Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bcd878804858cf275f8687b02af5900a1> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Bcd878804858cf275f8687b02af5900a1 hasDbXref "NCIT:C136464" @default.
- Bcd878804858cf275f8687b02af5900a1 type Axiom @default.
- Bcd878804858cf275f8687b02af5900a1 annotatedProperty IAO_0000115 @default.
- Bcd878804858cf275f8687b02af5900a1 annotatedSource MONDO_0007044 @default.
- Bcd878804858cf275f8687b02af5900a1 annotatedTarget "An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding." @default.