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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


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:9463332 PMID:9497261 PMID:10227395 PMID:10426814 More... NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		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:9536098 PMID:16199547 PMID:17576681 PMID:19361779 PMID:22025892 More... NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      primary congenital glaucoma 13
        Glaucoma 3, Primary Infantile, B 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Neurologic Manifestations 10053
          sensory system disease 6962
            eye disease 3491
              ocular hypertension 186
                glaucoma 170
                  primary congenital glaucoma 13
                    Glaucoma 3, Primary Infantile, B 3
paths to the root