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- B998bd27f42f18bf68f13d0d1b3c34fc6 hasDbXref "Orphanet:1295" @default.
- B998bd27f42f18bf68f13d0d1b3c34fc6 type Axiom @default.
- B998bd27f42f18bf68f13d0d1b3c34fc6 annotatedProperty IAO_0000115 @default.
- B998bd27f42f18bf68f13d0d1b3c34fc6 annotatedSource MONDO_0007231 @default.
- B998bd27f42f18bf68f13d0d1b3c34fc6 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.