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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:sensory organ benign neoplasm
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Accession:DOID:0060096 term browser browse the term
Definition:A nervous system benign neoplasm that is located_in a sensory organ. (DO)
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 18133
    sensory system disease 6388
      sensory organ benign neoplasm 2
        auditory system benign neoplasm + 0
        conjunctival nevus 0
        eyelid benign neoplasm + 2
        hemangioma of orbit 0
        nasal cavity benign neoplasm + 0
        retinal hemangioblastoma 0
Path 2
Term Annotations click to browse term
  disease 18133
    disease of cellular proliferation 7304
      benign neoplasm 2062
        organ system benign neoplasm 1155
          nervous system benign neoplasm 718
            sensory organ benign neoplasm 2
              auditory system benign neoplasm + 0
              conjunctival nevus 0
              eyelid benign neoplasm + 2
              hemangioma of orbit 0
              nasal cavity benign neoplasm + 0
              retinal hemangioblastoma 0
paths to the root