Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B5efd304a4beef5f2f037e3c6c9a07c70> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B5efd304a4beef5f2f037e3c6c9a07c70 hasDbXref "Orphanet:1131" @default.
- B5efd304a4beef5f2f037e3c6c9a07c70 type Axiom @default.
- B5efd304a4beef5f2f037e3c6c9a07c70 annotatedProperty IAO_0000115 @default.
- B5efd304a4beef5f2f037e3c6c9a07c70 annotatedSource MONDO_0010539 @default.
- B5efd304a4beef5f2f037e3c6c9a07c70 annotatedTarget "X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." @default.