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
Accession: DOID:0060252
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
For additional species annotation, visit the
Alliance of Genome Resources .
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Rad54l
RAD54 like
ISS
OMIM:181700
MouseDO
NCBI chr 5:129,575,431...129,605,100
Ensembl chr 5:129,575,378...129,605,070
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Six6
SIX homeobox 6
ISO
ClinVar Annotator: match by term: Sclerocornea
ClinVar
NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
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Six6os1
Six6 opposite strand transcript 1
ISO
ClinVar Annotator: match by term: Sclerocornea
ClinVar
NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
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Adamts17
ADAM metallopeptidase with thrombospondin type 1 motif, 17
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar
PMID:32499604
NCBI chr 1:120,445,800...120,768,204
Ensembl chr 1:120,445,749...120,768,202
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Col4a1
collagen type IV alpha 1 chain
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar
PMID:25741868 PMID:32499604
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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Cpamd8
C3 and PZP-like, alpha-2-macroglobulin domain containing 8
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Anterior segment dysgenesis
CTD ClinVar
PMID:27839872 PMID:32499604
NCBI chr 4:155,332,827...155,413,098
Ensembl chr 4:155,332,827...155,413,117
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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:9497261 PMID:10655546 PMID:11403040 PMID:12036985 PMID:15342693 PMID:15475877 PMID:17591938 PMID:18470941 PMID:18622259 PMID:19179758 PMID:19234632 PMID:19643970 PMID:22004014 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24281366 PMID:25741868 PMID:26550445 PMID:27272408 PMID:27508083 PMID:27777502 PMID:28448622 PMID:28492532 PMID:30520782 PMID:32499604 PMID:32832252 More...
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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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 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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Foxc1
forkhead box C1
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar RGD
PMID:28492532 PMID:28513611 PMID:32499604 PMID:10767326
RGD:8662365
NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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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:16826526 PMID:20140963 PMID:20361012 PMID:24689660 PMID:25741868 PMID:26854927 PMID:28492532 PMID:29314435 PMID:32499604 PMID:34046667 PMID:11159941 More...
RGD:1598957
NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454
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Gja8
gap junction protein, alpha 8
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar
PMID:32499604
NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
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Itpr1
inositol 1,4,5-trisphosphate receptor, type 1
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar
PMID:25741868 PMID:27108798 PMID:32499604
NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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Pax6
paired box 6
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar
PMID:24281366 PMID:32499604
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Pitx2
paired-like homeodomain 2
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar
PMID:7581385 PMID:9437321 PMID:15591271 PMID:25741868 PMID:32499604 PMID:35882526 More...
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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Pitx3
paired-like homeodomain 3
ISO
DNA:insertion:exon:c.657ins17bp CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9620774 PMID:18989383 PMID:18989383
RGD:11535067
NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892
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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:26694549 PMID:28492532 PMID:32499604
NCBI chr 6:46,580,749...46,658,345
Ensembl chr 6:46,580,761...46,658,345
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Tsc1
TSC complex subunit 1
ISS
MouseDO
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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Foxe3
forkhead box E3
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis 1
ClinVar
PMID:28492532
NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454
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Gbf1
golgi brefeldin A resistant guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis 1
ClinVar
PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:17888164 PMID:18989383 PMID:21836522 PMID:24555714 PMID:25741868 PMID:28492532 PMID:29405783 More...
NCBI chr 1:245,018,535...245,147,052
Ensembl chr 1:245,018,568...245,147,042
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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 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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Pitx3
paired-like homeodomain 3
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis 1
OMIM ClinVar
PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:17888164 PMID:18989383 PMID:21836522 PMID:24555714 PMID:25741868 PMID:28492532 PMID:29405783 More...
NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892
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Foxe3
forkhead box E3
ISO
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 2
OMIM ClinVar
PMID:11159941 PMID:20140963 PMID:24689660 PMID:25741868 PMID:26854927 PMID:28492532 PMID:29314435 PMID:34046667 More...
NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454
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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 PMID:19668217 PMID:19793056 PMID:25741868 PMID:28492532 PMID:30143558 PMID:32475988 PMID:32832252 More...
NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 PMID:25741868 PMID:28166811 PMID:28492532 PMID:32499604 More...
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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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 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:12525557 PMID:14507861 PMID:15037581 PMID:15255109 PMID:15342693 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17363580 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:20151268 PMID:20198978 PMID:20664688 PMID:21081970 PMID:21168818 PMID:21572728 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:24227805 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25527694 PMID:25580891 PMID:25646030 PMID:25741868 PMID:25950505 PMID:25978063 PMID:26094658 PMID:26550445 PMID:26997785 PMID:27060699 PMID:27243976 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:28384041 PMID:28448622 PMID:28492532 PMID:28620713 PMID:29142762 PMID:29168043 PMID:29522511 PMID:29556725 PMID:30520782 PMID:30609409 PMID:30653986 PMID:30788381 PMID:32476818 PMID:32499604 PMID:32510024 PMID:32830442 PMID:32832252 PMID:32883240 PMID:34956319 More...
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5
ClinVar
PMID:28492532
NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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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 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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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:1954207 PMID:6988567 PMID:9651515 PMID:9727514 PMID:10441571 PMID:12868034 PMID:14561779 PMID:15086958 PMID:17417613 PMID:18776953 PMID:25741868 PMID:26604670 PMID:28492532 More...
