Isolated Growth Hormone Deficiency Type Ia
Disease ID: disease_node_19698
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| Dbxref | ICD10CM:E23.0, MIM:262400, ORDO:231662 |
|---|---|
| Subclassof | DOID_0060870 |
| Data Source | DOID |
| Synonyms | IGHD IA, Illig-type growth hormone deficiency, autosomal recessive isolated growth hormone deficiency, pituitary dwarfism I, primordial dwarfism, sexual ateleiotic dwarfism |
| Doid Label | isolated growth hormone deficiency type IA |
| Doid Description | An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3. |
| Disease Node Id | disease_node_19698 |
| Doid Id | DOID_0060873 |
| Label | Isolated Growth Hormone Deficiency Type Ia |
- Outgoing r'ship
SUBCLASS_OFto/from Dwarfism, Pituitary(ID:disease_node_2624) (Disease)