choroid disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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:	choroid disease	go back to main search page
Accession:	DOID:1417	browse the term
Definition:	An uveal disease that is located_in the choroid. (DO)
Synonyms:	exact_synonym:	Choroidal Disease; Choroidal Diseases; choroid diseases
	narrow_synonym:	Collie eye anomaly; choroidal dystrophy; choroidal hypoplasia
	primary_id:	MESH:D015862
	alt_id:	OMIA:000218
	xref:	ICD10CM:H31.9; ICD9CM:363.9; NCI:C34468
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (63) Mouse (66) Human (1202) Chinchilla (58) Bonobo (65) Dog (65) Squirrel (61) Pig (64) Green Monkey (64) Naked Mole-rat (58) All
Genes (65)

choroid disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 10

DNA:SNP:promoter:rs6703630 (human)

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

non-homologous end joining factor 1

Choroidal hypoplasia, NHEJ1-related

PMID:120471 PMID:480920 PMID:4631461 PMID:4959239 PMID:4980211 More...

NCBI chr37:25,637,214...25,719,241
Ensembl chr37:25,637,601...25,715,372

G

peripherin 2

ClinVar Annotator: match by term: Choroidal Dystrophy

PMID:25741868 PMID:28492532 PMID:32531846

NCBI chr12:11,299,236...11,316,175
Ensembl chr12:11,299,236...11,316,175

autosomal dominant vitreoretinochoroidopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bestrophin 1

ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 | ClinVar Annotator: match by term: VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT, WITH NANOPHTHALMOS | ClinVar Annotator: match by term: VRCP autosomal dominant

PMID:2133066 PMID:9536098 PMID:10737974 PMID:10788642 PMID:10798642 More...

NCBI chr18:54,468,844...54,483,565
Ensembl chr18:54,468,844...54,480,311

G

ferritin heavy chain 1

ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT, WITH NANOPHTHALMOS | ClinVar Annotator: match by term: VRCP autosomal dominant

PMID:2133066 PMID:10788642 PMID:10798642 PMID:14615048 PMID:18985398 More...

NCBI chr18:54,466,167...54,468,733
Ensembl chr18:54,466,023...54,468,732

birdshot chorioretinopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MHC class I DLA-88

DNA:polymorphism:cds:HLA-B12 (human)

NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690

G

endoplasmic reticulum aminopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:12,780,084...12,819,795
Ensembl chr 3:12,781,849...12,817,025

G

interleukin 2

protein:increased expression:aqueous humor

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

Central Areolar Choroidal Dystrophy 2

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

peripherin 2

ClinVar Annotator: match by term: Choroidal dystrophy, central areolar 2 | ClinVar Annotator: match by term: MACULAR DYSTROPHY, PROGRESSIVE

PMID:279751 PMID:3441139 PMID:7493155 PMID:7825692 PMID:7880786 More...

NCBI chr12:11,299,236...11,316,175
Ensembl chr12:11,299,236...11,316,175

chorioretinitis

term browser

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Object Name

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

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G

collagen type II alpha 1 chain

associated with Toxoplasmosis, Congenital;DNA:snp:intron:IVS2-218 (rs1793958) (human)

NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733

Choroidal Neovascularization

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adiponectin, C1Q and collagen domain containing

treatment

PMID:16689928 PMID:17466298 PMID:22633972

RGD:2289282 RGD:8694464 RGD:8695931

NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844

G

amine oxidase copper containing 3

NCBI chr 9:20,158,581...20,179,773
Ensembl chr 9:20,157,410...20,241,376

G

bone morphogenetic protein 4

PMID:21411747 PMID:22392094

RGD:8699493 RGD:8699501

NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557

G

complement C5

NCBI chr11:73,953,727...74,029,919
Ensembl chr11:73,953,727...74,029,851

G

C-C motif chemokine ligand 2

treatment

NCBI chr 9:39,008,187...39,009,932

G

C-C motif chemokine receptor 2

NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698

G

C-C motif chemokine receptor 3

associated with Macular Degeneration

NCBI chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217

G

complement factor B

NCBI chr12:1,400,143...1,406,267

G

complement factor H

treatment

associated with myopia;DNA:SNP: :rs1061170(human)
DNA:SNPs:cds:p.Y402H,I62V(human)

PMID:22536038 PMID:22678500 PMID:23258212

RGD:7364943 RGD:7365030 RGD:7365031

NCBI chr38:2,878,677...2,956,226

G

MHC class I DLA-88

susceptibility

associated with Macular Degeneration; DNA:polymorphisms:cds:HLA-B27 (human)

NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690

G

delta like canonical Notch ligand 4

treatment

NCBI chr30:8,059,463...8,068,742
Ensembl chr30:8,059,512...8,067,940

G

coagulation factor VII

mouse protein in a rat model

NCBI chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024

G

fibroblast growth factor 2

treatment

NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151

G

fms related receptor tyrosine kinase 1

treatment

PMID:10849558 PMID:23804076 PMID:23977149

RGD:10402112 RGD:10402113 RGD:10402115

NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621

G

GLI family zinc finger 1

treatment

NCBI chr10:1,565,306...1,575,971
Ensembl chr10:1,565,244...1,575,982

G

hepatocyte growth factor

protein:increased expression:choroidal tissue:

NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263

G

hypoxia inducible factor 1 subunit alpha

treatment

NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692

G

HtrA serine peptidase 1

no_association

DNA:snp:promoter:g.-625G>A (rs11200638) (human)
human gene in mouse model
associated with Myopia; DNA:snp:promoter:g.-625G>A (rs11200638) (human)

PMID:18682806 PMID:19680273 PMID:21844367

RGD:7394694 RGD:7394720 RGD:7394749

NCBI chr28:32,133,779...32,157,835
Ensembl chr28:32,132,547...32,157,409

G

intercellular adhesion molecule 1

mRNA:increased expression:retina, choroid, sclera (rat)

NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914

G

insulin like growth factor 1 receptor

treatment

NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387

G

inhibitor of nuclear factor kappa B kinase subunit beta

treatment

NCBI chr16:23,359,551...23,419,114
Ensembl chr16:23,359,813...23,419,075

G

interleukin 10

treatment

PMID:16903779 PMID:22802947

RGD:7364853 RGD:7365068

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 2

treatment

associated with Macular Degeneration;protein:decreased expression:aqueous humor:

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

integrin subunit alpha V

NCBI chr36:28,815,215...28,890,569
Ensembl chr36:28,804,013...28,887,430

G

junctional adhesion molecule 3

treatment

NCBI chr 5:1,082,619...1,165,188
Ensembl chr 5:1,084,560...1,165,121

G

kinase insert domain receptor

treatment

PMID:12937991 PMID:15249365 PMID:18436847 PMID:19085383 PMID:22997228

RGD:8549713 RGD:8549716 RGD:8549738 RGD:8549741 RGD:8549747

NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042

G

leptin

associated with Metabolic Syndrome X;mRNA:increased expression:retina (rat)

NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395

G

lysyl oxidase like 1

NCBI chr30:37,191,201...37,204,163
Ensembl chr30:37,183,128...37,204,058

G

matrix metallopeptidase 13

NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121

G

matrix metallopeptidase 2

treatment

PMID:21666238 PMID:25314292

RGD:13207327 RGD:8657062

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

matrix metallopeptidase 9

treatment

protein:increased expression:plasma

PMID:12368198 PMID:17304258 PMID:25314292

RGD:13207327 RGD:8547840 RGD:8657061

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

patched 1

mRNA,protein:increased expression:choroid:

NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662

G

serpin family F member 1

treatment

human protein in a rat model
protein:increased expression:aqueous humor (human)
human gene in a mouse model

PMID:11424092 PMID:12037010 PMID:15312607 PMID:16490490 PMID:19778186 More...

RGD:2312356 RGD:27226711 RGD:28867245 RGD:8554866 RGD:8554883 RGD:8655557

NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765

G

superoxide dismutase 1

NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815

G

signal transducer and activator of transcription 3

treatment

associated with Diabetes Mellitus, Experimental

PMID:17525280 PMID:23094067

RGD:10403057 RGD:8694307

NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672

G

toll like receptor 2

associated with Chlamydophila Infections;

NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241

G

tyrosinase

ClinVar Annotator: match by term: Choroidal neovascularization

PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:7955413 More...

NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191

G

vascular endothelial growth factor A

treatment

CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:choroidal tissue,retina:

PMID:16680105 PMID:16723717 PMID:19013152 PMID:20237252

RGD:7483614 RGD:8548459 RGD:8548599

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

G

vascular endothelial growth factor B

NCBI chr18:52,821,348...52,824,649
Ensembl chr18:52,821,365...52,824,655

Choroidal Neovascularization, Experimental

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

delta like canonical Notch ligand 4

treatment

NCBI chr30:8,059,463...8,068,742
Ensembl chr30:8,059,512...8,067,940

G

serpin family E member 1

severity
treatment

human gene in mouse model
mRNA:increased expression:retina (mouse)

PMID:11292663 PMID:12766088 PMID:26610445

RGD:11073722 RGD:8547735 RGD:8547737

NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301

G

smoothened, frizzled class receptor

treatment

NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033

choroidal sclerosis

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

eyes shut homolog

ClinVar Annotator: match by term: Central areolar choroidal dystrophy

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32531858

NCBI chr12:27,184,500...28,708,705

G

guanylate cyclase 2D, retinal

ClinVar Annotator: match by term: Choroidal dystrophy, central areolar, 1

PMID:8554074 PMID:8733141 PMID:8944027 PMID:9536098 PMID:9618177 More...

NCBI chr 5:32,844,033...32,859,263
Ensembl chr 5:32,844,033...32,857,687

G

peripherin 2

ClinVar Annotator: match by term: Central areolar choroidal dystrophy

NCBI chr12:11,299,236...11,316,175
Ensembl chr12:11,299,236...11,316,175

G

tubulin tyrosine ligase like 5

ClinVar Annotator: match by term: Central areolar choroidal dystrophy

NCBI chr 8:48,651,766...48,920,733
Ensembl chr 8:48,651,814...48,920,039

Choroideremia

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CHM Rab escort protein

ClinVar Annotator: match by term: CHM-related condition | ClinVar Annotator: match by term: Choroideremia | ClinVar Annotator: match by term: Choroideremia, Salla type

PMID:1044764 PMID:1302003 PMID:1598901 PMID:7981670 PMID:7981671 More...

NCBI chr X:66,636,003...66,880,256
Ensembl chr X:66,639,095...66,880,209

G

peripherin 2

ClinVar Annotator: match by term: Progressive tapetochoroidal dystrophy

PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 More...

NCBI chr12:11,299,236...11,316,175
Ensembl chr12:11,299,236...11,316,175

choroiditis

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon gamma

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

gyrate atrophy

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NK1 homeobox 2

ClinVar Annotator: match by term: Ornithine aminotransferase deficiency

PMID:1737786 PMID:23076989 PMID:28492532

NCBI chr28:33,806,298...33,811,258
Ensembl chr28:33,806,292...33,811,458

G

ornithine aminotransferase

ClinVar Annotator: match by term: Ornithine aminotransferase deficiency

PMID:1301936 PMID:1427882 PMID:1487247 PMID:1609808 PMID:1612597 More...

NCBI chr28:33,763,661...33,788,817
Ensembl chr28:33,758,473...33,788,759

G

regulating synaptic membrane exocytosis 1

ClinVar Annotator: match by term: Ornithine aminotransferase deficiency

PMID:16199547 PMID:25741868 PMID:28492532 PMID:32531858

NCBI chr12:34,473,974...34,661,893
Ensembl chr12:34,474,033...34,659,410

Microcephaly and Chorioretinopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tubulin gamma complex component 6

ClinVar Annotator: match by term: Microcephaly and chorioretinopathy with or without intellectual disability

PMID:25344692 PMID:25741868 PMID:28492532

NCBI chr10:17,023,609...17,025,956
Ensembl chr10:17,006,770...17,025,105
Ensembl chr10:17,006,770...17,025,105

microcephaly and chorioretinopathy 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinesin family member 11

ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1

NCBI chr28:6,982,296...7,034,380
Ensembl chr28:6,982,146...7,033,104

G

polo like kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr19:13,041,739...13,060,300
Ensembl chr19:13,041,742...13,060,072

G

tumor protein p53 binding protein 1

ClinVar Annotator: match by term: Microcephaly with chorioretinopathy, autosomal recessive

PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 PMID:35418825

NCBI chr30:10,263,650...10,362,646
Ensembl chr30:10,263,650...10,336,134

G

tubulin gamma complex component 4

ClinVar Annotator: match by term: Microcephaly with chorioretinopathy, autosomal recessive

PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 PMID:35418825

NCBI chr30:10,226,558...10,262,805
Ensembl chr30:10,225,952...10,262,804

G

tubulin gamma complex component 6

ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 1 | ClinVar Annotator: match by term: TUBGCP6-related condition

PMID:5936364 PMID:9536098 PMID:17576681 PMID:22279524 PMID:25344692 More...

NCBI chr10:17,023,609...17,025,956
Ensembl chr10:17,006,770...17,025,105
Ensembl chr10:17,006,770...17,025,105

microcephaly and chorioretinopathy 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

polo like kinase 4

ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 2 | ClinVar Annotator: match by term: PLK4-related condition

PMID:9536098 PMID:17576681 PMID:25320347 PMID:25344692 PMID:25741868 More...

