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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:primary congenital glaucoma
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Accession:DOID:0050593 term browser browse the term
Definition:A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities. (DO)
Synonyms:primary_id: RDO:9004911
 xref: NCI:C150251
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
primary congenital 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: Primary congenital glaucoma ClinVar PMID:17224759, PMID:17591938, PMID:18622259, PMID:20664688, PMID:21306220, PMID:24227805, PMID:26550445, PMID:27243976 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
ISS		 ClinVar Annotator: match by term: Primary congenital glaucoma
OMIM:613085 | OMIM:613086		 ClinVar
MouseDO		 NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569 		JBrowse link
G Rmdn2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: Primary congenital glaucoma ClinVar NCBI chr 6:2,215,062...2,292,288
Ensembl chr 6:2,216,623...2,280,777 		JBrowse link
buphthalmos 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 susceptibility ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
ClinVar Annotator: match by term: Glaucoma, congenital
ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset
ClinVar Annotator: match by term: Congenital glaucoma
ClinVar Annotator: match by OMIM:231300
DNA:missense mutation:cds:p.A388T (human)
DNA:missense mutation, deletion:exon:p.R390H, g.4633delC (human)
DNA:duplication:exon:g.1546-1555dupTCATGCCACC (human)
DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human)
DNA:missense mutations:exons:p.G61E, p.R469W, p.R523K (human)
DNA:deletion, snp:exons:g.4339delG, p.G61E (human)
DNA:snp:cds:p.E387K (human)
DNA:polymorphisms:multiple (human)		 OMIM
ClinVar		 PMID:9097971, PMID:9463332, PMID:9497261, PMID:10227395, PMID:10426814, PMID:10655546, PMID:10739169, PMID:10910054, PMID:11403040, PMID:11527932, PMID:11558822, PMID:11774072, PMID:11854439, PMID:11980847, PMID:12036985, PMID:12372064, PMID:14507861, PMID:15037581, PMID:15255109, PMID:15342693, PMID:16384942, PMID:16688110, PMID:16735991, PMID:16735994, PMID:16862072, PMID:17164573, PMID:17363580, PMID:17563717, PMID:17591938, PMID:17718864, PMID:17893647, PMID:18227148, PMID:18414103, PMID:18470941, PMID:18537981, PMID:18622259, PMID:18852424, PMID:19234632, PMID:19247456, PMID:19536304, PMID:19597567, PMID:19643970, PMID:19744731, PMID:19793111, PMID:19807744, PMID:20151268, PMID:20198978, PMID:20664688, PMID:21081970, PMID:21168818, PMID:21600657, PMID:21815720, PMID:21850185, PMID:21854771, PMID:22004014, PMID:22128238, PMID:22942166, PMID:23028769, PMID:23218183, PMID:23218701, PMID:23922489, PMID:24033266, PMID:24281366, PMID:24940937, PMID:25091052, PMID:25109919, PMID:25527694, PMID:25646030, PMID:25741868, PMID:25950505, PMID:25978063, PMID:26550974, PMID:27060699, PMID:27243976, PMID:27272408, PMID:27408750, PMID:27508083, PMID:27535533, PMID:27777502, PMID:27820421, PMID:28192799, PMID:28384041, PMID:28448622, PMID:28492532, PMID:28620713, PMID:29556725, PMID:30311386, PMID:32499604, PMID:94927261, PMID:16490498, PMID:19247456, PMID:12567107, PMID:19597567, PMID:19593207, PMID:20664688, PMID:10227395, PMID:23922489, PMID:12624268 RGD:7800719, RGD:7800711, RGD:7800707, RGD:7800689, RGD:7800688, RGD:7800680, RGD:7800670, RGD:7800657, RGD:734869 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 ISS
ISO		 OMIM:231300
ClinVar Annotator: match by term: Congenital glaucoma		 MouseDO
ClinVar		 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, congenital
ClinVar Annotator: match by term: Congenital glaucoma		 ClinVar PMID:19656777, 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 ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic ClinVar PMID:12447164, PMID:15025728, PMID:15723004, PMID:15733270, PMID:16288197, PMID:17563717, PMID:22194650, PMID:22736945 NCBI chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928 		JBrowse link
G Rmdn2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar NCBI chr 6:2,215,062...2,292,288
Ensembl chr 6:2,216,623...2,280,777 		JBrowse link
G Tyr tyrosinase ISS OMIM:231300 MouseDO NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802 		JBrowse link
Glaucoma 3, Primary Infantile, B 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary congenital glaucoma type 3B		 CTD
ClinVar		 PMID:11403040, PMID:12036985, 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 CTD 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
hydrophthalmos 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 DNA:insertion, deletions:exons, intron:g.1209_1214insC, g.1410_1422del, g.1389-?-1422+?del (human) RGD PMID:9097971 RGD:1599716 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:22426483 RGD:8549773 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905 		JBrowse link
G Kdr kinase insert domain receptor ISO RGD PMID:22426483 RGD:8549773 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183 		JBrowse link
Primary Congenital Glaucoma 3, D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, d
ClinVar Annotator: match by OMIM:613086		 OMIM
ClinVar		 PMID:19361779, PMID:19656777, PMID:20179738, PMID:21081970, PMID:23218701, PMID:23378721, PMID:23401661, PMID:25741868, PMID:26425313, PMID:27293371, PMID:28492532, PMID:30311386 NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569 		JBrowse link
Primary Congenital Glaucoma 3, E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tek TEK receptor tyrosine kinase ISO ClinVar Annotator: match by term: GLAUCOMA 3, PRIMARY CONGENITAL, E
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, E		 ClinVar
OMIM		 PMID:25741868, PMID:27270174 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 16108
    sensory system disease 5162
      eye disease 2593
        Hereditary Eye Diseases 572
          primary congenital glaucoma 9
            Glaucoma 3, Primary Infantile, B 3
            Primary Congenital Glaucoma 3, C 0
            Primary Congenital Glaucoma 3, D 1
            Primary Congenital Glaucoma 3, E 1
            buphthalmos 6
            hydrophthalmos + 8
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      cardiovascular system disease 4484
        vascular disease 3415
          artery disease 2364
            hypertension 1493
              ocular hypertension 161
                glaucoma 145
                  primary congenital glaucoma 9
                    Glaucoma 3, Primary Infantile, B 3
                    Primary Congenital Glaucoma 3, C 0
                    Primary Congenital Glaucoma 3, D 1
                    Primary Congenital Glaucoma 3, E 1
                    buphthalmos 6
                    hydrophthalmos + 8
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.