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RGD uses the Human Disease Ontology (DO, 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
 narrow_synonym: CONE-ROD DYSTROPHY, AIPL1-RELATED;   juvenile retinitis pigmentosa, AIPL1-related
 broad_synonym: AIPL1-related disorders
 primary_id: MESH:C536999;   MESH:C565778
 alt_id: OMIM:604393
For additional species annotation, visit the Alliance of Genome Resources.

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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 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by OMIM:604393
ClinVar Annotator: match by synonym: CONE-ROD DYSTROPHY, AIPL1-RELATED
ClinVar Annotator: match by term: Leber congenital amaurosis 4
PMID:9536098 PMID:10615133 PMID:10873396 PMID:10927016 PMID:11139241 PMID:12881340 PMID:14555765 PMID:14611946 PMID:15024725 PMID:15249368 PMID:15347646 PMID:15469903 PMID:16052170 PMID:16123401 PMID:16205573 PMID:17576681 PMID:17964524 PMID:18055820 PMID:18408180 PMID:18682808 PMID:20683928 PMID:20702822 PMID:21153841 PMID:21474771 PMID:21900377 PMID:22347407 PMID:22412862 PMID:23737531 PMID:24093488 PMID:24426771 PMID:25148430 PMID:25596619 PMID:25741868 PMID:25799540 PMID:26306921 PMID:26650897 PMID:27268253 PMID:28041643 PMID:28492532 PMID:28973376 PMID:29178642 PMID:29641573 PMID:30576320 PMID:30718709 NCBI chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      Leber congenital amaurosis 86
        Leber congenital amaurosis 4 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal recessive disease 3224
                Leber congenital amaurosis 4 1
paths to the root