Congenital Nongoitrous Hypothyroidism 4
Disease ID: disease_node_14428
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E03.1, MIM:275100 |
|---|---|
| Subclassof | DOID_0050328, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CHNG4, isolated thyrotropin deficiency |
| Doid Label | congenital nongoitrous hypothyroidism 4 |
| Doid Description | A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14428 |
| Doid Id | DOID_0070123 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Nongoitrous Hypothyroidism 4 |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Hypothyroidism(ID:disease_node_2303) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)