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: hydrophthalmos
Accession: DOID:11212
browse the term
Definition: A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. (DO)
Synonyms: primary_id: MESH:D006871
xref: EFO:1000968 ; ICD10CM:Q15.0 ; NCI:C50648
For additional species annotation, visit the
Alliance of Genome Resources .
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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 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Flt1
Fms related receptor tyrosine kinase 1
ISO
RGD
PMID:22426483
RGD:8549773
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Kdr
kinase insert domain receptor
ISO
RGD
PMID:22426483
RGD:8549773
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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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 6:15,139,071...15,180,421
Ensembl chr 6:15,139,044...15,180,421
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Cpamd8
C3 and PZP-like, alpha-2-macroglobulin domain containing 8
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 4:155,332,827...155,413,117
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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 PMID:10227395 PMID:10426814 PMID:10655546 PMID:10739169 PMID:10910054 PMID:11184479 PMID:11403040 PMID:11527932 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:12372064 PMID:12525557 PMID:12598442 PMID:14507861 PMID:14635112 PMID:15037581 PMID:15255109 PMID:15342693 PMID:15621878 PMID:16199547 PMID:16384942 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17164573 PMID:17224759 PMID:17363580 PMID:17563717 PMID:17576681 PMID:17591938 PMID:17718864 PMID:17893647 PMID:18055790 PMID:18070520 PMID:18227148 PMID:18414103 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19195637 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19247456 PMID:19528825 PMID:19536304 PMID:19643970 PMID:19744731 PMID:19793111 PMID:19807744 PMID:20057908 PMID:20151268 PMID:20198978 PMID:20664688 PMID:20827438 PMID:21081970 PMID:21168818 PMID:21306220 PMID:21572728 PMID:21600657 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22128238 PMID:22878448 PMID:22942166 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24227805 PMID:24281366 PMID:24940937 PMID:25018621 PMID:25091052 PMID:25109919 PMID:25261878 PMID:25333069 PMID:25527694 PMID:25580891 PMID:25646030 PMID:25741868 PMID:25826643 PMID:25950505 PMID:25952714 PMID:25978063 PMID:26550445 PMID:26550974 PMID:26997785 PMID:27060699 PMID:27243976 PMID:27268095 PMID:27270415 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28192799 PMID:28384041 PMID:28425089 PMID:28448622 PMID:28492532 PMID:28620713 PMID:28644236 PMID:29142762 PMID:29556725 PMID:30108387 PMID:30484747 PMID:30520782 PMID:30653986 PMID:30662834 PMID:30788381 PMID:30820150 PMID:31024815 PMID:31251480 PMID:31453292 PMID:32224865 PMID:32476818 PMID:32499604 PMID:32510024 PMID:32830442 PMID:32832252 PMID:32860008 PMID:32883240 PMID:34956319 PMID:35085548 PMID:35170016 PMID:36076309 PMID:36239105 PMID:37788597 PMID:38219857 PMID:38755526 PMID:16490498 PMID:19247456 PMID:12567107 PMID:19597567 PMID:19593207 PMID:20664688 PMID:10227395 PMID:23922489 PMID:12624268 More...
RGD:7800719 , RGD:7800711 , RGD:7800707 , RGD:7800689 , RGD:7800688 , RGD:7800680 , RGD:7800670 , RGD:7800657 , RGD:734869
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Foxc1
forkhead box C1
ISS
OMIM:231300
MouseDO
NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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Galm
galactose mutarotase
ISO
ClinVar Annotator: match by term: Congenital glaucoma
ClinVar
PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480
NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310
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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 6:14,970,057...14,999,745
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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 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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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:16466712 PMID:17563717 PMID:22194650 PMID:22736945 PMID:25741868 PMID:28492532 PMID:35196929 More...
NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
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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 6:46,580,761...46,658,345
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Tyr
tyrosinase
ISS
OMIM:231300
MouseDO
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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