Growth hormone insensitivity, partial

Preferred Label : Growth hormone insensitivity, partial;

Symbol : GHIP;

CISMeF acronym : GHIP;

Type : Phenotype, molecular basis known;

Included titles and symbols : Increased responsiveness to growth hormone;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the growth hormone receptor gene (GHR, 600946.0006);

Laboratory abnormalities : Low serum concentration of GH-binding protein; Below 0 serum IGF1;

Prefixed ID : #604271;

Details

Origin ID

604271;

UMLS CUI

C1858656;

Automatic exact mappings (from CISMeF team)
- Short stature due to GHSR deficiency [ORDO Disease]
- Short stature due to partial GHR deficiency [ORDO Disease]
Broader ORDO disease(s)
- Idiopathic short stature [ORDO Disease]
Currated CISMeF NLP mapping
- short stature, idiopathic, autosomal [MeSH concept]
- short stature, idiopathic, autosomal [MeSH Supplementary Concept]
Genes related to phenotype
- Growth hormone receptor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Short stature due to partial GHR deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- short stature, idiopathic, autosomal [MeSH Supplementary Concept]
- short stature, idiopathic, autosomal [MeSH concept]

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