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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:Craniosynostosis Syndrome, Autosomal Recessive
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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 chr 2:185,924,582...185,936,039
Ensembl chr 2:185,924,594...185,935,796 		JBrowse link
G Alg6 ALG6, alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 5:119,520,415...119,606,365
Ensembl chr 5:119,520,430...119,606,659 		JBrowse link
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:94,393,379...94,426,579
Ensembl chr10:94,395,909...94,426,575 		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 chr13:32,046,362...32,267,954
Ensembl chr13:32,046,444...32,267,924 		JBrowse link
G Cnpy2 canopy FGF signaling regulator 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 7:1,332,293...1,338,081
Ensembl chr 7:1,334,335...1,340,333 		JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,999,820...27,135,007 		JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 4:118,599,356...118,616,176
Ensembl chr 4:118,599,356...118,616,176 		JBrowse link
G Dhrs3 dehydrogenase/reductase 3 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 5:162,031,853...162,065,655
Ensembl chr 5:162,031,386...162,065,653 		JBrowse link
G Efcab7 EF-hand calcium binding domain 7 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 5:119,640,841...119,691,566
Ensembl chr 5:119,640,761...119,691,563 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191 		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 chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		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 chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		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 chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
G Foxd3 forkhead box D3 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 5:119,450,532...119,452,898
Ensembl chr 5:119,450,394...119,452,786 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		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 chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198 		JBrowse link
G Gpc4 glypican 4 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr  X:136,565,536...136,676,142
Ensembl chr  X:136,565,591...136,676,057 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:170,322,617...170,773,570 		JBrowse link
G Hapln2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 2:175,786,767...175,794,515
Ensembl chr 2:175,789,009...175,794,438 		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 1:130,959,787...131,248,664
Ensembl chr 1:130,959,997...131,248,664 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:61,727,931...61,737,264 		JBrowse link
G Itgb3bp integrin subunit beta 3 binding protein ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 5:119,575,657...119,640,974
Ensembl chr 5:119,575,248...119,640,997 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:30245513 PMID:31292255 NCBI chr16:75,787,411...75,868,584
Ensembl chr16:75,787,411...75,866,099 		JBrowse link
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr19:39,959,964...39,979,299
Ensembl chr19:39,959,965...39,979,246 		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 1:90,030,057...90,079,423
Ensembl chr 1:90,030,388...90,079,422 		JBrowse link
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr14:77,185,802...77,189,735
Ensembl chr14:77,185,802...77,189,735 		JBrowse link
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr17:11,102,284...11,107,949
Ensembl chr17:11,102,247...11,107,945 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:62,678,367...62,697,343 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 5:119,710,734...119,770,159
Ensembl chr 5:119,710,737...119,770,159 		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 chr13:78,136,783...78,205,379
Ensembl chr13:78,136,783...78,204,058 		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 chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:23,664,952...23,990,027 		JBrowse link
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr 6:49,736,773...49,738,794
Ensembl chr 6:49,736,304...49,738,691 		JBrowse link
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 chr20:13,337,399...13,443,080
Ensembl chr20:13,339,108...13,443,079 		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 chr 8:81,371,201...81,682,337
Ensembl chr 8:81,373,321...81,679,922 		JBrowse link
G Tfap2b transcription factor AP-2 beta ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr 9:29,282,703...29,312,568
Ensembl chr 9:29,282,825...29,312,568 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:83,811,497...84,031,786 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,397,835...43,459,939 		JBrowse link
G Zfp462 zinc finger protein 462 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:28513610 NCBI chr 5:74,465,383...74,606,020
Ensembl chr 5:74,468,643...74,606,020 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    Developmental Disease 14695
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13757
        Congenital Abnormalities 7974
          Multiple Abnormalities 3872
            Craniosynostosis Syndrome, Autosomal Recessive 42
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      musculoskeletal system disease 8480
        connective tissue disease 5931
          bone disease 4372
            bone development disease 2347
              dysostosis 641
                synostosis 403
                  craniosynostosis 338
                    Craniosynostosis Syndrome, Autosomal Recessive 42
paths to the root