OBO ID: DOID:0050677 |
Term Name: | Bjornstad syndrome | Search Ontology: | |
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Definition: | A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/ | ||
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Ontology: | Human Disease ( DOID:0050677 ) |
OTHER Bjornstad syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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