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cone-rod dystrophy 10 - 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:cone-rod dystrophy 10
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Accession:DOID:0111017 term browser browse the term
Definition:A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22. (DO)
Synonyms:exact_synonym: CORD10
 broad_synonym: SEMA4A-RELATED CONDITION
 primary_id: MESH:C564597
 alt_id: MIM:610283

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cone-rod dystrophy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Cone-rod dystrophy 10 | ClinVar Annotator: match by term: SEMA4A-related condition OMIM
ClinVar		 PMID:16199541 PMID:20981092 PMID:22956603 PMID:23360997 PMID:24033266 More... NCBI chrNW_004624885:1,470,666...1,493,634
Ensembl chrNW_004624885:1,470,525...1,495,369 		JBrowse link
G G SEMA4A semaphorin 4A ISO ClinVar Annotator: match by term: Cone-rod dystrophy 10 | ClinVar Annotator: match by term: SEMA4A-related condition OMIM
ClinVar		 PMID:16199541 PMID:20981092 PMID:22956603 PMID:23360997 PMID:24033266 More... NCBI chr20:7,684,107...7,716,866
Ensembl chr20:7,683,994...7,708,741 		JBrowse link
G P SEMA4A semaphorin 4A ISO ClinVar Annotator: match by term: Cone-rod dystrophy 10 | ClinVar Annotator: match by term: SEMA4A-related condition OMIM
ClinVar		 PMID:16199541 PMID:20981092 PMID:22956603 PMID:23360997 PMID:24033266 More... NCBI chr 4:93,865,054...93,892,995
Ensembl chr 4:93,865,057...93,886,371 		JBrowse link
G S Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Cone-rod dystrophy 10 | ClinVar Annotator: match by term: SEMA4A-related condition OMIM
ClinVar		 PMID:16199541 PMID:20981092 PMID:22956603 PMID:23360997 PMID:24033266 More... NCBI chrNW_004936580:5,404,380...5,431,183
Ensembl chrNW_004936580:5,406,194...5,431,185 		JBrowse link
G D SEMA4A semaphorin 4A ISO ClinVar Annotator: match by term: Cone-rod dystrophy 10 | ClinVar Annotator: match by term: SEMA4A-related condition OMIM
ClinVar		 PMID:16199541 PMID:20981092 PMID:22956603 PMID:23360997 PMID:24033266 More... NCBI chr 7:41,670,814...41,695,349
Ensembl chr 7:41,672,120...41,692,460 		JBrowse link
G B SEMA4A semaphorin 4A ISO ClinVar Annotator: match by term: Cone-rod dystrophy 10 | ClinVar Annotator: match by term: SEMA4A-related condition OMIM
ClinVar		 PMID:16199541 PMID:20981092 PMID:22956603 PMID:23360997 PMID:24033266 More... NCBI chr 1:131,489,446...131,519,864
Ensembl chr 1:135,321,288...135,350,724 		JBrowse link
G C Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Cone-rod dystrophy 10 | ClinVar Annotator: match by term: SEMA4A-related condition OMIM
ClinVar		 PMID:16199541 PMID:20981092 PMID:22956603 PMID:23360997 PMID:24033266 More... NCBI chrNW_004955545:2,316,402...2,341,873
Ensembl chrNW_004955545:2,316,390...2,342,233 		JBrowse link
G R Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Cone-rod dystrophy 10 | ClinVar Annotator: match by term: SEMA4A-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199541 PMID:20981092 PMID:22956603 PMID:23360997 PMID:24033266 More... NCBI chr 2:176,194,248...176,215,752
Ensembl chr 2:173,896,439...173,914,442 		JBrowse link
G M Sema4a sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A ISO ClinVar Annotator: match by term: Cone-rod dystrophy 10 | ClinVar Annotator: match by term: SEMA4A-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199541 PMID:20981092 PMID:22956603 PMID:23360997 PMID:24033266 More... NCBI chr 3:88,343,266...88,368,500
Ensembl chr 3:88,343,266...88,368,489 		JBrowse link
G H SEMA4A semaphorin 4A IAGP
EXP		 ClinVar Annotator: match by term: Cone-rod dystrophy 10
ClinVar Annotator: match by term: Cone-rod dystrophy 10 | ClinVar Annotator: match by term: SEMA4A-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199541 PMID:20981092 PMID:22956603 PMID:23360997 PMID:24033266 More... NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      eye disease 42489
        fundus dystrophy 8066
          retinitis pigmentosa 6267
            cone-rod dystrophy 10 10
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
            eye disease 42489
              retinal disease 15895
                retinal degeneration 9924
                  fundus dystrophy 8066
                    cone-rod dystrophy 1176
                      cone-rod dystrophy 10 10
paths to the root