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isolated growth hormone deficiency type II (DOID:0060872)
Synonyms: autosomal dominant isolated growth hormone deficiency; autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency; congenital IGHD type II; congenital isolated GH deficiency type II; congenital isolated growth hormone deficiency type II; IGHD II
Alt IDs: OMIM:173100, ICD10CM:E23.0, ORDO:231679
Definition: An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has material_basis_in dominant negative 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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last database update
03/21/2017
MGI 6.08
The Jackson Laboratory