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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.


show annotations for term's descendants           Sort by:
 
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 term: Cataract 9, autosomal recessive
ClinVar Annotator: match by OMIM:604219
OMIM
ClinVar
PMID:9467006 PMID:10684623 PMID:11006246 PMID:11123904 PMID:12601044 More... NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349
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 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    sensory system disease 5611
      eye disease 2733
        lens disease 219
          cataract 212
            cataract 9 multiple types 2
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                cataract 9 multiple types 2
paths to the root