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Leber congenital amaurosis 4 - 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:Leber congenital amaurosis 4
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Accession:DOID:0110332 term browser browse the term
Definition:A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: LCA4;   Leber congenital amaurosis, type 4;   amaurosis congenita of Leber, 4
 broad_synonym: AIPL1-RELATED CONDITION;   AIPL1-related disorders
 related_synonym: CONE-ROD DYSTROPHY, AIPL1-RELATED;   Retinitis pigmentosa, juvenile;   juvenile retinitis pigmentosa, AIPL1-related
 xref: MESH:C536999;   MESH:C565778;   MIM:604393;   MONDO:0011458

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Leber congenital amaurosis 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIPL1 AIP like 1 HSP90 co-chaperone ISO ClinVar Annotator: match by term: AIPL1-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 4 OMIM
ClinVar		 PMID:3257969 PMID:3442652 PMID:9536098 PMID:10615133 PMID:10873396 More... NCBI chr16:5,804,774...5,820,793
Ensembl chr16:5,804,948...5,814,566 		JBrowse link
G CUNH17orf100 chromosome unknown C17orf100 homolog ISO ClinVar Annotator: match by term: Leber congenital amaurosis 4 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr16:6,033,819...6,036,649 JBrowse link
G KIAA0753 KIAA0753 ortholog ISO ClinVar Annotator: match by term: Leber congenital amaurosis 4 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr16:5,952,531...6,016,399
Ensembl chr16:5,953,965...6,010,611 		JBrowse link
G MED31 mediator complex subunit 31 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 4 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr16:6,019,668...6,027,112 JBrowse link
G PIMREG PICALM interacting mitotic regulator ISO ClinVar Annotator: match by term: Leber congenital amaurosis 4 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr16:5,824,323...5,829,908 JBrowse link
G PITPNM3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 4 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr16:5,830,107...5,934,979
Ensembl chr16:5,834,088...5,916,697 		JBrowse link
G SLC13A5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 4 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr16:6,060,445...6,089,867 JBrowse link
G TXNDC17 thioredoxin domain containing 17 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 4 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr16:6,016,273...6,018,500 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15417
    physical disorder 5064
      Leber congenital amaurosis 122
        Leber congenital amaurosis 4 8
Path 2
Term Annotations click to browse term
  disease 15417
    Pathological Conditions, Signs and Symptoms 12064
      Signs and Symptoms 10149
        Neurologic Manifestations 9831
          sensory system disease 6943
            eye disease 3575
              retinal disease 1384
                Leber congenital amaurosis 122
                  Leber congenital amaurosis 4 8
paths to the root