NCBI chr19:13,041,739...13,060,300
Ensembl chr19:13,041,742...13,060,072

microcephaly and chorioretinopathy 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p53 binding protein 1

ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 | ClinVar Annotator: match by term: TUBGCP4-related condition

PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 PMID:35418825

NCBI chr30:10,263,650...10,362,646
Ensembl chr30:10,263,650...10,336,134

G

tubulin gamma complex component 4

ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 | ClinVar Annotator: match by term: TUBGCP4-related condition

PMID:16199547 PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 More...

NCBI chr30:10,226,558...10,262,805
Ensembl chr30:10,225,952...10,262,804

Multifocal Choroiditis

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement factor B

no_association

DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human)

NCBI chr12:1,400,143...1,406,267

G

complement factor H

DNA:SNPs, missense mutation:introns, cds:multiple

NCBI chr38:2,878,677...2,956,226

partial central choroid dystrophy

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

peripherin 2

OMIM:613105

NCBI chr12:11,299,236...11,316,175
Ensembl chr12:11,299,236...11,316,175

Polypoidal Choroidal Vasculopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C2

susceptibility

DNA:SNP:intron:c.1360+62G>T (rs547154) (human)

NCBI chr12:1,363,656...1,399,732
Ensembl chr12:1,363,803...1,399,728

G

complement factor B

susceptibility

DNA:snp:intron:c.1169-69T>C (rs541862) (human)

NCBI chr12:1,400,143...1,406,267

G

complement factor H

no_association
susceptibility

DNA:missense mutation:cds:p.Y402H (rs1061170) (human)
DNA:SNP, missense mutation:promoter, cds:g.-257C>T, p.I62V (rs3753394, rs800292) (human)

NCBI chr38:2,878,677...2,956,226

G

C-reactive protein

NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166

G

elastin

no_association
susceptibility

DNA:SNP: :rs2301995(human)
DNA:SNP,haplotype: :rs2301995(human)

PMID:18326737 PMID:21391811

RGD:9585729 RGD:9585730

NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325

G

HtrA serine peptidase 1

susceptibility

DNA:snp:promoter:g.-625G>A (rs11200638) (human)
human gene in mouse model

PMID:21844367 PMID:23326481

RGD:7394749 RGD:7394751

NCBI chr28:32,133,779...32,157,835
Ensembl chr28:32,132,547...32,157,409

G

matrix metallopeptidase 2

protein:increased expression:serum

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

matrix metallopeptidase 9

protein:increased expression:serum

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

vascular endothelial growth factor A

susceptibility

DNA:SNP,haplotype: :rs833069(human)

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

Presumed Ocular Histoplasmosis Syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MHC class I DLA-88

DNA:polymorphism:cds:HLA-B7 (human)

NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690

Toxoplasma Chorioretinitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-X-C motif chemokine ligand 8

severity

protein:increased expression:serum (human)

NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

interleukin 10

DNA:SNP:promoter:−1082G>A (human)

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 6

susceptibility

DNA:polymorphism:promoter:-174G>C(human)

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

Term paths to the root

Path 1
Term	Annotations
disease	15754
sensory system disease	7033
eye disease	3621
uveal disease	227
choroid disease	65
Choroid Hemorrhage	0
Choroid Neoplasms +	0
Choroidal Effusions +	0
Choroidal Neovascularization +	44
Choroideremia +	2
Microcephaly and Chorioretinopathy +	5
Noble Bass Sherman Syndrome	0
Presumed Ocular Histoplasmosis Syndrome	1
autosomal dominant vitreoretinochoroidopathy	2
choroidal sclerosis +	4
choroiditis +	10
gyrate atrophy +	3
Path 2
Term	Annotations
disease	15754
disease of anatomical entity	15375
nervous system disease	13502
Neurologic Manifestations	9990
sensory system disease	7033
eye disease	3621
uveal disease	227
choroid disease	65
Choroid Hemorrhage	0
Choroid Neoplasms +	0
Choroidal Effusions +	0
Choroidal Neovascularization +	44
Choroideremia +	2
Microcephaly and Chorioretinopathy +	5
Noble Bass Sherman Syndrome	0
Presumed Ocular Histoplasmosis Syndrome	1
autosomal dominant vitreoretinochoroidopathy	2
choroidal sclerosis +	4
choroiditis +	10
gyrate atrophy +	3

paths to the root