| 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 | |
| Subsets |
DO_rare_slim |
| 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 |