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- B885e8ec3d9423f81bfd7eb2acbf23251 hasDbXref "Orphanet:300284" @default.
- B885e8ec3d9423f81bfd7eb2acbf23251 type Axiom @default.
- B885e8ec3d9423f81bfd7eb2acbf23251 annotatedProperty IAO_0000115 @default.
- B885e8ec3d9423f81bfd7eb2acbf23251 annotatedSource MONDO_0012892 @default.
- B885e8ec3d9423f81bfd7eb2acbf23251 annotatedTarget "A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features." @default.