Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B40866fc56a35cf9428dd30adb8ec9cbc> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B40866fc56a35cf9428dd30adb8ec9cbc hasDbXref "Orphanet:1555" @default.
- B40866fc56a35cf9428dd30adb8ec9cbc type Axiom @default.
- B40866fc56a35cf9428dd30adb8ec9cbc annotatedProperty IAO_0000115 @default.
- B40866fc56a35cf9428dd30adb8ec9cbc annotatedSource MONDO_0007412 @default.
- B40866fc56a35cf9428dd30adb8ec9cbc annotatedTarget "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." @default.