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- B92a57be9228292f814776c3551a2528e hasDbXref "Orphanet:238468" @default.
- B92a57be9228292f814776c3551a2528e type Axiom @default.
- B92a57be9228292f814776c3551a2528e annotatedProperty IAO_0000115 @default.
- B92a57be9228292f814776c3551a2528e annotatedSource MONDO_0016535 @default.
- B92a57be9228292f814776c3551a2528e annotatedTarget "A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency)." @default.