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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:juvenile glaucoma
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Accession:DOID:1068 term browser browse the term
Definition:A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures. (DO)
Synonyms:exact_synonym: GLC1A;   Glaucoma 1, Open Angle, A;   glaucoma of childhood
 narrow_synonym: GLAUCOMA 1, OPEN ANGLE, A, AUTOSOMAL RECESSIVE;   GLAUCOMA 1, OPEN ANGLE, A, DIGENIC;   GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1;   GLC1L;   JOAG1 GLAUCOMA 1, OPEN ANGLE, L
 broad_synonym: MYOC-related disorders
 primary_id: MESH:C564234
 alt_id: OMIM:137750
 xref: ORDO:98977
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
juvenile glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Glaucoma of childhood ClinVar PMID:9497261 PMID:10227395 PMID:15342693 PMID:16735994 PMID:18227148 More... NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Glaucoma of childhood ClinVar PMID:28492532 PMID:34923728 NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018 		JBrowse link
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Glaucoma of childhood ClinVar PMID:32832252 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Glaucoma of childhood ClinVar PMID:19361779 PMID:19656777 PMID:22025892 PMID:24033266 PMID:28492532 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
G Myoc myocilin susceptibility ISO DNA:snp:cds:pT377R (human)
DNA:snps:cds:p.P370L, p.Y437H (human)
DNA:insertion:cds:p.D395_E396insDP (human)
DNA:snp:cds:p.V251A (human)
DNA:snp:cds:p.N450Y (human)
DNA:snp:cds:p.Y371D (human)
DNA:snp:cds:p.D384N (human)
DNA:missense mutations, nonsense mutation:cds:multiple (human)
DNA:nonsense mutation, missense mutation, snps:exon, intron, 3' utr:multiple (human)
DNA:snp:cds:pC245Y (human)
DNA:snp:cds:pD380A (human)
ClinVar Annotator: match by term: Glaucoma 1, open angle, A | ClinVar Annotator: match by term: Glaucoma of childhood | ClinVar Annotator: match by term: MYOC-Related Disorders | ClinVar Annotator: match by term: Primary open angle glaucoma juvenile onset 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:3756132 PMID:6770678 PMID:8513321 PMID:9005853 PMID:9328473 More... RGD:7394787, RGD:7394788, RGD:7394798, RGD:7394800, RGD:7394828, RGD:7394834, RGD:7394848, RGD:7401186, RGD:7401192, RGD:7401247, RGD:7401248 NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127 		JBrowse link
G Pax6 paired box 6 ISS MouseDO NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      eye disease 3492
        glaucoma 170
          open-angle glaucoma 79
            primary open angle glaucoma 48
              juvenile glaucoma 6
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              ocular hypertension 186
                glaucoma 170
                  open-angle glaucoma 79
                    primary open angle glaucoma 48
                      juvenile glaucoma 6
paths to the root