WormBase Tree Display for DO_term: DOID:0050676
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| DOID:0050676 | Name | Birt-Hogg-Dube syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Parent | Is_a | DOID:37 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 135150 | |
| Disease_model_annotation | WBDOannot00000382 | ||||
| Attribute_of | Gene_by_biology | WBGene00017699 | |||
| Gene_by_orthology | WBGene00017699 |
