Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Craniosynostosis Syndrome, Autosomal Recessive
go back to main search page
Accession:DOID:9008216 term browser browse the term
Synonyms:exact_synonym: Craniosynostosis Syndrome
 primary_id: MESH:C564700
 alt_id: MIM:606529



show annotations for term's descendants           Sort by:
Craniosynostosis Syndrome, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
JBrowse link
G 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 More... NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
JBrowse link
G 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 More... NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G PRRX1 paired related homeobox 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 PMID:25741868 More... NCBI chr 7:28,065,570...28,138,734
Ensembl chr 7:28,068,711...28,138,787
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
JBrowse link
G 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
JBrowse link
G SOX11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255
G 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
JBrowse link
G TCF12 transcription factor 12 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:23354436 PMID:25741868 PMID:28492532 PMID:30038786 PMID:31837199 More... NCBI chr30:22,108,841...22,473,224
Ensembl chr30:22,108,371...22,471,275
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15755
    Developmental Disease 13757
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12836
        Congenital Abnormalities 7761
          Multiple Abnormalities 3800
            Craniosynostosis Syndrome, Autosomal Recessive 42
Path 2
Term Annotations click to browse term
  disease 15755
    disease of anatomical entity 15375
      musculoskeletal system disease 7925
        connective tissue disease 5435
          bone disease 3919
            bone development disease 2358
              dysostosis 636
                synostosis 397
                  craniosynostosis 334
                    Craniosynostosis Syndrome, Autosomal Recessive 42
paths to the root