Congenital heart defects and ectodermal dysplasia

Preferred Label : Congenital heart defects and ectodermal dysplasia;

Symbol : CHDED;

CISMeF acronym : CHDED;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein kinase D1 gene (PRKD1, 605435.0002);

Prefixed ID : #617364;

Details

Origin ID

617364;

UMLS CUI

C4479250;

Genes related to phenotype
- Protein kinase d1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Broad thumb [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Dry skin [HPO term]
- Feeding difficulties [HPO term]
- Fragile nails [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Microcephaly [HPO term]
- Microdontia [HPO term]
- Nystagmus [HPO term]
- Premature loss of primary teeth [HPO term]
- Prominent forehead [HPO term]
- Prominent nasal bridge [HPO term]
- Scoliosis [HPO term]
- Sparse scalp hair [HPO term]
- Syndactyly [HPO term]
- Thin skin [HPO term]
- Widely spaced teeth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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