincristine HP:0003009 Neuroblastoma HP:0003006 Ganglioneuroma HP:0003005 Colon cancer HP:0003003 Breast carcinoma HP:0003002 Breast cancer HP:0003002 Glomus jugulare tumors HP:0003001 Glomus jugulare tumor HP:0003001 Glomus jugular tumor HP:0003001 Patellar dislocation HP:0002999 Dislocation of patella HP:0002999 Dislocated patellae HP:0002999 Abnormality of the ulna HP:0002997 Restricted elbow motion HP:0002996 Limited elbow movement HP:0002996 Limited elbow mobility HP:0002996 Decreased elbow mobility HP:0002996 Abnormality of the tibia HP:0002992 Abnormality of the fibula HP:0002991 Fibular aplasia HP:0002990 Absent-hypoplastic fibulae HP:0002990 Absent fibulae HP:0002990 Elbow flexion deformity HP:0002987 Elbow flexion contractures HP:0002987 Elbow flexion contracture HP:0002987 Elbow contractures HP:0002987 Elbow contracture HP:0002987 Contractures of the elbows HP:0002987 Contractures of elbows HP:0002987 Radial bowing HP:0002986 Bowed radius HP:0002986 Bowed radii HP:0002986 Shortening of radius HP:0002984 Short radius HP:0002984 Short radii HP:0002984 Radial ray hypoplasia HP:0002984 Radial hypoplasia HP:0002984 Hypoplastic radius HP:0002984 Exaggerated median tongue furrow HP:0002711 Commissural pit HP:0002710 Commissural lip pit HP:0002710 Prominent median palatal raphe HP:0002708 Palate teleangiectases HP:0002707 Palate telangiectasia HP:0002707 Palate telangiectases HP:0002707 Palate, high-arched HP:0002705 Narrow, highly arched palate HP:0002705 Narrow, high-arched palate HP:0002705 Narrow and high arched palate HP:0002705 High, narrow palate HP:0002705 High narrow palate HP:0002705 High arched palate HP:0002705 Abnormality of skull ossification HP:0002703 hyperplasia of foramen magnum HP:0002700 enlarged foramen magnum HP:0002700 big foramen magnum HP:0002700 Wide foramen magnum HP:0002700 Large foramen magnum HP:0002700 Abnormality of the foramen magnum HP:0002699 persistent foramina of the parietal bones HP:0002697 openings in parietal bones HP:0002697 holes in parietal bones HP:0002697 Parietal foramina HP:0002697 Abnormality of the parietal bone HP:0002696 Progressive spastic quadriparesis HP:0002478 Primitive reflexes (palmomental, snout, glabellar) HP:0002476 Primitive reflexes HP:0002476 Spina bifida cystica HP:0002475 Myelomeningocele HP:0002475 Meningomyelocele HP:0002475 Expressive language delay HP:0002474 Deficit in expressive language HP:0002474 Small cerebral cortex HP:0002472 Decreased volume of cerebral cortex HP:0002472 Nonprogressive cerebellar ataxia HP:0002470 Poor speech HP:0002465 Spastic dysarthria HP:0002464 Language impairment HP:0002463 Dense calcifications in the cerebellar dentate nucleus HP:0002461 Weakness of distal muscles HP:0002460 Muscle weakness, distal limbs, due to neuronopathy HP:0002460 Muscle weakness, distal HP:0002460 Distal muscular weakness HP:0002460 Distal muscle weakness HP:0002460 Distal limb weakness HP:0002460 Distal limb muscle weakness due to peripheral neuropathy HP:0002460 Distal limb muscle weakness HP:0002460 Dysautonomia HP:0002459 Autonomic dysfunction HP:0002459 Abnormal head movements HP:0002457 Eye of the tiger anomaly of globus pallidus HP:0002454 Abnormality of the globus pallidus HP:0002453 Limb dystonia HP:0002451 Abnormal motor neuron morphology HP:0002450 Progressive encephalopathy HP:0002448 Astrocytosis HP:0002446 Tetraplegia HP:0002445 Quadriplegia HP:0002445 Hypothalamic hamartoma HP:0002444 Dyscalculia HP:0002442 Frontolimbic dementia HP:0002439 Cerebellar malformation HP:0002438 Occipital meningocele HP:0002436 Meningocele HP:0002435 Motor aphasia HP:0002427 Anarthria HP:0002425 Long-tract signs HP:0002423 Long tract signs HP:0002423 Poor head control HP:0002421 Molar tooth sign on MRI HP:0002419 Molar tooth sign HP:0002419 'molar tooth' sign on imaging HP:0002419 'molar tooth sign' on brain imaging' HP:0002419 Abnormality of the midbrain HP:0002418 Abnormality of the mesencephalon HP:0002418 Abnormality of midbrain morphology HP:0002418 Subependymal cysts HP:0002416 Leukodystrophy HP:0002415 Spina bifida HP:0002414 Myokymia HP:0002411 Aqueductal stenosis HP:0002410 Aqueduct stenosis HP:0002410 Aqueduct of Sylvius stenosis HP:0002410 Cerebral av malformations HP:0002408 Cerebral arteriovenous malformation HP:0002408 Limb dysmetria HP:0002406 Thickened superior cerebellar peduncle HP:0002404 Thick cerebellar peduncles HP:0002404 Positive Romberg sign HP:0002403 Strokelike episodes HP:0002401 Stroke-like episodes HP:0002401 Spinal cord anterior horn cell degeneration HP:0002398 Progressive loss of anterior horn cells HP:0002398 Loss of spinal cord anterior horn cells HP:0002398 Degeneration of spinal cord anterior horn cells HP:0002398 Degeneration of anterior horn cells HP:0002398 Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord HP:0002398 Anterior horn cell loss HP:0002398 Cogwheel rigidity HP:0002396 Lower limb hyperreflexia HP:0002395 Leg hyperreflexia HP:0002395 Increased deep tendon reflexes in the lower limbs HP:0002395 Hyperreflexia in the lower limbs HP:0002395 Hyperreflexia in lower limbs HP:0002395 Brisk lower extremity reflexes HP:0002395 EEG: spike and multispike waves, 3-4 hz HP:0002392 EEG with polyspike wave complexes HP:0002392 Spinal arteriovenous malformation HP:0002390 Widened cavum septum pellucidum HP:0002389 Persistent cavum septum pellucidum HP:0002389 Large cavum septi pellucidi HP:0002389 Cavum septum pellucidum HP:0002389 Paraparesis HP:0002385 Focal seizures with impairment of consciousness or awareness HP:0002384 Dyscognitive seizures HP:0002384 Complex partial seizures HP:0002384 Complex focal seizures HP:0002384 Encephalitis HP:0002383 Aphasia HP:0002381 Muscle fasciculation HP:0002380 Fasciculations HP:0002380 Fasciculation HP:0002380 Tremor of hands HP:0002378 Tremor of hand HP:0002378 Hand tremor HP:0002378 Paraganglioma-related cranial nerve palsy HP:0002377 Psychomotor regression, progressive HP:0002376 Psychomotor regression in infants HP:0002376 Psychomotor regression beginning in infancy HP:0002376 Psychomotor regression HP:0002376 Neurodevelopmental regression HP:0002376 Mental deterioration in childhood HP:0002376 Loss of developmental milestones HP:0002376 Developmental regression HP:0002376 Hypokinesia HP:0002375 Decreased spontaneous movements HP:0002375 Decreased spontaneous movement HP:0002375 Diminished movement HP:0002374 Seizures, generalized, associated with fever HP:0002373 Seizures, febrile, in early childhood HP:0002373 Febrile seizures HP:0002373 Febrile convulsions HP:0002373 Normal interictal EEG HP:0002372 Loss of speech HP:0002371 Poor coordination HP:0002370 Visual hallucinations HP:0002367 Lower motor neuron signs HP:0002366 Lower motor neuron manifestations HP:0002366 Lower motor neuron disease HP:0002366 Abnormal lower motor neuron morphology HP:0002366 Small brainstem HP:0002365 Hypoplastic brainstem HP:0002365 Hypoplastic brain stem HP:0002365 Hypoplasia of the brainstem HP:0002365 Brainstem hypoplasia HP:0002365 Abnormality of the brainstem HP:0002363 Abnormality of brainstem morphology HP:0002363 Shuffling gait HP:0002362 Psychomotor deterioration HP:0002361 Psychomotor degeneration HP:0002361 Sleep dysfunction HP:0002360 Sleep disturbances HP:0002360 Sleep disturbance HP:0002360 Frequent falls HP:0002359 Dysphasia HP:0002357 Writer's cramp HP:0002356 Difficulty walking HP:0002355 Difficulty in walking HP:0002355 Memory loss HP:0002354 Memory impairment HP:0002354 Forgetfulness HP:0002354 Electroencephalogram abnormalities HP:0002353 Electroencephalogram abnormal HP:0002353 EEG abnormality HP:0002353 EEG abnormalities HP:0002353 Abnormal electroencephalogram HP:0002353 Abnormal EEG HP:0002353 Leukoencephalopathy HP:0002352 Cerebellar cysts HP:0002350 Cerebellar cyst HP:0002350 Simple partial seizures HP:0002349 Focal seizures without impairment of consciousness or awareness HP:0002349 Head tremor HP:0002346 Ataxic tremor HP:0002345 Action tremor HP:0002345 Progressive neurologic deterioration HP:0002344 Progressive neurodegeneration HP:0002344 Progressive mental deterioration HP:0002344 Neurologic deterioration, progressive HP:0002344 Neurologic deterioration HP:0002344 Normal-pressure hydrocephalus HP:0002343 Normal pressure hydrocephalus HP:0002343 Moderate mental retardation HP:0002342 Moderate mental deficiency HP:0002342 Mental retardation, moderate HP:0002342 Intellectual disability, moderate HP:0002342 Cervical cord compression myelopathy HP:0002341 Cervical cord compression HP:0002341 Caudate atrophy HP:0002340 Abnormality of the caudate nucleus HP:0002339 Cerebellar vermis aplasia HP:0002335 Agenesis of cerebellar vermis HP:0002335 Abnormality of the cerebellar vermis HP:0002334 Motor deterioration HP:0002333 Lack of peer relationships HP:0002332 Headache (with pheochromocytoma) HP:0002331 Paroxysmal drowsiness HP:0002330 Drowsiness HP:0002329 Transient ischemic attacks HP:0002326 Transient ischemic attack HP:0002326 TIA HP:0002326 Hydranencephaly HP:0002324 Anencephaly HP:0002323 Tremor at rest HP:0002322 Mengioma HP:0002858 Meligioma HP:0002858 Knock knees HP:0002857 Knee joint valgus deformity HP:0002857 Genua valga HP:0002857 Genu valgus HP:0002857 Genu valgum HP:0002857 Genu valga HP:0002857 Increased proportion of HLA DR+ and CD57+ T cells HP:0002853 Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors HP:0002851 Reduced IgM levels HP:0002850 IgM deficiency HP:0002850 Decreased IgM level HP:0002850 Decreased IgM HP:0002850 Lymphoid germinal center defect HP:0002849 Lymph nodes lack germinal center HP:0002849 Absence of lymph node germinal center HP:0002849 Specific anti-polysaccharide antibody deficiency HP:0002848 Depressed antibody response to polysaccharide antigens HP:0002848 Impaired memory B-cell generation HP:0002847 Abnormality of B cells HP:0002846 Abnormal B cells HP:0002846 Increased number of peripheral CD3+ T cells HP:0002845 Defective cellular immunity HP:0002843 Cellular immune defect HP:0002843 Abnormality of T cells HP:0002843 Abnormal T cells HP:0002843 Recurrent Burkholderia cepacia infections HP:0002842 Recurrent fungal infections HP:0002841 Lymphadenitis HP:0002840 Urinary bladder sphincter dysfunction HP:0002839 Sphincter disturbances HP:0002839 Sphincter disturbance HP:0002839 Recurrent bronchitis HP:0002837 Bronchitis, recurrent HP:0002837 Bladder exstrophy HP:0002836 Resting tremor HP:0002322 Vertigo HP:0002321 Dizziness HP:0002321 Cervical myelopathy HP:0002318 Unsteady gait HP:0002317 Gait instability HP:0002317 Headaches HP:0002315 Headache HP:0002315 Degeneration of the lateral corticospinal tracts HP:0002314 Degeneration of lateral corticospinal tracts HP:0002314 Spastic paraparesis HP:0002313 Clumsiness HP:0002312 Limb incoordination HP:0002311 Incoordination of limb movements HP:0002311 Incoordination HP:0002311 Difficulties in coordination HP:0002311 Orofacial dyskinesias HP:0002310 Orofacial dyskinesia HP:0002310 Chiari malformation HP:0002308 Arnold-Chiari malformation HP:0002308 Arnola-Chiari malformation HP:0002308 Sialorrhea HP:0002307 Drooling HP:0002307 Dribbling HP:0002307 Athetosis HP:0002305 Athetoid movements HP:0002305 Sparse scalp, axillary, and pubic hair HP:0002215 Sparse axillary hair HP:0002215 Sparse axillary and pubic hair HP:0002215 thin hair texture HP:0002213 thin hair shaft HP:0002213 fine hair texture HP:0002213 fine hair shaft HP:0002213 Fine hair HP:0002213 Curly hair HP:0002212 poliosis of forelock hair HP:0002211 poliosis of anterior hair HP:0002211 White forelock HP:0002211 sparse-absent scalp hair HP:0002209 Thin scalp hair HP:0002209 Sparse, thin scalp hair HP:0002209 Sparse scalp hair HP:0002209 Scalp hair, thinning HP:0002209 rough hair texture HP:0002208 coarse hair texture HP:0002208 Coarse hair HP:0002208 Diffuse reticular or finely nodular infiltrations HP:0002207 Pulmonary fibrosis HP:0002206 respiratory infections, recurrent HP:0002205 Susceptibility to respiratory infections HP:0002205 Recurrent respiratory infections HP:0002205 Multiple respiratory infections HP:0002205 Frequent respiratory infections HP:0002205 Pulmonary embolism HP:0002204 Respiratory paralysis HP:0002203 Pleural effusion HP:0002202 Pseudobulbar symptoms HP:0002200 Pseudobulbar signs HP:0002200 Seizures due to hypocalcemia HP:0002199 Hypocalcemic seizures HP:0002199 Enlarged fourth ventricle HP:0002198 Dilated fourth ventricle HP:0002198 Infrequent generalized seizures HP:0002197 Generalized seizures HP:0002197 Myelopathy HP:0002196 Dysgenesis of the cerebellar vermis HP:0002195 Limited gross motor development HP:0002194 Gross motor delay HP:0002194 Developmental delay, gross motor HP:0002194 Delayed motor skills HP:0002194 Delayed gross motor skills HP:0002194 Delayed gross motor development HP:0002194 Pseudobulbar behavioral symptoms HP:0002193 Spasticity, progressive HP:0002191 Progressive spasticity HP:0002191 Choroid plexus cyst HP:0002190 Excessive daytime sleepiness HP:0002189 Delayed CNS myelination HP:0002188 Delay in central nervous system myelination HP:0002188 Profound mental retardation HP:0002187 Mental retardation, profound HP:0002187 Intellectual disability, profound HP:0002187 Apraxias HP:0002186 Apraxia HP:0002186 Paired helical filaments HP:0002185 Neurofibrillary tangles composed of disordered microtubules in neurons HP:0002185 Neurofibrillary tangles HP:0002185 Phonophobia HP:0002183 Cerebral edema HP:0002181 Brain oedema HP:0002181 Brain edema HP:0002181 Progressive neurodegenerative disorder HP:0002180 Neurodegenerative disease HP:0002180 Neurodegeneration HP:0002180 Neuro-degenerative disease HP:0002180 Opisthotonus HP:0002179 Opisthotonos HP:0002179 Spinal cord compression HP:0002176 Tremor, postural HP:0002174 Postural tremor HP:0002174 Hypoglycemic seizures HP:0002173 Postural instability HP:0002172 Gliosis HP:0002171 Cerebral gliosis HP:0002171 Intracranial hemorrhage HP:0002170 Clonus HP:0002169 Scanning speech HP:0002168 Speech impediment HP:0002167 Speech impairment HP:0002167 Speech disorder HP:0002167 Neurological speech impairment HP:0002167 Impaired vibration sensation in the lower limbs HP:0002166 Distal vibratory impairment of the lower limbs HP:0002166 Distal sensory loss, especially vibratory sense HP:0002166 Diminished vibratory sensation in the legs HP:0002166 Decreased vibratory sense in the lower limbs HP:0002166 Decreased vibratory sense in the lower extremities HP:0002166 Decreased vibratory sense in lower limbs HP:0002166 Decreased lower limb vibratory sense HP:0002166 Pterygium formation (nails) HP:0002165 Onychodysplasia HP:0002164 Nail dysplasia HP:0002164 Dysplastic nails HP:0002164 Low posterior hairline HP:0002162 Low posterior hair line HP:0002162 Hyperlysinemia HP:0002161 Hyperhomocystinemia HP:0002160 Homocystinemia HP:0002160 Heparan sulfate excretion in urine HP:0002159 Azotemia HP:0002157 Azotaemia HP:0002157 Homocystinuria HP:0002156 Increased triglycerides HP:0002155 Increased serum triglycerides HP:0002155 Increased plasma triglycerides HP:0002155 Hypertriglyceridemia HP:0002155 Hyperglycinemia HP:0002154 Hyperglycinaemia HP:0002154 Hyperkalemia HP:0002153 Hyperproteinemia HP:0002152 Increased serum lactate HP:0002151 Increased blood lactate HP:0002151 Hypercalciuria HP:0002150 Hypercalcinuria HP:0002150 Hyperuricemia HP:0002149 Hyperuricaemia HP:0002149 Hypophosphatemia HP:0002148 Hypophosphataemia HP:0002148 Frontotemporal dementia HP:0002145 Tethered cord HP:0002144 Spinal cord disease HP:0002143 Abnormality of the spinal cord HP:0002143 Gait imbalance HP:0002141 Abnormality of equilibrium HP:0002141 Abnormality of balance HP:0002141 Ischemic stroke HP:0002140 Arrhinencephaly HP:0002139 Subarachnoid hemorrhage HP:0002138 Subarachnoid haemorrhage HP:0002138 Wide-based gait HP:0002136 Wide based gait HP:0002136 Broad-based gait HP:0002136 Broad based gait HP:0002136 Calcification of the basal ganglia HP:0002135 Basal ganglion calcification HP:0002135 Basal ganglia calcifications HP:0002135 Basal ganglia calcification HP:0002135 Basal ganglia disease HP:0002134 Anomaly of the basal ganglia HP:0002134 Abnormality of the basal ganglia HP:0002134 Status epilepticus HP:0002133 Porencephaly HP:0002132 Paroxysmal ataxia HP:0002131 Intermittent cerebellar ataxia HP:0002131 Episodic ataxia HP:0002131 Abnormal upper motor neuron morphology HP:0002127 Polymicrogyria HP:0002126 Myoclonus seizures HP:0002123 Myoclonic seizures HP:0002123 Myoclonic epilepsy, progressive HP:0002123 Generalized myoclonic seizures HP:0002123 Absence seizures HP:0002121 Cortical atrophy HP:0002120 Cerebral cortical atrophy HP:0002120 Cerebral cortex atrophy HP:0002120 Ventriculomegaly HP:0002119 Ventricular dilatation HP:0002119 Large cerebral ventricles and cisternae HP:0002119 Enlarged ventricular system HP:0002119 Enlarged ventricles HP:0002119 Enlarged cerebral ventricles HP:0002119 Dilated ventricles HP:0002119 Dilated cerebral ventricles HP:0002119 Dilated cerebral ventricle HP:0002119 Cerebral ventricular dilatation HP:0002119 Abnormality of the cerebral ventricles HP:0002118 Pulmonic infiltration HP:0002113 Pulmonary infiltrates HP:0002113 Restrictive respiratory syndrome HP:0002111 Restrictive respiratory insufficiency HP:0002111 Restrictive respiratory disease HP:0002111 Restrictive deficit on pulmonary function tests HP:0002111 Bronchiectasis HP:0002110 Bronchial disease HP:0002109 Abnormality of the bronchi HP:0002109 Spontaneous pneumothorax HP:0002108 Pneumothorax HP:0002107 Hemoptysis HP:0002105 Apnoea HP:0002104 Apneic episodes HP:0002104 Apnea HP:0002104 Absence of spontaneous respiration HP:0002104 Abnormality of the pleura HP:0002103 Pleuritis HP:0002102 Pleurisy HP:0002102 Defective lung lobation HP:0002101 Symmetrical, oval parietal bone defects HP:0002695 Symmetrical, oval defects in the parietal bone HP:0002695 hyperOstosis of skull base HP:0002694 hyperOssification of skull base HP:0002694 hyperMineralization of skull base HP:0002694 hyperCalcification of skull base HP:0002694 Sclerotic skull base HP:0002694 Sclerosis of the skull base HP:0002694 Sclerosis of skull base HP:0002694 Marked sclerosis of skull base HP:0002694 Abnormality of the skull base HP:0002693 Hypoplastic facial bones HP:0002692 obtuse basal angle of skull base HP:0002691 increased basal angle of skull base HP:0002691 flattening of the skull base HP:0002691 Platybasia HP:0002691 large pituitary fossa HP:0002690 large hypophysial fossa HP:0002690 hyperplasia of sella turcica HP:0002690 hyperplasia of pituitary fossa HP:0002690 hyperplasia of hypophysial fossa HP:0002690 big sella turcica HP:0002690 Prominent sella turcica HP:0002690 Large sella turcica HP:0002690 Enlarged sella turcica HP:0002690 missing sinuses HP:0002689 missing paranasal sinuses HP:0002689 aplasia of paranasal sinuses HP:0002689 absence of paranasal sinuses HP:0002689 Absent paranasal sinuses HP:0002689 Absent frontal sinuses HP:0002688 Absent frontal sinus HP:0002688 Absence of frontal sinuses HP:0002688 Abnormality of frontal sinus HP:0002687 Prenatal maternal abnormality HP:0002686 Thickening of the calvaria HP:0002684 Thickened cranium HP:0002684 Thickened cranial vault HP:0002684 Thickened calvarium HP:0002684 Thickened calvaria HP:0002684 Thickened calcaria HP:0002684 Thick calvarium HP:0002684 Thick calvaria HP:0002684 Increased calvarial thickness HP:0002684 Calvarium thickened HP:0002684 Calvarial thickening HP:0002684 abnormality of the skull cap HP:0002683 Abnormality of the calvaria HP:0002683 Broad skull HP:0002682 Deformed sella turcica HP:0002681 omega shaped sella turcica HP:0002680 omega shaped pituitary fossa HP:0002680 omega shaped hypophysial fossa HP:0002680 hour glass shaped sella turcica HP:0002680 J-shaped sella turcica HP:0002680 J-shaped sella HP:0002680 J-shaped pituitary fossa HP:0002680 J-shaped hypophysial fossa HP:0002680 anomaly of the pituitary fossa HP:0002679 anomaly of the hypophysial fossa HP:0002679 abnormality of the pituitary fossa HP:0002679 abnormality of the hypophysial fossa HP:0002679 Anomaly of the sella turcica HP:0002679 Abnormality of the sella turcica HP:0002679 Skull asymmetry HP:0002678 stenosis of foramen magnum HP:0002677 narrow foramen magnum HP:0002677 little foramen magnum HP:0002677 hypoplasia of foramen magnum HP:0002677 Small foramen magnum HP:0002677 Foramen magnum stenosis HP:0002677 trilobar skull shape HP:0002676 trilobar cranium shape HP:0002676 cloverleaf skull shape HP:0002676 cloverleaf cranium shape HP:0002676 Kleeblattschaedel HP:0002676 Cloverleaf skull HP:0002676 Coxa valga deformity HP:0002673 Coxa valga HP:0002673 Gastrointestinal carcinoma HP:0002672 Basalioma HP:0002671 Basal cell nevus HP:0002671 Basal cell