All diseases

9 entries on 1 page. Showing entries 1 - 9.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01244 KFS1 Klippel-Feil syndrome, type 1, autosomal dominant (KFS1) 118100 AD 1 1 GDF6 - -
04210 LCA Leber congenital amaurosis (LCA) - - 1207 1179 GDF6, GUCY2D, NMNAT1 - -
03908 LCA17 Leber congenital amaurosis, type 17 (LCA17) 615360 AR - - GDF6 - -
00356 MCOP anoophthalmia/microphthalmia - - 137 137 GDF6, MFRP, PRSS56 - -
03250 MCOP4 microphthalmia, isolated, type 4 (MCOP4) 613094 - - - GDF6 - -
05430 MCOPCB microphthalmia, isolated, with coloboma (MCOPCB) - - - - GDF6 - -
03397 MCOPCB6 microphthalmia, isolated, with coloboma, type 6 (MCOPCB6) 613703 AD;DD - - GDF3, GDF6 - -
05892 SYNS synostoses, multiple syndrome (SYNS) - - - - GDF6 - -
05893 SYNS4 synostoses, multiple syndrome, type 4 (SYNS4) 617898 AD - - GDF6 - -
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