Congenital Nongoitrous Hypothyroidism 5
Disease ID: disease_node_14426
Connections displayed (default: 10).
Loading graph...
| Dbxref | ICD10CM:E03.1, MIM:225250, ORDO:90673 |
|---|---|
| Subclassof | DOID_0050328, DOID_0050736 |
| Data Source | DOID |
| Synonyms | CHNG5 |
| Doid Label | congenital nongoitrous hypothyroidism 5 |
| Doid Description | A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_14426 |
| Doid Id | DOID_0070125 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Nongoitrous Hypothyroidism 5 |
- 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)