Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bddfc279b2854d7a644c92234fd84c4a0> ?p ?o ?g. }
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- Bddfc279b2854d7a644c92234fd84c4a0 hasDbXref "Orphanet:300284" @default.
- Bddfc279b2854d7a644c92234fd84c4a0 type Axiom @default.
- Bddfc279b2854d7a644c92234fd84c4a0 annotatedProperty IAO_0000115 @default.
- Bddfc279b2854d7a644c92234fd84c4a0 annotatedSource MONDO_0012892 @default.
- Bddfc279b2854d7a644c92234fd84c4a0 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.