Terminology Service for NFDI4Health

Bjornstad syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0050677


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. [ http://purl.obolibrary.org/obo/ECO_0007636 ]

Term info

Label

Bjornstad syndrome

Synonyms
  • BJS
  • PTD
  • deafness-pili torti-hypogonadism syndrome
database cross reference
comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050677