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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:sclerocornea
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Accession:DOID:0060252 term browser browse the term
Definition:A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. (DO)
Synonyms:exact_synonym: isolated congenital sclerocornea
 narrow_synonym: SCLEROCORNEA, AUTOSOMAL RECESSIVE
 primary_id: MESH:C565209;   RDO:0013918
 xref: ORDO:91490


show annotations for term's descendants           Sort by:
sclerocornea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1H14orf39 chromosome 1 C14orf39 homolog ISO ClinVar Annotator: match by term: Sclerocornea ClinVar NCBI chr 1:189,330,137...189,471,874
Ensembl chr 1:189,407,490...189,470,541 		JBrowse link
G RAD54L RAD54 like ISO OMIM:181700 MouseDO NCBI chr 6:165,156,833...165,184,641
Ensembl chr 6:165,152,978...165,184,776 		JBrowse link
G SIX6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Sclerocornea ClinVar NCBI chr 1:189,497,807...189,503,189
Ensembl chr 1:189,497,815...189,503,500 		JBrowse link
anterior segment dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:19836009 PMID:24940034 PMID:28492532 PMID:32499604 NCBI chr 1:138,619,701...139,015,681
Ensembl chr 1:138,619,706...139,015,473 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chr11:76,858,332...76,997,409
Ensembl chr11:76,858,356...76,997,322 		JBrowse link
G CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:25741868 PMID:27839872 PMID:32499604 NCBI chr 2:60,636,025...60,742,120
Ensembl chr 2:60,636,047...60,742,137 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesis ClinVar PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 More... NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Anterior segment anomalies | ClinVar Annotator: match by term: Anterior segment anomalies and cataract ClinVar PMID:10655545 NCBI chr 4:63,970,939...64,328,107
Ensembl chr 4:63,970,807...64,328,105 		JBrowse link
G FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:28492532 PMID:28513611 PMID:32499604 NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805 		JBrowse link
G FOXE3 forkhead box E3 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesis ClinVar PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 More... NCBI chr 6:164,130,638...164,133,218
Ensembl chr 6:164,132,034...164,133,011 		JBrowse link
G GJA8 gap junction protein alpha 8 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:32499604 NCBI chr 4:99,721,754...99,724,943
Ensembl chr 4:99,723,341...99,724,672 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:21465660 PMID:25741868 PMID:27108798 PMID:32499604 NCBI chr13:61,068,131...61,398,918
Ensembl chr13:61,068,126...61,398,912 		JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:24281366 PMID:32499604 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,978,287...29,001,200 		JBrowse link
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:7581385 PMID:9437321 PMID:15591271 PMID:22569110 PMID:25741868 More... NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298 		JBrowse link
G PITX3 paired like homeodomain 3 ISO CTD Direct Evidence: marker/mechanism
DNA:insertion:exon:c.657ins17bp		 CTD
MouseDO
RGD		 PMID:9620774 PMID:18989383 RGD:11535067 NCBI chr14:113,230,194...113,241,393
Ensembl chr14:113,230,965...113,241,360 		JBrowse link
G PXDN peroxidasin ISO ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES ClinVar PMID:25741868 PMID:26694549 PMID:28492532 PMID:32499604 NCBI chr 3:132,306,288...132,362,853
Ensembl chr 3:132,306,447...132,362,841 		JBrowse link
G RBP4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:25741868 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765 		JBrowse link
G TSC1 TSC complex subunit 1 ISO MouseDO NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951 		JBrowse link
anterior segment dysgenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXE3 forkhead box E3 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 1 ClinVar PMID:28492532 NCBI chr 6:164,130,638...164,133,218
Ensembl chr 6:164,132,034...164,133,011 		JBrowse link
G GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: Anterior segment dysgenesis 1 ClinVar PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:17888164 More... NCBI chr14:113,245,486...113,379,472
Ensembl chr14:113,245,502...113,379,471 		JBrowse link
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 1 ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298 		JBrowse link
G PITX3 paired like homeodomain 3 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: Anterior segment dysgenesis 1 OMIM
ClinVar		 PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:17888164 More... NCBI chr14:113,230,194...113,241,393
Ensembl chr14:113,230,965...113,241,360 		JBrowse link
anterior segment dysgenesis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXE3 forkhead box E3 susceptibility ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 2 ClinVar
OMIM		 PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 More... NCBI chr 6:164,130,638...164,133,218
Ensembl chr 6:164,132,034...164,133,011 		JBrowse link
anterior segment dysgenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 3 | ClinVar Annotator: match by term: Glaucoma iridogoniodysplasia, familial OMIM
ClinVar		 PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 More... NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805 		JBrowse link
anterior segment dysgenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant OMIM
ClinVar		 PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:25741868 More... NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298 		JBrowse link
anterior segment dysgenesis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 More... NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683 		JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532 NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,987...29,230,077 		JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:21931569 PMID:26893459 PMID:28492532 NCBI chr 1:207,535,811...207,804,525
