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.

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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 (61)

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 chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502

G

non-homologous end joining factor 1

Choroidal hypoplasia, NHEJ1-related

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

NCBI chrNW_004936569:1,494,783...1,578,587
Ensembl chrNW_004936569:1,495,446...1,578,590

G

peripherin 2

ClinVar Annotator: match by term: Choroidal Dystrophy

PMID:25741868 PMID:28492532 PMID:32531846

NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981

autosomal dominant vitreoretinochoroidopathy

term browser

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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 chrNW_004936581:1,120,681...1,132,226
Ensembl chrNW_004936581:1,120,474...1,132,230

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 chrNW_004936581:1,118,905...1,120,592

birdshot chorioretinopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

endoplasmic reticulum aminopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936523:6,545,281...6,584,403
Ensembl chrNW_004936523:6,544,207...6,584,452

G

interleukin 2

protein:increased expression:aqueous humor

NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625

Central Areolar Choroidal Dystrophy 2

term browser

Symbol

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 chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981

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)

Position

G

collagen type II alpha 1 chain

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

NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853

Choroidal Neovascularization

term browser

Symbol

Object Name

Qualifiers

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 chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928

G

bone morphogenetic protein 4

PMID:21411747 PMID:22392094

RGD:8699493 RGD:8699501

NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468

G

complement C5

NCBI chrNW_004936487:9,391,774...9,474,168
Ensembl chrNW_004936487:9,391,804...9,474,159

G

C-C motif chemokine receptor 3

associated with Macular Degeneration

NCBI chrNW_004936596:223,660...224,739
Ensembl chrNW_004936596:223,660...224,739

G

complement factor B

NCBI chrNW_004936727:1,595,872...1,602,274
Ensembl chrNW_004936727:1,595,499...1,602,215

G

delta like canonical Notch ligand 4

treatment

NCBI chrNW_004936471:4,320,235...4,330,251
Ensembl chrNW_004936471:4,320,933...4,330,253

G

coagulation factor VII

mouse protein in a rat model

NCBI chrNW_004936472:505,751...515,375
Ensembl chrNW_004936472:505,751...514,339

G

fms related receptor tyrosine kinase 1

treatment

PMID:10849558 PMID:23804076 PMID:23977149

RGD:10402112 RGD:10402113 RGD:10402115

NCBI chrNW_004936472:23,442,946...23,617,523
Ensembl chrNW_004936472:23,440,088...23,617,041

G

GLI family zinc finger 1

treatment

NCBI chrNW_004936646:1,622,308...1,629,787
Ensembl chrNW_004936646:1,622,308...1,629,779

G

hepatocyte growth factor

protein:increased expression:choroidal tissue:

NCBI chrNW_004936734:354,798...428,356
Ensembl chrNW_004936734:356,115...428,779

G

hypoxia inducible factor 1 subunit alpha

treatment

NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157

G

HtrA serine peptidase 1

no_association

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

PMID:18682806 PMID:19680273 PMID:21844367

RGD:7394694 RGD:7394720 RGD:7394749

NCBI chrNW_004936486:11,271,130...11,317,271
Ensembl chrNW_004936486:11,271,130...11,316,739

G

intercellular adhesion molecule 1

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

NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174

G

insulin like growth factor 1 receptor

treatment

NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925

G

inhibitor of nuclear factor kappa B kinase subunit beta

treatment

NCBI chrNW_004936785:358,128...406,751
Ensembl chrNW_004936785:356,168...406,773

G

interleukin 10

treatment

PMID:16903779 PMID:22802947

RGD:7364853 RGD:7365068

NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502

G

interleukin 2

treatment

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

NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625

G

integrin subunit alpha V

NCBI chrNW_004936506:10,750,116...10,839,018
Ensembl chrNW_004936506:10,750,101...10,839,303

G

junctional adhesion molecule 3

treatment

NCBI chrNW_004936684:1,689,594...1,762,066
Ensembl chrNW_004936684:1,692,089...1,762,087

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 chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002

G

leptin

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

NCBI chrNW_004936479:15,394,966...15,411,334
Ensembl chrNW_004936479:15,394,966...15,411,334

