Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bac61b7f41e37faaca6c9a93647d5b3ad> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Bac61b7f41e37faaca6c9a93647d5b3ad hasDbXref "Orphanet:1295" @default.
- Bac61b7f41e37faaca6c9a93647d5b3ad type Axiom @default.
- Bac61b7f41e37faaca6c9a93647d5b3ad annotatedProperty IAO_0000115 @default.
- Bac61b7f41e37faaca6c9a93647d5b3ad annotatedSource MONDO_0007231 @default.
- Bac61b7f41e37faaca6c9a93647d5b3ad annotatedTarget "Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986." @default.