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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:Eye Manifestations
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Accession:DOID:9001020 term browser browse the term
Definition:Ocular disorders attendant upon non-ocular disease or injury.
Synonyms:exact_synonym: Eye Manifestation
 primary_id: MESH:D005132


show annotations for term's descendants           Sort by:
Eye Manifestations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APP amyloid beta precursor protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:35247505 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IEP associated with Behcet Syndrome;protein:increased expression:serum (human) RGD PMID:9152064 RGD:8549789 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
brain small vessel disease 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A1 collagen type IV alpha 1 chain IAGP
ISS		 ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies
ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage
ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES | ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage | ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE | ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage | ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT
OMIM:175780		 ClinVar
OMIM
MouseDO		 PMID:906807 PMID:2211826 PMID:3691802 PMID:6428250 PMID:7257746 More... NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G COL4A2 collagen type IV alpha 2 chain IAGP ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage ClinVar PMID:25741868 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G LOC126861856 BRD4-independent group 4 enhancer GRCh37_chr13:110846747-110847946 IAGP ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies
ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage | ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT		 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:110,194,400...110,195,599 JBrowse link
Eye Pain term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:4327920 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
NEUROOCULORENAL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ROBO1 roundabout guidance receptor 1 IAGP ClinVar Annotator: match by term: Neurooculorenal syndrome OMIM
ClinVar		 PMID:25741868 PMID:29194579 PMID:30692597 PMID:35227688 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
retinal arterial tortuosity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A1 collagen type IV alpha 1 chain IAGP ClinVar Annotator: match by term: Retinal arterial tortuosity
ClinVar Annotator: match by term: Retinal arteries, tortuosity of
ClinVar Annotator: match by term: Retinal arterial tortuosity | ClinVar Annotator: match by term: Retinal arteries, tortuosity of		 ClinVar
OMIM		 PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 More... NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP ClinVar Annotator: match by term: Retinal arterial tortuosity ClinVar PMID:25741868 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G LOC126861856 BRD4-independent group 4 enhancer GRCh37_chr13:110846747-110847946 IAGP ClinVar Annotator: match by term: Retinal arteries, tortuosity of ClinVar PMID:25741868 PMID:28492532 NCBI chr13:110,194,400...110,195,599 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 112207
    sensory system disease 22970
      eye disease 8199
        Eye Manifestations 8
          Eye Hemorrhage + 4
          Eye Pain 1
          NEUROOCULORENAL SYNDROME 1
          Susac Syndrome 0
Path 2
Term Annotations click to browse term
  disease 112207
    disease of anatomical entity 104973
      nervous system disease 56427
        Neurologic Manifestations 34032
          sensory system disease 22970
            eye disease 8199
              Eye Manifestations 8
                Eye Hemorrhage + 4
                Eye Pain 1
                NEUROOCULORENAL SYNDROME 1
                Susac Syndrome 0
paths to the root