Craniofacial anomalies and anterior segment dysgenesis syndrome

Preferred Label : Craniofacial anomalies and anterior segment dysgenesis syndrome;

Symbol : CAASDS;

CISMeF acronym : CAASDS;

Type : Phenotype, molecular basis known;

Prefixed ID : #614195;

Details

Origin ID

614195;

UMLS CUI

C3280099;

Genes related to phenotype
- Visual system homeobox 1 [OMIM gene]
HPO term(s)
- Abnormal corneal endothelium morphology [HPO term]
- Abnormal electroretinogram [HPO term]
- Abnormality of the outer ear [HPO term]
- Anterior encephalocele [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Ocular anterior segment dysgenesis [HPO term]
- Posterior fossa cyst [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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