Pituitary hormone deficiency, combined, 6

Preferred Label : Pituitary hormone deficiency, combined, 6;

Symbol : CPHD6;

CISMeF acronym : CPHD6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of the drosophila orthodenticle 2 gene (OTX2, 600038.0006);

Prefixed ID : #613986;

Details

Origin ID

613986;

UMLS CUI

C3151440;

Automatic exact mappings (from CISMeF team)
- Combined pituitary hormone deficiencies, genetic forms [ORDO Disease]
- OTX2 wt Allele [NCIt concept]
DO Cross reference
- hypopituitarism [DO Concept]
Genes related to phenotype
- Orthodenticle homeobox 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Ectopic posterior pituitary [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Combined pituitary hormone deficiencies, genetic forms [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients