Isolated growth hormone deficiency, type iv

Preferred Label : Isolated growth hormone deficiency, type iv;

Symbol : IGHD4;

CISMeF acronym : IGHD4; IGHD1B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Isolated growth hormone deficiency, type ib; Dwarfism of sindh; IGHD1B;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the growth hormone releasing hormone receptor gene (GHRHR, 139191.0001);

Prefixed ID : #618157;

Détails

Origin ID

618157;

UMLS CUI

C4722273;

Currated CISMeF NLP mapping
- Isolated growth hormone deficiency type IB [ORDO Disease]
- isolated growth hormone deficiency type IB [DO Concept]
- isolated growth hormone deficiency, type IB [MeSH Supplementary Concept]
- isolated growth hormone deficiency, type IB [MeSH concept]
Genes related to phenotype
- Growth hormone-releasing hormone receptor [OMIM gene]
HPO term(s)
- Anterior pituitary hypoplasia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Decreased serum insulin-like growth factor 1 [HPO term]
- Delayed skeletal maturation [HPO term]
- Impaired growth-hormone response to insulin stimulation test [HPO term]
- Severe short stature [HPO term]
ORDO concept(s)
- Isolated growth hormone deficiency type IB [ORDO Disease]
See also inter- (CISMeF)
- GH1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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