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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 9:70,052,088...70,090,847
Ensembl chr 9:70,059,683...70,089,778
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: Schopf-Schulz-Passarge syndrome
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS
ClinVar Annotator: match by OMIM:224750
OMIM
ClinVar
PMID:17847007, PMID:19559398, PMID:20163410, PMID:21484994, PMID:21834823, PMID:22581971, PMID:23167694, PMID:23401279, PMID:24033266, PMID:24043634, PMID:24311251, PMID:24312213, PMID:24398796, PMID:24449199, PMID:24700731, PMID:24702986, PMID:24902757, PMID:25356970, PMID:25545742, PMID:25629078, PMID:25741868, PMID:28105635, PMID:28492532, PMID:30426266 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      sensory organ benign neoplasm 2
        auditory system benign neoplasm + 0
        conjunctival nevus 0
        eyelid benign neoplasm + 2
        hemangioma of orbit 0
        retinal hemangioblastoma 0
Path 2
Term Annotations click to browse term
  disease 16058
    disease of cellular proliferation 5918
      benign neoplasm 962
        organ system benign neoplasm 453
          nervous system benign neoplasm 92
            sensory organ benign neoplasm 2
              auditory system benign neoplasm + 0
              conjunctival nevus 0
              eyelid benign neoplasm + 2
              hemangioma of orbit 0
              retinal hemangioblastoma 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.