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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)


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome		 OMIM
CTD
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 19100
    sensory system disease 7329
      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 19100
    Pathological Conditions, Signs and Symptoms 13604
      Signs and Symptoms 11183
        Neurologic Manifestations 10419
          sensory system disease 7329
            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