OBO ID: DOID:0050655
Term Name: Bamforth-Lazarus syndrome Search Ontology:
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 Bamforth-Lazarus syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FOXE1 Bamforth-Lazarus syndrome 241850
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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