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: Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical.
Synonyms: primary_id: MESH:D006871
alt_id: RDO:0005823
xref: 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 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
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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
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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
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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:18227148 PMID:18414103 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19204079 PMID:19234632 PMID:19236111 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:24123366 PMID:24281366 PMID:24940937 PMID:25091052 PMID:25109919 PMID:25333069 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:30653986 PMID:30788381 PMID:32499604 PMID:32832252 PMID:32860008 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
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Foxc1
forkhead box C1
ISS
OMIM:231300
MouseDO
NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
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Ltbp2
latent transforming growth factor beta binding protein 2
ISO
ClinVar Annotator: match by term: Glaucoma, congenital
ClinVar
PMID:19656777
NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
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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:17563717 PMID:22194650 PMID:22736945
NCBI chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928
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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
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Tyr
tyrosinase
ISS
OMIM:231300
MouseDO
NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all