Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bb23f6db789d278708e3ad81cebf6a03b> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Bb23f6db789d278708e3ad81cebf6a03b hasDbXref "Orphanet:3206" @default.
- Bb23f6db789d278708e3ad81cebf6a03b type Axiom @default.
- Bb23f6db789d278708e3ad81cebf6a03b annotatedProperty IAO_0000115 @default.
- Bb23f6db789d278708e3ad81cebf6a03b annotatedSource MONDO_0800043 @default.
- Bb23f6db789d278708e3ad81cebf6a03b annotatedTarget "A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality." @default.