| Metadata | |
|---|---|
| ID | DOID:0050655 |
| Name | Bamforth-Lazarus syndrome |
| Definition | 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. https://rarediseases.info.nih.gov/diseases/414/bamforth-syndrome |
| Xrefs | |
| Synonyms |
HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE [EXACT] |
| Parent Relationships |
is_a hypothyroidism |