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sensory organ benign neoplasm - Ontology Report - Rat Genome Database

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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 N Zdbf2 zinc finger DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome ClinVar PMID:23636874 PMID:27139419 NCBI chrNW_004624765:9,806,231...9,837,454 JBrowse link
G G ZDBF2 zinc finger DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome ClinVar PMID:23636874 PMID:27139419 NCBI chr10:92,053,136...92,092,270
Ensembl chr10:92,060,623...92,092,258 		JBrowse link
G P ZDBF2 zinc finger DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome ClinVar PMID:23636874 PMID:27139419 NCBI chr15:109,563,445...109,593,858
Ensembl chr15:109,578,473...109,589,813 		JBrowse link
G S Zdbf2 zinc finger DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome ClinVar PMID:23636874 PMID:27139419 NCBI chrNW_004936631:2,649,792...2,686,430
Ensembl chrNW_004936631:2,648,381...2,686,434 		JBrowse link
G D ZDBF2 zinc finger DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome ClinVar PMID:23636874 PMID:27139419 NCBI chr37:14,867,344...14,897,552
Ensembl chr37:14,871,575...14,894,047 		JBrowse link
G B ZDBF2 zinc finger DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome ClinVar PMID:23636874 PMID:27139419 NCBI chr2B:93,516,875...93,556,652
Ensembl chr2B:211,645,765...211,685,047 		JBrowse link
G C Zdbf2 zinc finger DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome ClinVar PMID:23636874 PMID:27139419 NCBI chrNW_004955457:8,660,448...8,688,116 JBrowse link
G R Zdbf2 zinc finger, DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome ClinVar PMID:23636874 PMID:27139419 NCBI chr 9:72,203,598...72,242,287
Ensembl chr 9:64,709,880...64,744,265 		JBrowse link
G M Zdbf2 zinc finger, DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome ClinVar PMID:23636874 PMID:27139419 NCBI chr 1:63,239,517...63,353,735
Ensembl chr 1:63,312,424...63,353,735 		JBrowse link
G H ZDBF2 zinc finger DBF-type containing 2 IAGP ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome ClinVar PMID:23636874 PMID:27139419 NCBI chr 2:206,274,663...206,314,427
Ensembl chr 2:206,274,663...206,314,427 		JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC129935618 ATAC-STARR-seq lymphoblastoid silent region 12329 IAGP 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 term: Schopf-Schulz-Passarge syndrome		 ClinVar PMID:25741868 NCBI chr 2:218,880,558...218,880,767 JBrowse link
G H LOC129935619 ATAC-STARR-seq lymphoblastoid silent region 12330 IAGP ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome ClinVar PMID:25741868 NCBI chr 2:218,880,788...218,880,927 JBrowse link
G H LOC129935625 ATAC-STARR-seq lymphoblastoid active region 17134 IAGP ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome ClinVar NCBI chr 2:218,893,254...218,893,333 JBrowse link
G N 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 chrNW_004624823:6,126,238...6,140,764
Ensembl chrNW_004624823:6,128,256...6,140,235 		JBrowse link
G 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 chr10:104,781,705...104,795,500
Ensembl chr10:104,782,191...104,794,854 		JBrowse link
G P 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 chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430 		JBrowse link
G S 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 chrNW_004936569:1,309,140...1,321,923
Ensembl chrNW_004936569:1,309,106...1,321,931 		JBrowse link
G D 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 chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764 		JBrowse link
G B 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 chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912 		JBrowse link
G C 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 chrNW_004955453:14,528,373...14,540,801
Ensembl chrNW_004955453:14,528,153...14,540,818 		JBrowse link
G R 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More... NCBI chr 9:83,798,594...83,811,060
Ensembl chr 9:76,349,931...76,362,400 		JBrowse link
G M Wnt10a wingless-type MMTV integration site 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More... NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338 		JBrowse link
G H WNT10A Wnt family member 10A IAGP
EXP		 ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More... NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      sensory organ benign neoplasm 23
        auditory system benign neoplasm + 0
        conjunctival nevus 0
        eyelid benign neoplasm + 23
        hemangioma of orbit 0
        nasal cavity benign neoplasm + 0
        retinal hemangioblastoma 0
Path 2
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Neurologic Manifestations 126178
          sensory system disease 89068
            sensory organ benign neoplasm 23
              auditory system benign neoplasm + 0
              conjunctival nevus 0
              eyelid benign neoplasm + 23
              hemangioma of orbit 0
              nasal cavity benign neoplasm + 0
              retinal hemangioblastoma 0
paths to the root