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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 4930447C04Rik RIKEN cDNA 4930447C04 gene ISO ClinVar Annotator: match by term: Sclerocornea ClinVar NCBI chr12:72,926,967...72,964,742
Ensembl chr12:72,927,883...72,987,548
JBrowse link
G Rad54l RAD54 like (S. cerevisiae) IAGP OMIM:181700 MouseDO NCBI chr 4:115,951,458...115,980,875
Ensembl chr 4:115,951,461...115,980,887
JBrowse link
G Six6 sine oculis-related homeobox 6 ISO ClinVar Annotator: match by term: Sclerocornea ClinVar NCBI chr12:72,986,656...72,991,673
Ensembl chr12:72,986,666...72,991,673
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 7:66,487,387...66,802,373
Ensembl chr 7:66,489,483...66,802,919
JBrowse link
G Col4a1 collagen, type IV, alpha 1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesis
CTD
ClinVar
PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 More... NCBI chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490
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 1:14,239,177...14,381,259
Ensembl chr 1:14,239,178...14,380,459
JBrowse link
G Foxc1 forkhead box C1 IMP
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar
RGD
PMID:28492532 PMID:28513611 PMID:32499604 PMID:10767326 RGD:8662365 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459
JBrowse link
G Foxe3 forkhead box E3 ISO DNA:insertion:cds:c.943_944insG (human)
ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesis
ClinVar
RGD
PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 More... RGD:1598957 NCBI chr 4:114,781,640...114,783,264
Ensembl chr 4:114,782,344...114,783,210
JBrowse link
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:32499604 NCBI chr 3:96,820,882...96,833,367
Ensembl chr 3:96,820,882...96,833,336
JBrowse link
G Gm7298 predicted gene 7298 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis
CTD
ClinVar
PMID:25741868 PMID:27839872 PMID:32499604 NCBI chr 6:121,711,454...121,761,598
Ensembl chr 6:121,709,891...121,766,043
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor 1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:21465660 PMID:25741868 PMID:27108798 PMID:32499604 NCBI chr 6:108,190,044...108,528,077
Ensembl chr 6:108,190,057...108,528,070
JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:24281366 PMID:32499604 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709
JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:7581385 PMID:9437321 PMID:15591271 PMID:22569110 PMID:25741868 More... NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240
JBrowse link
G Pitx3 paired-like homeodomain transcription factor 3 ISO
IAGP
DNA:insertion:exon:c.657ins17bp
CTD Direct Evidence: marker/mechanism
MouseDO
CTD
RGD
PMID:9620774 PMID:18989383 PMID:18989383 RGD:11535067 NCBI chr19:46,123,720...46,136,764
Ensembl chr19:46,124,124...46,136,765
JBrowse link
G Pxdn peroxidasin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES
CTD
ClinVar
PMID:25741868 PMID:26694549 PMID:28492532 PMID:32499604 NCBI chr12:29,986,641...30,067,657
Ensembl chr12:29,987,607...30,067,657
JBrowse link
G Rbp4 retinol binding protein 4, plasma ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:25741868 NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729
JBrowse link
G Tsc1 TSC complex subunit 1 IAGP MouseDO NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179
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 4:114,781,640...114,783,264
Ensembl chr 4:114,782,344...114,783,210
JBrowse link
G Gbf1 golgi-specific brefeldin A-resistance 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 chr19:46,140,948...46,274,949
Ensembl chr19:46,140,948...46,274,949
JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 1 ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240
JBrowse link
G Pitx3 paired-like homeodomain transcription factor 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 chr19:46,123,720...46,136,764
Ensembl chr19:46,124,124...46,136,765
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 4:114,781,640...114,783,264
Ensembl chr 4:114,782,344...114,783,210
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 More... NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459
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 transcription factor 2 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 More... NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240
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, polypeptide 1 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 More... NCBI chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490
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 2:105,527,665...105,734,909
Ensembl chr 2:105,531,372...105,734,909
JBrowse link
G Frem1 Fras1 related extracellular matrix protein 1 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:21931569 PMID:26893459 PMID:28492532 NCBI chr 4:82,816,157...82,970,743
Ensembl chr 4:82,816,164...82,970,576
JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar NCBI chr 2:105,490,598...105,506,398 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 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709
JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240
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 chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
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, polypeptide 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 chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490
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 chr12:29,986,641...30,067,657
Ensembl chr12:29,987,607...30,067,657
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 interacting corepressor ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 8 ClinVar PMID:25741868 NCBI chr  X:11,902,976...12,026,769
Ensembl chr  X:11,902,979...12,026,594
JBrowse link
G Gm7298 predicted gene 7298 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 6:121,711,454...121,761,598
Ensembl chr 6:121,709,891...121,766,043
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 4:114,817,810...114,844,425
Ensembl chr 4:114,816,533...114,844,438
JBrowse link
G Foxe3 forkhead box E3 IAGP
ISO
OMIM:610256
ClinVar Annotator: match by term: Congenital primary aphakia
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:17893665 More... NCBI chr 4:114,781,640...114,783,264
Ensembl chr 4:114,782,344...114,783,210
JBrowse link
G Stil Scl/Tal1 interrupting locus ISO ClinVar Annotator: match by term: Congenital primary aphakia ClinVar PMID:28492532 NCBI chr 4:114,857,287...114,900,404
Ensembl chr 4:114,857,356...114,900,393
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11978762 PMID:15051220 PMID:16303937 PMID:21976959 PMID:25741868 More... NCBI chr 2:150,522,622...150,531,057
Ensembl chr 2:150,522,622...150,531,280
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 7:16,228,398...16,349,313
Ensembl chr 7:16,227,644...16,348,918
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:25741868 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
JBrowse link
G Col4a1 collagen, type IV, alpha 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO DNA:snp:cds:p.G61E (human)
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
RGD
PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 More... RGD:7800682 NCBI chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490
JBrowse link
G Dab1 disabled 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr 4:103,476,425...104,602,041
Ensembl chr 4:103,476,556...104,602,041
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 2:105,527,665...105,734,909
Ensembl chr 2:105,531,372...105,734,909
JBrowse link
G Ephb2 Eph receptor B2 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr 4:136,374,850...136,563,637
Ensembl chr 4:136,374,850...136,563,299
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294
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 3:38,939,867...39,066,134
Ensembl chr 3:38,941,089...39,066,134
JBrowse link
G Frem1 Fras1 related extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:21931569 PMID:26893459 PMID:28492532 NCBI chr 4:82,816,157...82,970,743
Ensembl chr 4:82,816,164...82,970,576
JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar NCBI chr 2:105,490,598...105,506,398 JBrowse link
G LOC110599581 Cyp1b1 5' regulatory region ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar NCBI chr17:80,022,357...80,028,601 JBrowse link
G Pax6 paired box 6 IAGP
ISO
DNA:snp:cds:pN64K (mouse)
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
CTD Direct Evidence: marker/mechanism
OMIM:604229
ClinVar
CTD
MouseDO
RGD
PMID:8364574 PMID:9727514 PMID:9792406 PMID:10234503 PMID:12015275 More... RGD:8551891 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709
JBrowse link
G Pitrm1 pitrilysin metallepetidase 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr13:6,598,158...6,630,194
Ensembl chr13:6,598,185...6,630,551
JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240
JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr11:75,377,603...75,400,273
Ensembl chr11:75,377,642...75,400,275
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 chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
JBrowse link
G Rarg retinoic acid receptor, gamma ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr15:102,143,373...102,165,891
Ensembl chr15:102,143,373...102,165,952
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
IAGP
ClinVar Annotator: match by term: Peters plus syndrome
OMIM:261540
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 More... NCBI chr 5:149,601,565...149,686,064
Ensembl chr 5:149,601,695...149,686,064
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 chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    sensory system disease 6747
      eye disease 3460
        corneal disease 242
          sclerocornea 39
            Sclerocornea, Autosomal Dominant 0
            anterior segment dysgenesis + 36
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        Neurologic Manifestations 9790
          sensory system disease 6747
            eye disease 3460
              corneal disease 242
                sclerocornea 39
                  Sclerocornea, Autosomal Dominant 0
                  anterior segment dysgenesis + 36
paths to the root