All diseases

13 entries on 1 page. Showing entries 1 - 13.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
04327 CRS craniosynostosis (CRS) - - 64 46 TCF12 - -
00530 CRS3 craniosynostosis, type 3 (CRS-3, TCF12-related) 615314 AD 7 7 TCF12 - -
06571 EIEE47 Epileptic encephalopathy, early infantile, 47 617166 AD - - FGF12 - -
01834 F12D deficiency, factor XII 234000 AR 54 54 F12 - -
02963 HAE3 angioedema, hereditary, type 3 610618 AD 52 70 F12 - -
07148 HH hypogonadotropic hypogonadism - - 1 1 TCF12 - -
07147 HH26 hypogonadotropic hypogonadism, type 26, with or without anosmia 619718 AD;AR - - TCF12 - -
05128 HTX heterotaxy, visceral (HTX, situs inversus/situs ambiguus) - - 102 100 C1orf127, PKD1L1 - -
07152 HTX14 heterotaxy, visceral, type 14 621080 AR - - C1orf127 - -
00110 NBIA4 neurodegeneration, with brain iron accumulation, type 4 (NBIA-4) 614298 AD;AR - 3 C19orf12 - -
00616 PRLTS Perrault syndrome - - 32 32 C10orf12, CLPP, DAP3, ERAL1, HARS2, HSD17B4, LARS2 - -
03818 SPG43 paraplegia, spastic, type 43, autosomal recessive (SPG-43) 615043 AR - - C19orf12 - -
04647 TNORS Tenorio syndrome (TNORS) 616260 AD - - RNF125 - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.