Cerebrooculofacioskeletal syndrome 3

Preferred Label : Cerebrooculofacioskeletal syndrome 3;

Symbol : COFS3;

CISMeF acronym : COFS3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the excision repair, complementing defective, in Chinese hamster, 5 gene (ERCC5, 133530.0003);

Laboratory abnormalities : Increased cellular UV sensitivity;

Prefixed ID : #616570;

Détails

Origin ID

616570;

UMLS CUI

C1851443;

Currated CISMeF NLP mapping
- cerebrooculofacioskeletal syndrome 3 [MeSH concept]
- cerebrooculofacioskeletal syndrome 3 [MeSH Supplementary Concept]
Genes related to phenotype
- Ercc excision repair 5, endonuclease [OMIM gene]
HPO term(s)
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Cutaneous photosensitivity [HPO term]
- Decreased fetal movement [HPO term]
- Edema [HPO term]
- Global developmental delay [HPO term]
- Intrauterine growth retardation [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Rocker bottom foot [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- COFS syndrome [ORDO Disease]
- Cockayne syndrome [ORDO Disease]
See also inter- (CISMeF)
- ERCC5 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cerebrooculofacioskeletal syndrome 3 [MeSH concept]
- cerebrooculofacioskeletal syndrome 3 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- COFS syndrome [ORDO Disease]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients