Visualize
Metadata
DOID DOID:0060872
Name isolated growth hormone deficiency type II
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.
https://www.ncbi.nlm.nih.gov/pubmed/15671105, https://www.ncbi.nlm.nih.gov/pubmed/8288694
Synonyms

autosomal dominant isolated growth hormone deficiency [EXACT]

autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency [EXACT]

congenital IGHD type II [EXACT]

congenital isolated GH deficiency type II [EXACT]

congenital isolated growth hormone deficiency type II [EXACT]

IGHD II [EXACT]

Xrefs

ICD10CM:E23.0

OMIM:173100

ORDO:231679

Relationships

is_a isolated growth hormone deficiency

Add an item to the term tracker