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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, PMID:28492532 NCBI chr17:21,634,546...21,677,477
Ensembl chr17:21,634,551...21,739,408
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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 13 with adult i phenotype 1
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 recessive disease 2564
                cataract 13 with adult i phenotype 1
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.