epithelioma HP:0002671 Basal cell carcinomas HP:0002671 Basal cell carcinoma HP:0002671 Osteosarcoma HP:0002669 Osteogenic sarcoma HP:0002669 Paragangliomas HP:0002668 Paraganglioma HP:0002668 Carotid body tumors HP:0002668 Wilms tumor HP:0002667 Wilm's tumor HP:0002667 Nephroblastoma (Wilms tumor) HP:0002667 Nephroblastoma HP:0002667 Pheochromocytoma HP:0002666 Lymphoma HP:0002665 Oncology HP:0002664 Oncological abnormality HP:0002664 Neoplasm HP:0002664 Neoplasia HP:0002664 Cancer HP:0002664 Epiphyseal ossification delay HP:0002663 Detailed epiphyseal ossification HP:0002663 Delayed opacification of the epiphyses HP:0002663 Delayed epiphyseal ossification HP:0002663 Delayed epiphyseal maturation HP:0002663 Painless fractures due to injury HP:0002661 Increased tendency to fractures HP:0002659 Increased susceptibility to fractures HP:0002659 Increased bone fragility HP:0002659 Bone fragility HP:0002659 Abnormal susceptibility to fractures HP:0002659 Spondylometaphyseal dysplasia HP:0002657 Epiphyseal dysplasia HP:0002656 Spondyloepiphyseal dysplasia tarda HP:0002655 Spondyloepiphyseal dysplasia HP:0002655 Multiple epiphyseal dysplasia HP:0002654 Bone pain HP:0002653 Skeletal dysplasia HP:0002652 Spondyloepimetaphyseal dysplasia HP:0002651 Scoliosis HP:0002650 Abnormality of calvarial morphology HP:0002648 Aortic dissection HP:0002647 islands of bone within cranial sutures HP:0002645 intrasutural bones HP:0002645 extra bones within cranial sutures HP:0002645 Wormian bones HP:0002645 Intra sutural bones HP:0002645 Abnormality of the pelvic girdle HP:0002644 Abnormality of pelvic girdle bone morphology HP:0002644 Respiratory distress, neonatal HP:0002643 Newborn respiratory distress HP:0002643 Neonatal respiratory distress HP:0002643 Infantile respiratory distress HP:0002643 Arteriovenous fistulas of celiac and mesenteric vessels HP:0002642 Peripheral thrombosis HP:0002641 Hypertension associated with pheochromocytoma HP:0002640 Budd-Chiari syndrome HP:0002639 Superficial thrombophlebitis HP:0002638 Cerebral ischemia HP:0002637 Aneurysm of an abdominal artery HP:0002636 Atheromatosis HP:0002635 Arteriosclerosis HP:0002634 Vasculitis HP:0002633 Low-to-normal blood pressure HP:0002632 Ascending aortic aneurysm HP:0002631 Fat malabsorption HP:0002630 Gastrointestinal arteriovenous malformation HP:0002629 Right aortic arch with mirror image branching HP:0002627 Venous varicosities of celiac and mesenteric vessels HP:0002626 Multiple deep venous thrombosis HP:0002625 Deep venous thrombosis HP:0002625 Deep vein thrombosis HP:0002625 Venous abnormality HP:0002624 Overriding aorta HP:0002623 Dextroposition of aorta HP:0002623 Dissecting aortic aneurysm HP:0002622 Atherosclerosis HP:0002621 Varicose veins HP:0002619 Aneurysms HP:0002617 Aneurysmal disease HP:0002617 Aneurysm HP:0002617 Arterial hypotension HP:0002615 Hepatic periportal necrosis HP:0002614 Primary biliary cirrhosis HP:0002613 Biliary cirrhosis HP:0002613 Congenital hepatic fibrosis HP:0002612 Cholestatic liver disease HP:0002611 Celiac sprue HP:0002608 Celiac disease HP:0002608 Fecal incontinence HP:0002607 Bowel incontinence HP:0002607 Anal incontinence HP:0002607 Hepatic necrosis HP:0002605 Gastrointestinal telangiectasia HP:0002604 Paresis of extensor muscles of the big toe HP:0002601 Hyporeflexia/areflexia in lower limbs HP:0002600 Hyporeflexia, lower limbs HP:0002600 Hyporeflexia of the lower limbs HP:0002600 Hyporeflexia of lower limbs HP:0002600 Hyporeflexia in lower limbs HP:0002600 Head titubation HP:0002599 Vascular abnormalities HP:0002597 Abnormality of the vasculature HP:0002597 Ileus HP:0002595 Pancreatic hypoplasia HP:0002594 Hypoplastic pancreas HP:0002594 Intestinal lymphangiectasia HP:0002593 Stomach ulcer HP:0002592 Gastric ulcer HP:0002592 Voracious appetite HP:0002591 Polyphagia HP:0002591 Increased appetite HP:0002591 Hyperphagia HP:0002591 Paralytic ileus HP:0002590 Gastrointestinal atresia HP:0002589 Duodenal ulcer HP:0002588 Projectile vomiting HP:0002587 Peritonitis HP:0002586 Inflammation of the peritoneum HP:0002586 Abnormality of the peritoneum HP:0002585 Intestinal hemorrhage HP:0002584 Intestinal bleeding HP:0002584 Colitis HP:0002583 Chronic atrophic gastritis HP:0002582 Volvulus HP:0002580 Gastrointestinal dysmotility HP:0002579 Gastroparesis HP:0002578 Abnormality of the stomach HP:0002577 Intussusception HP:0002576 Tracheoesophageal fistula HP:0002575 Intermittent abdominal pain HP:0002574 Episodic abdominal pain HP:0002574 Recurrent rectal bleeding HP:0002573 Rectal bleeding HP:0002573 Hematochezia HP:0002573 Bloody diarrhea HP:0002573 Frequent vomiting HP:0002572 Episodic vomiting HP:0002572 Achalasia of the esophagus HP:0002571 Achalasia HP:0002571 Steatorrhea HP:0002570 Malrotation HP:0002566 Intestinal malrotation HP:0002566 Gut malrotation HP:0002566 obsolete Malformation of the heart and great vessels HP:0002564 Congenital heart disease HP:0002564 Congenital heart defects HP:0002564 Congenital heart defect HP:0002564 Cardiovascular malformations HP:0002564 Constrictive pericarditis HP:0002563 Low-set nipples HP:0002562 Athelia HP:0002561 Absent nipples HP:0002561 Absent nipple HP:0002561 accessory mamillas HP:0002558 accessory mamilla HP:0002558 Supernumerary nipples HP:0002558 Supernumerary nipple HP:0002558 Accessory nipples HP:0002558 Accessory nipple HP:0002558 Small nipples HP:0002557 Nipple hypoplasia HP:0002557 Hypoplastic nipples HP:0002557 Absent pubic hair HP:0002555 Thick, flared eyebrows HP:0002553 Highly arched eyebrow HP:0002553 High-arched eyebrows HP:0002553 High, rounded eyebrows HP:0002553 High arched eyebrows HP:0002553 Broad, arched eyebrows HP:0002553 Bowed and upward slanting eyebrows HP:0002553 Arched eyebrows HP:0002553 Trichodysplasia HP:0002552 Generalized trichodysplasia HP:0002552 Absent facial hair HP:0002550 Deficit in phonologic short-term memory HP:0002549 Parkinsonism with favorable response to dopaminergic medication HP:0002548 Favorable response to levodopa HP:0002548 Incomprehensible speech HP:0002546 Patchy demyelination of subcortical white matter HP:0002545 Retrocollis HP:0002544 Olivopontocerebellar degeneration HP:0002542 Olivopontocerebellar atrophy HP:0002542 Non-ambulatory HP:0002540 Inability to walk HP:0002540 Neocortical dysplasia HP:0002539 Cortical dysplasia HP:0002539 Abnormality of the cerebral cortex HP:0002538 Cerebral gyral anomalies HP:0002536 Abnormal gyration HP:0002536 Abnormal cortical gyration HP:0002536 Abnormal posturing HP:0002533 Axial dystonia HP:0002530 Neuronal loss in central nervous system HP:0002529 Neuronal loss HP:0002529 Granulovacuolar degeneration HP:0002528 Falls HP:0002527 Deficit in nonword repetition HP:0002526 Cataplexy HP:0002524 Areflexia, lower limbs HP:0002522 Areflexia of the lower limbs HP:0002522 Areflexia of lower limbs HP:0002522 Areflexia in lower limbs HP:0002522 Absent lower limb tendon reflexes HP:0002522 Hypsarrhythmia by EEG HP:0002521 Hypsarrhythmia HP:0002521 Hypnagogic hallucinations HP:0002519 Periventricular white matter abnormalities HP:0002518 Abnormality of the periventricular white matter HP:0002518 Intracranial pressure elevation HP:0002516 Intracranial hypertension HP:0002516 Increased intracranial pressure HP:0002516 Waddling gait HP:0002515 'Waddling' gait HP:0002515 Intracranial calcifications HP:0002514 Intracranial calcification HP:0002514 Intracerebral calcifications HP:0002514 Cerebral calcification HP:0002514 Brain calcification HP:0002514 Brain stem compression HP:0002512 Late-onset form of familial Alzheimer disease HP:0002511 Alzheimer disease HP:0002511 Spastic tetraplegia HP:0002510 Spastic quadriplegia HP:0002510 Limb hypertonia HP:0002509 Malformation of brainstem structures HP:0002508 Brainstem hypoplasia/dysplasia HP:0002508 Brainstem dysplasia HP:0002508 Semilobar holoprosencephaly HP:0002507 Diffuse cerebral atrophy HP:0002506 Cerebral atrophy, diffuse HP:0002506 Progressive inability to walk HP:0002505 Calcification of the small brain vessels HP:0002504 Spinocerebellar tract degeneration HP:0002503 Spinocerebellar degeneration HP:0002503 Degeneration of the spinocerebellar tracts HP:0002503 Spasticity of pharyngeal muscles HP:0002501 White matter alterations HP:0002500 White matter abnormalities HP:0002500 Leukoaraiosis HP:0002500 Cortical white matter abnormalities seen on MRI HP:0002500 Cerebral white matter abnormalities HP:0002500 Abnormality of the cerebral white matter HP:0002500 Abnormality of subcortical white matter HP:0002500 Spastic ataxia HP:0002497 Impaired vibratory sense HP:0002495 Impaired vibratory sensation HP:0002495 Diminished vibratory sense HP:0002495 Decreased vibratory sense HP:0002495 Decreased vibration sense HP:0002495 Abnormal rapid eye movement sleep HP:0002494 Abnormal rapid eye movement (REM) sleep HP:0002494 Upper motor neuron dysfunction HP:0002493 Pyramidal tract dysfunction HP:0002493 Corticospinal tract dysfunction HP:0002493 Involvement of the corticospinal pathways HP:0002492 Abnormality of the corticospinal tract HP:0002492 Spasticity of the facial muscles HP:0002491 Spasticity of facial muscles HP:0002491 Increased cerebrospinal fluid lactate HP:0002490 Increased CSF lactic acid HP:0002490 Increased CSF lactate HP:0002490 Acute leukemias HP:0002488 Acute leukemia HP:0002488 Hyperkinesis HP:0002487 Hyperkinesia HP:0002487 Myotonia HP:0002486 Delayed relaxation of muscle fibers after contraction HP:0002486 Bulbar signs HP:0002483 Hepatic encephalopathy HP:0002480 Progressive spastic quadriplegia HP:0002478 Abnormal lung lobation HP:0002101 Recurrent aspiration pneumonia HP:0002100 Reactive airway disease HP:0002099 Bronchial asthma HP:0002099 Asthma HP:0002099 Respiratory distress HP:0002098 Pulmonary emphysema HP:0002097 Emphysema HP:0002097 Shortness of breath HP:0002094 Dyspnea HP:0002094 progressive respiratory failure HP:0002093 Respiratory insufficiency HP:0002093 Respiratory impairment HP:0002093 Respiratory function loss HP:0002093 Pulmonary hypertension HP:0002092 Pulmonary artery hypertension HP:0002092 Pulmonary arterial hypertension HP:0002092 Primary pulmonary hypertension HP:0002092 Restrictive lung disease HP:0002091 Pneumonia HP:0002090 Pulmonary hypoplasia HP:0002089 Lung hypoplasia HP:0002089 Hypoplastic lungs HP:0002089 Hypoplastic lung HP:0002089 Lung disease HP:0002088 Abnormality of the lungs HP:0002088 Zollinger-Ellison syndrome HP:0002044 Esophageal stricture HP:0002043 Intractable diarrhea HP:0002041 Esophageal varix HP:0002040 Esophageal varices HP:0002040 Anorexia HP:0002039 Protein avoidance HP:0002038 Inflammatory bowel disease HP:0002037 Inflammation of the large intestine HP:0002037 Hiatus hernia HP:0002036 Hiatal hernia HP:0002036 Rectal prolapsed HP:0002035 Rectal prolapse HP:0002035 Anomaly of the rectum HP:0002034 Abnormality of the rectum HP:0002034 Poor sucking HP:0002033 Poor suck HP:0002033 Esophageal atresia HP:0002032 Anomaly of the esophagus HP:0002031 Abnormality of the esophagus HP:0002031 Recurrent diarrhea HP:0002028 Diarrhea, recurrent HP:0002028 Chronic diarrhea HP:0002028 Abdominal pain HP:0002027 Anal stenosis HP:0002025 Malabsorption HP:0002024 Intestinal malabsorption HP:0002024 Imperforate anus HP:0002023 Anal atresia HP:0002023 Pyloric stenosis HP:0002021 Gastroesophageal reflux disease HP:0002020 Gastroesophageal reflux HP:0002020 Acid reflux disease HP:0002020 Dyschezia HP:0002019 Costiveness HP:0002019 Constipation HP:0002019 Nausea HP:0002018 Nausea and vomiting HP:0002017 Swallowing difficulty HP:0002015 Swallowing difficulties HP:0002015 Poor swallowing HP:0002015 Dysphagia HP:0002015 Deglutition disorder HP:0002015 Diarrhea HP:0002014 Vomiting HP:0002013 Emesis HP:0002013 Gastrointestinal tract defects HP:0002012 Abnormality of the abdominal organs HP:0002012 Morphological abnormality of the central nervous system HP:0002011 Central nervous system disease HP:0002011 Abnormality of the central nervous system HP:0002011 Narrow maxilla HP:0002010 Potter facies HP:0002009 Frontal bossing HP:0002007 Facial clefts HP:0002006 Facial cleft HP:0002006 Large forehead HP:0002003 Prominent philtrum HP:0002002 Philtrum, deep HP:0002002 Depressed philtrum HP:0002002 Deep philtrum HP:0002002 Short columella HP:0002000 Columella, short HP:0002000 Unusual facies HP:0001999 Unusual facial appearance HP:0001999 Malformation of face HP:0001999 Funny looking face HP:0001999 Facial dysmorphism HP:0001999 Facial Dysmorphism HP:0001999 Dysmorphic facies HP:0001999 Dysmorphic facial features HP:0001999 Distortion of face HP:0001999 Distinctive facies HP:0001999 Deformity of face HP:0001999 Abnormal facial shape HP:0001999 Neonatal hypoglycemia HP:0001998 Gouty arthritis HP:0001997 Gout HP:0001997 Chronic metabolic acidosis HP:0001996 Hyperchloremic acidosis HP:0001995 Renal tubular fanconi syndrome HP:0001994 Renal Fanconi syndrome HP:0001994 'de toni-fanconi-debre' syndrome HP:0001994 Ketoacidosis HP:0001993 Organic aciduria HP:0001992 Aplastic/hypoplastic phalanges (feet) HP:0001991 Aplasia/Hypoplasia of toe HP:0001991 Absent/hypoplastic toes HP:0001991 Fetal akinesia sequence HP:0001989 Fetal akinesia HP:0001989 Early severe fetal akinesia sequence HP:0001989 hypoglycemia, recurrent HP:0001988 hypoglycaemia, recurrent HP:0001988 Recurrent hypoglycemic episodes HP:0001988 Recurrent hypoglycemia HP:0001988 Recurrent hypoglycaemia HP:0001988 Hypoglycemic episodes HP:0001988 Hyperammonemia HP:0001987 Hypertonic dehydration HP:0001986 Hyperosmolar dehydration HP:0001986 Hypoketotic hypoglycemia HP:0001985 Hypoglycemia, hypoketotic HP:0001985 Intolerance to protein HP:0001984 Reduced lymphocyte surface expression of CD43 (sialophorin) HP:0001983 Cd43 defectively expressed on surface of blood cells HP:0001983 Sea-blue histiocytosis HP:0001982 Sea-blue histiocyte HP:0001982 'Sea blue' histiocytes HP:0001982 Schistocytosis HP:0001981 Schistocytes HP:0001981 Megaloblastic bone marrow HP:0001980 Extramedullary hematopoiesis HP:0001978 Extramedullary erythropoiesis HP:0001978 Abnormal thrombosis HP:0001977 Reduced antithrombin III activity HP:0001976 Decreased antithrombin III HP:0001976 Antithrombin III deficiency HP:0001976 Anti-thrombin III deficiency HP:0001976 Reduced level of platelet glycoprotein IIb/IIIa complex HP:0001975 Glanzmann thrombasthenia HP:0001975 Decreased platelet glycoprotein IIb-IIIa HP:0001975 Leukocytosis HP:0001974 Immune thrombocytopenia HP:0001973 Idiopathic thrombocytopenic purpura HP:0001973 Autoimmune thrombocytopenia HP:0001973 Macrocytic anemia HP:0001972 Hypersplenism HP:0001971 Tubulointerstitial nephritis HP:0001970 Nephritis, Tubulointerstitial HP:0001970 Interstitial nephritis HP:0001970 Tubulointerstitial nephropathy HP:0001969 Tubulointerstitial abnormality HP:0001969 Mesangial sclerosis HP:0001967 Diffuse mesangial sclerosis glomerulopathy HP:0001967 Diffuse mesangial sclerosis HP:0001967 Mesangial abnormality HP:0001966 Abnormality of the scalp HP:0001965 Aplastic/hypoplastic metatarsals HP:0001964 Aplasia/Hypoplasia of metatarsal bones HP:0001964 Absent/hypoplastic metatarsals HP:0001964 Absent or hypoplastic metatarsal HP:0001964 Poor speech discrimination HP:0001963 Abnormal speech discrimination HP:0001963 Palpitations HP:0001962 Hypoplastic heart HP:0001961 Hypokalemic metabolic alkalosis HP:0001960 Polydipsia HP:0001959 Nonketotic hypoglycemia HP:0001958 Truncal obesity HP:0001956 Centripetal obesity HP:0001956 Unexplained fevers HP:0001955 Intermittent fever HP:0001954 Increased body temperature, episodic HP:0001954 Hyperthermia, episodic HP:0001954 Episodic fever HP:0001954 Diabetic ketosis HP:0001953 Diabetic ketoacidosis HP:0001953 Glucose tolerance decreased HP:0001952 Abnormal glucose tolerance HP:0001952 Episodic ammonia intoxication HP:0001951 Respiratory alkalosis HP:0001950 Hypokalemic alkalosis HP:0001949 Alkalosis HP:0001948 Renal tubular acidosis HP:0001947 Ketosis HP:0001946 Ketonemia HP:0001946 Pyrexia HP:0001945 Hyperthermia HP:0001945 Fever HP:0001945 Dehydration HP:0001944 Hypoglycemia HP:0001943 Hypoglycaemia HP:0001943 Metabolic acidosis HP:0001942 acidemia HP:0001941 Acidosis HP:0001941 Metabolism abnormality HP:0001939 Laboratory abnormality HP:0001939 Abnormality of metabolism/homeostasis HP:0001939 Microangiopathic hemolytic anemia HP:0001937 Microcytic anemia HP:0001935 Prolonged bleeding after minor trauma HP:0001934 Persistent bleeding after trauma HP:0001934 Frequent bleeding with trauma HP:0001934 Excessive bleeding after minor trauma HP:0001934 Subcutaneous hemorrhage HP:0001933 Hypochromic anemia HP:0001931 Hypochromic anaemia HP:0001931 Nonspherocytic hemolytic anemia HP:0001930 Reduced factor XI activity HP:0001929 Factor XI deficiency HP:0001929 increased aortic root diameter HP:0002616 Aortic root dilatation HP:0002616 Low blood pressure HP:0002615 Hypotension HP:0002615 Akinesia HP:0002304 Hemiplegia HP:0002301 Mutism HP:0002300 reduced tensile strength of hair HP:0002299 fragile hair HP:0002299 fractured hair HP:0002299 easily breakable hair HP:0002299 Brittle hair HP:0002299 Absent hair HP:0002298 red head (hair color) HP:0002297 red hair color HP:0002297 ginger hair color HP:0002297 Red hair HP:0002297 Progressive hypotrichosis HP:0002296 scalp hair loss HP:0002293 missing scalp hair HP:0002293 baldness HP:0002293 absence of scalp hair HP:0002293 Alopecia of scalp HP:0002293 male pattern baldness HP:0002292 Frontal balding (male pattern baldness) HP:0002292 Frontal balding HP:0002292 White patch HP:0002290 Poliosis HP:0002290 Patch of white hair HP:0002290 Universal alopecia HP:0002289 Alopecia, complete HP:0002289 Alopecia universalis HP:0002289 Progressive alopecia HP:0002287 towhead (hair color) HP:0002286 straw colored hair HP:0002286 sandy hair color HP:0002286 flaxen hair color HP:0002286 fair hair color HP:0002286 Light colored hair HP:0002286 Fair hair HP:0002286 Blond hair HP:0002286 Global brain atrophy HP:0002283 Generalized cerebral atrophy HP:0002283 Generalized brain atrophy HP:0002283 Diffuse brain atrophy HP:0002283 Heterotopias HP:0002282 Heterotopia HP:0002282 Gray matter heterotopias HP:0002281 Large cisterna magna HP:0002280 Enlarged cisterna magna HP:0002280 Horner's syndrome HP:0002277 Horner syndrome HP:0002277 Poor motor coordination HP:0002275 Tetraparesis HP:0002273 Quadriparesis HP:0002273 Autonomic dysregulation HP:0002271 Abnormality of the autonomic nervous system HP:0002270 Neuronal migration disorder HP:0002269 Migrational brain disorder HP:0002269 Heterotopias/abnormal migration HP:0002269 Abnormality of neuronal migration HP:0002269 Abnormal neuronal migration HP:0002269 Paroxysmal dystonia HP:0002268 Episodic dystonia HP:0002268 Increased startle response HP:0002267 Hyperekplexia HP:0002267 Exaggerated startle response HP:0002267 Exaggerated acoustic startle response HP:0002267 Focal clonic seizures HP:0002266 Large fleshy ears HP:0002265 Synonym: Cupid's bow, accentuated HP:0002263 Prominent cupid-bow of upper lip HP:0002263 Exaggerated cupid's bow HP:0002263 Cupid-bow shaped upper lip HP:0002263 Cupid bow upper lip HP:0002263 Chronic rhinitis HP:0002257 Small bowel diverticula HP:0002256 Intermittent diarrhea HP:0002254 Colonic diverticulosis HP:0002253 Colonic diverticula HP:0002253 Colon diverticula HP:0002253 Megacolon HP:0002251 Hirschsprung megacolon HP:0002251 Hirschsprung disease HP:0002251 Congenital megacolon HP:0002251 Aganglionic megacolon HP:0002251 Abnormality of the large intestine HP:0002250 Melena HP:0002249 Hematemesis HP:0002248 Duodenal atresia HP:0002247 Abnormality of the duodenum HP:0002246 Meckel diverticulum HP:0002245 Abnormality of the small intestine HP:0002244 Protein-losing enteropathy HP:0002243 Enteropathy HP:0002242 Abnormality of the intestine HP:0002242 Hepatomegaly HP:0002240 Enlarged liver HP:0002240 Gastrointestinal hemorrhage HP:0002239 Gastrointestinal bleeding HP:0002239 GI hemorrhage HP:0002239 GI haemorrhage HP:0002239 frontal cowlick HP:0002236 Upswept frontal hairline HP:0002236 Upswept frontal hair pattern HP:0002236 Upswept frontal hair HP:0002236 Frontal upsweep of hair HP:0002236 Cowlick HP:0002236 Pili canaliculi HP:0002235 Early balding HP:0002234 Patchy alopecia HP:0002232 Sparse body hair HP:0002231 Generalized hirsutism HP:0002230 Alopecia areata HP:0002229 White eyelashes HP:0002227 White eyebrow HP:0002226 sparse to absent pubic hair HP:0002225 Sparse pubic hair HP:0002225 Decreased sexual hair HP:0002225 nappy hair texture HP:0002224 kinky hair texture HP:0002224 afro-textured hair HP:0002224 Woolly hair HP:0002224 Absent eyebrows HP:0002223 Absent eyebrow HP:0002223 Absent axillary hair HP:0002221 Melanin pigment aggregation in hair