Cardioacrofacial dysplasia 1 - CISMeF

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CISMeF

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Cardioacrofacial dysplasia 1OMIM Phenotype

Preferred Label : Cardioacrofacial dysplasia 1;

Symbol : CAFD1;

Type : Phenotype, molecular basis known;

Prefixed ID : #619142;

Details

Origin ID

619142;

UMLS CUI

C5436885;

Genes related to phenotype
- Protein kinase, camp-dependent, catalytic, alpha [OMIM gene]
HPO term(s)
- Accessory oral frenulum [HPO term]
- Atrioventricular canal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Complete atrioventricular canal defect [HPO term]
- Congenital onset [HPO term]
- Conical tooth [HPO term]
- Diastema [HPO term]
- Genu valgum [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Limb undergrowth [HPO term]
- Long face [HPO term]
- Long thorax [HPO term]
- Midface retrusion [HPO term]
- Nail dysplasia [HPO term]
- Overhanging nasal tip [HPO term]
- Postaxial polydactyly [HPO term]
- Short philtrum [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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13/07/2025

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