Search Ontology:
Human Disease

Bamforth-Lazarus syndrome

Term ID
DOID:0050655
Synonyms
  • HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
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
References
Ontology
Human Disease   ( DOID:0050655 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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