cerebrooculofacioskeletal syndrome 2

Preferred Label : cerebrooculofacioskeletal syndrome 2;

MeSH note : mutation in ERCC2 (XPD);

Origin ID

C565185;

UMLS CUI

C1853102;

Currated CISMeF NLP mapping
- Cerebrooculofacioskeletal syndrome 2 [OMIM Phenotype]
MeSH term(s) associated for indexing
- arthrogryposis [MeSH Descriptor]
- cataract [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- cerebrooculofacioskeletal syndrome 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebrooculofacioskeletal syndrome 2 [OMIM Phenotype]