shafts HP:0002220 Facial hypertrichosis HP:0002219 Silvery-gray hair HP:0002218 Silver-gray hair color HP:0002218 Silver-gray hair HP:0002218 slow speed of hair growth HP:0002217 slow rate of hair growth HP:0002217 Slow-growing hair HP:0002217 Slow growing hair HP:0002217 Premature hair graying HP:0002216 Premature greying HP:0002216 Premature graying of the hair HP:0002216 Premature graying of hair HP:0002216 Premature graying HP:0002216 Early graying HP:0002216 sparse to absent axillary hair HP:0002215 Haemorrhagic disorders HP:0001928 Coagulation abnormality HP:0001928 Coagulation abnormalities HP:0001928 Blood coagulation disorder HP:0001928 Abnormality of coagulation HP:0001928 Abnormal blood coagulation studies HP:0001928 Red cell acanthocytosis HP:0001927 Acanthocytosis HP:0001927 Acanthocytes HP:0001927 Sideroblastic anemia HP:0001924 Hypersideremic anemia HP:0001924 Reticulocytosis HP:0001923 Increased reticulocytes HP:0001923 Increased reticulocyte count HP:0001923 Vacuolated lymphocytes HP:0001922 Vacuolated blood lymphocytes HP:0001922 Enlarged lysosomal vacuoles in lymphocytes HP:0001922 Renal artery stenosis HP:0001920 Acute renal failure HP:0001919 Acute kidney injury HP:0001919 Renal amyloidosis HP:0001917 Aplastic anemia HP:0001915 Granulocytopenia HP:0001913 Abnormality of basophils HP:0001912 Abnormality of neutrophil HP:0001911 Abnormality of granulocytes HP:0001911 Thromboembolic disease HP:0001907 Embolism and thrombosis HP:0001907 thrombocytopenia, congenital HP:0001905 Congenital thrombocytopenia HP:0001905 Autoimmune neutropenia HP:0001904 Decreased hemoglobin HP:0001903 Anemia HP:0001903 Anaemia HP:0001903 Giant platelets HP:0001902 Polycythemia HP:0001901 Erythrocytosis HP:0001901 Increased hemoglobin HP:0001900 Increased hematocrit HP:0001899 Increased red blood cell mass HP:0001898 Normocytic anemia HP:0001897 Reticulocytopenia HP:0001896 Normochromic anemia HP:0001895 Thrombocytosis HP:0001894 Thrombocythemia HP:0001894 Thrombocythaemia HP:0001894 Increased platelet count HP:0001894 Hemorrhagic diathesis HP:0001892 Bleeding tendency HP:0001892 Bleeding diathesis HP:0001892 Abnormal bleeding HP:0001892 Iron-deficiency anemia HP:0001891 Iron deficiency anemia HP:0001891 Hemolytic anemia, autoimmune HP:0001890 Autoimmune hemolytic anemia HP:0001890 Autoimmune haemolytic anaemia HP:0001890 Megaloblastic anemia HP:0001889 Lymphopenia HP:0001888 Lymphocytopenia HP:0001888 Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) HP:0001886 Short second toe HP:0001885 Short 2nd toe HP:0001885 Talipes calcaneovalgus HP:0001884 Pes calcaneovarus HP:0001884 Talipes foot deformities HP:0001883 Talipes HP:0001883 Leukopenia HP:0001882 Abnormality of leukocytes HP:0001881 Abnormal leukocyte function HP:0001881 Eosinophilia HP:0001880 Abnormality of eosinophils HP:0001879 Increased hemolysis HP:0001878 Hemolytic anemia HP:0001878 Haemolytic anaemia HP:0001878 Abnormality of red blood cells HP:0001877 Abnormality of erythroid lineage cell HP:0001877 Abnormality of erythrocytes HP:0001877 Pancytopenia HP:0001876 Peripheral neutropenia HP:0001875 Neutropenia HP:0001875 Abnormality of polymorphonuclear neutrophils HP:0001874 Abnormality of neutrophils HP:0001874 Thrombocytopenia HP:0001873 Low platelet count HP:0001873 Thrombasthenia HP:0001872 Platelet abnormalities HP:0001872 Blood platelet disease HP:0001872 Abnormality of thrombocytes HP:0001872 Hematological abnormality HP:0001871 Hematologic disease HP:0001871 Abnormality of the hematopoietic system HP:0001871 Abnormality of the haematopoietic system HP:0001871 Abnormality of blood and blood-forming tissues HP:0001871 Acroosteolysis of distal phalanges (feet) HP:0001870 Deep plantar creases HP:0001869 Autoamputation (feet) HP:0001868 Clinodactyly of the 5th toe HP:0001864 Toe clinodactyly HP:0001863 Clinodactyly of feet HP:0001863 Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) HP:0001862 Distal symphalangism (feet) HP:0001859 Short distal phalanx of toe HP:0001857 Hypoplastic distal phalanges (feet) HP:0001857 Podagra HP:0001854 Gout (feet) HP:0001854 Bifid terminal phalanx of toe HP:0001853 Bifid distal phalanx of toe HP:0001853 Bifid distal phalanges of toes HP:0001853 Widened gap first and second toe HP:0001852 Widened gap 1st-2nd toes HP:0001852 Widely spaced first and second toes HP:0001852 Widely spaced 1st-2nd toes HP:0001852 Wide space between first and second toes HP:0001852 Wide space between 1st, 2nd ties HP:0001852 Space between great toe and second toe HP:0001852 Sandal gap between first and second toes HP:0001852 Sandal gap HP:0001852 Increased space between first and second toes HP:0001852 Gap between first and second toe HP:0001852 Gap between 1st and 2nd toes HP:0001852 Abnormality of the tarsal bones HP:0001850 Abnormal tarsals HP:0001850 Oligodactyly of feet HP:0001849 Oligodactyly (feet) HP:0001849 Missing toes HP:0001849 Valgus position of the calcaneus HP:0001848 Calcaneovalgus deformity HP:0001848 Calcaneovalgus Foot HP:0001848 Calcaneovalgus HP:0001848 Long hallux HP:0001847 Long halluces HP:0001847 Large halluces HP:0001847 Increased length of the hallux HP:0001847 Overriding toes HP:0001845 Overlapping toes HP:0001845 Overlapping toe HP:0001845 Crossover toe HP:0001845 Abnormality of the hallux HP:0001844 Abnormalities of the hallux HP:0001844 Acroosteolysis (feet) HP:0001842 Preaxial polydactyly, feet HP:0001841 Preaxial polydactyly of the feet HP:0001841 Preaxial polydactyly of foot HP:0001841 Preaxial polydactyly of feet HP:0001841 Preaxial polydactyly (feet) HP:0001841 Preaxial hallucal polydactyly HP:0001841 Preaxial foot polydactyly HP:0001841 Polydactyly affecting the hallux HP:0001841 Partial/complete duplication of the phalanges of the big toe HP:0001841 Metatarsus varus HP:0001840 Metatarsus adductus HP:0001840 Metatarsus adductovarsus HP:0001840 Intoe HP:0001840 Forefoot varus HP:0001840 Split-foot HP:0001839 Split foot HP:0001839 Lobster-claw foot deformity HP:0001839 Ectrodactyly (feet) HP:0001839 Rockerbottom feet HP:0001838 Rocker-bottom feet HP:0001838 Rocker bottom foot HP:0001838 Rocker bottom feet HP:0001838 Congenital vertical talus HP:0001838 Broad toe HP:0001837 Camptodactyly of toe HP:0001836 Camptodactyly (feet) HP:0001836 long feet HP:0001833 large feet HP:0001833 Long foot HP:0001833 Disproportionately large feet HP:0001833 Abnormality of the metatarsal bones HP:0001832 Short toes HP:0001831 Short toe HP:0001831 Short phalanges (feet) HP:0001831 Hypoplastic toes HP:0001831 Hypoplastic or dysplastic toes HP:0001831 Hypoplasia of the toe HP:0001831 Brachydactyly of the foot HP:0001831 Posterior polydactyly of foot HP:0001830 Postaxial polydactyly of foot HP:0001830 Postaxial polydactyly of feet HP:0001830 Postaxial foot polydactyly HP:0001830 Polydactyly affecting the 5th toe HP:0001830 Fibular polydactyly HP:0001830 Polydactyly of the foot HP:0001829 Polydactyly (feet) HP:0001829 Foot polydactyly HP:0001829 Duplication of bones of the toes HP:0001829 Genital tract atresia HP:0001827 Weight loss HP:0001824 Lateral deviation of halluces HP:0001822 Lateral deviation of great toe HP:0001822 Hallux valgus HP:0001822 Wide fingernails HP:0001821 Broad nail HP:0001821 Broad fingernails HP:0001821 Leukonychia HP:0001820 Paronychia HP:0001818 Anonychia of fingernails HP:0001817 Absent fingernail HP:0001817 Thin nails HP:0001816 Thin nail HP:0001816 Deep-set nails HP:0001814 Tubular fingernails HP:0001812 Hyperconvex fingernails HP:0001812 Dystrophic toenails HP:0001810 Dystrophic toenail changes HP:0001810 Dystrophic toenail HP:0001810 Split nail HP:0001809 Longitudinal splitting of nail HP:0001809 Fragile nails HP:0001808 Brittle nails HP:0001808 Ridged nails HP:0001807 Ridged nail HP:0001807 Nail ridging HP:0001807 Longitudinal ridging HP:0001807 Abnormality of the lung HP:0002088 Abnormality of the upper respiratory tract HP:0002087 Respiratory abnormality HP:0002086 Abnormality of the respiratory system HP:0002086 Posterior encephalocele HP:0002085 Occipital meningoencephalocele HP:0002085 Occipital encephalocele HP:0002085 Encephalocele HP:0002084 Cranium bifidum HP:0002084 Bifid skull HP:0002084 Migraine without aura HP:0002083 Terminal tremor HP:0002080 Intention tremor HP:0002080 Cerebellar tremor HP:0002080 Thinning of the corpus callosum HP:0002079 Thin corpus callosum HP:0002079 Small corpus callosum HP:0002079 Hypoplastic corpus callosum HP:0002079 Hypoplasia of the corpus callosum HP:0002079 Hypoplasia of corpus callosum HP:0002079 Corpus callosum hypoplasia HP:0002079 Trunk ataxia HP:0002078 Truncal ataxia HP:0002078 Migraine with aura HP:0002077 Migraine headaches HP:0002076 Migraine headache HP:0002076 Migraine HP:0002076 Intermittent migraine headaches HP:0002076 Dysdiadochokinesis HP:0002075 Dysdiadochokinesia HP:0002075 Neuronal lipopigments HP:0002074 Increased neuronal autofluorescent lipopigment HP:0002074 Progressive cerebellar ataxia HP:0002073 Progressive ataxia HP:0002073 Cerebellar ataxia, progressive HP:0002073 Choreiform movements HP:0002072 Choreic movements HP:0002072 Choreatic disease HP:0002072 Chorea HP:0002072 Extrapyramidal tract signs HP:0002071 Extrapyramidal syndrome HP:0002071 Extrapyramidal symptoms HP:0002071 Extrapyramidal signs HP:0002071 Extrapyramidal dysfunction HP:0002071 Abnormality of extrapyramidal motor function HP:0002071 Limb ataxia HP:0002070 Appendicular ataxia HP:0002070 tonic-clonic convulsions HP:0002069 tonic-clonic convulsion HP:0002069 Seizures, tonic-clonic HP:0002069 Seizures, generalized, tonic-clonic HP:0002069 Seizures, generalized tonic-clonic HP:0002069 Grand mal seizures HP:0002069 Generalized tonic-clonic seizures HP:0002069 Generalized tonic clonic seizures HP:0002069 Generalized clonic-tonic seizures HP:0002069 Generalised tonic-clonic seizures HP:0002069 Neuromuscular dysphagia HP:0002068 Bradykinesia HP:0002067 Gait ataxia HP:0002066 Ataxic gait HP:0002066 Ataxia of gait HP:0002066 Spastic gait HP:0002064 Rigidity HP:0002063 Muscle rigidity HP:0002063 Pyramidal tract disease HP:0002062 Morphological abnormality of the pyramidal tract HP:0002062 Abnormality of the pyramidal tracts HP:0002062 Lower limb spasticity HP:0002061 Abnormality of the telencephalon HP:0002060 Abnormality of the cerebrum HP:0002060 Supratentorial atrophy HP:0002059 Cerebral atrophy HP:0002059 Myopathic facies HP:0002058 Myopathic face HP:0002058 Prominent glabella HP:0002057 Glabellar abnormality HP:0002056 Abnormality of the glabella HP:0002056 Curved linear dimple below the lower lip HP:0002055 Heavy supraorbital ridges HP:0002054 Macroorchidism, postpubertal HP:0002050 Renal tubular acidosis, type II HP:0002049 Renal tubular acidosis, proximal HP:0002049 Proximal tubular acidosis HP:0002049 Proximal renal tubular acidosis HP:0002049 Renal cortical atrophy HP:0002048 Malignant hyperthermia with anesthesia HP:0002047 Malignant hyperthermia HP:0002047 Intolerance to heat and fevers HP:0002046 Heat intolerance HP:0002046 Hypothermia HP:0002045 Grooved nails HP:0001807 Onycholysis HP:0001806 Oncholysis HP:0001806 Thickened nails HP:0001805 Thick nail HP:0001805 Onychogryposis HP:0001805 Dystrophic thickened nails HP:0001805 Hypoplastic fingernail HP:0001804 Pitted nails HP:0001803 Nail pitting HP:0001803 Nail pits HP:0001803 Anonychia of toenails HP:0001802 Absent toenails (anonychia) HP:0001802 Absent toenails HP:0001802 Absent toenail HP:0001802 Hypoplastic toenails HP:0001800 Short nails HP:0001799 Short nail HP:0001799 Aplastic nails HP:0001798 Anonychia HP:0001798 Absent nails HP:0001798 Nail overcurvature HP:0001795 Hyperconvex nail HP:0001795 Small nails HP:0001792 Small nail HP:0001792 Nail hypoplasia HP:0001792 Hypoplastic nail HP:0001792 Fetal ascites HP:0001791 Nonimmune hydrops fetalis HP:0001790 Nonimmune hydrops HP:0001790 Non-immune fetal hydrops HP:0001790 Hydrops fetalis, nonimmune HP:0001790 Hydrops fetalis, non-immune HP:0001790 Hydrops fetalis HP:0001789 Premature rupture of membranes HP:0001788 Abnormal delivery HP:0001787 Slender feet HP:0001786 Narrow foot HP:0001786 Ankle swelling HP:0001785 Widened metatarsal shaft HP:0001783 Broad metatarsals HP:0001783 Broad metatarsal HP:0001783 Bulbous tips of toes HP:0001782 Abnormality of toe HP:0001780 Abnormalities of the toes HP:0001780 Bilateral talipes equinovarus HP:0001776 Bilateral clubfoot HP:0001776 Bilateral clubfeet HP:0001776 Tarsal osteovalgus HP:0001775 Small feet HP:0001773 Short foot HP:0001773 Short feet HP:0001773 Hypoplastic feet HP:0001773 Talipes equinovalgus HP:0001772 Equinovalgus deformity HP:0001772 Tight achilles tendon HP:0001771 Shortening of the achilles tendon HP:0001771 Contractures of the Achilles tendon HP:0001771 Achilles tendon contractures HP:0001771 Achilles tendon contracture HP:0001771 Toe syndactyly HP:0001770 Syndactyly of toes HP:0001770 Syndactyly (feet) HP:0001770 Broad foot HP:0001769 Broad feet HP:0001769 Hammertoes HP:0001765 Hammertoe HP:0001765 Hammer toe HP:0001765 Pes planus HP:0001763 Flat feet HP:0001763 Fallen arches HP:0001763 Dropped arches HP:0001763 Talipes equinovarus HP:0001762 Pes equinus HP:0001762 Pes equinovarus HP:0001762 Foot, talipes equinovarus HP:0001762 Equinovarus HP:0001762 Clubfoot HP:0001762 Clubfeet HP:0001762 Club foot HP:0001762 Club feet HP:0001762 Pes cavus HP:0001761 Foot deformity HP:0001760 Foot deformities HP:0001760 Abnormality of the foot HP:0001760 Abnormality of the feet HP:0001760 Abnormal feet morphology HP:0001760 High-tone sensorineural hearing impairment HP:0001757 High-tone sensorineural deafness HP:0001757 High-frequency sensorineural hearing impairment HP:0001757 High frequency sensorineural hearing impairment HP:0001757 Vestibular hypofunction HP:0001756 Vestibular function defect HP:0001751 Vestibular dysfunction HP:0001751 Interictal vestibular dysfunction HP:0001751 Impaired vestibular function HP:0001751 Single ventricle HP:0001750 Polysplenia HP:0001748 Multiple accessory spleens HP:0001748 Accessory spleens HP:0001748 Accessory spleen HP:0001747 Asplenia HP:0001746 Splenomegaly HP:0001744 Abnormality of the spleen HP:0001743 Nasal obstruction HP:0001742 Phimosis HP:0001741 Abnormality of the nasopharynx HP:0001739 Pancreatic insufficiency HP:0001738 Exocrine pancreatic insufficiency HP:0001738 Pancreatic cysts HP:0001737 Pancreatic cyst HP:0001737 Multiple pancreatic cysts HP:0001737 Pancreatitis, acute HP:0001735 Acute pancreatitis HP:0001735 Annular pancreas HP:0001734 Pancreatitis HP:0001733 Pancreatic disease HP:0001732 Abnormality of the pancreas HP:0001732 Progressive hearing loss HP:0001730 Progressive hearing impairment HP:0001730 Thromboembolic stroke HP:0001727 Increased prevalence of valvular disease HP:0001726 Aortic dilatation HP:0001724 Restrictive cardiomyopathy HP:0001723 High-output congestive heart failure HP:0001722 Double-outlet right ventricle HP:0001719 Double outlet right ventricle HP:0001719 Mitral valve stenosis HP:0001718 Mitral stenosis HP:0001718 Coronary artery calcification HP:0001717 Wolff-Parkinson-White syndrome HP:0001716 Ventricular hypertrophy HP:0001714 Abnormality of cardiac ventricle HP:0001713 Left ventricular wall hypertrophy HP:0001712 Left ventricular hypertrophy HP:0001712 Left ventricular abnormality HP:0001711 Abnormality of the left ventricle HP:0001711 Conotruncal heart defects HP:0001710 Conotruncal defect HP:0001710 Third-degree heart block HP:0001709 Third degree atrioventricular block HP:0001709 Complete heart block HP:0001709 Right ventricular failure HP:0001708 Right ventricular abnormality HP:0001707 Abnormality of the right ventricle HP:0001707 Endocardial fibroelastosis HP:0001706 Right ventricular outlet obstruction HP:0001705 Tricuspid valve prolapse HP:0001704 Abnormality of the tricuspid valve HP:0001702 Pericarditis HP:0001701 Myocardial necrosis HP:0001700 Sudden death HP:0001699 Pericardial effusions HP:0001698 Pericardial effusion HP:0001698 Abnormality of the pericardium HP:0001697 situs transversus HP:0001696 situs oppositus HP:0001696 Situs inversus totalis HP:0001696 Situs inversus HP:0001696 Cardiac arrest HP:0001695 Right-to-left shunt HP:0001694 Cardiac shunt HP:0001693 Primary atrial arrhythmia HP:0001692 Atrial arrhythmia HP:0001692 Muscular subvalvular aortic stenosis HP:0001691 Muscular subaortic stenosis HP:0001691 Sinus bradycardia HP:0001688 Loss of voice HP:0001686 Myocardial fibrosis HP:0001685 Secundum atrial septal defect HP:0001684 Patent ostium secundum HP:0001684 Ostium secundum atrial septal defect HP:0001684 Atrial septal defect, ostium secundum type HP:0001684 Ectopia cordis HP:0001683 Subvalvular aortic stenosis HP:0001682 Subaortic stenosis HP:0001682 Angina pectoris HP:0001681 Coarctation of the aorta HP:0001680 Coarctation of aorta HP:0001680 Coaractation of the aorta HP:0001680 Aortic coarctation HP:0001680 Abnormality of the aorta HP:0001679 Atrioventricular nodal disease HP:0001678 Atrioventricular block HP:0001678 Coronary disease HP:0001677 Coronary artery disease HP:0001677 Palpitations (with pheochromocytoma) HP:0001676 Rhythm disturbances associated with pheochromocytoma HP:0001675 Complete common AV canal HP:0001674 Complete atrioventricular septal defect HP:0001674 Complete atrioventricular canal defect HP:0001674 Common atrioventricular canal HP:0001674 Atrioventricular canal HP:0001674 Tachycardia (with pheochromocytoma) HP:0001673 Septal defects HP:0001671 Heart septal defect HP:0001671 Abnormality of the cardiac septa HP:0001671 Asymmetric septal hypertrophy HP:0001670 Transposition of the great arteries HP:0001669 Transposition of great vessels HP:0001669 Right ventricular hypertrophy HP:0001667 Torsades de pointes HP:0001664 Torsade de pointes HP:0001664 Ventricular fibrillation HP:0001663 Bradycardia HP:0001662 Truncus arteriosus HP:0001660 Persistant truncus arteriosus HP:0001660 Common arterial trunk HP:0001660 Aortic valve regurgitation HP:0001659 Aortic regurgitation HP:0001659 Aortic insufficiency HP:0001659 Myocardial infarction HP:0001658 Prolonged QT interval HP:0001657 Prolong qt interval on ekg HP:0001657 Long QT syndrome HP:0001657 Long Q-T syndrome HP:0001657 Leukemia HP:0001909 Hypoplastic anemia HP:0001908 Thromboembolism HP:0001907 Thromboembolic events HP:0001907 Patent foramen ovale HP:0001655 Valvular heart disease HP:0001654 Valvular abnormality HP:0001654 Abnormality of the heart valves HP:0001654 Mitral valve regurgitation HP:0001653 Mitral valve insufficiency HP:0001653 Mitral regurgitation, mild HP:0001653 Mitral regurgitation HP:0001653 Mitral insufficiency HP:0001653 Mitral incompetence HP:0001653 Thoracic situs inversus HP:0001651 Dextrocardia HP:0001651 Valvular aortic stenosis HP:0001650 Aortic valve stenosis HP:0001650 Aortic stenosis HP:0001650 Tachycardia HP:0001649 Rapid heart beat HP:0001649 Increased heart rate HP:0001649 Elevated heart rate HP:0001649 Cor pulmonale HP:0001648 Bicuspid aortic valve HP:0001647 Abnormality of the aortic valve HP:0001646 Sudden cardiac death HP:0001645 Premature sudden cardiac death HP:0001645 Dilated cardiomyopathy HP:0001644 Congestive cardiomyopathy HP:0001644 Cardiovascular abnormality HP:0001626 Abnormality of the cardiovascular system HP:0001626 Breech presentation at birth HP:0001623 Breech presentation HP:0001623 Shortened gestation time HP:0001622 Preterm delivery HP:0001622 Premature delivery of affected infants HP:0001622 Premature delivery HP:0001622 Premature birth HP:0001622 Weak voice HP:0001621 Soft voice HP:0001621 Hypophonia HP:0001621 High-pitched voice HP:0001620 High pitched voice HP:0001620 Dysphonia HP:0001618 Hoarse cry HP:0001615 Hoarse voice (caused by tumor impingement) HP:0001613 Weak cry HP:0001612 Nasal voice HP:0001611 Nasal speech HP:0001611 Hypernasal voice HP:0001611 Hypernasal speech HP:0001611 Husky voice HP:0001609 Hoarseness HP:0001609 Hoarse voice HP:0001609 Voice abnormality HP:0001608 Abnormality of the voice HP:0001608 Subglottic stenosis HP:0001607 Vocal cord paralysis (caused by tumor impingement) HP:0001606 Vocal cord paralysis HP:0001605 Weakness of the vocal cords HP:0001604 Vocal cord paresis in severe cases HP:0001604 Vocal cord paresis HP:0001604 Hoarse voice due to vocal cord paresis HP:0001604 Laryngeal stenosis HP:0001602 Laryngomalacia HP:0001601 Laryngeal anomalies HP:0001600 Laryngeal abnormalities HP:0001600 Abnormality of the larynx HP:0001600 Spoon-shaped nails HP:0001598 Koilonychia HP:0001598 Concave nail HP:0001598 Nail disease HP:0001597 Abnormality of the nail HP:0001597 Hair loss HP:0001596 Alopecia HP:0001596 abnormality of the hair shaft HP:0001595 Hair abnormality HP:0001595 Abnormality of the hair HP:0001595 Maxillary lateral incisor