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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:multiple benign circumferential skin creases on limbs
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Accession:DOID:0112241 term browser browse the term
Definition:A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. (DO)
Synonyms:exact_synonym: CCSF;   CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE;   Congenital Symmetric Circumferential Skin Creases;   Kunze Riehm syndrome;   Michelin Tire Baby Syndrome;   congenital circumferential skin folds;   multiple benign ring-shaped skin creases of limbs
 primary_id: MESH:C537575
 alt_id: DOID:9002281
 xref: OMIM:PS156610;   ORDO:2505
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
congenital symmetric circumferential skin creases 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 OMIM
ClinVar
PMID:12239728 PMID:23324645 PMID:25741868 PMID:26637975 NCBI chr20:3,422,448...3,426,420
Ensembl chr20:3,422,461...3,426,371
JBrowse link
congenital symmetric circumferential skin creases 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapre2 microtubule-associated protein, RP/EB family, member 2 ISO ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 OMIM
ClinVar
PMID:19182162 PMID:21262397 PMID:26637975 NCBI chr18:14,814,149...15,780,290 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    disease of cellular proliferation 6909
      Hamartoma 138
        multiple benign circumferential skin creases on limbs 2
          congenital symmetric circumferential skin creases 1 1
          congenital symmetric circumferential skin creases 2 1
Path 2
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8895
        Congenital Abnormalities 5194
          Musculoskeletal Abnormalities 2135
            Craniofacial Abnormalities 1858
              Maxillofacial Abnormalities 233
                Jaw Abnormalities 221
                  orofacial cleft 124
                    cleft palate 92
                      multiple benign circumferential skin creases on limbs 2
                        congenital symmetric circumferential skin creases 1 1
                        congenital symmetric circumferential skin creases 2 1
paths to the root