Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Ba6011855646ebd34201bc47cd5d5dcc8> ?p ?o ?g. }
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- Ba6011855646ebd34201bc47cd5d5dcc8 hasDbXref "Orphanet:163979" @default.
- Ba6011855646ebd34201bc47cd5d5dcc8 type Axiom @default.
- Ba6011855646ebd34201bc47cd5d5dcc8 annotatedProperty IAO_0000115 @default.
- Ba6011855646ebd34201bc47cd5d5dcc8 annotatedSource MONDO_0010412 @default.
- Ba6011855646ebd34201bc47cd5d5dcc8 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.