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- Bcedd5607bbe8c659cd06353344183ef9 hasDbXref "Orphanet:3042" @default.
- Bcedd5607bbe8c659cd06353344183ef9 hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- Bcedd5607bbe8c659cd06353344183ef9 type Axiom @default.
- Bcedd5607bbe8c659cd06353344183ef9 annotatedProperty IAO_0000115 @default.
- Bcedd5607bbe8c659cd06353344183ef9 annotatedSource MONDO_0009798 @default.
- Bcedd5607bbe8c659cd06353344183ef9 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.