Isolated growth hormone deficiency, type II

Preferred Label : Isolated growth hormone deficiency, type II;

Symbol : IGHD2;

CISMeF acronym : IGHD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ighd II; Pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant; Growth hormone deficiency, isolated, autosomal dominant;

Inheritance : Autosomal dominant form;

Prefixed ID : #173100;

Détails

Origin ID

173100;

UMLS CUI

C0271567;

Automatic exact mappings (from CISMeF team)
- Isolated growth hormone deficiency - autosomal dominant (disorder) [SNOMED CT concept]
Broader ORDO disease(s)
- Non-acquired isolated growth hormone deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Isolated growth hormone deficiency type II [ORDO Disease]
- isolated growth hormone deficiency type II [DO Concept]
- isolated growth hormone deficiency, type II [MeSH concept]
- isolated growth hormone deficiency, type II [MeSH Supplementary Concept]
DO Cross reference
- isolated growth hormone deficiency type II [DO Concept]
Genes related to phenotype
- Growth hormone 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Dwarfism [HPO term]
- Isolated growth hormone deficiency [HPO term]
- Pituitary dwarfism [HPO term]
- Severe short stature [HPO term]
ORDO concept(s)
- Isolated growth hormone deficiency type II [ORDO Disease]
- Non-acquired isolated growth hormone deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Isolated growth hormone deficiency - autosomal dominant (disorder) [SNOMED CT concept]
- Isolated growth hormone deficiency type II [ORDO Disease]
- autosomal dominant isolated somatotropin deficiency [SNOMED Notion]
- isolated growth hormone deficiency type II [DO Concept]
- isolated growth hormone deficiency, type II [MeSH Supplementary Concept]
- isolated growth hormone deficiency, type II [MeSH concept]

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