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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 13 with adult i phenotype
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Accession:DOID:0110242 term browser browse the term
Definition:A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24. (DO)
Synonyms:exact_synonym: ADULT i BLOOD GROUP WITH OR WITHOUT CONGENITAL CATARACT;   Adult i Blood Group with Congenital Cataract;   CTRCT13;   adult i blood group phenotype
 narrow_synonym: Adult i Blood Group without Congenital Cataract;   adult i phenotype without cataract
 related_synonym: I BLOOD GROUP SYSTEM
 primary_id: MESH:C566214
 alt_id: OMIM:110800;   OMIM:116700
For additional species annotation, visit the Alliance of Genome Resources.


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cataract 13 with adult i phenotype term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gcnt2 glucosaminyl (N-acetyl) transferase 2 (I blood group) ISO ClinVar Annotator: match by term: Adult I blood group with or without congenital cataract
ClinVar Annotator: match by term: Adult i blood group with or without congenital cataract
ClinVar Annotator: match by term: Adult i Blood Group with or without Congenital Cataract
ClinVar Annotator: match by term: Cataract 13 with adult i phenotype
OMIM
ClinVar
PMID:11739194 PMID:12424189 PMID:22935719 PMID:25457163 PMID:25741868 More... NCBI chr17:23,796,859...23,901,625
Ensembl chr17:23,796,859...23,901,611
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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 13 with adult i phenotype 1
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 recessive disease 3444
                cataract 13 with adult i phenotype 1
paths to the root