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RGD uses the Human Disease Ontology (DO, 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:Familial Cutaneous Collagenoma
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Accession:DOID:9006066 term browser browse the term
Synonyms:primary_id: MESH:C562925
 alt_id: OMIM:115250
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
Familial Cutaneous Collagenoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd3 LEM domain containing 3 ISO DNA:transition mutation:intron: 1522+1G>A(human) RGD PMID:17223882 RGD:11553841 NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of cellular proliferation 7054
      Hereditary Neoplastic Syndromes 931
        Familial Cutaneous Collagenoma 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          skin disease 2993
            Skin Neoplasms 251
              Familial Cutaneous Collagenoma 1
paths to the root