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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
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
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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 16058
    sensory system disease 5213
      eye disease 2652
        lens disease 220
          cataract 213
            cataract 9 multiple types 2
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                cataract 9 multiple types 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.