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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


show annotations for term's descendants           Sort by:
cataract 13 with adult i phenotype term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C35H6orf52 chromosome 35 C6orf52 homolog ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr35:10,422,161...10,436,031
Ensembl chr35:10,422,255...10,432,336 		JBrowse link
G GCM2 glial cells missing transcription factor 2 ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr35:10,561,245...10,568,351
Ensembl chr35:10,561,514...10,568,106 		JBrowse link
G GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) ISO ClinVar Annotator: match by term: ADULT i BLOOD GROUP PHENOTYPE | ClinVar Annotator: match by term: Adult i blood group with or without congenital cataract | ClinVar Annotator: match by term: Blood group, I system | ClinVar Annotator: match by term: Cataract 13 with adult I phenotype OMIM
ClinVar		 PMID:9536098 PMID:11739194 PMID:12424189 PMID:12468428 PMID:15161861 More... NCBI chr35:10,304,741...10,387,746
Ensembl chr35:10,305,350...10,385,672 		JBrowse link
G LOC478720 transmembrane protein 14C ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr35:10,454,501...10,462,296 JBrowse link
G MAK male germ cell associated kinase ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr35:10,474,081...10,530,951
Ensembl chr35:10,475,179...10,525,089 		JBrowse link
G PAK1IP1 PAK1 interacting protein 1 ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr35:10,436,179...10,446,078
Ensembl chr35:10,436,226...10,445,853 		JBrowse link
G TFAP2A transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr35:10,157,043...10,180,484
Ensembl chr35:10,157,882...10,180,270 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    sensory system disease 6589
      eye disease 3365
        lens disease 421
          cataract 411
            cataract 13 with adult i phenotype 7
Path 2
Term Annotations click to browse term
  disease 17773
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6589
            eye disease 3365
              lens disease 421
                cataract 411
                  cataract 13 with adult i phenotype 7
paths to the root