Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B2fcb0e7dacfd0c8f97d01c20e7e96916> ?p ?o ?g. }
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- B2fcb0e7dacfd0c8f97d01c20e7e96916 hasDbXref "Orphanet:221054" @default.
- B2fcb0e7dacfd0c8f97d01c20e7e96916 type Axiom @default.
- B2fcb0e7dacfd0c8f97d01c20e7e96916 annotatedProperty IAO_0000115 @default.
- B2fcb0e7dacfd0c8f97d01c20e7e96916 annotatedSource MONDO_0008709 @default.
- B2fcb0e7dacfd0c8f97d01c20e7e96916 annotatedTarget "Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date." @default.