G

amine oxidase copper containing 3

NCBI chrNW_004936490:17,549,836...17,564,867

G

lysyl oxidase like 1

NCBI chrNW_004936471:33,075,542...33,099,877
Ensembl chrNW_004936471:33,075,461...33,099,910

G

matrix metallopeptidase 13

NCBI chrNW_004936551:5,040,084...5,050,384
Ensembl chrNW_004936551:5,040,084...5,050,384

G

matrix metallopeptidase 2

treatment

PMID:21666238 PMID:25314292

RGD:13207327 RGD:8657062

NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851

G

matrix metallopeptidase 9

treatment

protein:increased expression:plasma

PMID:12368198 PMID:17304258 PMID:25314292

RGD:13207327 RGD:8547840 RGD:8657061

NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793

G

patched 1

mRNA,protein:increased expression:choroid:

NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476

G

serpin family F member 1

treatment

human gene in a mouse model
protein:increased expression:aqueous humor (human)
human protein in a rat 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 chrNW_004936538:7,885,816...7,898,308
Ensembl chrNW_004936538:7,885,475...7,899,113

G

superoxide dismutase 1

NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867

G

signal transducer and activator of transcription 3

treatment

associated with Diabetes Mellitus, Experimental

PMID:17525280 PMID:23094067

RGD:10403057 RGD:8694307

NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402

G

toll like receptor 2

associated with Chlamydophila Infections;

NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788

G

thymidine phosphorylase

NCBI chrNW_004936629:315,609...320,356
Ensembl chrNW_004936629:315,610...319,076

G

tyrosinase

ClinVar Annotator: match by term: Choroidal neovascularization

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

NCBI chrNW_004936736:421,623...519,085
Ensembl chrNW_004936736:421,598...519,253

G

vascular endothelial growth factor A

treatment

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

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

RGD:7483614 RGD:8548459 RGD:8548599

NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673

G

vascular endothelial growth factor B

NCBI chrNW_004936599:4,963,161...4,966,258
Ensembl chrNW_004936599:4,962,222...4,966,264

Choroidal Neovascularization, Experimental

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

delta like canonical Notch ligand 4

treatment

NCBI chrNW_004936471:4,320,235...4,330,251
Ensembl chrNW_004936471:4,320,933...4,330,253

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 chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123

G

smoothened, frizzled class receptor

treatment

NCBI chrNW_004936579:5,893,064...5,917,021
Ensembl chrNW_004936579:5,892,542...5,917,281

choroidal sclerosis

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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 chrNW_004936595:1,235,747...1,250,294
Ensembl chrNW_004936595:1,235,711...1,250,354

G

eyes shut homolog

ClinVar Annotator: match by term: Central areolar choroidal dystrophy

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

NCBI chrNW_004936476:158,391...1,289,639

G

peripherin 2

ClinVar Annotator: match by term: Central areolar choroidal dystrophy

NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981

G

tubulin tyrosine ligase like 5

ClinVar Annotator: match by term: Central areolar choroidal dystrophy

NCBI chrNW_004936488:4,723,314...4,983,926
Ensembl chrNW_004936488:4,724,909...4,983,318

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 chrNW_004936547:6,368,941...6,533,199
Ensembl chrNW_004936547:6,368,918...6,533,237

G

peripherin 2

ClinVar Annotator: match by term: Progressive tapetochoroidal dystrophy

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

NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981

choroiditis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon gamma

NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452

gyrate atrophy

term browser

Symbol

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 chrNW_004936486:12,758,605...12,761,012
Ensembl chrNW_004936486:12,758,605...12,761,012

G

ornithine aminotransferase

ClinVar Annotator: match by term: Ornithine aminotransferase deficiency

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

NCBI chrNW_004936486:12,723,363...12,743,367
Ensembl chrNW_004936486:12,723,305...12,743,422

G

regulating synaptic membrane exocytosis 1

ClinVar Annotator: match by term: Ornithine aminotransferase deficiency

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

NCBI chrNW_004936618:3,678,400...4,047,994
Ensembl chrNW_004936618:3,606,524...4,047,711

