Deafness, congenital heart defects, and posterior embryotoxon

Preferred Label : Deafness, congenital heart defects, and posterior embryotoxon;

Symbol : DCHE;

CISMeF acronym : DCHE;

Type : Phenotype, molecular basis known;

Prefixed ID : #617992;

Details

Origin ID

617992;

UMLS CUI

C1866053;

Automatic exact mappings (from CISMeF team)
- deafness, congenital heart defects, and posterior embryotoxon [MeSH concept]
- deafness, congenital heart defects, and posterior embryotoxon [MeSH Supplementary Concept]
Genes related to phenotype
- Jagged 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Peripheral pulmonary artery stenosis [HPO term]
- Posterior embryotoxon [HPO term]
- Sensorineural hearing impairment [HPO term]
- Tetralogy of Fallot [HPO term]
- Ventricular septal defect [HPO term]
- Vestibular dysfunction [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- deafness, congenital heart defects, and posterior embryotoxon [MeSH concept]
- deafness, congenital heart defects, and posterior embryotoxon [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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