Isolated growth hormone deficiency, type ia

Preferred Label : Isolated growth hormone deficiency, type ia;

Symbol : IGHD1A;

CISMeF acronym : IGHD1A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ighd ia; Sexual ateleiotic dwarfism; Primordial dwarfism; Growth hormone deficiency, isolated, autosomal recessive; Illig-type growth hormone deficiency; Pituitary dwarfism I;

Inheritance : Autosomal recessive;

Prefixed ID : #262400;

Détails

Origin ID

262400;

UMLS CUI

C0342573;

Automatic exact mappings (from CISMeF team)
- Pituitary Dwarfism [NCIt concept]
- Pituitary dwarfism [PASCAL descriptor]
- Primordial dwarfism (disorder) [SNOMED CT concept]
- dwarfism, pituitary [MeSH Descriptor]
- dwarfism, pituitary [MeSH concept]
Broader ORDO disease(s)
- Non-acquired isolated growth hormone deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Ateleiotic dwarfism (disorder) [SNOMED CT concept]
- Isolated growth hormone deficiency type IA [ORDO Disease]
- Pituitary dwarfism 1 [MeSH concept]
- isolated growth hormone deficiency type IA [DO Concept]
- pituitary dwarfism 1 [MeSH Supplementary Concept]
DO Cross reference
- isolated growth hormone deficiency type IA [DO Concept]
Genes related to phenotype
- Growth hormone 1 [OMIM gene]
HPO term(s)
- Abnormality of the face [HPO term]
- Abnormality of the immune system [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Dwarfism [HPO term]
- Hypoglycemia [HPO term]
- Impaired growth-hormone response to insulin stimulation test [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 IA [ORDO Disease]
- Non-acquired isolated growth hormone deficiency [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Ateleiotic dwarfism (disorder) [SNOMED CT concept]
- Ateliotic dwarf (disorder) [Inactive SNOMED CT concept]
- Isolated growth hormone deficiency type IA [ORDO Disease]
- Pituitary dwarfism 1 [MeSH concept]
- ateleiotic dwarfism [SNOMED Notion]
- isolated growth hormone deficiency type IA [DO Concept]
- pituitary dwarfism 1 [MeSH Supplementary Concept]

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