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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: GARD:3589;   OMIM:PS156610;   ORDO:2505


show annotations for term's descendants           Sort by:
multiple benign circumferential skin creases on limbs term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB tubulin beta class I ISO ClinVar Annotator: match by term: CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE | ClinVar Annotator: match by term: Kunze Riehm syndrome ClinVar PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More... NCBI chr12:512,738...517,154 JBrowse link
congenital symmetric circumferential skin creases 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB tubulin beta class I ISO ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 | ClinVar Annotator: match by term: TUBB-related condition OMIM
ClinVar		 PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More... NCBI chr12:512,738...517,154 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:25741868 PMID:26637975 PMID:31903734 NCBI chr 7:54,845,121...55,003,372
Ensembl chr 7:54,847,522...55,001,836 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of cellular proliferation 7264
      Hamartoma 227
        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 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        Congenital Abnormalities 7453
          Musculoskeletal Abnormalities 3261
            Craniofacial Abnormalities 2637
              Maxillofacial Abnormalities 307
                Jaw Abnormalities 260
                  orofacial cleft 151
                    cleft palate 114
                      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