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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:eyelid benign neoplasm
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Accession:DOID:2173 term browser browse the term
Definition:Tumors of cancer of the EYELIDS.
Synonyms:broad_synonym: eyelid neoplasm;   eyelid neoplasms;   tumor of the eyelid
 primary_id: MESH:D005142
 xref: NCI:C3031
For additional species annotation, visit the Alliance of Genome Resources.



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Nasopalpebral Lipoma Coloboma Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zdbf2 zinc finger, DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome ClinVar PMID:23636874 PMID:27139419 NCBI chr 9:64,672,974...64,748,446
Ensembl chr 9:64,709,880...64,744,265
JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome OMIM
ClinVar
PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More... NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    sensory system disease 6469
      sensory organ benign neoplasm 2
        eyelid benign neoplasm 2
          Nasopalpebral Lipoma Coloboma Syndrome 1
          Schopf-Schulz-Passarge syndrome 1
          malignant eyelid melanoma 0
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        sensory system disease 6469
          skin disease 3754
            Skin Neoplasms 264
              skin benign neoplasm 76
                eyelid benign neoplasm 2
                  Nasopalpebral Lipoma Coloboma Syndrome 1
                  Schopf-Schulz-Passarge syndrome 1
                  malignant eyelid melanoma 0
paths to the root