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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 50 with or without Glaucoma
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Accession:DOID:9006366 term browser browse the term
Definition:A pediatric or early-onset cataract, with more than half of affected individuals exhibiting high-tension glaucoma. Caused by heterozygous mutation in the TRPM3 gene on chromosome 9q21.
Synonyms:exact_synonym: CTRCT50
 primary_id: OMIM:620253

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Cataract 50 with or without Glaucoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPM3 transient receptor potential cation channel subfamily M member 3 ISO ClinVar Annotator: match by term: Cataract 50 with or without glaucoma ClinVar
OMIM		 PMID:25090642 NCBI chr12:81,608,301...82,616,349
Ensembl chr12:81,609,229...81,925,984 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15273
    sensory system disease 6524
      eye disease 3344
        glaucoma 161
          Cataract 50 with or without Glaucoma 1
Path 2
Term Annotations click to browse term
  disease 15273
    Pathological Conditions, Signs and Symptoms 11780
      Signs and Symptoms 9744
        Neurologic Manifestations 9422
          sensory system disease 6524
            eye disease 3344
              lens disease 412
                cataract 402
                  Cataract 50 with or without Glaucoma 1
paths to the root