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- B57dda463776b9129563c05da652beafa hasDbXref "PMID:10196384" @default.
- B57dda463776b9129563c05da652beafa hasDbXref "PMID:18628313" @default.
- B57dda463776b9129563c05da652beafa hasDbXref "PMID:19894250" @default.
- B57dda463776b9129563c05da652beafa hasDbXref "PMID:9443879" @default.
- B57dda463776b9129563c05da652beafa hasDbXref "https://clinicalgenome.org/affiliation/40060/" @default.
- B57dda463776b9129563c05da652beafa type Axiom @default.
- B57dda463776b9129563c05da652beafa annotatedProperty IAO_0000115 @default.
- B57dda463776b9129563c05da652beafa annotatedSource MONDO_0100506 @default.
- B57dda463776b9129563c05da652beafa annotatedTarget "An autosomal recessive, multisystem condition caused by pathogenic variants of the ERCC6 gene, encoding the DNA excision repair protein, ERCC-6. Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is characterized by growth failure at birth, with little or no postnatal neurologic development in addition to congenital cataracts or other structural anomalies of the eye, early postnatal contractures of the spine (kyphosis, scoliosis) and joints, and death usually occurring by age five years. This term lumps Cockayne syndrome type 2/B (CSB), cerebrooculofacioskeletal syndrome 1 (COFS syndrome), and De Sanctis-Cacchione syndrome into a spectrum of disease." @default.