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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
 alt_id: RDO:9000512
For additional species annotation, visit the Alliance of Genome Resources.


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Leber congenital amaurosis 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crx cone-rod homeobox ISO DNA:deletions:cds (human)
ClinVar Annotator: match by term: Leber congenital amaurosis 7
ClinVar Annotator: match by OMIM:613829
ClinVar
OMIM
PMID:9427255, PMID:9537410, PMID:9792858, PMID:9931337, PMID:10766140, PMID:11139241, PMID:11748859, PMID:11971869, PMID:12208271, PMID:12359607, PMID:12843339, PMID:15994872, PMID:16123401, PMID:17964524, PMID:18682808, PMID:22960069, PMID:23049240, PMID:23806086, PMID:24088041, PMID:24265693, PMID:24516401, PMID:25259927, PMID:25270190, PMID:25326637, PMID:25741868, PMID:26161267, PMID:26682157, PMID:27624628, PMID:28492532, PMID:28945142, PMID:28966547, PMID:29068479, PMID:30543658, PMID:30557390, PMID:30718709, PMID:31215831, PMID:9537410 RGD:734827 NCBI chr 1:77,744,593...77,758,913
Ensembl chr 1:77,745,288...77,750,960
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 1:76,558,721...76,614,315
Ensembl chr 1:76,252,329...76,780,230
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            Leber congenital amaurosis 7 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            retinal disease 777
              Leber congenital amaurosis 72
                Leber congenital amaurosis 7 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.