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- Bb5f2f7fa275e6dd7aa247b1e45fc04bb hasDbXref "Orphanet:83629" @default.
- Bb5f2f7fa275e6dd7aa247b1e45fc04bb type Axiom @default.
- Bb5f2f7fa275e6dd7aa247b1e45fc04bb annotatedProperty IAO_0000115 @default.
- Bb5f2f7fa275e6dd7aa247b1e45fc04bb annotatedSource MONDO_0010275 @default.
- Bb5f2f7fa275e6dd7aa247b1e45fc04bb annotatedTarget "A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive." @default.