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Metadata
ID DOID:0060874
Name isolated growth hormone deficiency type IB
Definition An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.
https://www.ncbi.nlm.nih.gov/pubmed/10678654, https://www.ncbi.nlm.nih.gov/pubmed/8288694, https://www.ncbi.nlm.nih.gov/pubmed/8528260
Xrefs

ICD10CM:E23.0

OMIM:612781

ORDO:231671

Synonyms

congenital IGHD type IB [EXACT]

congenital isolated GH deficiency type IB [EXACT]

congenital isolated growth hormone deficiency type IB [EXACT]

dwarfism of Sindh [EXACT]

IGHD IB [EXACT]

Parent Relationships

is_a isolated growth hormone deficiency

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