Growth hormone deficiency, isolated partial

Preferred Label : Growth hormone deficiency, isolated partial;

Symbol : GHDP;

CISMeF acronym : GHDP;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the growth hormone secretagogue receptor gene (GSHR, 601898.0001);

Prefixed ID : #615925;

Détails

Origin ID

615925;

UMLS CUI

C5887324;

Automatic exact mappings (from CISMeF team)
- short stature, idiopathic, autosomal [MeSH Supplementary Concept]
Genes related to phenotype
- Growth hormone secretagogue receptor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Delayed skeletal maturation [HPO term]
- Postnatal growth retardation [HPO term]
- Short stature [HPO term]
- Small pituitary gland [HPO term]
ORDO concept(s)
- Short stature due to GHSR deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- short stature, idiopathic, autosomal [MeSH concept]
- short stature, idiopathic, autosomal [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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