Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bcacb7b95f7f939ca5144258f63a0ca0c> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Bcacb7b95f7f939ca5144258f63a0ca0c hasDbXref "Orphanet:1547" @default.
- Bcacb7b95f7f939ca5144258f63a0ca0c type Axiom @default.
- Bcacb7b95f7f939ca5144258f63a0ca0c annotatedProperty IAO_0000115 @default.
- Bcacb7b95f7f939ca5144258f63a0ca0c annotatedSource MONDO_0007409 @default.
- Bcacb7b95f7f939ca5144258f63a0ca0c annotatedTarget "Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988." @default.