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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:Crouzon syndrome
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Accession:DOID:2339 term browser browse the term
Definition:A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. (DO)
Synonyms:exact_synonym: CFD1;   Craniofacial Dysarthrosis;   Craniofacial Dysostosis;   Craniofacial Dysostosis Syndrome;   Craniofacial Dysostosis Syndromes;   Craniofacial Dysostosis Type 1;   Craniofacial Dysostosis, Type I;   Crouzon Craniofacial Dysostosis;   Crouzon Disease;   Crouzon's disease;   Crouzons disease;   craniofacial dysarthroses;   craniofacial dysostoses
 primary_id: MESH:D003394
 alt_id: OMIM:123500
 xref: GARD:6206;   ICD10CM:Q75.1;   NCI:C84653
For additional species annotation, visit the Alliance of Genome Resources.

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Crouzon syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Craniofacial dysostosis | ClinVar Annotator: match by term: Craniofacial dysostosis type 1 | ClinVar Annotator: match by term: Crouzon disease | ClinVar Annotator: match by term: Crouzon syndrome OMIM
ClinVar		 PMID:1519658 PMID:1641873 PMID:1697263 PMID:2172978 PMID:4078868 More... NCBI chrNW_004955551:2,321,190...2,427,000 JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Crouzon disease ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590 		JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Crouzon syndrome ClinVar PMID:25741868 NCBI chrNW_004955415:4,138,495...4,174,735
Ensembl chrNW_004955415:4,140,262...4,174,762 		JBrowse link
acrofacial dysostosis Cincinnati type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1a RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type | ClinVar Annotator: match by term: POLR1A-related condition OMIM
ClinVar		 PMID:25741868 PMID:25913037 PMID:28492532 PMID:34341987 PMID:37075751 NCBI chrNW_004955424:1,507,935...1,595,068
Ensembl chrNW_004955424:1,508,037...1,593,108 		JBrowse link
acromelic frontonasal dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zswim6 zinc finger SWIM-type containing 6 ISO ClinVar Annotator: match by term: Acromelic frontonasal dysostosis OMIM
ClinVar		 PMID:25105228 PMID:25741868 PMID:26706854 PMID:28492532 NCBI chrNW_004955446:7,010,005...7,188,763
Ensembl chrNW_004955446:7,011,836...7,188,521 		JBrowse link
autosomal recessive craniometaphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive OMIM
ClinVar		 PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095 		JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome OMIM
ClinVar		 PMID:25488817 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 More... NCBI chrNW_004955559:1,085,033...1,102,501
Ensembl chrNW_004955559:1,084,182...1,103,143 		JBrowse link
Craniofacial Microsomia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxi3 forkhead box I3 ISO ClinVar Annotator: match by term: Craniofacial microsomia 2 | ClinVar Annotator: match by term: FOXI3-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:36260083 PMID:37041148 NCBI chrNW_004955424:356,951...358,221 JBrowse link
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Crouzon syndrome with acanthosis nigricans | ClinVar Annotator: match by term: Crouzon syndrome-acanthosis nigricans syndrome OMIM
ClinVar		 PMID:1908846 PMID:7493034 PMID:7647778 PMID:7649548 PMID:7670477 More... NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590 		JBrowse link
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsr2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis OMIM
ClinVar		 PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chrNW_004955475:1,698,926...1,703,404
Ensembl chrNW_004955475:1,698,136...1,703,404 		JBrowse link
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:17483715 PMID:19816270 PMID:20116044 PMID:23718193 PMID:24675553 More... NCBI chrNW_004955458:3,632,675...3,634,565
Ensembl chrNW_004955458:3,632,699...3,634,566 		JBrowse link
G Rps28 ribosomal protein S28 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis OMIM
ClinVar		 PMID:24942156 PMID:25741868 NCBI chrNW_004955563:1,073,556...1,074,149
Ensembl chrNW_004955563:1,073,774...1,074,077 		JBrowse link
G Tsr2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144 PMID:24942156 NCBI chrNW_004955475:1,698,926...1,703,404
Ensembl chrNW_004955475:1,698,136...1,703,404 		JBrowse link
distal arthrogryposis type 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102003853 myosin-3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon) OMIM
ClinVar		 PMID:16642020 PMID:18695058 PMID:19142688 PMID:25256237 PMID:25741868 More... NCBI chrNW_004955467:6,561,609...6,583,228
Ensembl chrNW_004955467:6,561,617...6,583,089 		JBrowse link
