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Disease Ontology Browser
isolated growth hormone deficiency type IA (DOID:0060873)
Alliance: disease page
Synonyms: autosomal recessive isolated growth hormone deficiency; IGHD IA; Illig-type growth hormone deficiency; pituitary dwarfism I; primordial dwarfism; sexual ateleiotic dwarfism
Alt IDs: OMIM:262400, ICD10CM:E23.0, ORDO:231662
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
The Jackson Laboratory