Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B9a811f8b2bbde29d9b2406f6e1d6e23e> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B9a811f8b2bbde29d9b2406f6e1d6e23e hasDbXref "Orphanet:181393" @default.
- B9a811f8b2bbde29d9b2406f6e1d6e23e type Axiom @default.
- B9a811f8b2bbde29d9b2406f6e1d6e23e annotatedProperty IAO_0000115 @default.
- B9a811f8b2bbde29d9b2406f6e1d6e23e annotatedSource MONDO_0015892 @default.
- B9a811f8b2bbde29d9b2406f6e1d6e23e annotatedTarget "Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency." @default.