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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 PMID:17591938 PMID:17893647 PMID:18227148 PMID:18414103 PMID:18537981 PMID:19234632 PMID:21081970 PMID:21600657 PMID:21854771 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24281366 PMID:25091052 PMID:25109919 PMID:25741868 PMID:25950505 PMID:27243976 PMID:27272408 PMID:27820421 PMID:28448622 PMID:28492532 PMID:32499604 PMID:32832252 PMID:94927261 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
JBrowse link
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Glaucoma of childhood ClinVar PMID:32832252 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
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 chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
JBrowse link
G Myoc myocilin susceptibility ISO 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
ClinVar Annotator: match by term: MYOC-Related Disorders
ClinVar Annotator: match by term: Glaucoma 1, open angle, A
OMIM
ClinVar
PMID:3756132 PMID:6770678 PMID:8513321 PMID:9005853 PMID:9328473 PMID:9345106 PMID:9361308 PMID:9535666 PMID:9556305 PMID:9639450 PMID:9697688 PMID:9754180 PMID:9804137 PMID:10196380 PMID:10330365 PMID:10545602 PMID:10644174 PMID:10798654 PMID:10815160 PMID:10819638 PMID:10873982 PMID:10980537 PMID:11004290 PMID:11133859 PMID:11281418 PMID:11292420 PMID:11298682 PMID:11535458 PMID:11774072 PMID:11803488 PMID:11815346 PMID:12189160 PMID:12356829 PMID:12447164 PMID:12522550 PMID:12868033 PMID:12872267 PMID:14193667 PMID:14627955 PMID:14688426 PMID:14767915 PMID:15025728 PMID:15723004 PMID:15733270 PMID:15790895 PMID:15851979 PMID:16148883 PMID:16288197 PMID:16401791 PMID:16466712 PMID:16636654 PMID:17210859 PMID:17438518 PMID:17499207 PMID:17562996 PMID:17563717 PMID:17615537 PMID:17893664 PMID:18776955 PMID:19023451 PMID:19145250 PMID:20021252 PMID:21552496 PMID:21612213 PMID:21850185 PMID:22194650 PMID:22736945 PMID:22933836 PMID:23029558 PMID:23304066 PMID:23922489 PMID:24732711 PMID:24825108 PMID:25741868 PMID:26633542 PMID:27485216 PMID:28492532, PMID:23886590, PMID:9792882, PMID:23566828, PMID:23517641, PMID:20806035, PMID:19784393, PMID:19234343, PMID:12442283, PMID:17893664, PMID:16401791, PMID:17893668 RGD:7394787, RGD:7394788, RGD:7394798, RGD:7394800, RGD:7394828, RGD:7394834, RGD:7394848, RGD:7401186, RGD:7401192, RGD:7401247, RGD:7401248 NCBI chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928
JBrowse link
G Pax6 paired box 6 ISS MouseDO NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    sensory system disease 5584
      eye disease 2725
        glaucoma 142
          open-angle glaucoma 68
            primary open angle glaucoma 42
              juvenile glaucoma 5
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
                  open-angle glaucoma 68
                    primary open angle glaucoma 42
                      juvenile glaucoma 5
paths to the root