Metadata | |
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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 |