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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
 xref: GARD:5003;   MESH:D062685;   MIM:184500;   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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple sebaceous cysts | ClinVar Annotator: match by term: Steatocystoma multiplex		 OMIM
CTD
ClinVar		 PMID:2248894 PMID:9008238 PMID:9767294 PMID:11809119 PMID:11886499 More... NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392 		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:9008238 PMID:9767294 PMID:22336949 PMID:25741868 More... NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    sensory system disease 7336
      skin disease 4312
        sebaceous gland disease 68
          steatocystoma multiplex 1
            Sebocystomatosis 1
            Steatocystoma Multiplex with Natal Teeth 0
Path 2
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      nervous system disease 14349
        Neurologic Manifestations 10433
          sensory system disease 7336
            skin disease 4312
              Genetic Skin Diseases 1881
                ectodermal dysplasia 547
                  pachyonychia congenita 2
                    steatocystoma multiplex 1
                      Sebocystomatosis 1
                      Steatocystoma Multiplex with Natal Teeth 0
paths to the root