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Dictionary name: bio2rdf-r3-omim

Creator:

jdkim@dbcls.rois.ac.jp

Description:

OMIM in Bio2RDF R3

Entry nameIDLabel
1-30 / 53354 show all
10% due to paternal deletionhttp://bio2rdf.org/omim_resource:9c2bb3fff4ae482abda43e60a58bf7f7
11 pairs of ribshttp://bio2rdf.org/omim_resource:ccc172cecd214062364fc86190d68ffb
11 rib pairshttp://bio2rdf.org/omim_resource:dd22ab3d9b5f813c0db1ac71d195ab82
11 ribshttp://bio2rdf.org/omim_resource:66159570caf390ecf9af11ba6e5030a4
12% due to epimutationhttp://bio2rdf.org/omim_resource:0d62c5d2b130cd0b36457338a5b6a4df
13 pairs of ribshttp://bio2rdf.org/omim_resource:de9b0d2152b7e4ef86ff80c41de1c735
13 pairs of ribs (rare)http://bio2rdf.org/omim_resource:9f09a873e379a5748392ee62b78e1e7b
13 pairs of thoracic ribshttp://bio2rdf.org/omim_resource:73bd3c27463607ca01190aa645b18798
13q- syndrome: family study.http://bio2rdf.org/pubmed:606176
13 ribshttp://bio2rdf.org/omim_resource:d2fb7be54f643c74fff833d027608f1d
15% cases are familialhttp://bio2rdf.org/omim_resource:b61ec63a49ff256f5b43b6d7884ebe77
1,5-diaminopentanuriahttp://bio2rdf.org/omim_resource:d4c6ad502510c548196d5c2964bcc9f9
17-alpha-hydroxylase deficiencyhttp://bio2rdf.org/omim_resource:a2fb1c5757f495f857953cd211bf5514
17-ketosteroid reductase defecthttp://bio2rdf.org/omim_resource:f68a9a4e4ff423139e41e8a9aa5140f8
1 in 17,000 in Chinahttp://bio2rdf.org/omim_resource:110abae6d3704eba0a8c65e2fbc139ab
1 in 19,000 in Japanhttp://bio2rdf.org/omim_resource:94c778f86f747c408f9755e551097904
1 in 50,000 in Koreahttp://bio2rdf.org/omim_resource:84960a8b31a9b72e4bfc3e5021ec1c23
(1) infantile nephropathic ()http://bio2rdf.org/omim_resource:b11fb5e207422ad034a3d1706f16ad65
20, 22 desmolase deficiencyhttp://bio2rdf.org/omim_resource:e99ea7f59ff2e3af26e800a4849c52b7
20-40% patients are asymptomatichttp://bio2rdf.org/omim_resource:4448152c94e2c453aeed221e2ce116a3
2:1 female preponderancehttp://bio2rdf.org/omim_resource:25c16d8edb6b6e24265cbfcfe42477f8
21-hydroxylase deficiencyhttp://bio2rdf.org/omim_resource:384a16f6f4e8774e5e6e0f2dcde4f2b0
21-@HYDROXYLASE POLYMORPHISMhttp://bio2rdf.org/omim_resource:613815_allele_4
21-@HYDROXYLASE POLYMORPHISMhttp://bio2rdf.org/omim_resource:613815_allele_13
21-@HYDROXYLASE POLYMORPHISMhttp://bio2rdf.org/omim_resource:613815_allele_12
22q13 deletion syndrome.http://bio2rdf.org/pubmed:11391650
2-3 and 3-4 finger syndactylyhttp://bio2rdf.org/omim_resource:3a52c472ad8e8edea4eab65128e24114
2-3% due to imprinting defectshttp://bio2rdf.org/omim_resource:2ac162e4dbfc1786c8a546fb41d8d8a0
2-3 finger syndactylyhttp://bio2rdf.org/omim_resource:90e2066205a72b9afa91a6a01b450e87
2-3 or 4-5 toe syndactylyhttp://bio2rdf.org/omim_resource:fdc8c5bd501d460037d228c4bd3671b4

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