| Metadata | |
|---|---|
| ID | DOID:0060875 |
| Name | isolated growth hormone deficiency type III |
| Definition | An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1. https://www.ncbi.nlm.nih.gov/pubmed/8013627, https://www.ncbi.nlm.nih.gov/pubmed/8288694 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital IGHD type III [EXACT] congenital isolated GH deficiency type III [EXACT] congenital isolated growth hormone deficiency type III [EXACT] Fleisher syndrome [EXACT] growth hormone deficiency with hypogammaglobulinemia [EXACT] IGHD III [EXACT] X-linked agammaglobulinemia and isolated growth hormone deficiency [EXACT] X-linked hypogammaglobulinemia and isolated growth hormone deficiency [EXACT] X-linked IGHD [EXACT] X-linked isolated growth hormone deficiency [EXACT] |
| Parent Relationships |