microdontia HP:0001593 Selective tooth agenesis HP:0001592 Narrow, bell-shaped thorax HP:0001591 Constricted, bell-shaped thorax HP:0001591 Bell-shaped thorax HP:0001591 Bell-shaped chest HP:0001591 Primary ovarian insufficiency HP:0001587 Primary ovarian failure HP:0001587 Vesicovaginal fistula HP:0001586 Rotatory Nystagmus HP:0001583 Rotary nystagmus HP:0001583 Sagging, redundant skin HP:0001582 Redundant skin folds HP:0001582 Redundant skin HP:0001582 Loose redundant skin HP:0001582 Skin infections, recurrent HP:0001581 Skin infections HP:0001581 Recurrent skin infections HP:0001581 Cutaneous infections HP:0001581 Pigmented micronodular adrenocortical disease HP:0001580 Primary hypercorticolism HP:0001579 ACTH-independent hypercortisolemia HP:0001579 Increased cortisol production HP:0001578 Hypercortisolism HP:0001578 Cushing syndrome HP:0001578 Mood changes HP:0001575 Mood alterations HP:0001575 Abnormality of the integument HP:0001574 Macrodontia HP:0001572 Large teeth HP:0001572 Multiple impacted teeth HP:0001571 Impacted teeth HP:0001571 Widely-spaced maxillary central incisors HP:0001566 Widely spaced upper incisors HP:0001566 Wide upper central incisors HP:0001566 Wide gap between upper central incisors HP:0001566 Separated superior central incisors HP:0001566 Diastasis of the central incisors HP:0001566 Central incisor gap HP:0001566 Fetal polyuria HP:0001563 Oligohydramnios HP:0001562 Maternal oligohydramnios HP:0001562 Polyhydramnios HP:0001561 Hydramnios HP:0001561 abnormal amniotic fluid HP:0001560 Abnormality of the amniotic fluid HP:0001560 Reduced fetal movements HP:0001558 Reduced fetal movement HP:0001558 Fetal hypokinesia HP:0001558 Decreased movement in utero HP:0001558 Decreased fetal movements HP:0001558 Decreased fetal movement HP:0001558 Decreased fetal activity HP:0001558 Prenatal movement abnormality HP:0001557 Abnormal intrauterine movements HP:0001557 Asymmetry of the thorax HP:0001555 Asymmetric chest HP:0001555 Barrel-shaped chest HP:0001552 Barrel chest HP:0001552 Abnormality of the umbilicus HP:0001551 Abnormal umbilicus HP:0001551 Abnormality of the ileum HP:0001549 Overgrowth HP:0001548 Generalized overgrowth HP:0001548 Fetal overgrowth HP:0001548 Abnormality of the rib cage HP:0001547 Anus anteposition HP:0001545 Anteriorly placed anus HP:0001545 Anteriorly displaced anus HP:0001545 Prominent umbilicus HP:0001544 Gastroschisis HP:0001543 Ascites HP:0001541 Diastasis recti HP:0001540 Omphalocoele HP:0001539 Omphalocele HP:0001539 Protuberant abdomen HP:0001538 Abdominal protuberance HP:0001538 Umbilical hernias HP:0001537 Umbilical hernia HP:0001537 Slender build HP:0001533 Asthenic habitus HP:0001533 Failure to thrive in infancy HP:0001531 Failure to thrive in first year of life HP:0001531 Postnatal onset of mild growth retardation HP:0001530 Mild postnatal growth retardation HP:0001530 Mild growth deficiency HP:0001530 Hemihypertrophy HP:0001528 Asymmetric limb hypertrophy HP:0001528 Severe postnatal failure to thrive HP:0001525 Severe failure to thrive HP:0001525 Marked failure to thrive HP:0001525 Lethal in infancy HP:0001522 Infantile death HP:0001522 Death in infancy HP:0001522 Death in early childhood HP:0001522 Macrosomia, neonatal HP:0001520 Macrosomia HP:0001520 Large for gestational age HP:0001520 Fetal macrosomia HP:0001520 Birthweight > 90th percentile HP:0001520 Birth weight > 90th percentile HP:0001520 Reduced upper-lower segment ratio HP:0001519 Marfanoid habitus HP:0001519 Marfanoid body habitus HP:0001519 Dolichostenomelia HP:0001519 Disproportionate tall stature HP:0001519 Small for gestational age HP:0001518 Low birth weight HP:0001518 Birth weight less than 10th percentile HP:0001518 Obesity HP:0001513 Small for gestational age infant HP:0001511 Prenatal-onset growth retardation HP:0001511 Prenatal onset growth retardation HP:0001511 Prenatal growth retardation HP:0001511 Prenatal growth failure HP:0001511 Prenatal growth deficiency HP:0001511 Intrauterine retardation HP:0001511 Intrauterine growth retardation, IUGR HP:0001511 Intrauterine growth retardation (IUGR) HP:0001511 Intrauterine growth retardation HP:0001511 Intrauterine growth restriction HP:0001511 Intrauterine growth failure HP:0001511 In utero growth retardation HP:0001511 Very poor growth HP:0001510 Retarded growth HP:0001510 Poor growth HP:0001510 Growth retardation HP:0001510 Growth failure HP:0001510 Growth delay HP:0001510 Growth deficiency HP:0001510 Delayed growth HP:0001510 Postnatal failure to thrive HP:0001508 Poor weight gain HP:0001508 Failure to thrive HP:0001508 Growth abnormality HP:0001507 Abnormal growth HP:0001507 Metacarpals osteolysis HP:0001504 Metacarpal osteolysis HP:0001504 6 metacarpals HP:0001501 Wide fingers HP:0001500 Broad fingers HP:0001500 Hypoplastic nails HP:0001792 Broad finger HP:0001500 Small carpals HP:0001498 Small carpal bones HP:0001498 Hypoplastic carpal bones HP:0001498 Hypoplasia of carpal bones HP:0001498 Carpal bone hypoplasia HP:0001498 Carpal osteolysis HP:0001495 Carpal bone osteolysis HP:0001495 Falciform retinal fold HP:0001493 Congenital retinal fold HP:0001493 Axenfeld anomaly HP:0001492 Congenital ophthalmoplegia HP:0001491 Congenital fibrosis of the extraocular muscles HP:0001491 Congenital fibrosis of extraocular muscles (CFEOM) HP:0001491 Congenital fibrosis of extraocular muscles HP:0001491 Vitreous detachment HP:0001489 Posterior vitreous detachment HP:0001489 Bilateral ptosis HP:0001488 obsolete Hypopigmented fundi HP:0001487 Hypopigmented ocular fundus HP:0001487 Eye poking HP:0001483 Subcutaneous nodules HP:0001482 Subcutaneous nodule HP:0001482 Multiple, subcutaneous nodules HP:0001482 Freckling HP:0001480 Compensatory head tilt/chin elevation HP:0001477 Osteolysis involving metatarsal bones HP:0001473 Metatarsal osteolysis HP:0001473 Familial predisposition HP:0001472 Aplasia/Hypoplasia of the musculature of the pelvis HP:0001471 Sex-limited autosomal dominant HP:0001470 Abnormality of the musculature of the pelvis HP:0001469 Aplasia/Hypoplasia involving the musculature of the upper arm HP:0001468 Aplasia/Hypoplasia involving the musculature of the upper limbs HP:0001467 Contiguous gene syndrome HP:0001466 Amyotrophy involving the shoulder musculature HP:0001465 Aplasia/Hypoplasia involving the shoulder musculature HP:0001464 Aplasia/Hypoplasia involving the skeletal musculature HP:0001460 1-3 toe syndactyly HP:0001459 Abnormality of the musculature of the upper arm HP:0001457 Abnormality of the upper arm HP:0001454 Autosomal dominant contiguous gene syndrome HP:0001452 Y-linked inheritance HP:0001450 Duplication of metatarsal bones HP:0001449 Abnormality of the musculature of the upper limbs HP:0001446 Abnormality of the hip-girdle musculature HP:0001445 Autosomal dominant somatic cell mutation HP:0001444 Abnormality of the gluteal musculature HP:0001443 Somatic mosaicism HP:0001442 Abnormality of the musculature of the thigh HP:0001441 Synostosis involving metatarsal bones HP:0001440 Metatarsal synostosis HP:0001440 Fusion of metatarsals HP:0001440 Abnormality of the abdomen HP:0001438 Abdomen abnormality HP:0001438 Abnormality of the musculature of the lower limbs HP:0001437 Abnormality of the foot musculature HP:0001436 Abnormality of the shoulder girdle musculature HP:0001435 Abnormality of shoulder musculature HP:0001435 Hepatosplenomegaly HP:0001433 Abnormality of the calf musculature HP:0001430 Abnormality of calf musculature HP:0001430 Somatic mutation HP:0001428 Mitochondrial inheritance HP:0001427 Mitochondrial HP:0001427 Multifactorial inheritance HP:0001426 Heterogeneous. HP:0001425 Heterogeneous HP:0001425 Heterogeneity. HP:0001425 Heterogeneity HP:0001425 Genetic heterogeneity HP:0001425 X-linked dominant inheritance HP:0001423 X-linked dominant HP:0001423 Abnormality of the musculature of the hand HP:0001421 X-linked recessive inheritance HP:0001419 X-linked recessive HP:0001419 X-linked inheritance HP:0001417 X-linked form HP:0001417 X-linked HP:0001417 Microvesicular steatosis HP:0001414 Microvesicular hepatic steatosis HP:0001414 Micronodular cirrhosis HP:0001413 Enteroviral hepatitis HP:0001412 Liver dysfunction, mild HP:0001410 Liver dysfunction HP:0001410 Decreased liver function HP:0001410 Portal hypertension HP:0001409 Proliferation of bile canaliculi HP:0001408 Bile duct proliferation HP:0001408 Hepatic cysts HP:0001407 Intrahepatic cholestasis HP:0001406 Periportal fibrosis HP:0001405 Hepatocellular necrosis HP:0001404 Hepatocellular loss HP:0001404 Macrovesicular steatosis HP:0001403 Macrovesicular hepatic steatosis HP:0001403 Increased incidence of hepatocellular carcinoma HP:0001402 Increased hepatocellular carcinoma risk HP:0001402 Hepatocellular carcinoma HP:0001402 Intrahepatic biliary dysgenesis HP:0001401 Hepatic abscesses due to immunodeficiency HP:0001400 Liver failure HP:0001399 Hepatic failure HP:0001399 Steatosis HP:0001397 Liver steatosis HP:0001397 Hepatic steatosis HP:0001397 Fatty liver HP:0001397 Fatty infiltration of liver HP:0001397 Cholestasis HP:0001396 Hepatic fibrosis HP:0001395 Liver cirrhosis HP:0001394 Hepatic cirrhosis HP:0001394 Cirrhosis HP:0001394 Liver disease HP:0001392 Liver abnormality HP:0001392 Abnormality of the liver HP:0001392 Loosejointedness HP:0001388 Loose-jointedness HP:0001388 Lax joints HP:0001388 Joint laxity HP:0001388 Stiff joints HP:0001387 Stiff joint HP:0001387 Mild joint stiffness HP:0001387 Joint stiffness (hands, shoulder, elbows, knees, and ankles) HP:0001387 Joint stiffness HP:0001387 Joint swelling HP:0001386 Hip dysplasia HP:0001385 Congenital hip dysplasia HP:0001385 Abnormality of the hip joints HP:0001384 Abnormality of the hip joint HP:0001384 Joint hypermobility HP:0001382 Joint hyperextensibility HP:0001382 Increased mobility of joints HP:0001382 Hyperextensible joints HP:0001382 Extensible joints HP:0001382 Ligamentous laxity HP:0001380 Joint ligamentous laxity HP:0001380 Degenerative joint disease HP:0001379 Restricted elbow extension HP:0001377 Limited forearm extension HP:0001377 Limited extension at elbows HP:0001377 Limited elbow extension HP:0001377 Limitation of elbow extension HP:0001377 Elbow limited extension HP:0001377 Decreased elbow extension HP:0001377 Limited joint motion HP:0001376 Limited joint mobility HP:0001376 Limitation of joint mobility HP:0001376 Decreased mobility of joints HP:0001376 Decreased joint mobility HP:0001376 Congenital hip dislocations HP:0001374 Congenital hip dislocation HP:0001374 Congenital hip anomaly HP:0001374 Congenital dislocation of the hips HP:0001374 Congenital dislocation of the hip HP:0001374 Recurrent joint dislocations HP:0001373 Joint dislocations HP:0001373 Joint dislocation HP:0001373 Dislocations HP:0001373 Joint contractures HP:0001371 Joint contracture HP:0001371 Flexion contractures of joints HP:0001371 Flexion contractures HP:0001371 Flexion contracture HP:0001371 Contractures HP:0001371 Contracture HP:0001371 Rheumatoid arthritis HP:0001370 Arthritis HP:0001369 Joint disease HP:0001367 Anomaly of the joints HP:0001367 Abnormality of the joints HP:0001367 Abnormal joint morphology HP:0001367 cranial suture synostosis HP:0001363 Premature fontanel closure HP:0001363 Premature closure of cranial sutures HP:0001363 Early fusion of cranial sutures HP:0001363 Craniosyostosis HP:0001363 Craniosynostosis HP:0001363 Craniostenosis HP:0001363 Skull defect HP:0001362 Nystagmus-induced head nodding HP:0001361 Single brain ventricle HP:0001360 Holoprosencephaly HP:0001360 rhomboid shaped skull HP:0001357 rhomboid shaped head HP:0001357 rhomboid shaped cranium HP:0001357 positional plagiocephaly HP:0001357 deformational plagiocephaly HP:0001357 asymmetry of the posterior skull HP:0001357 asymmetry of the posterior head HP:0001357 asymmetry of the posterior cranium HP:0001357 Plagiocephaly HP:0001357 Megalencephaly HP:0001355 Macrencephaly HP:0001355 Jerk-locked premyoclonus spikes HP:0001351 Slurred speech HP:0001350 Facial paresis, bilateral HP:0001349 Facial diplegia HP:0001349 Bilateral facial weakness HP:0001349 Brisk reflexes HP:0001348 Increased reflexes HP:0001347 Increased deep tendon reflexes HP:0001347 Hyperreflexia HP:0001347 Psychotic mentation HP:0001345 No speech or language development HP:0001344 No speech development HP:0001344 Lack of speech HP:0001344 Lack of language development HP:0001344 Absent speech development HP:0001344 Absent speech HP:0001344 Kernicterus HP:0001343 Intracerebral hemorrhage HP:0001342 Cerebral hemorrhage HP:0001342 Olfactory lobe agenesis HP:0001341 Olfactory lobe absence HP:0001341 Enhancement of the C-reflex HP:0001340 Cardiomyopathy, dilated HP:0001644 Persistent ductus arteriosus HP:0001643 Persistent arterial duct HP:0001643 Patent ductus arteriosus HP:0001643 Ductus arteriosus HP:0001643 Pulmonic valve stenosis HP:0001642 Pulmonic stenosis HP:0001642 Pulmonary valve stenosis HP:0001642 Pulmonary stenosis HP:0001642 Anomaly of the pulmonary valve HP:0001641 Abnormality of the pulmonary valve HP:0001641 Cardiomegaly HP:0001640 Hypertrophic cardiomyopathy HP:0001639 Cardiomyopathy, hypertrophic HP:0001639 Cardiomyopathy HP:0001638 Abnormality of the myocardium HP:0001637 Tetrology of fallot HP:0001636 Tetralogy of Fallot HP:0001636 Heart failure HP:0001635 Congestive heart failure HP:0001635 Chronic heart failure HP:0001635 Cardiac insufficiency HP:0001635 Cardiac failures HP:0001635 Cardiac failure HP:0001635 Mitral valve prolapse HP:0001634 Abnormality of the mitral valve HP:0001633 Defect in the atrial septum HP:0001631 Atrial septal defect (ASD) HP:0001631 Atrial septal defect HP:0001631 Atria septal defect HP:0001631 Ventriculoseptal defect HP:0001629 Ventricular septal defects HP:0001629 Ventricular septal defect HP:0001629 Congenital heart defects HP:0001627 Congenital heart defect HP:0001627 Cardiac anomalies HP:0001627 Cardiac abnormality HP:0001627 Abnormality of the heart HP:0001627 Abnormality of cardiac morphology HP:0001627 Abnormal heart morphology HP:0001627 Cardiovascular disease HP:0001626 Lissencephaly HP:0001339 Agyria HP:0001339 Partial-total agenesis of corpus callosum HP:0001338 Partial to complete agenesis of corpus callosum HP:0001338 Partial or complete agenesis of the corpus callosum HP:0001338 Partial or complete agenesis of corpus callosum HP:0001338 Partial corpus callosum agenesis HP:0001338 Partial agenesis of the corpus callosum HP:0001338 Partial agenesis of corpus callosum HP:0001338 Corpus callosum agenesis, partial HP:0001338 Tremor HP:0001337 Myoclonus HP:0001336 Myoclonic jerks HP:0001336 Mirror movements HP:0001335 Mirror hand movements HP:0001335 Hand mirror movements HP:0001335 Bimanual synkinesia HP:0001335 Communicating hydrocephalus HP:0001334 Dystonic movements HP:0001332 Dystonic disease HP:0001332 Dystonia HP:0001332 Agenesis of the septum pellucidum HP:0001331 Absent septum pellucidum HP:0001331 Absence of the septum pellucidum HP:0001331 Absence of septum pellucidum HP:0001331 Specific learning disability HP:0001328 Mild and nonprogressive mental retardation HP:0001256 Mental retardation, mild HP:0001256 Mental retardation, borderline-mild HP:0001256 Intellectual disability, mild HP:0001256 Lethargy HP:0001254 Muscular hypotonia HP:0001252 Muscle hypotonia HP:0001252 Hypotonia HP:0001252 Cerebellar ataxia HP:0001251 Ataxia HP:0001251 Seizures HP:0001250 Seizure HP:0001250 Epilepsy HP:0001250 Poor school performance HP:0001249 Nonprogressive mental retardation HP:0001249 Nonprogressive intellectual disability HP:0001249 Mental-retardation HP:0001249 Mental retardation, nonspecific HP:0001249 Mental retardation HP:0001249 Mental deficiency HP:0001249 Low intelligence HP:0001249 Intellectual disability HP:0001249 Dull intelligence HP:0001249 Short tubular bones (hand) HP:0001248 Thenar muscle hypoplasia HP:0001245 Thenar hypoplasia HP:0001245 Small thenar eminence HP:0001245 Hypoplastic thenar eminences HP:0001245 Fusion of hamate and capitate HP:0001241 Fusion of capitate and hamate HP:0001241 Fused capitate and hamate HP:0001241 Capitate-hamate fusions HP:0001241 Capitate-hamate fusion HP:0001241 Wrist flexion deformity HP:0001239 Wrist flexion contracture HP:0001239 Wrist contracture HP:0001239 thin fingers HP:0001238 Slender fingers HP:0001238 Slender finger HP:0001238 Narrow fingers HP:0001238 Hitchhiker thumb HP:0001234 Abducted thumb HP:0001234 Syndactyly, 2-3 finger HP:0001233 Syndactyly 2nd-3rd fingers HP:0001233 2-3 finger syndactyly HP:0001233 Nail bed telangiectasia HP:0001232 Nail bed telangiectases HP:0001232 Abnormality of the fingernails HP:0001231 Abnormal fingernails HP:0001231 Wide metacarpals HP:0001230 Broad metacarpals HP:0001230 Thenar abnormality HP:0001227 Abnormality of the thenar eminence HP:0001227 Acral ulceration and osteomyelitis leading to autoamputation of digits HP:0001226 Acral ulceration and osteomyelitis leading to autoamputation HP:0001226 Wrist swelling HP:0001225 Pointed proximal second through fifth metacarpals HP:0001223 Spatulate thumbs HP:0001222 Interphalangeal joint flexion contractures HP:0001220 Interphalangeal joint contracture of finger HP:0001220 Autoamputation HP:0001218 Digital clubbing HP:0001217 Clubbing of fingers and toes HP:0001217 Clubbing HP:0001217 Delayed ossification of carpal bones HP:0001216 Delayed maturation of carpal bones HP:0001216 Delayed carpal ossification HP:0001216 Delayed carpal bone age HP:0001216 Carpal delayed ossification HP:0001216 Camptodactyly of 2nd-5th fingers HP:0001215 Prominent fingertip pads HP:0001212 Prominent finger pads HP:0001212 Persistent fetal fingertip pads HP:0001212 Persistence of fingerpads HP:0001212 Abnormality of the fingertips HP:0001211 Terminal symphalangism HP:0001204 Synostosis of distal phalanges HP:0001204 Symphalangism, distal HP:0001204 Symphalangism affecting the distal phalanges of the hand HP:0001204 Distal symphalangism (hands) HP:0001204 Triphalangy of thumb HP:0001199 Triphalangeal thumbs HP:0001199 Triphalangeal thumb HP:0001199 Finger-like thumb HP:0001199 Digitalized thumb HP:0001199 Accessory phalanx of the thumb HP:0001199 Abnormality of prenatal development or birth HP:0001197 Short umbilical cord HP:0001196 Single umbilical artery HP:0001195 Abnormalities of placenta or umbilical cord HP:0001194 Ulnar deviation of the hand or of fingers of the hand HP:0001193 Carpal bone anomalies HP:0001191 Anomalous carpal bones HP:0001191 Abnormality of the carpal bones HP:0001191 Abnormal carpal bones HP:0001191 Hand clenching HP:0001188 Clenched hands HP:0001188 Hyperextensible fingers HP:0001187 Hyperextensible finger HP:0001187 Hyperextensible digits HP:0001187 Hyperextensibility of the finger joints HP:0001187 Finger joint hyperextensibility HP:0001187 Tapering fingers HP:0001182 Tapered fingertips HP:0001182 Tapered fingers HP:0001182 Tapered finger HP:0001182 Distally tapering fingers HP:0001182 Adducted thumbs HP:0001181 Adducted thumb HP:0001181 Oligodactyly (hands) HP:0001180 Ulnar claw HP:0001178 thumb polydactyly HP:0001177 Preaxial polydactyly (hands) HP:0001177 Preaxial hand polydactyly HP:0001177 Polydactyly affecting the thumb HP:0001177 large hand HP:0001176 Large hands HP:0001176 Disproportionately large hands HP:0001176 Thumb deformity HP:0001172 Abnormality of the thumbs HP:0001172 Abnormality of the thumb HP:0001172 Split-hand HP:0001171 Split hand HP:0001171 Ectrodactyly of the hand HP:0001171 Ectrodactyly (hands) HP:0001171 Claw-hand deformities HP:0001171 Claw hands HP:0001171 Claw hand deformities HP:0001171 Claw hand HP:0001171 Wide palm HP:0001169 Broad palm HP:0001169 Broad hands HP:0001169 Broad hand HP:0001169 Abnormality of finger HP:0001167 Abnormalities of the fingers HP:0001167 Long, slender fingers HP:0001166 Long slender fingers HP:0001166 Arachnodactyly HP:0001166 Anomaly of the metacarpal bones HP:0001163 Abnormality of the metacarpal bones HP:0001163 Postaxial polydactyly of hands HP:0001162 Postaxial polydactyly of hand HP:0001162 Postaxial polydactyly of fingers HP:0001162 Postaxial polydactyly (hands) HP:0001162 Postaxial hand polydactyly HP:0001162 Polydactyly, postaxial HP:0001162 Polydactyly affecting the 5th finger HP:0001162 Polydactyly of the hand HP:0001161 Polydactyly (hands) HP:0001161 Hand polydactyly HP:0001161 Syndactyly HP:0001159 Brachydactyly syndrome HP:0001156 Brachydactyly HP:0001156 Hand deformities HP:0001155 Hand anomalies HP:0001155 Abnormality of the hand HP:0001155 Abnormal hands HP:0001155 Septate vagina HP:0001153 Saccadic smooth pursuit HP:0001152 Saccadic slow pursuit HP:0001152 Saccadic pursuit movements HP:0001152 Impaired horizontal visual pursuit HP:0001151 Impaired horizontal smooth pursuit