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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:steatocystoma multiplex
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Accession:DOID:0111556 term browser browse the term
Definition:A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in the KRT17 gene on chromosome 17q21.2. (DO)
Synonyms:exact_synonym: Multiple Sebaceous Cyst;   Multiple Sebaceous Cysts;   Multiplex Steatocystomas;   Steatocystoma Multiplices
 primary_id: MESH:D062685
 alt_id: OMIM:184500
 xref: GARD:5003;   ORDO:841


show annotations for term's descendants           Sort by:
steatocystoma multiplex term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT17 keratin 17 ISO ClinVar Annotator: match by term: Multiple sebaceous cysts | ClinVar Annotator: match by term: Steatocystoma multiplex OMIM
ClinVar		 PMID:2248894 PMID:7529318 PMID:9008238 PMID:9767294 PMID:11886499 More... NCBI chr 9:21,155,007...21,161,407
Ensembl chr 9:21,156,045...21,265,564 		JBrowse link
Sebocystomatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT17 keratin 17 ISO ClinVar Annotator: match by term: Sebocystomatosis ClinVar PMID:2248894 PMID:7529318 PMID:9008238 PMID:9767294 PMID:22336949 More... NCBI chr 9:21,155,007...21,161,407
Ensembl chr 9:21,156,045...21,265,564 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    sensory system disease 6589
      skin disease 3751
        sebaceous gland disease 23
          steatocystoma multiplex 1
            Sebocystomatosis 1
            Steatocystoma Multiplex with Natal Teeth 0
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        Neurologic Manifestations 9572
          sensory system disease 6589
            skin disease 3751
              Genetic Skin Diseases 1818
                ectodermal dysplasia 535
                  pachyonychia congenita 2
                    steatocystoma multiplex 1
                      Sebocystomatosis 1
                      Steatocystoma Multiplex with Natal Teeth 0
paths to the root