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Pitx2
paired-like homeodomain 2
ISO
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5
ClinVar
PMID:15378534 PMID:25741868 PMID:26220699 PMID:28166811 PMID:28492532
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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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:9097971 PMID:9463332 PMID:9497261 PMID:10227395 PMID:10426814 PMID:10655546 PMID:10739169 PMID:10910054 PMID:11403040 PMID:11527932 PMID:11774072 PMID:11980847 PMID:12036985 PMID:12372064 PMID:12525557 PMID:15037581 PMID:15342693 PMID:15621878 PMID:16384942 PMID:16735994 PMID:17563717 PMID:17591938 PMID:17893647 PMID:18055790 PMID:18227148 PMID:18414103 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19234632 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:20151268 PMID:21081970 PMID:21572728 PMID:21600657 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22878448 PMID:22942166 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24281366 PMID:25091052 PMID:25109919 PMID:25527694 PMID:25646030 PMID:25741868 PMID:25950505 PMID:25978063 PMID:26550445 PMID:26550974 PMID:26997785 PMID:27060699 PMID:27243976 PMID:27272408 PMID:27508083 PMID:27820421 PMID:28448622 PMID:28492532 PMID:28644236 PMID:31024815 PMID:32224865 PMID:32476818 PMID:32499604 PMID:32832252 PMID:94927261 More...
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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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:21474777 PMID:21907015 PMID:24939590 PMID:25741868 PMID:26694549 PMID:28492532 More...
NCBI chr 6:46,580,749...46,658,345
Ensembl chr 6:46,580,761...46,658,345
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Cpamd8
C3 and PZP-like, alpha-2-macroglobulin domain containing 8
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis 8
OMIM ClinVar
PMID:25741868 PMID:27839872 PMID:32499604
NCBI chr 4:155,332,827...155,413,098
Ensembl chr 4:155,332,827...155,413,117
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Foxe3
forkhead box E3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital primary aphakia
CTD ClinVar
PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:17893665 PMID:19708017 PMID:20140963 PMID:20361012 PMID:20806047 PMID:21150893 PMID:24033266 PMID:24033328 PMID:24689660 PMID:25148791 PMID:25504734 PMID:25741868 PMID:26854927 PMID:26995144 PMID:27218149 PMID:28492532 PMID:29136273 PMID:29314435 PMID:29878917 PMID:32499604 PMID:32976546 PMID:34046667 More...
NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454
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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
NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869
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Arhgap35
Rho GTPase activating protein 35
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:25741868 PMID:36450800
NCBI chr 1:77,202,436...77,319,298
Ensembl chr 1:77,202,436...77,319,298
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Bmp4
bone morphogenetic protein 4
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:25741868
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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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 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:12525557 PMID:14507861 PMID:15037581 PMID:15255109 PMID:15342693 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17363580 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:20151268 PMID:20198978 PMID:20664688 PMID:21081970 PMID:21168818 PMID:21572728 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:24227805 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25527694 PMID:25580891 PMID:25646030 PMID:25741868 PMID:25950505 PMID:25978063 PMID:26094658 PMID:26550445 PMID:26997785 PMID:27060699 PMID:27243976 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:28384041 PMID:28448622 PMID:28492532 PMID:28620713 PMID:29142762 PMID:29168043 PMID:29522511 PMID:29556725 PMID:30520782 PMID:30609409 PMID:30653986 PMID:30788381 PMID:32476818 PMID:32499604 PMID:32510024 PMID:32830442 PMID:32832252 PMID:32883240 PMID:34956319 PMID:15621878 More...
RGD:7800682
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Dab1
DAB adaptor protein 1
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:26893459
NCBI chr 5:118,392,953...119,513,625
Ensembl chr 5:119,140,533...119,510,552
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:28492532
NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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Ephb2
Eph receptor B2
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:26893459
NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
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Fat1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:26893459 PMID:28492532
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Fat4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:26893459 PMID:28492532
NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707
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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 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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Pax6
paired box 6
ISO
DNA:snp:cds:pN64K (mouse) ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 PMID:24281366 PMID:25741868 PMID:26604670 PMID:28492532 PMID:32499604 PMID:19345209 More...
RGD:8551891
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Pitrm1
pitrilysin metallopeptidase 1
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:26893459 PMID:28492532
NCBI chr17:63,795,670...63,827,313
Ensembl chr17:63,795,671...63,839,907
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Pitx2
paired-like homeodomain 2
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:15378534 PMID:25741868 PMID:26220699 PMID:28166811 PMID:28492532
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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Prpf8
pre-mRNA processing factor 8
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:26893459
NCBI chr10:60,331,494...60,354,606
Ensembl chr10:60,331,494...60,354,606
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:1347096 PMID:26893459 PMID:28492532
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Rarg
retinoic acid receptor, gamma
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:26893459
NCBI chr 7:133,367,833...133,390,301
Ensembl chr 7:133,367,833...133,390,177
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B3glct
beta 3-glucosyltransferase
ISO
ClinVar Annotator: match by term: Peters plus syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 PMID:18798333 PMID:19796186 PMID:20301637 PMID:23161355 PMID:23213277 PMID:23889335 PMID:25741868 PMID:26684045 PMID:28492532 PMID:32204707 More...
NCBI chr12:5,255,521...5,346,998
Ensembl chr12:5,255,740...5,346,810
G
Fgf8
fibroblast growth factor 8
ISO
ClinVar Annotator: match by term: Peters plus syndrome
ClinVar
PMID:25741868 PMID:29584859
NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all