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Metadata
ID DOID:0050677
Name Bjornstad syndrome
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/
Xrefs

GARD:22

MESH:C537633

OMIM:262000

ORDO:123

SNOMEDCT_US_2019_09_01:67817003

UMLS_CUI:C0266006

Synonyms

BJS [EXACT]

deafness-pili torti-hypogonadism syndrome [EXACT]

PTD [EXACT]

Parent Relationships

is_a syndrome

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