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 chrNW_004936629:568,014...587,726
Ensembl chrNW_004936629:568,067...587,554

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 chrNW_004936601:2,163,316...2,213,674
Ensembl chrNW_004936601:2,163,795...2,213,588

G

polo like kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936642:2,837,041...2,855,369
Ensembl chrNW_004936642:2,837,022...2,855,103

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 chrNW_004936471:6,589,395...6,668,242
Ensembl chrNW_004936471:6,589,564...6,668,305

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 chrNW_004936471:6,542,295...6,588,484
Ensembl chrNW_004936471:6,541,713...6,591,692

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 chrNW_004936629:568,014...587,726
Ensembl chrNW_004936629:568,067...587,554

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 chrNW_004936642:2,837,041...2,855,369
Ensembl chrNW_004936642:2,837,022...2,855,103

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 chrNW_004936471:6,589,395...6,668,242
Ensembl chrNW_004936471:6,589,564...6,668,305

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 chrNW_004936471:6,542,295...6,588,484
Ensembl chrNW_004936471:6,541,713...6,591,692

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 chrNW_004936727:1,595,872...1,602,274
Ensembl chrNW_004936727:1,595,499...1,602,215

partial central choroid dystrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

peripherin 2

OMIM:613105

NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981

Polypoidal Choroidal Vasculopathy

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C2

susceptibility

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

NCBI chrNW_004936727:1,602,400...1,615,974
Ensembl chrNW_004936727:1,602,398...1,616,060

G

complement factor B

susceptibility

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

NCBI chrNW_004936727:1,595,872...1,602,274
Ensembl chrNW_004936727:1,595,499...1,602,215

G

C-reactive protein

NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606

G

elastin

no_association
susceptibility

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

PMID:18326737 PMID:21391811

RGD:9585729 RGD:9585730

NCBI chrNW_004936543:3,135,169...3,165,023

G

HtrA serine peptidase 1

susceptibility

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

PMID:21844367 PMID:23326481

RGD:7394749 RGD:7394751

NCBI chrNW_004936486:11,271,130...11,317,271
Ensembl chrNW_004936486:11,271,130...11,316,739

G

matrix metallopeptidase 2

protein:increased expression:serum

NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851

G

matrix metallopeptidase 9

protein:increased expression:serum

NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793

G

vascular endothelial growth factor A

susceptibility

DNA:SNP,haplotype: :rs833069(human)

NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673

Toxoplasma Chorioretinitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 10

DNA:SNP:promoter:−1082G>A (human)

NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502

G

interleukin 6

susceptibility

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

NCBI chrNW_004936549:7,015,595...7,016,246

G

interleukin-8

severity

protein:increased expression:serum (human)

NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353

Term paths to the root

Path 1
Term	Annotations
disease	14637
sensory system disease	6685
eye disease	3439
uveal disease	205
choroid disease	61
Choroid Hemorrhage	0
Choroid Neoplasms +	0
Choroidal Effusions +	0
Choroidal Neovascularization +	40
Choroideremia +	2
Microcephaly and Chorioretinopathy +	5
Noble Bass Sherman Syndrome	0
Presumed Ocular Histoplasmosis Syndrome	0
autosomal dominant vitreoretinochoroidopathy	2
choroidal sclerosis +	4
choroiditis +	8
gyrate atrophy +	3
Path 2
Term	Annotations
disease	14637
disease of anatomical entity	14326
nervous system disease	12610
Neurologic Manifestations	9421
sensory system disease	6685
eye disease	3439
uveal disease	205
choroid disease	61
Choroid Hemorrhage	0
Choroid Neoplasms +	0
Choroidal Effusions +	0
Choroidal Neovascularization +	40
Choroideremia +	2
Microcephaly and Chorioretinopathy +	5
Noble Bass Sherman Syndrome	0
Presumed Ocular Histoplasmosis Syndrome	0
autosomal dominant vitreoretinochoroidopathy	2
choroidal sclerosis +	4
choroiditis +	8
gyrate atrophy +	3

paths to the root