Bamforth-Lazarus Syndrome
Disease ID: disease_node_14418
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| Dbxref | MIM:241850 |
|---|---|
| Subclassof | DOID_1459 |
| Data Source | DOID |
| Synonyms | HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE |
| Doid Label | Bamforth-Lazarus syndrome |
| Doid Description | A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_14418 |
| Doid Id | DOID_0050655 |
| Label | Bamforth-Lazarus Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Hypothyroidism(ID:disease_node_4231) (Disease)