Preferred Name |
Birt-Hogg-Dube syndrome |
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Synonyms |
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Definitions |
OMIM mapping confirmed by DO. [SN]. 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. |
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ID |
http://purl.obolibrary.org/obo/DOID_0050676 |
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comment |
OMIM mapping confirmed by DO. [SN]. |
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database_cross_reference |
MESH:D058249 OMIM:135150 GARD:2322 |
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definition |
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. |
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has material basis in | ||
has_obo_namespace |
disease_ontology |
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id |
DOID:0050676 |
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in_subset | ||
label |
Birt-Hogg-Dube syndrome |
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notation |
DOID:0050676 |
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prefLabel |
Birt-Hogg-Dube syndrome |
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subClassOf |
Create mapping