Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B65f70923e9df0318e48bd78d4d0b4c9b> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B65f70923e9df0318e48bd78d4d0b4c9b hasDbXref "Orphanet:163979" @default.
- B65f70923e9df0318e48bd78d4d0b4c9b type Axiom @default.
- B65f70923e9df0318e48bd78d4d0b4c9b annotatedProperty IAO_0000115 @default.
- B65f70923e9df0318e48bd78d4d0b4c9b annotatedSource MONDO_0010412 @default.
- B65f70923e9df0318e48bd78d4d0b4c9b annotatedTarget "X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported." @default.