Congenital Nongoitrous Hypothyroidism 3
Disease ID: disease_node_14424
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E03.1, MIM:609893 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050328 |
| Data Source | DOID |
| Synonyms | CHNG3 |
| Doid Label | congenital nongoitrous hypothyroidism 3 |
| Doid Description | A congenital hypothyroidism characterized by autosomal domit inheritance of resistance to thyrotropin that has_material_basis_in heterozygous mutation in a thyroid-specific TTTG(4) intergenic noncoding short tandem repeat (STR) on chromosome 15q25.1. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_14424 |
| Doid Id | DOID_0070127 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Nongoitrous Hypothyroidism 3 |
- 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)