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DO Term : Brooke-Spiegler syndrome [DOID:0050693] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
ORDO:79493,
BSS,
OMIM:605041,
Spiegler-Brooke Syndrome,
BRSS,
605041,
UMLS_CUI:C1857941,
GARD:10179,
SNOMEDCT_US_2023_03_01:703531009,
CYLD cutaneous syndrome,
SBS

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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