Cerebrooculofacioskeletal Syndrome 4

Preferred Label : Cerebrooculofacioskeletal Syndrome 4;

NCIt synonyms : COFS4;

NCIt definition : An autosomal recessive subtype of cerebrooculofacioskeletal syndrome caused by mutation(s) in the ERCC1 gene, encoding DNA excision repair protein ERCC-1.;

Détails

Origin ID

C173104;

UMLS CUI

C1853100;

Currated CISMeF NLP mapping
- Cerebrooculofacioskeletal syndrome 4 [OMIM Phenotype]
- cerebrooculofacioskeletal syndrome 4 [MeSH concept]
- cerebrooculofacioskeletal syndrome 4 [MeSH Supplementary Concept]
- cerebrooculofacioskeletal syndrome 4 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebrooculofacioskeletal syndrome 4 [OMIM Phenotype]
- cerebrooculofacioskeletal syndrome 4 [MeSH Supplementary Concept]
- cerebrooculofacioskeletal syndrome 4 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ERCC1 Gene [NCIt concept]
- ERCC2 Gene [NCIt concept]
- ERCC5 Gene [NCIt concept]
- ERCC6 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients