Congenital Nongoitrous Hypothyroidism 8
Disease ID: disease_node_14420
Connections displayed (default: 10).
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| Dbxref | MIM:301033 |
|---|---|
| Subclassof | DOID_0050328, DOID_0050736 |
| Data Source | DOID |
| Synonyms | CHNG8 |
| Doid Label | congenital nongoitrous hypothyroidism 8 |
| Doid Description | A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_14420 |
| Doid Id | DOID_0111837 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Nongoitrous Hypothyroidism 8 |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Hypothyroidism(ID:disease_node_2303) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)