Cohen-gibson syndrome

Preferred Label : Cohen-gibson syndrome;

Symbol : COGIS;

CISMeF acronym : COGIS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of the mouse embryonic ectoderm development protein gene (EED, 605984.0001);

Prefixed ID : #617561;

Details

Origin ID

617561;

UMLS CUI

C4479654;

Genes related to phenotype
- Embryonic ectoderm development [OMIM gene]
HPO term(s)
- Accelerated skeletal maturation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Broad thumb [HPO term]
- Camptodactyly [HPO term]
- Cataract [HPO term]
- Chin with horizontal crease [HPO term]
- Congenital onset [HPO term]
- Coxa valga [HPO term]
- Cryptorchidism [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Flared metaphysis [HPO term]
- Flexion contracture [HPO term]
- Gait disturbance [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic iliac wing [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Large hands [HPO term]
- Long ear [HPO term]
- Long fingers [HPO term]
- Long foot [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Macrotia [HPO term]
- Melanocytic nevus [HPO term]
- Myopia [HPO term]
- Osteopenia [HPO term]
- Overgrowth [HPO term]
- Patent ductus arteriosus [HPO term]
- Poor coordination [HPO term]
- Ptosis [HPO term]
- Retrognathia [HPO term]
- Round face [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Small nail [HPO term]
- Tall stature [HPO term]
- Thin nail [HPO term]
- Umbilical hernia [HPO term]
- Wide intermamillary distance [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Weaver syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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