Congenital Nongoitrous Hypothyroidism 2
Disease ID: disease_node_14427
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E03.1, MIM:218700 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050328 |
| Data Source | DOID |
| Synonyms | CHNG2, congenital hypothyroidism due to thyroid dysgenesis or hypoplasia |
| Doid Label | congenital nongoitrous hypothyroidism 2 |
| Doid Description | A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_14427 |
| Doid Id | DOID_0070124 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Nongoitrous Hypothyroidism 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Hypothyroidism(ID:disease_node_2303) (Disease)