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Dictionary name: Bio2RDF R3 OMIM

Creator:

joachim.baran@gmail.com

Description:

Labels of the OMIM dataset in Bio2RDF R3.

Entry nameIDLabel
1-30 / 66588 show all
100-fold higher frequency in southern China than Europehttp://bio2rdf.org/omim_resource:9e62f578464991fcd5eb976ee2fd049b100-fold higher frequency in southern China than Europe [omim_resource:9e62f578464991fcd5eb976ee2fd049b]
10-15% with primarily defects of cellular immunityhttp://bio2rdf.org/omim_resource:0b91f2e2549bc821be66bf4ed866f43c10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age [omim_resource:0b91f2e2549bc821be66bf4ed866f43c]
1.02 kb genomic deletion in 85% of Batten disease alleles worldwide http://bio2rdf.org/omim_resource:a1808bf48dad169b95fa9e5a3490f4771.02 kb genomic deletion in 85% of Batten disease alleles worldwide [omim_resource:a1808bf48dad169b95fa9e5a3490f477]
11-BETA-HYDROXYSTEROID DEHYDROGENASEhttp://bio2rdf.org/omim:61423211-BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II; HSD11B2 [omim:614232]
11-BETA-HYDROXYSTEROID DEHYDROGENASEhttp://bio2rdf.org/omim:60071311-BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1 [omim:600713]
11 pairs of ribs http://bio2rdf.org/omim_resource:ccc172cecd214062364fc86190d68ffb11 pairs of ribs [omim_resource:ccc172cecd214062364fc86190d68ffb]
11 rib pairs http://bio2rdf.org/omim_resource:dd22ab3d9b5f813c0db1ac71d195ab8211 rib pairs [omim_resource:dd22ab3d9b5f813c0db1ac71d195ab82]
11 rib pairs in some male patients http://bio2rdf.org/omim_resource:47f240fb982cb09f5f9f91b3d2aaf59711 rib pairs in some male patients [omim_resource:47f240fb982cb09f5f9f91b3d2aaf597]
11 ribs http://bio2rdf.org/omim_resource:66159570caf390ecf9af11ba6e5030a411 ribs [omim_resource:66159570caf390ecf9af11ba6e5030a4]
1,25-dihydroxyvitamin D was elevated in childhood but deficient in adulthood http://bio2rdf.org/omim_resource:aae2f0526b912ec1f4b41717f41f7a691,25-dihydroxyvitamin D was elevated in childhood but deficient in adulthood [omim_resource:aae2f0526b912ec1f4b41717f41f7a69]
13% of cases secondary to familial translocation (often maternally derived) http://bio2rdf.org/omim_resource:14215333eb244cd81364fb604324a52113% of cases secondary to familial translocation (often maternally derived) [omim_resource:14215333eb244cd81364fb604324a521]
13 pairs of ribs http://bio2rdf.org/omim_resource:de9b0d2152b7e4ef86ff80c41de1c73513 pairs of ribs [omim_resource:de9b0d2152b7e4ef86ff80c41de1c735]
13 pairs of ribs (rare) http://bio2rdf.org/omim_resource:9f09a873e379a5748392ee62b78e1e7b13 pairs of ribs (rare) [omim_resource:9f09a873e379a5748392ee62b78e1e7b]
13 pairs of thoracic ribs http://bio2rdf.org/omim_resource:73bd3c27463607ca01190aa645b1879813 pairs of thoracic ribs [omim_resource:73bd3c27463607ca01190aa645b18798]
13 ribs http://bio2rdf.org/omim_resource:d2fb7be54f643c74fff833d027608f1d13 ribs [omim_resource:d2fb7be54f643c74fff833d027608f1d]
14% of patients survive with polyhydramnios http://bio2rdf.org/omim_resource:6085f1c3dc3c4392379fb933739f21ff14% of patients survive with polyhydramnios [omim_resource:6085f1c3dc3c4392379fb933739f21ff]
14 patients in 8 recessive kindreds reported (as of February 2012) http://bio2rdf.org/omim_resource:59afc237118b7faeae89f3f9d67cf27514 patients in 8 recessive kindreds reported (as of February 2012) [omim_resource:59afc237118b7faeae89f3f9d67cf275]
15% cases are familial http://bio2rdf.org/omim_resource:b61ec63a49ff256f5b43b6d7884ebe7715% cases are familial [omim_resource:b61ec63a49ff256f5b43b6d7884ebe77]
1,5-diaminopentanuriahttp://bio2rdf.org/omim_resource:d4c6ad502510c548196d5c2964bcc9f91,5-diaminopentanuria [omim_resource:d4c6ad502510c548196d5c2964bcc9f9]
1-5 finger complete cutaneous syndactyly http://bio2rdf.org/omim_resource:ff3cd6d7d0f2a533d66ab379d70d420e1-5 finger complete cutaneous syndactyly [omim_resource:ff3cd6d7d0f2a533d66ab379d70d420e]
15-HYDROXYPROSTAGLANDIN DEHYDROGENASEhttp://bio2rdf.org/omim:60168815-HYDROXYPROSTAGLANDIN DEHYDROGENASE; HPGD [omim:601688]
1-5mm dark lentigines (especially neck and trunk) http://bio2rdf.org/omim_resource:0f6c46de361f7c4548f7d056d142e0241-5mm dark lentigines (especially neck and trunk) [omim_resource:0f6c46de361f7c4548f7d056d142e024]
15 patients from 5 kindreds reported (as of February 2012) http://bio2rdf.org/omim_resource:142db4b79367b6fae4f9b0dbcb2eb16d15 patients from 5 kindreds reported (as of February 2012) [omim_resource:142db4b79367b6fae4f9b0dbcb2eb16d]
15 to 35-day cyclic fluctuations in formed elements of bloodhttp://bio2rdf.org/omim_resource:d3e594bc6a3288a7a12ec2f622ded33b15 to 35-day cyclic fluctuations in formed elements of blood [omim_resource:d3e594bc6a3288a7a12ec2f622ded33b]
1.61- and 1.76-Mb microduplication of 3q29 http://bio2rdf.org/omim_resource:d46050f7cde2c39e93359e66473d10641.61- and 1.76-Mb microduplication of 3q29 [omim_resource:d46050f7cde2c39e93359e66473d1064]
17-alpha-hydroxylase deficiency http://bio2rdf.org/omim_resource:a2fb1c5757f495f857953cd211bf551417-alpha-hydroxylase deficiency [omim_resource:a2fb1c5757f495f857953cd211bf5514]
17-BETA-HYDROXYSTEROID DEHYDROGENASE Ihttp://bio2rdf.org/omim:10968417-BETA-HYDROXYSTEROID DEHYDROGENASE I; HSD17B1 [omim:109684]
17-BETA-HYDROXYSTEROID DEHYDROGENASE IIhttp://bio2rdf.org/omim:10968517-BETA-HYDROXYSTEROID DEHYDROGENASE II; HSD17B2 [omim:109685]
17-BETA HYDROXYSTEROID DEHYDROGENASE IIIhttp://bio2rdf.org/omim:60557317-BETA HYDROXYSTEROID DEHYDROGENASE III; HSD17B3 [omim:605573]
17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCYhttp://bio2rdf.org/omim:26430017-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY [omim:264300]

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