Cerebrooculofacioskeletal syndrome 4

Preferred Label : Cerebrooculofacioskeletal syndrome 4;

Symbol : COFS4;

CISMeF acronym : COFS4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the excision-repair cross-complementing group 1 gene (ERCC1, 126380.0001);

Laboratory abnormalities : Patient cells show a defect in transcription-coupled and global genome nucleotide excision repair;

Prefixed ID : #610758;

Details

Origin ID

610758;

UMLS CUI

C1853100;

Broader ORDO disease(s)
- COFS syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Cerebrooculofacioskeletal Syndrome 4 [NCIt concept]
- cerebrooculofacioskeletal syndrome 4 [DO Concept]
- cerebrooculofacioskeletal syndrome 4 [MeSH concept]
- cerebrooculofacioskeletal syndrome 4 [MeSH Supplementary Concept]
DO Cross reference
- cerebrooculofacioskeletal syndrome 4 [DO Concept]
Genes related to phenotype
- Ercc excision repair 1, endonuclease noncatalytic subunit [OMIM gene]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormal retinal morphology [HPO term]
- Abnormality of the genital system [HPO term]
- Abnormality of the vertebral column [HPO term]
- Adducted thumb [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral microphthalmos [HPO term]
- Blepharophimosis [HPO term]
- Brisk reflexes [HPO term]
- Camptodactyly of finger [HPO term]
- Cerebellar hypoplasia [HPO term]
- Congenital onset [HPO term]
- Death in childhood [HPO term]
- Decreased body weight [HPO term]
- Deeply set eye [HPO term]
- Dislocated radial head [HPO term]
- EEG abnormality [HPO term]
- Elbow flexion contracture [HPO term]
- Failure to thrive in infancy [HPO term]
- Flared metaphysis [HPO term]
- Flexion contracture of toe [HPO term]
- Global developmental delay [HPO term]
- Hip dislocation [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Infantile onset [HPO term]
- Intrauterine growth retardation [HPO term]
- Knee flexion contracture [HPO term]
- Kyphoscoliosis [HPO term]
- Low-set, posteriorly rotated ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Nystagmus [HPO term]
- Polymicrogyria [HPO term]
- Premature closure of fontanelles [HPO term]
- Prominent nasal bridge [HPO term]
- Rocker bottom foot [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Simplified gyral pattern [HPO term]
- Slender long bone [HPO term]
- Steep acetabular roof [HPO term]
- Wrist flexion contracture [HPO term]
ORDO concept(s)
- COFS syndrome [ORDO Disease]
- Cockayne syndrome [ORDO Disease]
See also inter- (CISMeF)
- ERCC1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebrooculofacioskeletal Syndrome 4 [NCIt concept]
- cerebrooculofacioskeletal syndrome 4 [MeSH Supplementary Concept]
- cerebrooculofacioskeletal syndrome 4 [MeSH concept]
Validated automatic mappings to NTBT
- COFS syndrome [ORDO Disease]

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