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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:cataract 9 multiple types
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Accession:DOID:0110266 term browser browse the term
Definition:A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22. (DO)
Synonyms:exact_synonym: CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1;   CATC1;   CTRCT9;   Cataract 9, multiple types, with or without microcornea
 narrow_synonym: CATARACT 9, AUTOSOMAL RECESSIVE;   Cataract, Autosomal Dominant;   Cataract, autosomal dominant, multiple types, with microcornea
 primary_id: MESH:C565815
 alt_id: OMIM:604219
For additional species annotation, visit the Alliance of Genome Resources.


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cataract 9 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: Cataract, autosomal dominant, multiple types, with microcornea
ClinVar Annotator: match by OMIM:604219
ClinVar Annotator: match by term: Cataract 9, autosomal recessive
OMIM
ClinVar
PMID:9467006 PMID:10684623 PMID:11006246 PMID:11123904 PMID:12601044 PMID:14512969 PMID:16564818 PMID:16735993 PMID:16862070 PMID:17296897 PMID:17724170 PMID:17937925 PMID:18085469 PMID:18302245 PMID:18587492 PMID:19182255 PMID:19503744 PMID:20079887 PMID:21042563 PMID:22045060 PMID:22140512 PMID:22216983 PMID:22347476 PMID:23255486 PMID:23379525 PMID:23508780 PMID:25018622 PMID:25694240 PMID:25741868 PMID:26542570 PMID:26694549 PMID:27307692 PMID:28179137 PMID:28492532 NCBI chr20:10,438,444...10,442,189
Ensembl chr20:10,438,444...10,442,187
JBrowse link
G Pitx3 paired-like homeodomain 3 ISO DNA:missense mutation, insertion:cds:p.S13N, G219fsX226 (human) RGD PMID:9620774 RGD:737764 NCBI chr 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    sensory system disease 5232
      eye disease 2665
        lens disease 222
          cataract 215
            cataract 9 multiple types 2
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal dominant disease 3040
                cataract 9 multiple types 2
paths to the root