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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 disorder characterized by multiple, wide spread cutaneous cysts that often become inflamed and rupture. It is caused by the same mutations in the gene coding for KRT-17 that are causative mutations for Pachyonychia congenita, Type 2. Natal teeth involvement is sometimes associated with steatocystoma multiplex.
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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:184500 OMIM
ClinVar
PMID:9008238, PMID:9767294, PMID:11886499 NCBI chr10:88,158,993...88,163,712
Ensembl chr10:88,118,001...88,163,723
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      skin disease 2765
        sebaceous gland disease 22
          steatocystoma multiplex 1
            Sebocystomatosis 0
            Steatocystoma Multiplex with Natal Teeth 0
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          skin disease 2765
            Skin Abnormalities 659
              ectodermal dysplasia 250
                pachyonychia congenita 2
                  steatocystoma multiplex 1
                    Sebocystomatosis 0
                    Steatocystoma Multiplex with Natal Teeth 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.