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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:congenital symmetric circumferential skin creases 2
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Accession:DOID:0112243 term browser browse the term
Definition:A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in MAPRE2 on chromosome 18q12.1-q12.2. (DO)
Synonyms:exact_synonym: CSCSC2
 primary_id: OMIM:616734
 alt_id: DOID:9008922
For additional species annotation, visit the Alliance of Genome Resources.


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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 17129
    disease of cellular proliferation 6944
      Hamartoma 138
        multiple benign circumferential skin creases on limbs 2
          congenital symmetric circumferential skin creases 2 1
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        Congenital Abnormalities 5557
          Musculoskeletal Abnormalities 2220
            Craniofacial Abnormalities 1945
              Maxillofacial Abnormalities 238
                Jaw Abnormalities 226
                  orofacial cleft 126
                    cleft palate 93
                      multiple benign circumferential skin creases on limbs 2
                        congenital symmetric circumferential skin creases 2 1
paths to the root