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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:xref: NCI:C150251


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:9097971 PMID:9463332 PMID:9497261 PMID:10227395 PMID:10655546 More... NCBI chr 6:21,093,927...21,103,091
Ensembl chr 6:21,078,146...21,103,142 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Primary congenital glaucoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:110,161,029...110,261,586
Ensembl chr 6:110,161,029...110,257,298 		JBrowse link
buphthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl2 atlastin GTPase 2 ISO ClinVar Annotator: match by term: Congenital glaucoma ClinVar PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 NCBI chr 6:20,891,220...20,932,644
Ensembl chr 6:20,891,227...20,933,320 		JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 susceptibility ISO
ISS 		ClinVar Annotator: match by term: Congenital glaucoma | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A | ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset
OMIM:231300
CTD Direct Evidence: marker/mechanism
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
MouseDO
CTD
RGD		 PMID:2782041 PMID:9097971 PMID:9463332 PMID:9497261 PMID:9536098 More... RGD:7800719, RGD:7800711, RGD:7800707, RGD:7800689, RGD:7800688, RGD:7800680, RGD:7800670, RGD:7800657, RGD:734869 NCBI chr 6:21,093,927...21,103,091
Ensembl chr 6:21,078,146...21,103,142 		JBrowse link
G Foxc1 forkhead box C1 ISS OMIM:231300 MouseDO NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,805,858...32,844,347 		JBrowse link
G Galm galactose mutarotase ISO ClinVar Annotator: match by term: Congenital glaucoma ClinVar PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 NCBI chr 6:20,589,775...20,641,516
Ensembl chr 6:20,589,776...20,644,417 		JBrowse link
G Hnrnpll heterogeneous nuclear ribonucleoprotein L-like ISO ClinVar Annotator: match by term: Congenital glaucoma ClinVar PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 NCBI chr 6:14,969,953...15,000,574
Ensembl chr 6:20,722,184...20,752,802 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar PMID:19656777 NCBI chr 6:110,161,029...110,261,586
Ensembl chr 6:110,161,029...110,257,298 		JBrowse link
G Mug6 murinoglobulin 6 ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar PMID:25741868 NCBI chr 4:155,332,827...155,413,098
Ensembl chr 4:157,004,905...157,085,250 		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 More... NCBI chr13:74,976,730...74,987,128
Ensembl chr13:77,509,963...77,520,361 		JBrowse link
G Pxdn peroxidasin ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar PMID:25741868 NCBI chr 6:46,580,749...46,658,345
Ensembl chr 6:52,308,364...52,385,942 		JBrowse link
G Rmdn2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar PMID:31251480 PMID:31690835 NCBI chr 6:15,372,569...15,443,000
Ensembl chr 6:21,119,396...21,193,684 		JBrowse link
G Tyr tyrosinase ISS OMIM:231300 MouseDO NCBI chr 1:150,527,687...150,622,857
Ensembl chr 1:150,527,687...150,622,857 		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:9097971 PMID:9463332 PMID:9497261 PMID:10426814 PMID:10655546 More... NCBI chr 6:21,093,927...21,103,091
Ensembl chr 6:21,078,146...21,103,142 		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 | ClinVar Annotator: match by term: Primary congenital glaucoma type 3B 		CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361779 PMID:19656777 More... NCBI chr 6:110,161,029...110,261,586
Ensembl chr 6:110,161,029...110,257,298 		JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glaucoma 3, primary infantile, B | ClinVar Annotator: match by term: Primary congenital glaucoma type 3B 		CTD
ClinVar		 PMID:25741868 PMID:27270174 PMID:28492532 NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:114,723,006...114,849,991 		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 6:21,093,927...21,103,091
Ensembl chr 6:21,078,146...21,103,142 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:22426483 RGD:8549773 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:12,333,430...12,504,750 		JBrowse link
G Kdr kinase insert domain receptor ISO RGD PMID:22426483 RGD:8549773 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192 		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 term: Glaucoma 3, primary congenital, d
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, nonsense mutations:CDS:multiple (human)
DNA:nonsense mutation:CDS:p.W807X (human)
DNA:missense mutations, frameshift mutation:CDS:p.D1010N, p.C1757Y, p.Q1143fs*35 (human)
DNA:frameshift mutations:CDS:p.S472fsX3, p.Y1793fsX55 (human) 		OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:17576681 PMID:19361779 PMID:19656777 PMID:20179738 More... RGD:156451378, RGD:156451372, RGD:156431215, RGD:156431212 NCBI chr 6:110,161,029...110,261,586
Ensembl chr 6:110,161,029...110,257,298 		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: TEK-related condition OMIM
ClinVar		 PMID:7783168 PMID:7833915 PMID:8415706 PMID:8980225 PMID:9926914 More... NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:114,723,006...114,849,991 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      primary congenital glaucoma 14
        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 11
        hydrophthalmos + 13
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            eye disease 3565
              ocular hypertension 188
                glaucoma 172
                  primary congenital glaucoma 14
                    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 11
                    hydrophthalmos + 13
paths to the root