| Metadata | |
|---|---|
| ID | DOID:0050693 |
| Name | Brooke-Spiegler syndrome |
| Definition | A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. https://rarediseases.info.nih.gov/diseases/10179/brooke-spiegler-syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:703531009 |
| Subsets |
DO_rare_slim |
| Synonyms |
BRSS [EXACT] BSS [EXACT] CYLD cutaneous syndrome [EXACT] SBS [EXACT] Spiegler-Brooke Syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a skin disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |