Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Be3c2b7e50b4b2a63af9734fe223f652d> ?p ?o ?g. }
Showing items 1 to 9 of
9
with 100 items per page.
- Be3c2b7e50b4b2a63af9734fe223f652d hasDbXref "PMID:10196384" @default.
- Be3c2b7e50b4b2a63af9734fe223f652d hasDbXref "PMID:18628313" @default.
- Be3c2b7e50b4b2a63af9734fe223f652d hasDbXref "PMID:19894250" @default.
- Be3c2b7e50b4b2a63af9734fe223f652d hasDbXref "PMID:9443879" @default.
- Be3c2b7e50b4b2a63af9734fe223f652d hasDbXref "https://clinicalgenome.org/affiliation/40060/" @default.
- Be3c2b7e50b4b2a63af9734fe223f652d type Axiom @default.
- Be3c2b7e50b4b2a63af9734fe223f652d annotatedProperty IAO_0000115 @default.
- Be3c2b7e50b4b2a63af9734fe223f652d annotatedSource MONDO_0100506 @default.
- Be3c2b7e50b4b2a63af9734fe223f652d 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.