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.
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ADAMTSL4
ADAMTS like 4
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:20564469 PMID:25741868 PMID:28492532 PMID:28642162 PMID:31837199
NCBI chr17:59,736,628...59,747,689
Ensembl chr17:59,736,534...59,746,980
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ALG6
ALG6 alpha-1,3-glucosyltransferase
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868
NCBI chr 5:46,717,779...46,784,488
Ensembl chr 5:46,718,786...46,783,809
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AXIN2
axin 2
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:14,559,476...14,588,950
Ensembl chr 9:14,559,388...14,588,530
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CLASP1
cytoplasmic linker associated protein 1
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:32628740
NCBI chr19:28,563,189...28,830,503
Ensembl chr19:28,595,040...28,827,645
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CNPY2
canopy FGF signaling regulator 2
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868
NCBI chr10:617,633...620,839
Ensembl chr10:617,631...620,450
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CTNNA1
catenin alpha 1
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:31292255
NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091
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CYP26B1
cytochrome P450 family 26 subfamily B member 1
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868 PMID:31837199
NCBI chr17:50,633,397...50,653,882
Ensembl chr17:50,633,413...50,653,894
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DHRS3
dehydrogenase/reductase 3
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868
NCBI chr 2:83,826,361...83,865,412
Ensembl chr 2:83,826,374...83,865,426
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EFCAB7
EF-hand calcium binding domain 7
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868
NCBI chr 5:46,598,411...46,645,651
Ensembl chr 5:46,597,432...46,645,592
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ERF
ETS2 repressor factor
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868 PMID:31837199
NCBI chr 1:112,117,338...112,124,464
Ensembl chr 1:112,117,141...112,124,077
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FBN1
fibrillin 1
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868 PMID:31837199
NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
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FBN2
fibrillin 2
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:17,311,238...17,551,536
Ensembl chr11:17,311,226...17,551,536
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FGFR1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:9536098 PMID:10629055 PMID:12627230 PMID:15365636 PMID:15605412 PMID:16764984 PMID:17154279 PMID:17360555 PMID:17576681 PMID:17963255 PMID:18160472 PMID:18985070 PMID:19707180 PMID:20696889 PMID:22378383 PMID:23329143 PMID:23348397 PMID:23657145 PMID:24031091 PMID:25064402 PMID:25383892 PMID:25425165 PMID:25741868 PMID:25759380 PMID:26467025 PMID:26931467 PMID:27884173 PMID:28492532 More...
NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
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FGFR2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:7607643 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8650126 PMID:8755573 PMID:8957519 PMID:11781872 PMID:15316116 PMID:16158432 PMID:16418739 PMID:16838304 PMID:17264867 PMID:20133659 PMID:22558232 PMID:24127277 PMID:24728327 PMID:25271085 PMID:25425289 PMID:25741868 PMID:26325558 PMID:26429889 PMID:26467025 PMID:27240702 PMID:28492532 More...
NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
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FGFR3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:7493034 PMID:8723106 PMID:8841188 PMID:8880573 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10094188 PMID:10861678 PMID:11424131 PMID:11426459 PMID:11746040 PMID:14613973 PMID:15241680 PMID:15915095 PMID:16501574 PMID:17552943 PMID:17935505 PMID:18000976 PMID:18976668 PMID:19215249 PMID:20199409 PMID:20301588 PMID:20301628 PMID:21536014 PMID:22016144 PMID:22622662 PMID:23437153 PMID:24728327 PMID:24864036 PMID:25271085 PMID:25326635 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:31016899 PMID:32238909 More...
NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
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FOXD3
forkhead box D3
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868
NCBI chr 5:46,818,856...46,821,915
Ensembl chr 5:46,819,821...46,821,693
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GLI2
GLI family zinc finger 2
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:31292255
NCBI chr19:29,128,401...29,383,324
Ensembl chr19:29,130,227...29,383,658
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GLI3
GLI family zinc finger 3
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:21326280 PMID:22903559 PMID:24736735 PMID:25741868
NCBI chr18:7,800,817...8,071,531
Ensembl chr18:7,801,394...8,068,132
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GPC4
glypican 4
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:31292255
NCBI chr X:104,098,316...104,215,883
Ensembl chr X:104,100,571...104,216,103
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GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868
NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680
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HAPLN2
hyaluronan and proteoglycan link protein 2
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868
NCBI chr 7:41,340,493...41,346,607
Ensembl chr 7:41,341,883...41,344,117
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IGF1R
insulin like growth factor 1 receptor
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868 PMID:31837199
NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
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IL11RA
interleukin 11 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868 PMID:31837199
NCBI chr11:51,324,915...51,341,981
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ITGB3BP
integrin subunit beta 3 binding protein
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868
NCBI chr 5:46,645,858...46,716,170
Ensembl chr 5:46,681,412...46,701,509
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KAT6A
lysine acetyltransferase 6A
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868 PMID:30245513 PMID:31292255
NCBI chr16:23,604,629...23,717,047
Ensembl chr16:23,604,200...23,724,252
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MAN2B1
mannosidase alpha class 2B member 1
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868
NCBI chr20:49,446,162...49,461,812
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MEGF8
multiple EGF like domains 8
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:23063620 PMID:25741868 PMID:28914635 PMID:29168297
NCBI chr 1:112,020,344...112,063,120
Ensembl chr 1:112,021,960...112,024,773
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MSX1
msh homeobox 1
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:31837199
NCBI chr 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447
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MSX2
msh homeobox 2
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
NCBI chr 4:38,002,724...38,007,407
Ensembl chr 4:38,002,428...38,007,407
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NPR2
natriuretic peptide receptor 2
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
NCBI chr11:52,283,680...52,339,247
Ensembl chr11:52,321,590...52,339,249
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PGM1
phosphoglucomutase 1
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868
NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622
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PRRX1
paired related homeobox 1
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 PMID:25741868 PMID:37154149 More...
NCBI chr 7:28,065,570...28,138,734
Ensembl chr 7:28,068,711...28,138,787
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PTCH1
patched 1
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31837199 More...
NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
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RUNX2
RUNX family transcription factor 2
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868
NCBI chr12:13,723,535...13,842,565
Ensembl chr12:13,628,539...13,840,785 Ensembl chr12:13,628,539...13,840,785
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SOX11
SRY-box transcription factor 11
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:31292255
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SPECC1L
sperm antigen with calponin homology and coiled-coil domains 1 like
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:31837199
NCBI chr26:27,994,278...28,127,383
Ensembl chr26:28,025,987...28,125,695
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TCF12
transcription factor 12
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:23354436 PMID:25741868 PMID:28492532 PMID:30038786 PMID:31837199 PMID:32620954 More...
NCBI chr30:22,108,841...22,473,224
Ensembl chr30:22,108,371...22,471,275
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TFAP2B
transcription factor AP-2 beta
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:31292255
NCBI chr12:18,544,176...18,574,300
Ensembl chr12:18,544,446...18,572,902
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TGFBR1
transforming growth factor beta receptor 1
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868 PMID:31837199
NCBI chr11:56,191,383...56,223,042
Ensembl chr11:56,161,772...56,218,594
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TRPS1
transcriptional repressor GATA binding 1
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
NCBI chr13:15,017,180...15,273,177
Ensembl chr13:15,022,652...15,273,666
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WDR19
WD repeat domain 19
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:31837199
NCBI chr 3:73,115,560...73,213,823
Ensembl chr 3:73,137,250...73,221,512
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ZNF462
zinc finger protein 462
ISO
ClinVar Annotator: match by term: Craniosynostosis syndrome
ClinVar
PMID:28513610
NCBI chr11:62,398,415...62,535,289
Ensembl chr11:62,450,060...62,535,121
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