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DO Term : Birt-Hogg-Dube syndrome [DOID:0050676] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11.
  • synonyms:
  • GARD:2322,
  • OMIM:135150,
  • 135150,
  • MESH:D058249
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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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