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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:Leber congenital amaurosis 7
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Accession:DOID:0110333 term browser browse the term
Definition:A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: LCA7
 primary_id: OMIM:613829
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Leber congenital amaurosis 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsph1 binder of sperm protein homolog 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 ClinVar PMID:28492532 NCBI chr 1:74,413,976...74,450,117
Ensembl chr 1:74,411,200...74,450,120 		JBrowse link
G Cabp5 calcium binding protein 5 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 ClinVar PMID:28492532 NCBI chr 1:74,350,811...74,363,830
Ensembl chr 1:74,350,811...74,363,830 		JBrowse link
G Crx cone-rod homeobox ISO DNA:deletions:cds (human)
ClinVar Annotator: match by term: Leber congenital amaurosis 7		 OMIM
ClinVar
RGD		 PMID:9390563 PMID:9427255 PMID:9537410 PMID:9792858 PMID:9931337 More... RGD:734827 NCBI chr 1:76,540,141...76,545,818
Ensembl chr 1:76,540,141...76,545,818 		JBrowse link
G Lig1 DNA ligase 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 ClinVar PMID:28492532 NCBI chr 1:74,165,688...74,204,400
Ensembl chr 1:74,165,842...74,204,413 		JBrowse link
G Nlrp1b NLR family, pyrin domain containing 1B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 ClinVar PMID:28492532 NCBI chr10:55,838,381...55,904,374
Ensembl chr10:55,843,001...55,912,774 		JBrowse link
G Pla2g4c phospholipase A2 group IVC ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 ClinVar PMID:28492532 NCBI chr 1:74,249,688...74,272,133
Ensembl chr 1:74,236,211...74,274,656 		JBrowse link
G Sult2a1 sulfotransferase family 2A member 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 ClinVar PMID:28492532 PMID:30557390 NCBI chr 1:75,451,178...75,508,142
Ensembl chr 1:74,911,100...75,508,134 		JBrowse link
G Zswim9 zinc finger SWIM-type containing 9 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 ClinVar PMID:28492532 NCBI chr 1:74,144,818...74,165,804
Ensembl chr 1:74,144,814...74,166,009 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18203
    physical disorder 4334
      Leber congenital amaurosis 114
        Leber congenital amaurosis 7 8
Path 2
Term Annotations click to browse term
  disease 18203
    Pathological Conditions, Signs and Symptoms 12569
      Signs and Symptoms 10031
        Neurologic Manifestations 9248
          sensory system disease 6476
            eye disease 2893
              retinal disease 889
                Leber congenital amaurosis 114
                  Leber congenital amaurosis 7 8
paths to the root