FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term Bamforth-Lazarus syndrome ID (Ontology) DOID:0050655 (Human Disease)
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.
Also Known As "HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 Bamforth-Lazarus syndrome       4
 for disease ribbon | Bamforth-Lazarus syndrome       4
 model of | Bamforth-Lazarus syndrome       4
Spanning Tree (Parents/Children)
Only view relationship: 
  thyroid gland disease
   |__hypothyroidism
       |__Bamforth-Lazarus syndrome  4 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a hypothyroidism
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MIM:241850