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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:9097971 PMID:9497261 PMID:10227395 PMID:15342693 PMID:16735994 More... NCBI chr17:79,706,940...79,715,061
Ensembl chr17:79,701,537...79,715,061
JBrowse link
G Efemp1 epidermal growth factor-containing fibulin-like extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Glaucoma of childhood ClinVar NCBI chr11:28,853,154...28,926,743
Ensembl chr11:28,853,204...28,926,743
JBrowse link
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Glaucoma of childhood ClinVar PMID:32832252 NCBI chr13:31,806,646...31,810,635
Ensembl chr13:31,806,633...31,812,476
JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Glaucoma of childhood ClinVar PMID:24033266 NCBI chr12:84,783,212...84,876,558
Ensembl chr12:84,783,212...84,876,532
JBrowse link
G Myoc myocilin susceptibility ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, A
ClinVar Annotator: match by term: MYOC-Related Disorders
ClinVar Annotator: match by term: Glaucoma 1, open angle, a, autosomal recessive
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 OMIM:137750
ClinVar Annotator: match by term: Glaucoma 1, open angle, a, digenic
ClinVar Annotator: match by term: Primary open angle glaucoma juvenile onset 1
OMIM
ClinVar
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 chr 1:162,639,150...162,649,694
Ensembl chr 1:162,639,155...162,649,693
JBrowse link
G Pax6 paired box 6 IEA MouseDO NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14538
    sensory system disease 5468
      eye disease 2737
        glaucoma 144
          open-angle glaucoma 71
            primary open angle glaucoma 44
              juvenile glaucoma 6
Path 2
Term Annotations click to browse term
  disease 14538
    disease of anatomical entity 14138
      cardiovascular system disease 3692
        vascular disease 2695
          artery disease 1709
            hypertension 861
              ocular hypertension 160
                glaucoma 144
                  open-angle glaucoma 71
                    primary open angle glaucoma 44
                      juvenile glaucoma 6
paths to the root