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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:Glaucoma 3, Primary Infantile, B
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Accession:DOID:9007147 term browser browse the term
Synonyms:exact_synonym: GLC3, TYPE B;   GLC3B;   Glaucoma, Primary Congenital, Type B;   Primary congenital glaucoma type 3B
 primary_id: MESH:C536824;   RDO:0002517
 alt_id: OMIM:600975
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Glaucoma 3, Primary Infantile, B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary congenital glaucoma type 3B
CTD
ClinVar
PMID:9097971 PMID:9497261 PMID:11403040 PMID:12036985 PMID:19234632 PMID:19643970 PMID:22004014 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24281366 PMID:25741868 PMID:27820421 PMID:28492532 PMID:32499604 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glaucoma 3, primary infantile, b
CTD
ClinVar
PMID:25741868 NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    physical disorder 3071
      primary congenital glaucoma 9
        Glaucoma 3, Primary Infantile, B 3
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      cardiovascular system disease 4490
        vascular disease 3413
          artery disease 2387
            hypertension 1506
              ocular hypertension 158
                glaucoma 142
                  primary congenital glaucoma 9
                    Glaucoma 3, Primary Infantile, B 3
paths to the root