Cerebrooculofacioskeletal syndrome 2

Preferred Label : Cerebrooculofacioskeletal syndrome 2;

Symbol : COFS2;

CISMeF acronym : COFS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the excision repair cross complementing rodent repair deficiency, complementation group 2 gene (ERCC2, 126340.0009);

Prefixed ID : #610756;

Details

Origin ID

610756;

UMLS CUI

C1853102;

Broader ORDO disease(s)
- COFS syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- cerebrooculofacioskeletal syndrome 2 [MeSH concept]
- cerebrooculofacioskeletal syndrome 2 [MeSH Supplementary Concept]
Genes related to phenotype
- Ercc excision repair 2, tfiih core complex helicase subunit [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Camptodactyly of finger [HPO term]
- Cataract [HPO term]
- Congenital onset [HPO term]
- Convex nasal ridge [HPO term]
- Cutaneous photosensitivity [HPO term]
- Death in childhood [HPO term]
- Deeply set eye [HPO term]
- Developmental cataract [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Intrauterine growth retardation [HPO term]
- Kyphoscoliosis [HPO term]
- Large beaked nose [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Rocker bottom foot [HPO term]
- Small for gestational age [HPO term]
- Small scrotum [HPO term]
- Sparse hair [HPO term]
ORDO concept(s)
- COFS syndrome [ORDO Disease]
- Cockayne syndrome [ORDO Disease]
See also inter- (CISMeF)
- ERCC2 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cerebrooculofacioskeletal syndrome 2 [MeSH Supplementary Concept]
- cerebrooculofacioskeletal syndrome 2 [MeSH concept]
Validated automatic mappings to NTBT
- COFS syndrome [ORDO Disease]

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