HP:0001151 obsolete Choroidal sclerosis HP:0001150 Choroidal vessel sclerosis HP:0001150 Lattice corneal dystrophy HP:0001149 Retinal exudate HP:0001147 Retinal pigmentary degeneration HP:0001146 Retinal exudates HP:0001146 Pigmentary retinal degeneration HP:0001146 obsolete Chorioretinopathy HP:0001145 Orbital cysts HP:0001144 Orbital cyst HP:0001144 Lenticonus HP:0001142 Severely impaired vision HP:0001141 Severe visual impairment HP:0001141 Marked vision impairment HP:0001141 Epibulbar dermoids HP:0001140 Epibulbar dermoid HP:0001140 Choroideremia HP:0001139 Optic neuropathy HP:0001138 Alternating esotropia HP:0001137 Tortuous retinal arterioles HP:0001136 Retinal arteriolar tortuosity HP:0001136 Chorioretinal dystrophy HP:0001135 Anterior polar cataract HP:0001134 Visual field constriction HP:0001133 Reduced visual fields HP:0001133 Depressed visual field HP:0001133 Constriction of peripheral visual field HP:0001133 Compensatory chin elevation HP:0001477 late closure of the bregma sutures HP:0001476 late closure of soft spot on the skull HP:0001476 late closure of anterior fontanelle HP:0001476 delayed closure of the soft spot on the skull HP:0001476 delayed closure of the bregma sutures HP:0001476 Persistent anterior fontanelle HP:0001476 Late closure of large anterior fontanel HP:0001476 Delayed closure of the anterior fontanelle HP:0001476 Delayed closure of anterior fontanelle HP:0001476 Delayed closure anterior fontanel HP:0001476 Male-limited autosomal dominant HP:0001475 Sclerotic scapulae HP:0001474 Constricted visual fields HP:0001133 Constricted visual field HP:0001133 Concentric narrowing of visual field HP:0001133 Lens subluxation HP:0001132 Corneal dystrophy HP:0001131 Large central visual field defect HP:0001129 Trichiasis of eyelid eyelashes HP:0001128 Trichiasis HP:0001128 Cryptophthalmos HP:0001126 Transient unilateral blurring of vision HP:0001125 Transient unilateral blurred vision HP:0001125 Hemianoptic blurring of vision HP:0001125 Hemianopic blurring HP:0001125 Visual field defects HP:0001123 Visual field defect HP:0001123 obsolete Aplasia/Hypoplasia of the choroid HP:0001122 Abnormality of corneal size HP:0001120 Keratoglobus HP:0001119 Juvenile cataract HP:0001118 Sudden loss of visual acuity HP:0001117 Sudden central visual loss HP:0001117 Macular coloboma HP:0001116 Posterior polar cataract HP:0001115 Xanthelasma HP:0001114 obsolete Early cataracts HP:0001113 Leber optic atrophy features HP:0001112 Leber optic atrophy HP:0001112 Ocular albinism HP:0001107 Albinism, Ocular HP:0001107 Periorbital hyperpigmentation HP:0001106 Retinal atrophy HP:0001105 Macular hypoplasia HP:0001104 Macular abnormality HP:0001103 Macula abnormality HP:0001103 Abnormality of the macula HP:0001103 Laquer cracks of the retina HP:0001102 Angioid streaks, retina HP:0001102 Angioid streaks of the retina HP:0001102 Angioid streaks HP:0001102 Iritis HP:0001101 Heterochromia iridis HP:0001100 Heterochromia irides HP:0001100 Fundus atrophy HP:0001099 Abnormality of the fundus HP:0001098 Xerophthalmia HP:0001097 Keratoconjunctivitis sicca HP:0001097 Keratitis sicca HP:0001097 Dry eye syndrome HP:0001097 Keratoconjunctivitis HP:0001096 Hypertensive retinopathy HP:0001095 Iridocyclitis HP:0001094 Optic nerve dysplasia HP:0001093 Lacrimal punctum, absence HP:0001092 Lacrimal puncta aplasia HP:0001092 Aplasia of lacrimal puncta HP:0001092 Agenesis of the lacrimal punctum HP:0001092 Absent lacrimal punctum HP:0001092 Absent lacrimal puncta HP:0001092 Absent lacrimal openings HP:0001092 Absent lacrimal gland puncta HP:0001092 Large eyes HP:0001090 Iris atrophy HP:0001089 Iris brushfield spots HP:0001088 Brushfield spots HP:0001088 Congenital glaucoma HP:0001087 Papilledema HP:0001085 Gerontoxon HP:0001084 Corneal arcus HP:0001084 Corneal annulus HP:0001084 Arcus senilis HP:0001084 Arcus lipoidis HP:0001084 Arcus juvenilis HP:0001084 Anterior embryotoxon HP:0001084 Lens dislocation HP:0001083 Ectopia lentis HP:0001083 Dislocated lenses HP:0001083 Dislocated lens HP:0001083 Abnormality of lens position HP:0001083 Cholecystitis HP:0001082 Gallstones HP:0001081 Cholelithiasis HP:0001081 Biliary tract disease HP:0001080 Biliary tract abnormality HP:0001080 Glabellar hemangioma HP:0001076 Glabellar capillary hemangioma HP:0001076 Thin, atrophic scars HP:0001075 Atrophic scars HP:0001075 Atypical nevi in non-sun exposed areas HP:0001074 Cigarette-paper scars HP:0001073 Cigarette paper scarring HP:0001073 'cigarette paper scarring' HP:0001073 Thickened skin HP:0001072 Pachydermia HP:0001072 Diffusely thickened skin HP:0001072 Angiokeratoma corporis diffusum HP:0001071 Stippled pigmentation HP:0001070 Mottled pigmentation HP:0001070 Hyperhidrosis, episodic HP:0001069 Episodic hyperhidrosis HP:0001069 multiple neurofibromas HP:0001067 Neurofibromatosis HP:0001067 Neurofibromata HP:0001067 Neurofibromas HP:0001067 Striae distensae HP:0001065 Striae cutis distensae HP:0001065 Striae atrophicae HP:0001065 Striae HP:0001065 Stretch marks HP:0001065 Purplish striae HP:0001065 Acrocyanosis HP:0001063 Atypical nevi (>5mm with irregular edge and pigmentation) HP:0001062 Acne HP:0001061 Axillary pterygia HP:0001060 Pterygium HP:0001059 Pterygia HP:0001059 Poor wound healing HP:0001058 Aplasia cutis congenita HP:0001057 Milia HP:0001056 St. Anthony's Fire HP:0001055 Erysipelas HP:0001055 Numerous nevi HP:0001054 Multiple pigmented nevi HP:0001054 Hypopigmented skin patches HP:0001053 port-wine stain HP:0001052 Nevus flammeus HP:0001052 Seborrheic eczema HP:0001051 Seborrheic dermatitis HP:0001051 Seborrhea HP:0001051 Dysseborrheic dermatitis HP:0001051 Plethora HP:0001050 Absent dorsal skin creases over affected joints HP:0001049 Cavernous hemangioma HP:0001048 Cavernous haemangioma HP:0001048 Dermatitis, Atopic HP:0001047 Atopic dermatitis, chronic HP:0001047 Atopic dermatitis HP:0001047 Intermittent jaundice HP:0001046 Vitiligo HP:0001045 Prominent scalp veins HP:0001043 High axial triradius HP:0001042 Ruddy face HP:0001041 Facial erythema HP:0001041 Multiple pterygia HP:0001040 Atheroeruptive xanthoma HP:0001039 Warfarin-induced skin necrosis HP:0001038 Parakeratosis HP:0001036 Hyperpigmented spots HP:0001034 Hyperpigmented skin patches HP:0001034 Hyperpigmented macules HP:0001034 Hypermelanotic macule HP:0001034 Facial flushing after alcohol intake HP:0001033 Distal finger flexion creases absent HP:0001032 Aplasia of the distal interphalangeal creases HP:0001032 Absent distal interphalangeal creases HP:0001032 Absence of skin creases over distal interphalangeal joints HP:0001032 Subcutaneous lipoma HP:0001031 Skin fragility HP:0001030 Fragile skin HP:0001030 Poikiloderma HP:0001029 Hemangiomata HP:0001028 Hemangioma HP:0001028 Soft, doughy skin HP:0001027 Penetrating foot ulcers HP:0001026 Urticaria HP:0001025 Hives HP:0001025 Skin dimple over apex of long bone angulation HP:0001024 Albinism HP:0001022 Generalized erythrodermia HP:0001019 Generalized erythroderma HP:0001019 Erythroderma HP:0001019 Abnormal palmar dermatoglyphics HP:0001018 Anemic pallor HP:0001017 Prominent superficial veins HP:0001015 Angiokeratomas HP:0001014 Angiokeratoma HP:0001014 Eruptive xanthomas HP:0001013 Multiple lipomas HP:0001012 Lipomas HP:0001012 Diaphoresis (with pheochromocytoma) HP:0001011 Skin hypopigmentation HP:0001010 Hypopigmented skin HP:0001010 Hypopigmentation of the skin HP:0001010 Hypopigmentation HP:0001010 Telangiectasia HP:0001009 Telangiectases HP:0001009 Cutaneous telangiectasia HP:0001009 Accumulation of melanosomes in melanocytes HP:0001008 Hirsutism HP:0001007 Marked hypotrichosis HP:0001006 Hypotrichosis, infantile HP:0001006 Hypotrichosis HP:0001006 Congenital hypotrichosis HP:0001006 Dermatological manifestations of systemic disorders HP:0001005 Onset of lymphedema around puberty HP:0001004 Lymphoedema HP:0001004 Lymphedema HP:0001004 Multiple lentigines HP:0001003 Subcutaneous fat loss HP:0001002 Sparse subcutaneous fat HP:0001002 Little subcutaneous fat HP:0001002 Decreased subcutaneous fat HP:0001002 Abnormality of subcutaneous fat tissue HP:0001001 Pigmentation anomaly HP:0001000 Pigmentary skin changes HP:0001000 Pigmentary changes HP:0001000 Abnormality of skin pigmentation HP:0001000 Abnormality of pigmentation HP:0001000 Abnormal skin pigmentation HP:0001000 Abnormal pigmentation HP:0001000 Pyoderma HP:0000999 Hypertrichosis HP:0000998 Axillary freckling HP:0000997 Facial capillary hemangioma HP:0000996 Pigmented nevi HP:0000995 Pigmented naevi HP:0000995 Nevocellular nevi HP:0000995 Photomyoclonic seizures HP:0001327 EEG with irregular generalized spike and wave complexes HP:0001326 Loss of consciousness due to hypoglycemia HP:0001325 Hypoglycemic coma HP:0001325 Hypoglycaemic coma HP:0001325 Coma, hypoglycemic HP:0001325 Weakness HP:0001324 Muscular weakness HP:0001324 Muscle weakness HP:0001324 Brain very small HP:0001322 Hypoplastic cerebellum HP:0001321 Hypoplasia of cerebellum HP:0001321 Congenital cerebellar hypoplasia HP:0001321 Cerebellar hypoplasia HP:0001321 Hypoplastic cerebellar vermis HP:0001320 Hypoplasia of the cerebellar vermis HP:0001320 Cerebellar vermis hypoplasia HP:0001320 Cerebellar vermal hypoplasia HP:0001320 Neonatal hypotonia HP:0001319 Hypotonia, neonatal HP:0001319 Hypotonia, in neonatal onset HP:0001319 Cerebellar signs HP:0001317 Cerebellar anomaly HP:0001317 Cerebellar abnormality HP:0001317 Cerebellar abnormalities HP:0001317 Abnormality of the cerebellum HP:0001317 Weak or absent deep tendon reflexes HP:0001315 Reduced/absent deep tendon reflexes HP:0001315 Reduced tendon reflexes HP:0001315 Impaired tendon reflexes HP:0001315 Hypoactive to absent deep tendon reflexes HP:0001315 Diminished or absent tendon reflexes HP:0001315 Diminished or absent deep tendon reflexes HP:0001315 Decreased/absent deep tendon reflexes HP:0001315 Decreased to absent deep tendon reflexes HP:0001315 Absent or decreased deep tendon reflexes HP:0001315 Giant somatosensory evoked potentials (SEPS) HP:0001312 Giant somatosensory evoked potentials HP:0001312 Neurophysiologic abnormality HP:0001311 Neurophysiologic abnormalities HP:0001311 Abnormal nervous system electrophysiology HP:0001311 Dysmetria HP:0001310 Tongue fasciculations/fibrillations HP:0001308 Tongue fasciculations HP:0001308 Tongue fasciculation HP:0001308 Dandy-walker anomaly HP:0001305 Dandy-Walker malformation HP:0001305 Dandy-Walker cyst HP:0001305 Torsion dystonia HP:0001304 Dystonia musculorum deformans HP:0001304 Pachygyria HP:0001302 Cerebral pachygyria HP:0001302 Chronic sensorineural polyneuropathy HP:0001301 Parkinsonism HP:0001300 Parkinsonian disease HP:0001300 Encephalopathy HP:0001298 Stroke HP:0001297 Cerebrovascular accidents HP:0001297 Cerebrovascular accident HP:0001297 Cerebral vascular events HP:0001297 Cranial nerve compression HP:0001293 Cranial nerve involvement HP:0001291 Cranial nerve disease HP:0001291 Cranial nerve abnormality HP:0001291 Abnormality of the cranial nerves HP:0001291 Hypotonia, generalized HP:0001290 Generalized muscular hypotonia HP:0001290 Generalized hypotonia HP:0001290 Disorientation HP:0001289 Confusion HP:0001289 Impaired gait HP:0001288 Gait disturbances HP:0001288 Gait disturbance HP:0001288 Gait difficulties HP:0001288 Gait abnormalities HP:0001288 Abnormal gait HP:0001288 Meningitis HP:0001287 Spastic tetraparesis HP:0001285 Spastic quadriparesis HP:0001285 Loss of deep tendon reflexes HP:0001284 Deep tendon reflexes absent HP:0001284 Areflexia HP:0001284 Absent tendon reflexes HP:0001284 Absent deep tendon reflexes HP:0001284 Bulbar weakness HP:0001283 Bulbar palsy HP:0001283 Bulbar palsies HP:0001283 Bulbar muscle weakness HP:0001283 Tetany HP:0001281 Syncope HP:0001279 Postural hypotension HP:0001278 Orthostatic hypotension HP:0001278 Muscle hypertonia HP:0001276 Increased muscle tone HP:0001276 Hypertonicity HP:0001276 Hypertonia HP:0001276 Dysplastic or absent corpus callosum HP:0001274 Corpus callosum agenesis HP:0001274 Callosal agenesis HP:0001274 Agenesis of the corpus callosum HP:0001274 Agenesis of corpus callosum HP:0001274 Absent corpus callosum HP:0001274 Absence of corpus callosum HP:0001274 Corpus callosum abnormality HP:0001273 Abnormality of the corpus callosum HP:0001273 Abnormal corpus callosum HP:0001273 Infratentorial atrophy HP:0001272 Cerebellar atrophy HP:0001272 Polyneuropathy HP:0001271 Retarded motor development HP:0001270 No development of motor milestones HP:0001270 Motor retardation HP:0001270 Motor developmental milestones not achieved HP:0001270 Motor developmental delay HP:0001270 Motor delay HP:0001270 Locomotor delay HP:0001270 Delayed motor milestones HP:0001270 Delayed motor development HP:0001270 Delayed early motor milestones HP:0001270 Delay in motor development HP:0001270 Hemiparesis HP:0001269 Progressive cognitive decline HP:0001268 Mental deterioration HP:0001268 Intellectual deterioration HP:0001268 Cognitive decline, progressive HP:0001268 Cognitive decline HP:0001268 Choreoathetosis HP:0001266 Choreoathetoid movements HP:0001266 Hyporeflexia HP:0001265 Diminished deep tendon reflexes HP:0001265 Depressed tendon reflexes HP:0001265 Decreased tendon reflexes HP:0001265 Decreased deep tendon reflexes HP:0001265 Spastic diplegia HP:0001264 Retarded psychomotor development HP:0001263 Retarded mental development HP:0001263 Retarded development HP:0001263 Psychomotor retardation HP:0001263 Psychomotor developmental delay HP:0001263 Psychomotor development failure HP:0001263 Psychomotor development deficiency HP:0001263 Psychomotor delay HP:0001263 Motor and developmental delay HP:0001263 Mental and motor retardation HP:0001263 Lack of psychomotor development HP:0001263 Global developmental delay HP:0001263 Developmental retardation HP:0001263 Developmental delay, global HP:0001263 Developmental delay in early childhood HP:0001263 Developmental delay HP:0001263 Delayed psychomotor development HP:0001263 Delayed milestones HP:0001263 Delayed intellectual development HP:0001263 Delayed developmental milestones HP:0001263 Delayed development HP:0001263 Delayed cognitive development HP:0001263 Cognitive delay HP:0001263 Somnolence HP:0001262 Dysarthric speech HP:0001260 Dysarthria HP:0001260 Coma HP:0001259 Spastic paraplegia, lower limb HP:0001258 Spastic paraplegia HP:0001258 Spasticity HP:0001257 Muscular spasticity HP:0001257 Muscle spasticity HP:0001257 Mild mental retardation HP:0001256 Melanocytic nevus HP:0000995 Melanocytic nevi HP:0000995 Melanocytic naevus HP:0000995 Molluscoid pseudotumors HP:0000993 Molluscoid pseudotumor HP:0000993 Sun sensitivity HP:0000992 Skin photosensitivity HP:0000992 Sensitivity to sunlight HP:0000992 Photosensitivity HP:0000992 Photosensitive skin rashes HP:0000992 Photosensitive skin HP:0000992 Cutaneous photosensitivity HP:0000992 Xanthomatosis HP:0000991 Xanthomata HP:0000991 pruritis HP:0000989 Pruritus HP:0000989 Skin rash HP:0000988 Exanthem HP:0000988 Atypical scarring of skin HP:0000987 Atypical scarring HP:0000987 Palmoplantar keratoderma HP:0000982 Palmar and plantar keratoderma HP:0000982 Pallor HP:0000980 Paleness HP:0000980 Purpura HP:0000979 Ecchymoses HP:0000978 Wide-cupped costochondral junctions HP:0000910 Anteriorly splayed ribs HP:0000907 Anterior rib cupping HP:0000907 Anterior cupping of ribs HP:0000907 Progressive clavicular acroosteolysis HP:0000905 Progressive acroosteolysis of the clavicle HP:0000905 Flaring of rib cage HP:0000904 Anterior flaring of ribs HP:0000904 Rib fusion HP:0000902 Fused ribs HP:0000902 Thickened ribs HP:0000900 Rachitic rosary HP:0000897 Rib exostoses HP:0000896 Lateral clavicle hook HP:0000895 Hooked clavicle HP:0000895 Hook-shaped clavicle HP:0000895 Underdeveloped clavicles HP:0000894 Short clavicles HP:0000894 Hypoplastic clavicles HP:0000894 Clavicular hypoplasia HP:0000894 Bulging of the costochondral junction HP:0000893 Bifid ribs HP:0000892 Cervical ribs HP:0000891 Long clavicles HP:0000890 Elongated clavicles HP:0000890 Abnormality of the clavicle HP:0000889 Abnormal clavicles HP:0000889 Horizontal ribs HP:0000888 Rib flaring HP:0000887 Rib cupping HP:0000887 Cupped ribs HP:0000887 Deformed rib cage HP:0000886 Wide ribs HP:0000885 Broad ribs HP:0000885 Sternal protrusion HP:0000884 Prominent sternum HP:0000884 Thin ribs HP:0000883 Slender ribs HP:0000883 Small scapulae HP:0000882 Small scapula HP:0000882 Short scapulae HP:0000882 Scapular hypoplasia HP:0000882 Hypoplastic scapulae HP:0000882 Hypoplastic scapula HP:0000882 Short sternum HP:0000879 Hypoplastic sternum HP:0000879 11 pairs of ribs HP:0000878 Insulin-resistant diabetes mellitus at puberty HP:0000877 Oligomenorrhea HP:0000876 Episodic hypertension HP:0000875 Diabetes insipidus HP:0000873 Hashimoto's thyroiditis HP:0000872 Hashimoto thyroiditis HP:0000872 Chronic lymphocytic thyroiditis HP:0000872 Panhypopituitarism HP:0000871 Prolactin excess HP:0000870 Hyperprolactinemia HP:0000870 Hyperprolactinaemia HP:0000870 Secondary amenorrhea HP:0000869 Reduced fertility in females HP:0000868 Decreased fertility in females HP:0000868 Secondary hyperparathyroidism HP:0000867 Euthyroid multinodular goiter HP:0000866 Abnormality of the hypothalamus-pituitary axis HP:0000864 Neurohypophyseal diabetes insipidus HP:0000863 Central diabetes insipidus HP:0000863 Parathyroid hypoplasia HP:0000860 Mineralocorticoid excess HP:0000859 Increased aldosterone production HP:0000859 Increased aldosterone HP:0000859 Hyperaldosteronism HP:0000859 Elevated plasma aldosterone HP:0000859 Menstrual irregularity HP:0000858 Menstrual irregularities HP:0000858 Neonatal insulin-dependent diabetes mellitus HP:0000857 Insulin resistance HP:0000855 Thyroid adenoma HP:0000854 Goitre HP:0000853 Goiter HP:0000853 Pseudohypoparathyroidism HP:0000852 Hypothyroidism, congenital HP:0000851 Congenital hypothyroidism HP:0000851 Adrenocortical abnormality HP:0000849 Increased serum renin HP:0000848 Increased plasma renin HP:0000848 Increased circulating renin level HP:0000848 Hyperreninemia HP:0000848 Elevated plasma renin HP:0000848 Abnormality of the renin-aldosterone axis HP:0000847 Abnormality of renin-angiotensin system HP:0000847 Hypoadrenalism HP:0000846 Adrenal insufficiency HP:0000846 Growth hormone excess HP:0000845 Acromegaly HP:0000845 Acromegalic growth HP:0000845 Acral hypertrophy HP:0000845 Hyperparathyroidism HP:0000843 Hyperinsulinemia HP:0000842 Elevated insulin level HP:0000842 Increased plasma renin activity HP:0000841 Hyperactive renin-angiotensin system HP:0000841 Adrenogenital syndrome HP:0000840 Pituitary dwarfism HP:0000839 Increased circulating gonadotropin level HP:0000837 Gonadotropin excess HP:0000837 Elevated serum gonadotropins HP:0000837 Elevated gonadotropins HP:0000837 Hyperthyroidism HP:0000836 Small adrenal glands HP:0000835 Hypoplastic adrenal glands HP:0000835 Adrenal hypoplasia HP:0000835 Adrenal gland hypoplasia HP:0000835 Adrenal gland disease HP:0000834 Adrenal abnormalities HP:0000834 Abnormality of the adrenal glands HP:0000834 Impaired glucose tolerance HP:0000833 Glucose intolerance HP:0000833 Primary hypothyroidism HP:0000832 Insulin-resistant diabetes mellitus HP:0000831 Insulin-resistant diabetes HP:0000831 Insulin resistant diabetes mellitus HP:0000831 Insulin resistant diabetes HP:0000831 Anterior hypopituitarism HP:0000830 Low parathyroid hormone HP:0000829 Hypoparathyroidism HP:0000829 Parathyroid disease HP:0000828 Abnormality of the parathyroid gland HP:0000828 Precocious puberty HP:0000826 Hyperinsulinemic hypoglycemia HP:0000825 Hyperinsulinemia hypoglycemia HP:0000825 Hyperinsulinaemic hypoglycaemia HP:0000825 Growth hormone deficiency HP:0000824 Pubertal delay HP:0000823 Delayed puberty (male) HP:0000823 Delayed puberty (female) HP:0000823 Delayed puberty HP:0000823 Delayed pubertal growth HP:0000823 Delayed pubertal development HP:0000823 Delalyed puberty HP:0000823 Systemic hypertension HP:0000822 Increased blood pressure HP:0000822 Hypertension HP:0000822 Elevated blood pressure HP:0000822 Low T4 HP:0000821 Hypothyroidism HP:0000821 Thyroid disease HP:0000820 Thyroid abnormality HP:0000820 Abnormality of the thyroid gland HP:0000820 Diabetes mellitus HP:0000819 Endocrine system disease HP:0000818 Abnormality of the endocrine system HP:0000818 Poor eye contact HP:0000817 Abnormality of the tricarboxylic cycle HP:0000816 Abnormality of citric acid cycle HP:0000816 Abnormality of Krebs cycle metabolism HP:0000816 Primary hypogonadism HP:0000815 Hypergonadotropic hypogonadism HP:0000815 Hypergonadotrophic hypogonadism HP:0000815 Bicornuate uterus HP:0000813 Abnormal internal genitalia HP:0000812 Abnormal external genitalia HP:0000811 Urinary tract atresia HP:0000809 Penoscrotal hypospadias HP:0000808 Glandular hypospadias HP:0000807 Enuresis HP:0000805 Xanthine stones HP:0000804 Xanthine nephrolithiasis HP:0000804 Urinary xanthine stones HP:0000804 Venal cortical cysts HP:0000803 Renal cortical cysts HP:0000803 Cortical cysts HP:0000803 Impotence HP:0000802 Erectile dysfunction HP:0000802 Renal dysplasia, cystic HP:0000800 Renal cystic dysplasia HP:0000800 Cystic renal dysplasia HP:0000800 Bilateral cystic dysplasia HP:0000800 Renal steatosis HP:0000799 Fatty kidney HP:0000799 Oligospermia HP:0000798 Urethral obstruction HP:0000796 Abnormality of the urethra HP:0000795 IgA nephropathy HP:0000794 IgA deposition in the glomerulus HP:0000794 Membranoproliferative glomerulonephritis HP:0000793 Uric acid urolithiasis HP:0000791 Uric acid nephrolithiasis HP:0000791 Hematuria HP:0000790 Infertility HP:0000789 Renal stones HP:0000787 Renal calculi HP:0000787 Nephrolithiasis HP:0000787 Kidney stones HP:0000787 Primary amenorrhea HP:0000786 Abnormality of the scapula HP:0000782 Thymus hypoplasia HP:0000778 Hypoplasia of the thymus HP:0000778 Thymic hypoplasia HP:0000777 Abnormality of the thymus HP:0000777 Diaphragmatic hernia HP:0000776 Congenital diaphragmatic hernia HP:0000776 Diaphragmatic defect HP:0000775 Abnormality of the diaphragm HP:0000775 Reduced anterior-posterior chest diameter HP:0000774 Narrow thorax HP:0000774 Narrow shoulders HP:0000774 Narrow chest HP:0000774 Low chest circumference HP:0000774 Short ribs HP:0000773 Rib hypoplasia HP:0000773 Hypoplastic ribs HP:0000773 Rib anomalies HP:0000772 Rib abnormalities HP:0000772 Abnormality of the ribs HP:0000772 Gynecomastia HP:0000771 Gynaecomastia HP:0000771 Pectus excavatum or pectus carinatum HP:0000766 Pectus excavatum or carinatum HP:0000766 Pectus deformity HP:0000766 Pectus deformities HP:0000766 Pectus carinatum or pectus excavatum HP:0000766 Abnormality of the sternum HP:0000766 Abnormality of the thorax HP:0000765 Abnormality of the chest HP:0000765 Peripheral axonal degeneration HP:0000764 Sensory neuropathy HP:0000763 Peripheral sensory neuropathy HP:0000763 Slowed nerve conduction velocities HP:0000762 Slow nerve conduction velocity HP:0000762 Reduced nerve conduction velocities HP:0000762 Delayed nerve conduction velocity HP:0000762 Decreased nerve conduction velocity HP:0000762 Decreased nerve conduction velocities (NCV) HP:0000762 Peripheral nervous system disease HP:0000759 Abnormal peripheral nervous system morphology HP:0000759 Impaired use of nonverbal behaviours HP:0000758 Impaired use of nonverbal behaviors HP:0000758 Lack of insight HP:0000757 Agoraphobia HP:0000756 Autism with high cognitive abilities HP:0000753 Hyperactivity HP:0000752 Hyperactive behavior HP:0000752 Personality changes HP:0000751 Personality change HP:0000751 Speech difficulties HP:0000750 Speech delay HP:0000750 Speech and language difficulties HP:0000750 Speech and language delay HP:0000750 Poor speech development HP:0000750 Poor speech acquisition HP:0000750 Poor language development HP:0000750 Late-onset speech development HP:0000750 Language development deficit HP:0000750 Language delayed HP:0000750 Language delay HP:0000750 Impaired speech development HP:0000750 Impaired speech and language development HP:0000750 Delayed speech development HP:0000750 Delayed speech and language development HP:0000750 Delayed speech acquisition HP:0000750 Delayed speech HP:0000750 Delayed language development HP:0000750 Deficiency of speech development HP:0000750 Paroxysmal laughter HP:0000749 Paroxysmal bursts of laughter HP:0000749 Inappropriate laughter HP:0000748 Delusions HP:0000746 Lack of motivation HP:0000745 Diminished motivation HP:0000745 Low frustration tolerance HP:0000744 Frontal release signs HP:0000743 Frontal release reflexes HP:0000743 Self-mutilation HP:0000742 Self mutilation HP:0000742 Apathy HP:0000741 Anxiety (with pheochromocytoma) HP:0000740 Anxiety disease HP:0000739 Anxiety HP:0000739 Hallucinations HP:0000738 Hallucination HP:0000738 Irritability HP:0000737 Short attention span HP:0000736 Poor attention span HP:0000736 Poor social interactions HP:0000735 Impaired social interactions HP:0000735 Impaired social interaction HP:0000735 Disinhibition HP:0000734 Sterotyped behavior HP:0000733 Stereotypy HP:0000733 Stereotypical motor behaviors HP:0000733 Stereotypic behaviors HP:0000733 Stereotypic behavior HP:0000733 Stereotyped, repetitive behaviour HP:0000733 Stereotyped behaviors HP:0000733 Stereotyped behavior HP:0000733 Inflexible adherence to routines or rituals HP:0000732 Pervasive developmental disorder HP:0000729 Autistic behaviors HP:0000729 Autistic behavior HP:0000729 Autism spectrum disorders HP:0000729 Autism spectrum disorder HP:0000729 Impaired ability to form peer relationships HP:0000728 Frontal lobe dementia HP:0000727 Progressive dementia HP:0000726 Dementia, progressive HP:0000726 Dementia HP:0000726 Psychotic episodes HP:0000725 Restrictive behaviour HP:0000723 Restrictive behavior, interests, and activities HP:0000723 Restrictive behavior HP:0000723 Restricted behavior HP:0000723 Obsessive-compulsive disorder HP:0000722 Obsessive-compulsive behavior HP:0000722 Obsessive compulsive disorder HP:0000722 Obsessive compulsive behavior HP:0000722 Lack of spontaneous play HP:0000721 Mood swings HP:0000720 Inappropriate behavior HP:0000719 physical aggression HP:0000718 Aggressiveness HP:0000718 Aggressive behaviour HP:0000718 Aggressive behavior HP:0000718 Aggression HP:0000718 Autism HP:0000717 Depressive disorder HP:0000716 Depression HP:0000716 Agitation HP:0000713 Emotional lability HP:0000712 Emotional instability HP:0000712 Restlessness HP:0000711 Hyperorality HP:0000710 Hyperoralia HP:0000710 Psychosis HP:0000709 Psychiatric disturbances HP:0000708 Psychiatric disorders HP:0000708 Behavioural/Psychiatric abnormality HP:0000708 Behavioral/psychiatric abnormalities HP:0000708 Behavioral symptoms HP:0000708 Behavioral problems HP:0000708 Behavioral disturbances HP:0000708 Behavioral disorders HP:0000708 Behavioral changes HP:0000708 Behavioral abnormality HP:0000708 Neurological abnormality HP:0000707 Neurologic abnormalities HP:0000707 Abnormality of the nervous system HP:0000707 Unerupted tooth HP:0000706 Amelogenesis imperfecta HP:0000705 Periodontitis HP:0000704 Periodontal disease HP:0000704 Dentinogenesis imperfecta HP:0000703 Periapical radiolucency HP:0000700 Periapical radiolucencies HP:0000700 Diastema HP:0000699 Peg-shaped teeth HP:0000698 Peg tooth HP:0000698 Peg shaped teeth HP:0000698 Conical tooth HP:0000698 Conical teeth HP:0000698 Delayed permanent dentition HP:0000696 Delayed eruption of secondary teeth HP:0000696 Delayed eruption of permanent teeth HP:0000696 Neonatal teeth HP:0000695 Natal tooth HP:0000695 Natal teeth HP:0000695 Shell teeth HP:0000694 Misalignment of teeth HP:0000692 Malpositioned teeth HP:0000692 Malposition of teeth HP:0000692 Malaligned teeth HP:0000692 Abnormality of teeth spacing HP:0000692 Abnormal teeth spacing HP:0000692 Abnormal dental position HP:0000692 Small teeth HP:0000691 Microdontia HP:0000691 Agenesis of maxillary lateral incisor HP:0000690 Absent upper lateral incisors HP:0000690 Malocclusion HP:0000689 Dental malocclusion HP:0000689 Widely-spaced teeth HP:0000687 Widely spaced teeth HP:0000687 Wide-spaced teeth HP:0000687 Multiple diastemata HP:0000687 Hypoplastic teeth HP:0000685 Hypoplasia of teeth HP:0000685 Late tooth eruption HP:0000684 Late eruption of teeth HP:0000684 Eruption, delayed HP:0000684 Delayed tooth eruption HP:0000684 Delayed teeth eruption HP:0000684 Delayed eruption of teeth HP:0000684 Delayed eruption HP:0000684 Delayed dental eruption HP:0000684 Delayed dental development HP:0000684 Greyish enamel HP:0000683 Grayish enamel HP:0000683 Enamel abnormality HP:0000682 Enamel abnormalities HP:0000682 Abnormality of dental enamel HP:0000682 Abnormal tooth enamel HP:0000682 Delayed primary teeth eruption HP:0000680 Delayed eruption of primary teeth HP:0000680 Delayed eruption of deciduous teeth HP:0000680 Taurodontism HP:0000679 Taurodontia HP:0000679 Dental overcrowding HP:0000678 Easy bruising HP:0000978 Easy bruisability HP:0000978 Bruising susceptibility HP:0000978 Bruisability HP:0000978 Velvety skin texture HP:0000977 Velvety skin HP:0000977 Soft skin HP:0000977 Eczematoid dermatitis HP:0000976 Sweating HP:0000975 Increased sweating HP:0000975 Hyperhidrosis HP:0000975 Diaphoresis HP:0000975 Stretchable skin HP:0000974 Skin hyperextensibility HP:0000974 Skin hyperelasticity HP:0000974 Hyperextensible skin HP:0000974 Hyperelastic skin HP:0000974 Skin laxity HP:0000973 Loose skin HP:0000973 Lax skin HP:0000973 Cutis laxa HP:0000973 Thickened palms and soles HP:0000972 Thick palms and soles HP:0000972 Palmoplantar keratosis HP:0000972 Palmoplantar keratoses HP:0000972 Palmoplantar hyperkeratosis HP:0000972 Hyperkeratosis of the palms and soles HP:0000972 Hyperkeratosis of palms and soles HP:0000972 Sweat gland disease HP:0000971 Abnormality of the sweat gland HP:0000971 Abnormalities of sweating HP:0000971 Anhidrosis HP:0000970 Oedema HP:0000969 Hydrops HP:0000969 Edema HP:0000969 Ectodermal dysplasia HP:0000968 Petechiae HP:0000967 Oligohidrosis HP:0000966 Hypohidrosis HP:0000966 Decreased sweating HP:0000966 Decreased ability to sweat HP:0000966 Livedo reticularis HP:0000965 Cutis marmorata HP:0000965 Eczema HP:0000964 Thin skin HP:0000963 Hyperkeratosis HP:0000962 Cyanosis HP:0000961 Sacral dimple HP:0000960 Pilonidal dimple HP:0000960 Xerosis HP:0000958 Dry skin HP:0000958 Cafe-au-lait spots HP:0000957 Cafe-au-lait spot HP:0000957 Cafe-au-lait macules HP:0000957 Cafe au lait spots HP:0000957 Acanthosis nigricans HP:0000956 Transverse palmar crease HP:0000954 Single transverse palmar creases HP:0000954 Single transverse palmar crease HP:0000954 Single palmar creases HP:0000954 Single palmar crease HP:0000954 Single flexion crease HP:0000954 Simian creases HP:0000954 Simian crease HP:0000954 Skin hyperpigmentation HP:0000953 Increased skin pigmentation HP:0000953 Hyperpigmentation of the skin HP:0000953 Cutaneous hyperpigmentation HP:0000953 Jaundice HP:0000952 dermopathy HP:0000951 dermatopathy HP:0000951 Skin abnormality HP:0000951 Abnormality of the skin HP:0000951 Dumbbell-shaped long bone HP:0000947 Dumbbell widening of long bone metaphyses HP:0000947 Small iliac bones HP:0000946 Short and small iliac bones HP:0000946 Hypoplastic ilia HP:0000946 Abnormality of the metaphyses HP:0000944 Dysostosis multiplex HP:0000943 Short diaphyses HP:0000941 Abnormality of the diaphyses HP:0000940 Abnormal diaphysis morphology HP:0000940 Osteoporosis HP:0000939 Osteopenia HP:0000938 Generalized osteopenia HP:0000938 Decreased bone mineral density HP:0000938 Thickened cortices of long bones HP:0000935 Thickened cortex of long bones HP:0000935 Cortical thickening of the long bones HP:0000935 Broad cortex of long bones HP:0000935 Chondrocalcinosis HP:0000934 Posterior fossa cyst at the fourth ventricle HP:0000933 Posterior fossa anomaly HP:0000932 Abnormality of the posterior fossa HP:0000932 Abnormality of the posterior cranial fossa HP:0000932 Thinning and bulging of the posterior fossa bones HP:0000931 Thinning and bulging of posterior fossa bones HP:0000931 Elevated imprint of the transverse sinuses HP:0000930 Abnormality of the skull HP:0000929 Abnormality of skeletal maturation HP:0000927 Platyspondyly HP:0000926 Flattened vertebral bodies HP:0000926 Flattened vertebrae HP:0000926 Flat vertebral bodies HP:0000926 Abnormality of the vertebral column HP:0000925 Abnormality of the spine HP:0000925 Abnormality of the backbone HP:0000925 Abnormal vertebral column HP:0000925 Abnormal spine HP:0000925 Skeletal anomalies HP:0000924 Skeletal abnormalities HP:0000924 Abnormality of the skeletal system HP:0000924 Beaded ribs HP:0000923 Posterior rib cupping HP:0000922 Anterior and posterior rib cupping HP:0000922 Missing ribs HP:0000921 Decreased rib number HP:0000921 Absent ribs HP:0000921 Widened costochondral junction HP:0000920 Wide costochondral junctions HP:0000920 Prominent costochondral junction HP:0000920 Enlargement of the costochondral junction HP:0000920 Enlarged costochondral junctions HP:0000920 Costochondral thickening HP:0000920 Costochondral juctions abnormal HP:0000919 Abnormality of the costochondral junction HP:0000919 Scapular exostoses HP:0000918 Scapulae exostoses HP:0000918 Superior pectus carinatum HP:0000917 Pectus carinatum superiorly HP:0000917 Broad clavicles HP:0000916 Pectus excavatum of inferior sternum HP:0000915 Pectus excavatum inferiorly HP:0000915 Shield chest HP:0000914 Broad chest HP:0000914 Posterior rib fusion HP:0000913 Sprengel deformity HP:0000912 Sprengel anomaly HP:0000912 Congenital, upward displacement of the scapula HP:0000912 Flat glenoid fossa HP:0000911 Dental crowding HP:0000678 Crowded teeth HP:0000678 Partial anodontia HP:0000677 Oligodontia HP:0000677 Abnormality of the incisor HP:0000676 Prominent, protruding upper incisors HP:0000675 Prominent upper incisors HP:0000675 Macrodontia of permanent maxillary central incisor HP:0000675 Long maxillary central incisors HP:0000675 Dental agenesis HP:0000674 Anodontia HP:0000674 Frequent caries HP:0000670 Early dental caries HP:0000670 Dental decay HP:0000670 Dental caries HP:0000670 Carious teeth HP:0000670 Caries HP:0000670 Hypodontia HP:0000668 Phthisis bulbi HP:0000667 Nystagmus, horizontal HP:0000666 Horizontal nystagmus HP:0000666 Unibrow HP:0000664 Synophrys HP:0000664 Synophris HP:0000664 Poor night vision HP:0000662 Nyctalopia HP:0000662 Farsightedness HP:0000540 Abnormality of refraction HP:0000539 Pseudopapilledema HP:0000538 Epicanthus inversus HP:0000537 Thin, sparse eyebrows HP:0000535 Thin eyebrows HP:0000535 Sparse eyebrows HP:0000535 Sparse eyebrow HP:0000535 Hypotrichosis of eyebrow HP:0000535 Abnormality of the eyebrow HP:0000534 Chorioretinal thinning HP:0000533 Chorioretinal atrophy HP:0000533 Chorioretinal abnormality HP:0000532 Corneal deposits HP:0000531 Corneal crystals HP:0000531 Visual loss, progressive HP:0000529 Vision loss, progressive HP:0000529 Slowly progressive visual loss HP:0000529 Progressive visual loss HP:0000529 Progressive visual impairment HP:0000529 Progressive visual acuity loss HP:0000529 Progressive vision loss HP:0000529 Progressive loss of vision HP:0000529 Loss of visual acuity HP:0000529 Decreased visual acuity, progressive HP:0000529 Ocular absence HP:0000528 No globe of eye HP:0000528 No eyeball HP:0000528 Missing globe of eye HP:0000528 Missing eyeball HP:0000528 Clinical anophthalmia, unilateral/bilateral HP:0000528 Anophthalmia, clinical HP:0000528 Anophthalmia HP:0000528 Unusually long eyelashes HP:0000527 Long eyelashes HP:0000527 Ciliary trichomegaly HP:0000527 Aniridia HP:0000526 Abnormality of the iris HP:0000525 Telangiectasia, conjunctival HP:0000524 Conjunctival telangiectasia HP:0000524 Conjunctival telangiectases HP:0000524 Subcapsular opacities HP:0000523 Subcapsular lenticular cataracts HP:0000523 Subcapsular cataracts HP:0000523 Subcapsular cataract HP:0000523 Alacrima HP:0000522 Absent tear secretion HP:0000522 Absent lacrimal fluids HP:0000522 Absence of tears in the eyes HP:0000522 Protruding eyes HP:0000520 Proptosis HP:0000520 Prominent globes HP:0000520 Prominent eyes HP:0000520 Ocular proptosis HP:0000520 Exophthalmos HP:0000520 Anterior bulging of the globe HP:0000520 Congenital cataracts, bilateral HP:0000519 Congenital cataracts HP:0000519 Congenital cataract HP:0000519 Cataracts, lenticular, bilateral HP:0000519 Cataract, congenital HP:0000519 Bilateral congenital cataracts HP:0000519 Bilateral cataracts HP:0000519 Lens opacity HP:0000518 Lens opacities HP:0000518 Cataracts HP:0000518 Cataract HP:0000518 Lens disease HP:0000517 Abnormality of the lens HP:0000517 Slow visual tracking HP:0000514 Slow saccadic eye movements HP:0000514 Slow saccades HP:0000514 Slow eye movements HP:0000514 Flattened or absent electroretinogram (ERG) HP:0000512 ERG abnormal HP:0000512 Abnormal electroretinography HP:0000512 Abnormal electroretinogram (ERG) HP:0000512 Abnormal electroretinogram HP:0000512 Abnormal ERG HP:0000512 Vertical supranuclear gaze palsy HP:0000511 Vertical gaze palsy HP:0000511 Upgaze palsy HP:0000511 Rod-cone dystrophy HP:0000510 Retinitis pigmentosa HP:0000510 Conjunctivitis, recurrent HP:0000509 Conjunctivitis HP:0000509 Ptosis HP:0000508 Eyelid ptosis HP:0000508 Blepharoptosis HP:0000508 Telecanthus HP:0000506 Dystopia canthorum HP:0000506 Visual impairment HP:0000505 Poor vision HP:0000505 Impaired vision HP:0000505 Abnormality of vision HP:0000504 Abnormality of sight HP:0000504 Tortuosity of conjunctival vessels HP:0000503 Abnormality of the conjunctiva HP:0000502 Glaucoma HP:0000501 Eyelash abnormality HP:0000499 Abnormality of the eyelashes HP:0000499 Abnormal eyelashes HP:0000499 Blepharitis HP:0000498 Globe retraction and deviation on abduction HP:0000497 Oculomotor abnormalities HP:0000496 Ocular movement abnormalities HP:0000496 Eye movement abnormalities HP:0000496 Abnormality of eye movement HP:0000496 Abnormal ocular movements HP:0000496 Abnormal movement of the globe of the eye HP:0000496 Abnormal motility of the globe of the eye HP:0000496 Abnormal eye movements HP:0000496 Abnormal eye movement HP:0000496 Abnormal eye motility HP:0000496 Abnormal extraocular movements HP:0000496 Abnormal extraocular movement HP:0000496 Recurrent corneal ulcerations HP:0000495 Recurrent corneal ulceration HP:0000495 Recurrent corneal erosions HP:0000495 Epithelial corneal erosions HP:0000495 Corneal ulcerations HP:0000495 Corneal erosions, recurrent HP:0000495 Palpebral fissures down-slanted HP:0000494 Downward-slanting palpebral fissures HP:0000494 Downward slanting palpebral fissures HP:0000494 Downward slanted palpebral fissures HP:0000494 Downslanting palpebral fissures HP:0000494 Downslanting palpebral fissure HP:0000494 Downslanted palpebral fissures HP:0000494 Down-slanting palpebral fissures HP:0000494 Down-slanting palpebral fissure HP:0000494 Down-slanted palpebral fissures HP:0000494 Down slanting palpebral fissures HP:0000494 Antimongoloid slanted palpebral fissures HP:0000494 Antimongoloid slant of palpebral fissures HP:0000494 Antimongoloid eye slant HP:0000494 Abnormality of the fovea HP:0000493 Abnormality of the eyelids HP:0000492 Abnormality of the eyelid HP:0000492 Keratitis HP:0000491 Sunken eyes HP:0000490 Ocular depression HP:0000490 Enophthalmos HP:0000490 Deeply set eye HP:0000490 Deep-set eyes HP:0000490 Deep set eye HP:0000490 obsolete Abnormality of globe location or size HP:0000489 Retinopathy HP:0000488 Congenital strabismus HP:0000487 Strabismus HP:0000486 Squint eyes HP:0000486 Squint HP:0000486 Heterotropia HP:0000486 Cross-eyed HP:0000486 Megalocornea HP:0000485 Macrocornea HP:0000485 Increased corneal diameter HP:0000485 Anterior megalophthalmos HP:0000485 Hyperopic astigmatism HP:0000484 Astigmatism HP:0000483 Microcornea HP:0000482 Decreased corneal diameter HP:0000482 Cornela disease HP:0000481 Corneal abnormality HP:0000481 Corneal abnormalities HP:0000481 Abnormality of the cornea HP:0000481 Retinal coloboma HP:0000480 Retinal disease HP:0000479 Anomaly of the retina HP:0000479 Abnormality of the retina HP:0000479 Abnormal retina HP:0000479 Eye disease HP:0000478 Abnormality of the eye HP:0000478 Abnormal eye HP:0000478 Cystic hygroma of the neck HP:0000476 Cystic hygroma HP:0000476 Broad neck HP:0000475 Thickened nuchal skin fold HP:0000474 Excess nuchal skin HP:0000474 Torticollis HP:0000473 Spasmodic torticollis HP:0000473 Cervical dystonia HP:0000473 Long neck HP:0000472 Gastrointestinal angiodysplasia HP:0000471 Short neck HP:0000470 Increased adipose tissue around the neck HP:0000468 Neck muscle weakness HP:0000467 Limited neck range of motion HP:0000466 Webbed neck HP:0000465 Pterygium colli HP:0000465 Abnormality of the breast HP:0000769 Pectus carinatum HP:0000768 Pectus excavatum HP:0000767 Funnel chest HP:0000767 Sternal anomalies HP:0000766 Pectus excavatum/carinatum HP:0000766 Neck webbing HP:0000465 Abnormality of the neck HP:0000464 Upturned nose HP:0000463 Upturned nasal tips HP:0000463 Upturned nasal tip HP:0000463 Nostrils anteverted HP:0000463 Nasal tip, upturned HP:0000463 Anteverted nostrils HP:0000463 Anteverted nose HP:0000463 Anteverted nares HP:0000463 Narrow nose HP:0000460 Anosmia HP:0000458 Flat nose HP:0000457 Depressed nasal ridge HP:0000457 Notched nasal tip HP:0000456 Bifid nasal tip HP:0000456 Nasal tip, wide HP:0000455 Nasal tip, broad HP:0000455 Broad, upturned nose HP:0000455 Broad upturned nose HP:0000455 Broad nasal tip HP:0000455 Flared nostrils HP:0000454 Flared nasal alae HP:0000454 