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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 3
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Accession:DOID:0110331 term browser browse the term
Definition:A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31. (DO)
Synonyms:exact_synonym: LCA3;   Leber Congenital Amaurosis Type 3;   SPATA7-RELATED CONDITION;   amaurosis congenita of Leber, 3
 narrow_synonym: RP94;   juvenile retinitis pigmentosa, SPATA7-related;   juvenile retinitis pigmentosa, autosomal recessive;   retinitis pigmentosa 94, variable age at onset;   retinitis pigmentosa 94, variable age at onset, autosomal recessive
 broad_synonym: SPATA7-related disorder
 primary_id: MIM:604232
 alt_id: MESH:C536998;   MESH:C565814


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Leber congenital amaurosis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eml5 EMAP like 5 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr 6:123,775,269...123,905,585
Ensembl chr 6:118,046,655...118,175,831 		JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr 6:123,182,636...123,252,024
Ensembl chr 6:117,452,895...117,515,830 		JBrowse link
G Gpr65 G-protein coupled receptor 65 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr 6:123,245,534...123,262,758
Ensembl chr 6:117,515,648...117,536,512 		JBrowse link
G Kcnk10 potassium two pore domain channel subfamily K member 10 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr 6:117,690,052...117,826,120
Ensembl chr 6:117,694,222...117,825,695 		JBrowse link
G Ptpn21 protein tyrosine phosphatase, non-receptor type 21 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr 6:123,662,783...123,727,809
Ensembl chr 6:117,933,066...117,998,095 		JBrowse link
G Spata7 spermatogenesis associated 7 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:604232
ClinVar Annotator: match by term: Leber congenital amaurosis 3 | ClinVar Annotator: match by term: Retinitis pigmentosa 94, variable age at onset | ClinVar Annotator: match by term: SPATA7-related disorder		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19268277 PMID:20104588 More... NCBI chr 6:123,609,519...123,655,001
Ensembl chr 6:117,879,823...117,925,284 		JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr 6:123,927,657...124,025,354
Ensembl chr 6:118,198,201...118,252,418 		JBrowse link
G Zc3h14 zinc finger CCCH type containing 14 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr 6:123,736,120...123,773,775
Ensembl chr 6:118,006,458...118,044,105 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    physical disorder 5206
      Leber congenital amaurosis 135
        Leber congenital amaurosis 3 8
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        Neurologic Manifestations 10463
          sensory system disease 7383
            eye disease 3731
              eye degenerative disease 930
                retinal degeneration 928
                  fundus dystrophy 784
                    retinitis pigmentosa 607
                      Leber congenital amaurosis 3 8
paths to the root