Cardioacrofacial dysplasia 2

Preferred Label : Cardioacrofacial dysplasia 2;

Symbol : CAFD2;

Type : Phenotype, molecular basis known;

Prefixed ID : #619143;

Origin ID

619143;

UMLS CUI

C5436886;

Genes related to phenotype
- Protein kinase, camp-dependent, catalytic, beta [OMIM gene]
HPO term(s)
- Accessory oral frenulum [HPO term]
- Atrioventricular canal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad forehead [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Clubbing [HPO term]
- Common atrium [HPO term]
- Congenital onset [HPO term]
- Conical tooth [HPO term]
- Deep philtrum [HPO term]
- Genu valgum [HPO term]
- Hypertelorism [HPO term]
- Hypodontia [HPO term]
- Left superior vena cava draining to coronary sinus [HPO term]
- Limb undergrowth [HPO term]
- Long face [HPO term]
- Long thorax [HPO term]
- Mandibular prognathia [HPO term]
- Nail dysplasia [HPO term]
- Narrow chest [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Prominent nasal tip [HPO term]
- Recurrent patellar dislocation [HPO term]
- Short philtrum [HPO term]
- Tented upper lip vermilion [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]