Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B2c7df340bb7af7f8b14b6392a618c6cc> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B2c7df340bb7af7f8b14b6392a618c6cc hasDbXref "Orphanet:2963" @default.
- B2c7df340bb7af7f8b14b6392a618c6cc type Axiom @default.
- B2c7df340bb7af7f8b14b6392a618c6cc annotatedProperty IAO_0000115 @default.
- B2c7df340bb7af7f8b14b6392a618c6cc annotatedSource MONDO_0012853 @default.
- B2c7df340bb7af7f8b14b6392a618c6cc annotatedTarget "A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated." @default.