Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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;   GCNT2-RELATED CONDITION;   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: MIM:110800;   MIM: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 C17h6orf52 similar to human chromosome 6 open reading frame 52 ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr17:23,753,359...23,776,251
Ensembl chr17:23,762,746...23,776,245
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 chr17:23,652,637...23,661,754
Ensembl chr17:23,652,637...23,661,754
JBrowse link
G Gcnt2 glucosaminyl (N-acetyl) transferase 2 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 | ClinVar Annotator: match by term: GCNT2-related condition OMIM
ClinVar
PMID:9536098 PMID:11739194 PMID:12424189 PMID:12468428 PMID:15161861 More... NCBI chr17:23,796,859...23,901,625
Ensembl chr17:23,796,859...23,901,611
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 chr17:23,683,753...23,731,125
Ensembl chr17:23,693,878...23,730,001
JBrowse link
G Pak1ip1 PAK1 interacting protein 1 ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr17:23,742,217...23,753,325
Ensembl chr17:23,741,414...23,753,324
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 chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
JBrowse link
G Tmem14c transmembrane protein 14C ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr17:23,733,769...23,739,906
Ensembl chr17:23,733,894...23,753,320
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    sensory system disease 7375
      eye disease 3722
        lens disease 556
          cataract 545
            cataract 13 with adult i phenotype 7
Path 2
Term Annotations click to browse term
  disease 19141
    Pathological Conditions, Signs and Symptoms 13624
      Signs and Symptoms 11214
        Neurologic Manifestations 10450
          sensory system disease 7375
            eye disease 3722
              lens disease 556
                cataract 545
                  cataract 13 with adult i phenotype 7
paths to the root