Choanal atresia HP:0000453 Coanal stenosis HP:0000452 Choanal stenosis HP:0000452 Hypoplastic nasal wings HP:0000430 Hypoplastic nasal alae HP:0000430 Hypoplastic nares HP:0000430 Hypoplastic alar nasae HP:0000430 Hypoplastic alar cartilage HP:0000430 Hypoplastic alae nasi HP:0000430 Hypoplastic alae nasae HP:0000430 Alar cartilage hypoplasia HP:0000430 Ala nasi, underdeveloped HP:0000430 Abnormality of the nasal alae HP:0000429 Abnormality of the nasal ala HP:0000429 Prominent nasal root HP:0000426 Prominent nasal bridge HP:0000426 High nasal bridge HP:0000426 Elevated nasal bridge HP:0000426 Abnormality of the nasal root HP:0000422 Abnormality of the nasal bridge HP:0000422 nosebleed HP:0000421 nose bleeding HP:0000421 Epistaxis HP:0000421 Short nasal septum HP:0000420 Abnormality of the nasal septum HP:0000419 Pinched nose HP:0000418 Narrow nasal ridge HP:0000418 Slender nose HP:0000417 Abnormality of the choanae HP:0000415 Bulbous nose HP:0000414 Bulbous nasal tip HP:0000414 External auditory meatus atresia HP:0000413 External auditory meatal atresia HP:0000413 External auditory canal atresia HP:0000413 External acoustic meatus atresia HP:0000413 Auditory canal atresia HP:0000413 Atretic external auditory canals HP:0000413 Atretic external auditory canal HP:0000413 Atretic auditory canals HP:0000413 Atretic auditory canal HP:0000413 Atresia of the external auditory canals HP:0000413 Atresia of the external auditory canal HP:0000413 Absent external auditory canals HP:0000413 Absent auditory canals HP:0000413 Protruding ears HP:0000411 Protruding ear HP:0000411 Prominent ears HP:0000411 Prominent ear HP:0000411 Mixed hearing loss HP:0000410 Mixed hearing impairment HP:0000410 Hearing loss, mixed HP:0000410 Sensorineural hearing loss, progressive HP:0000408 Progressive sensorineural hearing impairment HP:0000408 Progressive bilateral sensorineural hearing loss HP:0000408 Hearing loss, sensorineural, progressive HP:0000408 Hearing loss, sensorineural, bilateral, progressive HP:0000408 Hearing loss, progressive sensorineural HP:0000408 Bilateral progressive sensorineural hearing loss HP:0000408 sensorineural hearing loss HP:0000407 Sensorineural hearing impairment HP:0000407 Sensorineural deafness HP:0000407 Hearing loss, sensorineural HP:0000407 Hearing loss, conductive HP:0000405 Conductive hearing loss HP:0000405 Conductive hearing impairment HP:0000405 Conductive deafness HP:0000405 Conduction deafness HP:0000405 Susceptibility to otitis media HP:0000403 Recurrent otitis media HP:0000403 Recurrent episodes of otitis media HP:0000403 Otitis media, recurrent HP:0000403 Multiple episodes of otitis media HP:0000403 Frequent otitis media HP:0000403 Stenotic external auditory canal HP:0000402 Stenosis of the external auditory canal HP:0000402 Narrow external auditory meatus HP:0000402 Narrow external auditory canals HP:0000402 Narrow auditory canals HP:0000402 External auditory canal stenosis HP:0000402 Macrotia HP:0000400 Large, protruding ears HP:0000400 Large, prominent pinnae HP:0000400 Large, prominent ears HP:0000400 Large, floppy ears HP:0000400 Large protruding ears HP:0000400 Large prominent ears HP:0000400 Large pinnae HP:0000400 Large ears HP:0000400 Large dysplastic ears HP:0000400 Prelingual sensorineural hearing impairment HP:0000399 Prelingual sensorineural deafness HP:0000399 Deafness, sensorineural, prelingual HP:0000399 Overfolded helix HP:0000396 Overfolded helices HP:0000396 Overfolded ears HP:0000396 Over-folded helices HP:0000396 Prominent antihelix HP:0000395 Lop ear HP:0000394 Thickened helices HP:0000391 Thick helix HP:0000391 Otitis media, chronic HP:0000389 Chronic otitis media HP:0000389 Chronic ear infection HP:0000389 Otitis media HP:0000388 Lobeless ears HP:0000387 Earlobe, absent HP:0000387 Absent earlobe HP:0000387 Absent ear lobes HP:0000387 Small earlobes HP:0000385 Small earlobe HP:0000385 Hypoplastic lobules HP:0000385 Hypoplastic earlobes HP:0000385 Skin tag on the posterior cheek HP:0000384 Skin tag in front of the ear HP:0000384 Preauricular tags HP:0000384 Preauricular tag, isolated (skin covered and composed of elastic cartilage) HP:0000384 Preauricular tag HP:0000384 Preauricular skin tags HP:0000384 Preauricular skin tag HP:0000384 Periauricular skin tag HP:0000384 Abnormality of periauricular region HP:0000383 Stapes ankylosis HP:0000381 Simple, cup-shaped ears HP:0000378 Cupped ears HP:0000378 Cupped ear HP:0000378 Cup-shaped ears HP:0000378 Capuchin ears HP:0000378 Simple ears HP:0000377 Poorly defined conchae HP:0000377 Minor malformation of the auricles HP:0000377 Malformed external ears HP:0000377 Malformed ears HP:0000377 Malformed auricles HP:0000377 Malformation of auricle HP:0000377 Dysplastic ears HP:0000377 Deformed ears HP:0000377 Deformed auricles HP:0000377 Auricular malformation HP:0000377 Abnormally shaped ears HP:0000377 Abnormality of the pinna HP:0000377 Abnormal form of ears HP:0000377 Mondini malformation HP:0000376 Incomplete partition of the cochlea type II HP:0000376 Abnormality of cochlea HP:0000375 Auditory canal abnormality HP:0000372 Abnormality of the auditory canal HP:0000372 Acute otitis media HP:0000371 Middle ear abnormality HP:0000370 Middle ear abnormalities HP:0000370 Abnormality of the middle ear HP:0000370 Melotia HP:0000369 Lowset ears HP:0000369 Low-set ears HP:0000369 Low set ears HP:0000369 Low-set, posteriorly rotated ears HP:0000368 Low-set posteriorly rotated ears HP:0000368 Abnormality of the nose HP:0000366 Hypoacusis HP:0000365 Hearing loss HP:0000365 Hearing impairment HP:0000365 Hearing defect HP:0000365 Deafness HP:0000365 Congenital hearing loss HP:0000365 Congenital deafness HP:0000365 Hearing abnormality HP:0000364 Abnormal hearing HP:0000364 Abnormality of earlobe HP:0000363 Abnormality of ear lobe HP:0000363 Abnormal earlobe HP:0000363 Otosclerosis HP:0000362 Pulsatile tinnitus (tympanic paraganglioma) HP:0000361 Tinnitus HP:0000360 Inner ear abnormality HP:0000359 Abnormality of the inner ear HP:0000359 Posteriorly-rotated ears HP:0000358 Posteriorly-angulated ears HP:0000358 Posteriorly rotated ears HP:0000358 Posteriorly rotated auricles HP:0000358 Posteriorly rotated HP:0000358 Posteriorly angulated ears HP:0000358 Ear, posterior angulation, increased HP:0000358 External ear position defect HP:0000357 Abnormal location of ears HP:0000357 Outer ear abnormality HP:0000356 Malformed pinnae HP:0000356 External ear malformations HP:0000356 Ear anomalies HP:0000356 Abnormality of the outer ear HP:0000356 Abnormality of the external ear HP:0000356 Abnormality of the auricle HP:0000356 Abnormal pinnae HP:0000356 Small forehead HP:0000350 Widow's peak HP:0000349 Night-blindness HP:0000662 Night blindness HP:0000662 Difficulties with night vision HP:0000662 Palpebral fissure narrowing on adduction HP:0000661 Lipemia retinalis HP:0000660 Peters anomaly HP:0000659 Eyelid apraxia HP:0000658 Oculomotor apraxia HP:0000657 Ocular motor apraxia HP:0000657 Defective or absent horizontal voluntary eye movements HP:0000657 Ectropion HP:0000656 Vitreoretinal degeneration HP:0000655 Reduced or abolished electroretinogram HP:0000654 Reduced electroretinogram (ERG) HP:0000654 Reduced electroretinogram HP:0000654 Flattened or absent electroretinogram HP:0000654 Decreased light- and dark-adapted electroretinogram amplitude HP:0000654 Decreased electroretinogram response HP:0000654 Decreased electroretinogram (ERG) amplitude HP:0000654 Decreased electroretinogram HP:0000654 Decreased amplitudes on flash visual electroretinogram HP:0000654 Sparse eyelashes HP:0000653 Scanty eyelashes HP:0000653 Scant eyelashes HP:0000653 Lower lid coloboma HP:0000652 Lower eyelid coloboma HP:0000652 Coloboma of lower eyelid HP:0000652 Double vision HP:0000651 Diplopia HP:0000651 Abnormal amplitude of pattern reversal visual evoked potentials HP:0000650 VEP abnormalities HP:0000649 Abnormality of visual evoked potentials HP:0000649 Abnormal visual-evoked potentials HP:0000649 Abnormal visual evoked responses HP:0000649 Abnormal visual evoked potential HP:0000649 Abnormal vision evoked potentials HP:0000649 Optic-nerve degeneration HP:0000648 Optic nerve atrophy HP:0000648 Optic atrophy HP:0000648 Sclerocornea HP:0000647 Wandering eyes HP:0000646 Wandering eye HP:0000646 Lazy eye HP:0000646 Amblyopia HP:0000646 Eyelid twitching HP:0000643 Periorbital puffiness HP:0000629 Periorbital fullness HP:0000629 Posterior embryotoxon HP:0000627 Embryotoxon HP:0000627 Notched eyelid HP:0000625 Eyelid coloboma HP:0000625 Cleft eyelid HP:0000625 Supranuclear ophthalmoplegia HP:0000623 Blurred vision HP:0000622 Entropion HP:0000621 Dacrocystitis HP:0000620 Impaired convergence HP:0000619 Convergence insufficiency HP:0000619 Legal blindness HP:0000618 Blindness HP:0000618 Irregular visual pursuit movements HP:0000617 Impaired smooth pursuit ocular movements HP:0000617 Disrupted ocular pursuit movements HP:0000617 Abnormality of ocular smooth pursuit HP:0000617 Abnormal smooth pursuits HP:0000617 pupillary constriction HP:0000616 constricted pupils HP:0000616 Miosis HP:0000616 Pupillary abnormality HP:0000615 Pupillary abnormalities HP:0000615 Abnormality of the pupil HP:0000615 Abnormality of the nasolacrimal system HP:0000614 Photophobia HP:0000613 Photodysphoria HP:0000613 Light hypersensitivity HP:0000613 Extreme light sensitivity HP:0000613 Keyhole iris HP:0000612 Iris coloboma HP:0000612 Coloboma of the iris HP:0000612 Coloboma of iris HP:0000612 obsolete Choroid coloboma HP:0000611 Coloboma of choroid HP:0000611 Choroidal coloboma HP:0000611 Choroid disease HP:0000610 Abnormality of the choroid HP:0000610 Optic nerve hypoplasia HP:0000609 Hypoplastic optic nerves HP:0000609 Pigmented macular degeneration HP:0000608 Macular degeneration HP:0000608 Periorbital wrinkling HP:0000607 Periorbital wrinkles HP:0000607 Excess periorbital skin wrinkling HP:0000607 Abnormality of the periorbital region HP:0000606 Supranuclear gaze paralysis HP:0000605 Supranuclear gaze palsy HP:0000605 Central scotomata HP:0000603 Central scotoma HP:0000603 Paralysis of extraocular eye movement HP:0000602 Ophthalmoplegia HP:0000602 Eye muscle paralysis HP:0000602 Ocular hypotelorism HP:0000601 Hypotelorism HP:0000601 Closely spaced eyes HP:0000601 Abnormality of the pharynx HP:0000600 Abnormality of the frontal hairline HP:0000599 Ear anomaly HP:0000598 Abnormality of the ear HP:0000598 Weakness of extraocular eye movement HP:0000597 Ophthalmoparesis HP:0000597 Extraocular muscle paralysis HP:0000597 Extraocular muscle palsy HP:0000597 Shallow anterior chamber HP:0000594 Ocular anterior chamber abnormality HP:0000593 Anterior chamber anomalies HP:0000593 Abnormality of the anterior chamber HP:0000593 Bluish sclerae HP:0000592 Blue sclerae HP:0000592 Blue sclera HP:0000592 Abnormality of the sclera HP:0000591 Progressive external ophthalmoplegia HP:0000590 External ophthalmoplegia, progressive (PEO) HP:0000590 Ocular colobomas HP:0000589 Ocular coloboma HP:0000589 Coloboma HP:0000589 Optic nerve coloboma HP:0000588 Optic disk coloboma HP:0000588 Coloboma of optic nerve HP:0000588 optic nerve abnormalities HP:0000587 Abnormality of the optic nerve HP:0000587 decreased depth of orbits HP:0000586 decreased depth of eye sockets HP:0000586 Small shallow orbits HP:0000586 Shallow orbits HP:0000586 Shallow eye sockets HP:0000586 Calcific band keratopathy HP:0000585 Band keratopathy HP:0000585 Punctate corneal epithelial erosions HP:0000584 Upward slanting palpebral fissures HP:0000582 Upward slanting of palpebral fissures HP:0000582 Upward slanted palpebral fissures HP:0000582 Upslanting palpebral fissures HP:0000582 Upslanted palpebral fissures HP:0000582 Upslanted palpebral fissure HP:0000582 Mongoloid slant HP:0000582 Narrow palpebral fissures HP:0000581 Blepharophimosis HP:0000581 Pigmentary retinopathy HP:0000580 Nasolacrimal duct obstruction HP:0000579 Lacrimal duct obstruction HP:0000579 Exotropia HP:0000577 Centrocecal scotoma HP:0000576 Scotoma HP:0000575 Thick eyebrows HP:0000574 Thick eyebrow HP:0000574 Prominent eyebrows HP:0000574 Hypertrichosis of the eyebrows HP:0000574 Hypertrichosis of the eyebrow HP:0000574 Heavy eyebrows HP:0000574 Dense eyebrow HP:0000574 Bushy eyebrows HP:0000574 Retinal hemorrhages HP:0000573 Retinal hemorrhage HP:0000573 Retinal bleeding HP:0000573 Visual loss HP:0000572 Vision loss HP:0000572 Loss of vision HP:0000572 Hypometric saccades HP:0000571 Impaired saccades HP:0000570 Abnormality of saccadic eye movements HP:0000570 Nanophthalmos HP:0000568 Microphthalmos HP:0000568 Microphthalmia HP:0000568 Choroidoretinal coloboma HP:0000567 Chorioretinal coloboma HP:0000567 Esotropia HP:0000565 Convergent strabismus HP:0000565 Nasolacrimal duct atresia HP:0000564 Lacrimal duct atresia HP:0000564 Imperforate nasolacrimal ducts HP:0000564 Keratoconus HP:0000563 Atrichia of eyelashes HP:0000561 Absent eyelashes HP:0000561 Corneal scarring HP:0000559 Rieger anomaly HP:0000558 Buphthalmos HP:0000557 Retinal dystrophy HP:0000556 Leukocoria HP:0000555 Uveitis HP:0000554 Abnormality of the uvea HP:0000553 Tritanomaly HP:0000552 Dyschromatopsia, blue-yellow HP:0000552 Blue/yellow color vision defect HP:0000552 Blue-yellow dyschromatopsia HP:0000552 Blue yellow color blindness HP:0000552 Color vision defects HP:0000551 Color vision defect, severe HP:0000551 Color vision defect HP:0000551 Abnormality of color vision HP:0000551 Abnormal color vision HP:0000551 Undetectable electroretinogram HP:0000550 Undetectable ERG HP:0000550 No light-evoked response on electroretinogram HP:0000550 Extinguished electroretinogram HP:0000550 Extinction of electroretinogram HP:0000550 Absent electroretinogram HP:0000550 Abolished electroretinogram HP:0000550 Disconjugate eye movements HP:0000549 Abnormal conjugate eye movement HP:0000549 Cone/cone-rod dystrophy HP:0000548 Cone-rod retinal dystrophy HP:0000548 Cone dystrophy HP:0000548 Tapetoretinal degeneration HP:0000547 Retinal degeneration HP:0000546 Near sightedness HP:0000545 Near sighted HP:0000545 Myopia HP:0000545 Close sighted HP:0000545 Progressive paralysis or weakness of muscles of eye movement HP:0000544 Progressive paralysis or weakness of muscles of eye motility HP:0000544 Ophthalmoplegia externa HP:0000544 External ophthalmoplegia HP:0000544 Chronic progressive external ophthalmoplegia HP:0000544 CPEO HP:0000544 Pale optic disk HP:0000543 Pale optic discs HP:0000543 Pale optic disc HP:0000543 Optic disk pallor HP:0000543 Optic disc pallor HP:0000543 Disc pallor HP:0000543 Impaired ocular adduction HP:0000542 Retinal detachment HP:0000541 Detached retina HP:0000541 Long-sightedness HP:0000540 Hyperopia HP:0000540 Hypermetropia HP:0000540 High forehead HP:0000348 Small mandible HP:0000347 Small jaw HP:0000347 Severe hypoplasia of mandible HP:0000347 Robin mandible HP:0000347 Micrognathia of lower jaw HP:0000347 Micrognathia HP:0000347 Mandibular hypoplasia HP:0000347 Hypoplastic mandible condyle HP:0000347 Hypoplastic mandible HP:0000347 Hypoplasia of mandible HP:0000347 Whistling appearance HP:0000346 Long philtrum HP:0000343 Temporal narrowness HP:0000341 Narrow forehead HP:0000341 Narrow bitemporal width HP:0000341 Narrow bitemporal diameter HP:0000341 Intertemporal narrowing HP:0000341 Bitemporal skull narrowing HP:0000341 Bitemporal narrowness HP:0000341 Bitemporal narrowing HP:0000341 Sloping forehead HP:0000340 Receding forehead HP:0000340 Inclined forehead HP:0000340 Pugilistic facies HP:0000339 Hypomimic face HP:0000338 Maxillary retrusion HP:0000327 Maxillary retrognathia HP:0000327 Maxillary micrognathia HP:0000327 Maxillary deficiency HP:0000327 Hypoplastic maxillary bones HP:0000327 Hypoplasia of the maxilla HP:0000327 abnormality of the upper jaw bone HP:0000326 Abnormality of the maxilla HP:0000326 Triangular facies HP:0000325 Triangular face HP:0000325 Face with broad temples and narrow chin HP:0000325 Unsymmetrical face HP:0000324 Uneven sides of face HP:0000324 Unequal sides of face HP:0000324 Unbalanced face HP:0000324 Facial asymmetry HP:0000324 Crooked face HP:0000324 Asymmetry of right and left side of face HP:0000324 Asymmetric facies HP:0000324 Short philtrum HP:0000322 Square face HP:0000321 Bird-like facies HP:0000320 Smooth philtrum HP:0000319 Simple philtrum HP:0000319 Philtrum, smooth HP:0000319 Indistinct philtrum HP:0000319 Flat philtrum HP:0000319 Facial myokymia HP:0000317 Widened interpupillary distance HP:0000316 Widely spaced eyes HP:0000316 Wide-set eyes HP:0000316 Ocular hypertelorism HP:0000316 Increased interpupillary distance HP:0000316 Hypertelorism HP:0000316 Abnormality of the orbital region HP:0000315 circular face HP:0000311 Round, full face HP:0000311 Round facies HP:0000311 Round facial appearance HP:0000311 Round face HP:0000311 Anomaly of the midface HP:0000309 Abnormality of the midface HP:0000309 Retromicrognathia HP:0000308 Microretrognathia HP:0000308 Witch's chin HP:0000307 Small pointed chin HP:0000307 Pointy chin HP:0000307 Pointed chin HP:0000307 Abnormality of the chin HP:0000306 Relative mandibular prognathism HP:0000303 Prominent jaw HP:0000303 Prominent chin HP:0000303 Prognathism HP:0000303 Prognathia HP:0000303 Mandibular prognathism HP:0000303 Mandibular prognathia HP:0000303 Mandibular macrognathia HP:0000303 Mandibular hyperplasia HP:0000303 Mandibular excess HP:0000303 Mandible prognathism HP:0000303 Macromandible HP:0000303 Lower jaw hyperplasia HP:0000303 Lower jaw excess HP:0000303 Large mandible HP:0000303 Large lower jaw HP:0000303 Enlarged mandible HP:0000303 Big mandible HP:0000303 Big lower jaw HP:0000303 Abnormality of facial musculature HP:0000301 Oval face HP:0000300 Masklike facies HP:0000298 Mask-like facies HP:0000298 Lack of facial expression HP:0000298 Expressionless face HP:0000298 Amimia HP:0000298 Reduced facial muscle tone HP:0000297 Low facial muscle tone HP:0000297 Facial hypotonia HP:0000297 Decreased facial muscle tone HP:0000297 Doll-like facies HP:0000295 Low-set frontal hairline HP:0000294 Low frontal hairline HP:0000294 Low anterior hairline HP:0000294 Puffy cheeks HP:0000293 Large cheeks HP:0000293 Full cheeks HP:0000293 Chubby cheeks HP:0000293 Big cheeks HP:0000293 Apple cheeks HP:0000293 Loss of subcutaneous adipose tissue from face HP:0000292 Loss of facial subcutaneous adipose tissue HP:0000292 Loss of facial adipose tissue HP:0000292 Abnormality of facial adipose tissue HP:0000291 Abnormality of the forehead HP:0000290 Wide philtrum HP:0000289 Broad philtrum HP:0000289 Abnormality of the philtrum HP:0000288 Abnormality of the paralabial region HP:0000288 Abnormal philtrum HP:0000288 Increased facial adipose tissue HP:0000287 Epicanthus palpebralis HP:0000286 Epicanthus HP:0000286 Epicanthic folds HP:0000286 Epicanthal folds HP:0000286 Epicanthal fold HP:0000286 ocular abnormalities HP:0000284 obsolete Abnormality of the ocular region HP:0000284 Wide face HP:0000283 Broad face HP:0000283 Facial edema HP:0000282 Thickened facial skin with coarse facial features HP:0000280 Rounded and heavy facial features HP:0000280 Coarse facies HP:0000280 Coarse facial features HP:0000280 Coarse face HP:0000280 Retrognathia HP:0000278 Receding mandible HP:0000278 Receding chin HP:0000278 Abnormality of the mandible HP:0000277 Vertical overgrowth of face HP:0000276 Vertical enlargement of face HP:0000276 Vertical elongation of face HP:0000276 Vertical Facial Excess HP:0000276 Long face HP:0000276 Thin face HP:0000275 Narrow facies HP:0000275 Narrow face HP:0000275 Small facies HP:0000274 Small face HP:0000274 Short and narrow face HP:0000274 Microfacies HP:0000274 Microface HP:0000274 Hypoplasia of face HP:0000274 Facial hypoplasia HP:0000274 Facial grimacing HP:0000273 Zygomatic flattening HP:0000272 Malar hypoplasia HP:0000272 Malar flattening HP:0000272 Depressed malar region HP:0000272 abnormality of the visage HP:0000271 abnormality of the physiognomy HP:0000271 abnormality of the countenance HP:0000271 Facial anomaly HP:0000271 Disorder of face HP:0000271 Anomaly of face HP:0000271 Abnormality of the face HP:0000271 Abnormal face HP:0000271 Open sutures HP:0000270 Late-closing fontanelle HP:0000270 Late closure of fontanelle HP:0000270 Late closing fontanelles HP:0000270 Delayed fontanelle closure HP:0000270 Delayed fontanel closure HP:0000270 Delayed cranial suture closure HP:0000270 Delayed closure of the fontanelles HP:0000270 Delayed closure of fontanels HP:0000270 Delayed closure of fontanelles HP:0000270 Delayed closure of fontanel HP:0000270 Broad late closing cranial sutures HP:0000270 protruding occiput HP:0000269 protruding back of the head HP:0000269 prominent posterior skull HP:0000269 prominent posterior