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- B91a6438e8b571b582306bd1526869933 hasDbXref "Orphanet:3042" @default.
- B91a6438e8b571b582306bd1526869933 hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- B91a6438e8b571b582306bd1526869933 type Axiom @default.
- B91a6438e8b571b582306bd1526869933 annotatedProperty IAO_0000115 @default.
- B91a6438e8b571b582306bd1526869933 annotatedSource MONDO_0009798 @default.
- B91a6438e8b571b582306bd1526869933 annotatedTarget "A rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy." @default.