Isolated Growth Hormone Deficiency Type Iii
Disease ID: disease_node_19696
Connections displayed (default: 10).
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| Dbxref | GARD:3921, ICD10CM:E23.0, MIM:307200, ORDO:231692 |
|---|---|
| Subclassof | DOID_0080012, DOID_0060870 |
| Data Source | DOID |
| Synonyms | Fleisher syndrome, IGHD III, X-linked IGHD, X-linked agammaglobulinemia and isolated growth hormone deficiency, X-linked hypogammaglobulinemia and isolated growth hormone deficiency, X-linked isolated growth hormone deficiency, congenital IGHD type III, congenital isolated GH deficiency type III, congenital isolated growth hormone deficiency type III, growth hormone deficiency with hypogammaglobulinemia |
| Doid Label | isolated growth hormone deficiency type III |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_19696 |
| Doid Id | DOID_0060875 |
| Label | Isolated Growth Hormone Deficiency Type Iii |
- Outgoing r'ship
SUBCLASS_OFto/from Dwarfism, Pituitary(ID:disease_node_2624) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)