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Metadata
ID DOID:0060873
Name isolated growth hormone deficiency type IA
Definition An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material_basis_in null mutations in the GH1 gene on chromosome 17q23.3.
https://www.ncbi.nlm.nih.gov/pubmed/16060904, https://www.ncbi.nlm.nih.gov/pubmed/8288694
Xrefs

ICD10CM:E23.0

OMIM:262400

ORDO:231662

Synonyms

autosomal recessive isolated growth hormone deficiency [EXACT]

IGHD IA [EXACT]

Illig-type growth hormone deficiency [EXACT]

pituitary dwarfism I [EXACT]

primordial dwarfism [EXACT]

sexual ateleiotic dwarfism [EXACT]

Parent Relationships

is_a isolated growth hormone deficiency

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