OBO ID: DOID:0050655 |
Term Name: | Bamforth-Lazarus syndrome | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0050655 ) |
OTHER Bamforth-Lazarus syndrome PAGES
ZEBRAFISH MODELS
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PHENOTYPE
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CITATIONS (1)
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