Freeman-Sheldon syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102003853 myosin-3 ISO ClinVar Annotator: match by term: Craniocarpotarsal dysplasia | ClinVar Annotator: match by term: Freeman-Sheldon syndrome ClinVar PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:18695058 More... NCBI chrNW_004955467:6,561,609...6,583,228
Ensembl chrNW_004955467:6,561,617...6,583,089 		JBrowse link
Goldenhar syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxi3 forkhead box I3 ISO ClinVar Annotator: match by term: Craniofacial microsomia | ClinVar Annotator: match by term: Hemifacial microsomia ClinVar PMID:28492532 PMID:36260083 PMID:37041148 NCBI chrNW_004955424:356,951...358,221 JBrowse link
G Frk fyn related Src family tyrosine kinase ISO ClinVar Annotator: match by term: Hemifacial microsomia ClinVar NCBI chrNW_004955526:736,446...892,331
Ensembl chrNW_004955526:736,116...895,170 		JBrowse link
G Pax1 paired box 1 ISO ClinVar Annotator: match by term: Craniofacial microsomia ClinVar NCBI chrNW_004955415:29,413,253...29,420,682
Ensembl chrNW_004955415:29,413,253...29,420,682 		JBrowse link
G Sf3b2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Hemifacial microsomia OMIM
ClinVar		 PMID:7811205 PMID:34344887 NCBI chrNW_004955422:19,242,041...19,266,479
Ensembl chrNW_004955422:19,240,974...19,257,104 		JBrowse link
G Zic3 Zic family member 3 ISO OMIM:164210 MouseDO NCBI chrNW_004955489:7,560,684...7,571,739
Ensembl chrNW_004955489:7,560,684...7,571,892 		JBrowse link
G Zyg11b zyg-11 family member B, cell cycle regulator ISO ClinVar Annotator: match by term: Hemifacial microsomia ClinVar PMID:25741868 PMID:32738032 NCBI chrNW_004955464:6,354,510...6,404,668
Ensembl chrNW_004955464:6,354,510...6,405,041 		JBrowse link
Mandibulofacial Dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human) RGD PMID:23188108 RGD:10045556 NCBI chrNW_004955451:17,655,659...17,690,117
Ensembl chrNW_004955451:17,653,125...17,690,117 		JBrowse link
G Polr1b RNA polymerase I subunit B ISO ClinVar Annotator: match by term: Treacher Collins-Franceschetti syndrome ClinVar PMID:25741868 PMID:31649276 NCBI chrNW_004955470:1,714,156...1,737,749
Ensembl chrNW_004955470:1,714,156...1,737,820 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131976 NCBI chrNW_004955437:9,346,397...9,350,591
Ensembl chrNW_004955437:9,346,397...9,350,591 		JBrowse link
G Polr1d RNA polymerase I and III subunit D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131976 NCBI chrNW_004955497:7,029,556...7,030,128
Ensembl chrNW_004955497:7,029,557...7,029,931 		JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16938878 NCBI chrNW_004955415:4,138,495...4,174,735
Ensembl chrNW_004955415:4,140,262...4,174,762 		JBrowse link
mandibulofacial dysostosis with alopecia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednra endothelin receptor type A ISO ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia OMIM
ClinVar		 PMID:16116593 PMID:20583178 PMID:25741868 PMID:25772936 PMID:28492532 NCBI chrNW_004955428:3,062,303...3,114,761
Ensembl chrNW_004955428:3,062,303...3,114,761 		JBrowse link
Mandibulofacial Dysostosis with Mental Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Mandibulofacial dysostosis with mental deficiency ClinVar PMID:9973280 PMID:10396622 PMID:11017087 PMID:11527935 PMID:11726554 More... NCBI chrNW_004955423:612,098...738,702
Ensembl chrNW_004955423:612,098...736,035 		JBrowse link
mandibulofacial dysostosis, Guion-Almeida type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: EFTUD2-related condition | ClinVar Annotator: match by term: Mandibulofacial dysostosis-microcephaly syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16760738 PMID:17576681 PMID:19334086 More... NCBI chrNW_004955451:17,655,659...17,690,117
Ensembl chrNW_004955451:17,653,125...17,690,117 		JBrowse link
Nager acrofacial dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sf3b4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Nager syndrome OMIM
ClinVar		 PMID:22541558 PMID:23568615 PMID:24003905 PMID:25741868 PMID:27622494 More... NCBI chrNW_004955413:826,190...830,502
Ensembl chrNW_004955413:826,190...832,496 		JBrowse link
oblique facial clefting 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1 like ISO ClinVar Annotator: match by term: Oculomaxillofacial dysostosis OMIM
ClinVar		 PMID:21703590 PMID:25741868 PMID:28492532 NCBI chrNW_004955455:7,739,105...7,879,489
Ensembl chrNW_004955455:7,739,463...7,882,427 		JBrowse link
Patterson Stevenson Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome OMIM
ClinVar		 PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 More... NCBI chrNW_004955491:9,171,462...9,217,996 JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622 		JBrowse link
G Rnf32 ring finger protein 32 ISO ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chrNW_004955491:9,128,998...9,154,082
Ensembl chrNW_004955491:9,130,214...9,153,851 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chrNW_004955491:8,647,133...8,657,381 JBrowse link
