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Bamforth-Lazarus syndrome

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


Explore Associated Targets
Mondo Description Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.
Uniprot Description A disease characterized by thyroid agenesis, cleft palate and choanal atresia.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0009437:  Bamforth-Lazarus syndrome
GARD:0000414: 
MESH:C537901: 
Orphanet:1226: 
SCTID:722375007: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)