Isolated Growth Hormone Deficiency Type Ib
Disease ID: disease_node_19697
Connections displayed (default: 10).
Loading graph...
| Dbxref | ICD10CM:E23.0, MIM:612781, MIM:618157, ORDO:231671 |
|---|---|
| Subclassof | DOID_0060870 |
| Data Source | DOID |
| Synonyms | IGHD IB, congenital IGHD type IB, congenital isolated GH deficiency type IB, congenital isolated growth hormone deficiency type IB, dwarfism of Sindh |
| Doid Label | isolated growth hormone deficiency type IB |
| Doid Description | 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. |
| Disease Node Id | disease_node_19697 |
| Doid Id | DOID_0060874 |
| Label | Isolated Growth Hormone Deficiency Type Ib |
- Outgoing r'ship
SUBCLASS_OFto/from Dwarfism, Pituitary(ID:disease_node_2624) (Disease)