postaxial acrofacial dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhodh dihydroorotate dehydrogenase (quinone) ISO ClinVar Annotator: match by term: Miller syndrome OMIM
ClinVar		 PMID:19915526 PMID:20220176 PMID:21346561 PMID:22692683 PMID:22967083 More... NCBI chrNW_004955484:4,699,743...4,713,466
Ensembl chrNW_004955484:4,699,722...4,713,466 		JBrowse link
Treacher Collins syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1b RNA polymerase I subunit B ISO ClinVar Annotator: match by term: Treacher Collins syndrome ClinVar PMID:25741868 PMID:31649276 NCBI chrNW_004955470:1,714,156...1,737,749
Ensembl chrNW_004955470:1,714,156...1,737,820 		JBrowse link
G Polr1d RNA polymerase I and III subunit D ISO ClinVar Annotator: match by term: Treacher Collins syndrome ClinVar PMID:24603435 NCBI chrNW_004955497:7,029,556...7,030,128
Ensembl chrNW_004955497:7,029,557...7,029,931 		JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Treacher Collins Syndrome, Dominant | ClinVar Annotator: match by term: Treacher Collins syndrome ClinVar PMID:8894686 PMID:22317976 PMID:25741868 PMID:28492532 NCBI chrNW_004955415:4,138,495...4,174,735
Ensembl chrNW_004955415:4,140,262...4,174,762 		JBrowse link
Treacher Collins syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: TCOF1-related condition | ClinVar Annotator: match by term: Treacher Collins syndrome 1 OMIM
ClinVar		 PMID:8563749 PMID:8894686 PMID:9042910 PMID:9096354 PMID:9536098 More... NCBI chrNW_004955415:4,138,495...4,174,735
Ensembl chrNW_004955415:4,140,262...4,174,762 		JBrowse link
Treacher Collins syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1d RNA polymerase I and III subunit D ISO ClinVar Annotator: match by term: Treacher Collins syndrome 2 OMIM
ClinVar		 PMID:21131976 PMID:24603435 PMID:25741868 PMID:28492532 PMID:34397304 NCBI chrNW_004955497:7,029,556...7,030,128
Ensembl chrNW_004955497:7,029,557...7,029,931 		JBrowse link
Treacher Collins syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: POLR1C-Related Disorders | ClinVar Annotator: match by term: Treacher Collins Syndrome, Recessive | ClinVar Annotator: match by term: Treacher Collins syndrome 3 OMIM
ClinVar		 PMID:610060 PMID:9536098 PMID:11013442 PMID:17576681 PMID:21131976 More... NCBI chrNW_004955437:9,346,397...9,350,591
Ensembl chrNW_004955437:9,346,397...9,350,591 		JBrowse link
Treacher Collins syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1b RNA polymerase I subunit B ISO ClinVar Annotator: match by term: Treacher Collins syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:31649276 NCBI chrNW_004955470:1,714,156...1,737,749
Ensembl chrNW_004955470:1,714,156...1,737,820 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      bone development disease 2149
        dysostosis 534
          synostosis 349
            craniosynostosis 292
              Crouzon syndrome 30
                Basel-Vanagaite-Smirin-Yosef syndrome 1
                Bazopoulou Kyrkanidou Syndrome 0
                Cote Katsantoni Syndrome 0
                Craniofacial Dysostosis with Diaphyseal Hyperplasia 0
                Crouzon syndrome-acanthosis nigricans syndrome 1
                Freeman-Sheldon syndrome + 1
                Hallermann-Streiff syndrome + 0
                Hypomandibular Faciocranial Dysostosis 0
                Kaplan Plauchu Fitch Syndrome 0
                Mandibulofacial Dysostosis + 24
                Maxillofacial Dysostosis 0
                Tricho-Dento-Osseous Syndrome 1 0
                Whistling Face Syndrome, Recessive Form 0
                autosomal recessive craniometaphyseal dysplasia 1
                oblique facial clefting 1 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      musculoskeletal system disease 7250
        connective tissue disease 4916
          bone disease 3596
            bone development disease 2149
              dysostosis 534
                synostosis 349
                  craniosynostosis 292
                    Crouzon syndrome 30
                      Basel-Vanagaite-Smirin-Yosef syndrome 1
                      Bazopoulou Kyrkanidou Syndrome 0
                      Cote Katsantoni Syndrome 0
                      Craniofacial Dysostosis with Diaphyseal Hyperplasia 0
                      Crouzon syndrome-acanthosis nigricans syndrome 1
                      Freeman-Sheldon syndrome + 1
                      Hallermann-Streiff syndrome + 0
                      Hypomandibular Faciocranial Dysostosis 0
                      Kaplan Plauchu Fitch Syndrome 0
                      Mandibulofacial Dysostosis + 24
                      Maxillofacial Dysostosis 0
                      Tricho-Dento-Osseous Syndrome 1 0
                      Whistling Face Syndrome, Recessive Form 0
                      autosomal recessive craniometaphyseal dysplasia 1
                      oblique facial clefting 1 1
paths to the root