Congenital Nongoitrous Hypothyroidism 9
Disease ID: disease_node_14422
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| Dbxref | MIM:301035 |
|---|---|
| Subclassof | DOID_0050328, DOID_0080012 |
| Data Source | DOID |
| Synonyms | CHNG9 |
| Doid Label | congenital nongoitrous hypothyroidism 9 |
| Doid Description | A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_14422 |
| Doid Id | DOID_0111835 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Nongoitrous Hypothyroidism 9 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Hypothyroidism(ID:disease_node_2303) (Disease)