Ensembl chr 1:207,641,011...207,801,952 		JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE OMIM
ClinVar		 PMID:1251879 PMID:1684738 PMID:1954207 PMID:6988567 PMID:8364574 More... NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,978,287...29,001,200 		JBrowse link
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:1347096 PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223 		JBrowse link
anterior segment dysgenesis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 6 | ClinVar Annotator: match by term: Anterior segment dysgenesis 6, multiple subtypes OMIM
ClinVar		 PMID:2782041 PMID:9097971 PMID:9463332 PMID:9497261 PMID:10227395 More... NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683 		JBrowse link
anterior segment dysgenesis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PXDN peroxidasin ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 7 | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21474777 PMID:21907015 PMID:24939590 More... NCBI chr 3:132,306,288...132,362,853
Ensembl chr 3:132,306,447...132,362,841 		JBrowse link
anterior segment dysgenesis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCOR BCL6 corepressor ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 8 ClinVar PMID:25741868 NCBI chr  X:35,768,013...35,891,013
Ensembl chr  X:35,768,017...35,814,833 		JBrowse link
G CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 8 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:27839872 PMID:28492532 PMID:29556725 More... NCBI chr 2:60,636,025...60,742,120
Ensembl chr 2:60,636,047...60,742,137 		JBrowse link
congenital aphakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CMPK1 cytidine/uridine monophosphate kinase 1 ISO ClinVar Annotator: match by term: Congenital primary aphakia ClinVar PMID:28492532 NCBI chr 6:164,161,439...164,197,429
Ensembl chr 6:164,162,518...164,197,379 		JBrowse link
G FOXE3 forkhead box E3 ISO ClinVar Annotator: match by term: Congenital primary aphakia ClinVar PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:17893665 More... NCBI chr 6:164,130,638...164,133,218
Ensembl chr 6:164,132,034...164,133,011 		JBrowse link
G STIL STIL centriolar assembly protein ISO ClinVar Annotator: match by term: Congenital primary aphakia ClinVar PMID:28492532 NCBI chr 6:164,197,511...164,266,615
Ensembl chr 6:164,197,600...164,265,818 		JBrowse link
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VSX1 visual system homeobox 1 ISO ClinVar Annotator: match by term: Craniofacial anomalies and anterior segment dysgenesis syndrome OMIM
ClinVar		 PMID:11978762 PMID:15051220 PMID:16303937 PMID:21976959 PMID:25741868 More... NCBI chr17:30,848,497...30,856,014
Ensembl chr17:30,848,484...30,856,213 		JBrowse link
Peters anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP35 Rho GTPase activating protein 35 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:25741868 PMID:36450800 NCBI chr 6:52,711,463...52,841,295
Ensembl chr 6:52,711,901...52,841,288 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:25741868 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chr11:76,858,332...76,997,409
Ensembl chr11:76,858,356...76,997,322 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 More... NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683 		JBrowse link
G DAB1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr 6:154,156,595...155,374,403
Ensembl chr 6:154,936,460...155,374,399 		JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532 NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,987...29,230,077 		JBrowse link
G EPHB2 EPH receptor B2 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr 6:80,649,098...80,849,979
Ensembl chr 6:80,650,740...80,843,567 		JBrowse link
G FAT1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,457,187...8,580,715 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr 8:99,141,967...99,312,131
Ensembl chr 8:99,148,496...99,310,519 		JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:21931569 PMID:26893459 PMID:28492532 NCBI chr 1:207,535,811...207,804,525
Ensembl chr 1:207,641,011...207,801,952 		JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:8364574 PMID:9727514 PMID:9792406 PMID:10234503 PMID:12015275 More... NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,978,287...29,001,200 		JBrowse link
G PITRM1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr10:66,996,919...67,021,692
Ensembl chr10:66,996,954...67,047,235 		JBrowse link
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298 		JBrowse link
G PRPF8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr12:47,861,041...47,895,286
Ensembl chr12:47,861,043...47,895,190 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:1347096 PMID:25741868 PMID:26467025 PMID:26893459 PMID:28492532 More... NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223 		JBrowse link
G RARG retinoic acid receptor gamma ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr 5:18,436,267...18,458,625
Ensembl chr 5:18,436,270...18,458,624 		JBrowse link
Peters plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GLCT beta 3-glucosyltransferase ISO ClinVar Annotator: match by term: Peters plus syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 More... NCBI chr11:7,792,160...7,907,052
Ensembl chr11:7,792,368...7,907,049 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29584859 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    sensory system disease 6507
      eye disease 3325
        corneal disease 225
          sclerocornea 37
            Sclerocornea, Autosomal Dominant 0
            anterior segment dysgenesis + 34
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        Neurologic Manifestations 9418
          sensory system disease 6507
            eye disease 3325
              corneal disease 225
                sclerocornea 37
                  Sclerocornea, Autosomal Dominant 0
                  anterior segment dysgenesis + 34
paths to the root