Isolated growth hormone deficiency, type ib

Preferred Label : Isolated growth hormone deficiency, type ib;

Symbol : IGHD1B;

CISMeF acronym : IGHD1B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ighd ib;

Description : Patients with IGHD type IB are characterized by low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to GH therapy. See entry 262400 for a summary of the different types of IGHD.;

Prefixed ID : #612781;

Details

Origin ID

612781;

UMLS CUI

C2748571;

Automatic exact mappings (from CISMeF team)
- GH1 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Non-acquired isolated growth hormone deficiency [ORDO Disease]
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 concept]
- isolated growth hormone deficiency, type IB [MeSH Supplementary Concept]
DO Cross reference
- isolated growth hormone deficiency type IB [DO Concept]
Genes related to phenotype
- Growth hormone 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Delayed skeletal maturation [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Isolated growth hormone deficiency type IB [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 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]

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