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- B9ecced3453e489c5f445779939753dcc hasDbXref "Orphanet:2776" @default.
- B9ecced3453e489c5f445779939753dcc type Axiom @default.
- B9ecced3453e489c5f445779939753dcc annotatedProperty IAO_0000115 @default.
- B9ecced3453e489c5f445779939753dcc annotatedSource MONDO_0009810 @default.
- B9ecced3453e489c5f445779939753dcc annotatedTarget "Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait." @default.