head HP:0000269 prominent posterior cranium HP:0000269 prominent back of the skull HP:0000269 prominent back of the head HP:0000269 Prominent occiput HP:0000269 narrow skull shape HP:0000268 narrow head shape HP:0000268 narrow cranium shape HP:0000268 Turridolichocephaly HP:0000268 Scaphocephaly HP:0000268 Large dolichocephalic skull HP:0000268 Dolichocephaly HP:0000268 Cranial asymmetry HP:0000267 Mastoiditis HP:0000265 Abnormality of the mastoid HP:0000264 Abnormality of mastoid process of temporal bone HP:0000264 Oxycephaly HP:0000263 Acrocephaly HP:0000263 tower skull shape HP:0000262 tower cranium shape HP:0000262 tall shaped skull HP:0000262 tall shaped head HP:0000262 tall shaped cranium HP:0000262 Turricephaly HP:0000262 Wide open anterior fontanelle HP:0000260 Wide anterior fontanelle HP:0000260 Wide anterior fontanel HP:0000260 Large open anterior fontanelle HP:0000260 Eyelid spasm HP:0000643 Blepharospasm HP:0000643 Red/green color vision defect HP:0000642 Red-green dyschromatopsia HP:0000642 Red green color blindness HP:0000642 Dyschromatopsia with red-green confusion HP:0000642 Dysmetric saccades HP:0000641 Dysmetric eye saccades HP:0000641 Dysmetric eye movements HP:0000641 Gaze-evoked nystagmus HP:0000640 Nystagmus HP:0000639 Wide palpebral fissures HP:0000637 Wide palpebral fissure HP:0000637 Long palpebral fissures HP:0000637 Long palpebral fissure HP:0000637 Upper eyelid colobomas HP:0000636 Upper eyelid coloboma HP:0000636 Coloboma of the upper eyelid HP:0000636 Blue irides HP:0000635 Blue eyes HP:0000635 Impaired ocular abduction HP:0000634 Decreased lacrimation HP:0000633 Lacrimation abnormality HP:0000632 Abnormality of tear production HP:0000632 Retinal artery tortuousity HP:0000631 Retinal arterial tortuosity HP:0000631 Retinal arterial abnormality HP:0000630 Abnormality of retinal arteries HP:0000630 Triangular nasal tip HP:0000451 Prominent nose HP:0000448 Large nose HP:0000448 Disproportionately large nose HP:0000448 Pear-shaped nose HP:0000447 Pinched nasal bridge HP:0000446 Nasal bridge, thin HP:0000446 Nasal Bridge, Narrow HP:0000446 Narrow nasal root HP:0000446 Narrow nasal bridge HP:0000446 Wide nose HP:0000445 Broad nose HP:0000445 Hooked nose HP:0000444 Convex nasal ridge HP:0000444 Beaklike protrusion HP:0000444 Beaked nose HP:0000444 Nasal tip, retruded HP:0000437 Nasal tip, recessed HP:0000437 Nasal tip, depressed HP:0000437 Flattened nasal tip HP:0000437 Flat nasal tip HP:0000437 Depressed nasal tip HP:0000437 Abnormality of the nasal tip HP:0000436 Nasal mucosa telangiectasia HP:0000434 Abnormality of the nasal mucosa HP:0000433 Widened nasal bridge HP:0000431 Wide nasal bridge HP:0000431 Nasal bridge broad HP:0000431 Broadened nasal bridge HP:0000431 Broad nasal root HP:0000431 Broad nasal bridge HP:0000431 Broad flat nasal bridge HP:0000431 Underdeveloped nasal alae HP:0000430 Thin hypoplastic alae nasi HP:0000430 Nasal cartilage hypoplasia HP:0000430 Hypoplastic nostrils HP:0000430 Large open anterior fontanel HP:0000260 Large anterior fontanels HP:0000260 Large anterior fontanelle HP:0000260 Large anterior fontanel HP:0000260 large skull HP:0000256 large cranium HP:0000256 large calvaria HP:0000256 big skull HP:0000256 big head HP:0000256 big cranium HP:0000256 big calvaria HP:0000256 Macrocrania HP:0000256 Macrocephaly HP:0000256 Large head circumference HP:0000256 Large head HP:0000256 Acute sinusitis HP:0000255 Progressive microcephaly HP:0000253 Microcephaly, progressive HP:0000253 Microcephaly, postnatal, progressive HP:0000253 small skull HP:0000252 small head HP:0000252 small cranium HP:0000252 small calvarium HP:0000252 decreased circumference of cranium HP:0000252 Small head circumference HP:0000252 Reduced head circumference HP:0000252 Abnormality of the head HP:0000234 Abnormal head HP:0000234 Thin vermillion HP:0000233 Thin vermilion borders HP:0000233 Thin vermilion border HP:0000233 Thin lips HP:0000233 Protruding lower lip HP:0000232 Everted prominent lower lip HP:0000232 Everted lower lip vermilion HP:0000232 Everted lower lip HP:0000232 Drooping lower lip HP:0000232 Gingivitis HP:0000230 Oral cavity telangiectasia HP:0000228 Tongue telangiectasia HP:0000227 Gingival bleeding HP:0000225 Decreased taste sensation HP:0000224 Decreased taste HP:0000224 Abnormality of taste sensation HP:0000223 Hyperkeratosis, gingival HP:0000222 Gingival hyperkeratosis HP:0000222 Scrotal tongue HP:0000221 Prominent tongue grooves HP:0000221 Plicated tongue HP:0000221 Lingue plicata HP:0000221 Furrowed tongue HP:0000221 Fissured tongue HP:0000221 Velopharyngeal insufficiency HP:0000220 Velopharyngeal incompetence HP:0000220 Thin vermilion border of upper lip HP:0000219 Thin upper lips HP:0000219 Thin upper lip vermilion HP:0000219 Thin upper lip HP:0000219 High-arched palate HP:0000218 High, arched palate HP:0000218 High palate HP:0000218 Xerostomia HP:0000217 Reduced salivation HP:0000217 Dry mouth HP:0000217 Secondary alveolar ridges HP:0000216 Broad secondary alveolar ridge HP:0000216 Thick vermilion border of upper lip HP:0000215 Thick upper lip vermilion HP:0000215 Thick upper lip HP:0000215 Prominent upper lip HP:0000215 Telangiectasia of the lips HP:0000214 Lip telangiectasia HP:0000214 Lip telangiectases HP:0000214 Gum hypertrophy HP:0000212 Gingival overgrowth HP:0000212 Gingival hypertrophy HP:0000212 Gingival hyperplasia HP:0000212 Trismus HP:0000211 Triangular shaped mouth HP:0000207 Triangular mouth HP:0000207 Glossitis HP:0000206 Pursed lips HP:0000205 Cleft upper lip HP:0000204 Cleft of upper lip HP:0000204 Cleft lip HP:0000204 Oral clefting HP:0000202 Oral cleft HP:0000202 Cleft lip/palate HP:0000202 Cleft lip, cleft palate HP:0000202 Robin sequence HP:0000201 Pierre-Robin sequence HP:0000201 Pierre Robin sequence HP:0000201 Short tongue frenulum HP:0000200 Short lingual frenulum HP:0000200 Tongue nodules HP:0000199 Absent stensen duct HP:0000198 Absence of Stensen duct HP:0000198 Abnormality of parotid gland HP:0000197 Lower lip pit HP:0000196 Open mouth appearance HP:0000194 Open mouth HP:0000194 Uvula bifida HP:0000193 Cleft uvula HP:0000193 Bifid uvula HP:0000193 Supernumerary oral frenulum HP:0000191 Extra oral frenulum HP:0000191 Accessory oral frenulum HP:0000191 Abnormality of oral frenula HP:0000190 Narrow palate HP:0000189 Short upper lip HP:0000188 Widened alveolar ridges HP:0000187 Broad alveolar ridges HP:0000187 Broad alveolar margins HP:0000187 Cleft soft palate HP:0000185 Difficulty in tongue movements HP:0000183 Movement abnormality of the tongue HP:0000182 Lobulated tongue HP:0000180 Lobulate tongue HP:0000180 Thick lower lip vermilion HP:0000179 Thick lower lip HP:0000179 Prominent lower lip HP:0000179 Full lower lip HP:0000179 Abnormality of lower lip HP:0000178 Abnormality of upper lip HP:0000177 Submucous clefting HP:0000176 Submucous cleft hard palate HP:0000176 Submucosal cleft palate HP:0000176 Cleft palate HP:0000175 Palate abnormality HP:0000174 Abnormality of the palate HP:0000174 Abnormality of the uvula HP:0000172 Small tongue HP:0000171 Rudimentary tongue HP:0000171 Microglossia HP:0000171 Hypoplastic tongue HP:0000171 Hypoplasia of the tongue HP:0000171 Hypoglossia HP:0000171 Gingival fibrous nodules HP:0000169 Gingival fibromatosis HP:0000169 Gingival fibroma HP:0000169 Gingival abnormality HP:0000168 Abnormality of the gingiva HP:0000168 Severe periodontitis HP:0000166 Tooth abnormalities HP:0000164 Dental anomalies HP:0000164 Dental abnormality HP:0000164 Dental abnormalities HP:0000164 Abnormality of the teeth HP:0000164 Abnormal teeth HP:0000164 Abnormal dentition HP:0000164 Abnormality of the oral cavity HP:0000163 Glossoptosis HP:0000162 Midline cleft lip HP:0000161 Median cleft lip HP:0000161 Small oral aperture HP:0000160 Small mouth HP:0000160 Narrow mouth HP:0000160 Microstomia HP:0000160 Lip abnormality HP:0000159 Abnormality of the lip HP:0000159 Abnormal lip HP:0000159 Tongue hypertrophy HP:0000158 Macroglossia HP:0000158 Large tongue HP:0000158 Hypertrophy of the tongue HP:0000158 Hyperplasia of the tongue HP:0000158 Tongue abnormality HP:0000157 Abnormality of the tongue HP:0000157 Abnormal tongue HP:0000157 Oral ulcer HP:0000155 Wide mouth HP:0000154 Macrostomia HP:0000154 Large mouth HP:0000154 Broad mouth HP:0000154 Abnormality of the mouth HP:0000153 Abnormal mouth HP:0000153 Head and neck abnormality HP:0000152 Abnormality of head or neck HP:0000152 uterus absent HP:0000151 Aplasia of the uterus HP:0000151 Absent uterus HP:0000151 Gonadoblastoma HP:0000150 Ovarian gonadoblastoma HP:0000149 Gonadoblastoma, female HP:0000149 Vaginal atresia HP:0000148 Sclerocystic ovaries HP:0000147 Polycystic ovary disease HP:0000147 Polycystic ovary HP:0000147 Polycystic ovaries HP:0000147 Transverse vaginal septum HP:0000145 Transverse vaginal membrane HP:0000145 Decreased fertility HP:0000144 Abnormal fertility HP:0000144 Rectovaginal fistula HP:0000143 Vaginal malformation HP:0000142 Abnormality of the vagina HP:0000142 Amenorrhea HP:0000141 Menstrual abnormalities HP:0000140 Abnormality of the menstrual cycle HP:0000140 Uterine prolapse HP:0000139 Ovarian cystic abnormality HP:0000138 Ovarian cyst HP:0000138 Cystic ovaries HP:0000138 Cystic abnormalities of the ovaries HP:0000138 Ovarian disease HP:0000137 Abnormality of the ovary HP:0000137 Abnormality of the ovaries HP:0000137 Bifid uterus HP:0000136 Hypogonadism HP:0000135 Hypogonadism, female HP:0000134 Female hypogonadism HP:0000134 Pure gonadal dysgenesis HP:0000133 Mixed gonadal dysgenesis HP:0000133 Gonadal dysgenesis HP:0000133 hypermenorrhea HP:0000132 Menorrhagia HP:0000132 Dull facial expression HP:0000338 Wide forehead HP:0000337 Increased bitemporal width HP:0000337 Increased bitemporal dimension HP:0000337 Broad forehead HP:0000337 Protruding supraorbital ridge HP:0000336 Prominent supraorbital ridges HP:0000336 Prominent supraorbital ridge HP:0000336 Prominent brow HP:0000336 Vertical hypoplasia of chin HP:0000331 Small chin HP:0000331 Short lower third of face HP:0000331 Short chin HP:0000331 Facial hemangiomata HP:0000329 Facial hemangioma HP:0000329 Upper jaw retrusion HP:0000327 Upper jaw deficiency HP:0000327 Small upper jaw HP:0000327 Small maxilla HP:0000327 Micromaxilla HP:0000327 Uterine leiomyoma HP:0000131 Uterine fibroid HP:0000131 Benign uterine leiomyomas HP:0000131 Uterine malformations HP:0000130 Uterine abnormalities HP:0000130 Abnormality of the uterus HP:0000130 Renal potassium wasting HP:0000128 Salt-wasting HP:0000127 Salt wasting HP:0000127 Renal salt-wasting HP:0000127 Renal salt wasting HP:0000127 Hydronephrosis HP:0000126 Pelvic kidney HP:0000125 Renal tubular dysfunction HP:0000124 Renal tubular disease HP:0000124 Renal tubular defect HP:0000124 Nephritis HP:0000123 Unilateral renal agenesis HP:0000122 Unilateral kidney agenesis HP:0000122 Nephrocalcinosis HP:0000121 Urogenital anomalies HP:0000119 Urogenital abnormalities HP:0000119 Genitourinary tract malformation HP:0000119 Genitourinary tract anomalies HP:0000119 Genitourinary dysplasia HP:0000119 Genitourinary disease HP:0000119 Genitourinary abnormality HP:0000119 Abnormality of the genitourinary system HP:0000119 Phenotypic abnormality HP:0000118 Organ abnormality HP:0000118 Tubular phosphate reabsorption low HP:0000117 Renal phosphate wasting HP:0000117 Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate (TMP/GFR) HP:0000117 Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate HP:0000117 Decreased renal tubular phosphate reabsorption HP:0000117 Selective proximal tubular damage HP:0000114 Proximal tubulopathy HP:0000114 Proximal tubule dysfunction HP:0000114 Proximal tubular defect HP:0000114 Proximal renal tubulopathy HP:0000114 Proximal renal tubule defect HP:0000114 Polycystic kidneys HP:0000113 Polycystic kidney dysplasia HP:0000113 Polycystic kidney disease HP:0000113 Enlarged polycystic kidneys HP:0000113 Nephropathy HP:0000112 Renal juxtaglomerular cell hypertrophy/hyperplasia HP:0000111 Renal dysplasia HP:0000110 Renal adysplasia HP:0000110 Dysplastic kidneys HP:0000110 Renal corticomedullary cysts HP:0000108 Renal corticomedullary cystic disease HP:0000108 Corticomedullary renal cysts HP:0000108 Renal cysts HP:0000107 Renal cyst HP:0000107 Cystic kidneys HP:0000107 Cystic kidney disease HP:0000107 Renal enlargement HP:0000105 Nephromegaly HP:0000105 Large kidneys HP:0000105 Large kidney HP:0000105 Enlarged kidneys HP:0000105 Renal aplasia HP:0000104 Renal agenesis HP:0000104 Absent kidney HP:0000104 Polyuria HP:0000103 Increased urine output HP:0000103 Nephrotic syndrome HP:0000100 Nephrosis HP:0000100 Glomrulonephritis HP:0000099 Glomerulonephritis HP:0000099 Tall stature HP:0000098 Increased linear growth HP:0000098 Increased body height HP:0000098 Accelerated linear growth HP:0000098 focal glomerulosclerosis HP:0000097 Focal segmental glomerulosclerosis HP:0000097 Focal and segmental glomerulosclerosis HP:0000097 Focal and segmental glomerular sclerosis HP:0000097 Glomerulosclerosis HP:0000096 Abnormality of the glomerulus HP:0000095 Proteinuria HP:0000093 Tubular atrophy HP:0000092 Renal tubular cell atrophy HP:0000092 Abnormality of the renal tubule HP:0000091 juvenile nephronophthisis HP:0000090 Nephronophthisis HP:0000090 Small kidneys HP:0000089 Renal hypoplasia HP:0000089 Hypoplastic kidneys HP:0000089 Hypoplastic kidney HP:0000089 Renal ectopia HP:0000086 Ectopic kidneys HP:0000086 Ectopic kidney HP:0000086 Displaced kidney HP:0000086 Horseshoe kidneys HP:0000085 Horseshoe kidney HP:0000085 Renal insufficiency HP:0000083 Renal failure in adulthood HP:0000083 Renal failure HP:0000083 Duplicated renal collecting system HP:0000081 Duplicated collecting system HP:0000081 Double urinary collecting systems on intravenous pyelography HP:0000081 Double collecting system HP:0000081 Genital functional abnormality HP:0000080 Abnormality of reproductive system physiology HP:0000080 Abnormality of genital physiology HP:0000080 Urinary tract anomalies HP:0000079 Urinary tract abnormality HP:0000079 Urinary tract abnormalities HP:0000079 Abnormality of the urinary system HP:0000079 Genital defects HP:0000078 Genital anomalies HP:0000078 Genital abnormality HP:0000078 Genital abnormalities HP:0000078 Abnormality of the reproductive system HP:0000078 Abnormality of the genital system HP:0000078 Renal anomaly HP:0000077 Renal anomalies HP:0000077 Kidney disease HP:0000077 Abnormality of the kidney HP:0000077 Vesicoureteric reflux HP:0000076 Vesicoureteral reflux HP:0000076 Ureteric reflux HP:0000076 Ureteral reflux HP:0000076 Supernumerary kidney HP:0000075 Renal duplication HP:0000075 Ureteropelvic junction obstruction HP:0000074 Pelviureteric junction obstruction HP:0000074 Ureteral duplication HP:0000073 Double ureter HP:0000073 Uroureter HP:0000072 Ureteral dilatation HP:0000072 Megaureter HP:0000072 Hydroureter HP:0000072 Ureteral stenosis HP:0000071 Ureterocele HP:0000070 Ureteral anomalies HP:0000069 Abnormality of the ureters HP:0000069 Abnormality of the ureter HP:0000069 Urethral atresia HP:0000068 Urethral atresia, female HP:0000067 Labial hypoplasia HP:0000066 Hypoplastic labia HP:0000066 Labial hypertrophy HP:0000065 Hypoplastic labia minora HP:0000064 Fused labia minora HP:0000063 Intersex genitalia HP:0000062 Ambiguous genitalia HP:0000062 Ambiguous external genitalia at birth HP:0000062 Ambiguous external genitalia HP:0000062 Ambiguous genitalia, female HP:0000061 Ambiguous genitalia due to virilization HP:0000061 Small clitoris HP:0000060 Hypoplastic clitoris HP:0000060 Clitoral hypoplasia HP:0000060 Small labia majora HP:0000059 Hypoplastic labia majora HP:0000059 Hypoplasia of labia majora HP:0000059 Abnormality of the labia HP:0000058 Prominent clitoris HP:0000057 Enlarged clitoris HP:0000057 Clitoromegaly HP:0000057 Clitoral enlargement HP:0000057 Abnormality of the clitoris HP:0000056 Abnormality of female external genitalia HP:0000055 Abnormal female external genitalia HP:0000055 Small penis HP:0000054 Short penis HP:0000054 Micropenis HP:0000054 Macroorchidism HP:0000053 Large testis HP:0000053 Large testicles HP:0000053 Urethral atresia, male HP:0000052 Perineal hypospadias HP:0000051 Small male external genitalia HP:0000050 Hypoplastic male genitalia HP:0000050 Hypoplastic male external genitalia HP:0000050 Shawl scrotum HP:0000049 Overriding scrotum HP:0000049 Bifid scrotum HP:0000048 Hypospadias HP:0000047 Scrotal hypoplasia HP:0000046 Hypoplastic scrotum HP:0000046 Abnormality of the scrotum HP:0000045 Isolated hypogonadotropic hypogonadism HP:0000044 Hypogonadotrophic hypogonadism HP:0000044 Hypogonadism, hypogonadotropic HP:0000044 Absent external genitalia HP:0000042 Chordee HP:0000041 Long penis HP:0000040 Enlarged penis HP:0000040 Epispadias HP:0000039 Male pseudohermaphroditism HP:0000037 Abnormality of the penis HP:0000036 Anomaly of the testes HP:0000035 Abnormality of the testis HP:0000035 Testicular hydrocele HP:0000034 Hydrocele testis HP:0000034 Hydrocele HP:0000034 Ambiguous genitalia, male HP:0000033 Ambiguous genitalia in males HP:0000033 Abnormality of male external genitalia HP:0000032 Epididymitis HP:0000031 Testicular gonadoblastoma HP:0000030 Gonadoblastoma, male HP:0000030 Testicular atrophy HP:0000029 Undescended testis HP:0000028 Undescended testes HP:0000028 Cryptorchidism HP:0000028 Azoospermia HP:0000027 Male hypogonadism HP:0000026 Functional abnormality of male internal genitalia HP:0000025 Prostatitis HP:0000024 Inguinal hernia HP:0000023 Abnormality of male internal genitalia HP:0000022 Microcephaly HP:0000252 Dense calvaria HP:0000250 wide skull shape HP:0000248 wide head shape HP:0000248 wide cranium shape HP:0000248 broad skull shape HP:0000248 broad head shape HP:0000248 broad cranium shape HP:0000248 Brachycephaly HP:0000248 Sinusitis HP:0000246 Abnormality of the sinuses of the head HP:0000245 Abnormality of the sinuses HP:0000245 Abnormality of the paranasal sinuses HP:0000245 Turribrachycephaly HP:0000244 Brachyturricephaly HP:0000244 wedge shaped skull HP:0000243 wedge shaped head HP:0000243 wedge shaped cranium HP:0000243 triangular skull shape HP:0000243 triangular head shape HP:0000243 triangular cranium shape HP:0000243 Trigonocephaly HP:0000243 Parietal bossing HP:0000242 Bossing of parietal bone HP:0000242 Biparietal bossing HP:0000242 Abnormality of skull size HP:0000240 wide cranial suture HP:0000239 wide bregma sutures HP:0000239 large cranial suture HP:0000239 large bregma sutures HP:0000239 Wide fontanelles HP:0000239 Large, late-closing fontanelle HP:0000239 Large fontanels HP:0000239 Large fontanelles HP:0000239 Large fontanelle HP:0000239 Large fontanel HP:0000239 Enlarged fontanelles HP:0000239 Nonsyndromal hydrocephalus HP:0000238 Hydrocephaly HP:0000238 Hydrocephalus HP:0000238 Small anterior fontanelle HP:0000237 Small anterior fontanel HP:0000237 Abnormality of the anterior fontanelle HP:0000236 abnormality of the skull suture HP:0000235 abnormality of the lambda sutures HP:0000235 abnormality of the cranial sutures HP:0000235 abnormality of the calvarium sutures HP:0000235 abnormality of the bregma sutures HP:0000235 Abnormality of the fontanelles or cranial sutures HP:0000235 Head abnormality HP:0000234 Megacystis HP:0000021 Urinary incontinence HP:0000020 Bladder incontinence HP:0000020 Urinary hesitancy HP:0000019 Nycturia HP:0000017 Nocturia HP:0000017 Urinary retention HP:0000016 Increased post-void residual urine volume HP:0000016 Bladder diverticulum HP:0000015 Bladder diverticula HP:0000015 Abnormality of the bladder HP:0000014 Rudimentary uterus HP:0000013 Hypoplastic uterus HP:0000013 Hypoplasia of the uterus HP:0000013 Urinary urgency HP:0000012 Urgency frequency syndrome HP:0000012 Overactive bladder syndrome HP:0000012 Neurogenic bladder HP:0000011 Urinary tract infections, recurrent HP:0000010 Urinary tract infections HP:0000010 Urinary tract infection HP:0000010 Urinary infection HP:0000010 Recurrent urinary tract infections HP:0000010 Frequent urinary tract infections HP:0000010 Poor bladder function HP:0000009 Functional abnormality of the bladder HP:0000009 Abnormality of female internal genitalia HP:0000008 Autosomal recessive predisposition HP:0000007 Autosomal recessive inheritance HP:0000007 Autosomal recessive form HP:0000007 Autosomal recessive HP:0000007 Autosomal dominant type HP:0000006 Autosomal dominant inheritance HP:0000006 Autosomal dominant form HP:0000006 Autosomal dominant HP:0000006 Mode of inheritance HP:0000005 Inheritance HP:0000005 Multicystic renal dysplasia HP:0000003 Multicystic kidneys HP:0000003 Multicystic kidney dysplasia HP:0000003 Multicystic dysplastic kidney HP:0000003 Abnormality of body height HP:0000002