|
General Information
|
| Term |
Birt-Hogg-Dube syndrome |
ID (Ontology) |
DOID:0050676 (Human Disease) |
| 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 |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
| Data Class | Field | Records |
|---|
|
| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 2 | | Human Disease Models (FBhh) | DOID | 1 |
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Alleles | Genes | Human Disease Models |
|---|
Birt-Hogg-Dube syndrome | 2 | 2 | 1 | ameliorates | Birt-Hogg-Dube syndrome | 1 | -- | -- | for disease ribbon | Birt-Hogg-Dube syndrome | -- | 1 | -- | model of | Birt-Hogg-Dube syndrome | 1 | 1 | -- |
|
Relationships