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- Bf8a4ab51c0b88940d04b3f301cc773f3 hasDbXref "Orphanet:2135" @default.
- Bf8a4ab51c0b88940d04b3f301cc773f3 type Axiom @default.
- Bf8a4ab51c0b88940d04b3f301cc773f3 annotatedProperty IAO_0000115 @default.
- Bf8a4ab51c0b88940d04b3f301cc773f3 annotatedSource MONDO_0009569 @default.
- Bf8a4ab51c0b88940d04b3f301cc773f3 annotatedTarget "Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive." @default.