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DO Term : Bjornstad syndrome [DOID:0050677] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • MESH:C537633,
  • PTD,
  • ORDO:123,
  • 262000,
  • UMLS_CUI:C0266006,
  • SNOMEDCT_US_2023_03_01:67817003,
  • BJS,
  • OMIM:262000,
  • GARD:22,
  • deafness-pili torti-hypogonadism syndrome
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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