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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: MIM: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_004624737:25,052,698...25,158,346
Ensembl chrNW_004624737:25,052,606...25,158,529 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Craniofacial dysostosis ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		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:9536098 PMID:17576681 PMID:25741868 PMID:25913037 PMID:28051070 More... NCBI chrNW_004624749:17,138,352...17,216,039
Ensembl chrNW_004624749:17,138,476...17,215,124 		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_004624815:8,481,026...8,673,090
Ensembl chrNW_004624815:8,482,855...8,673,090 		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_004624798:9,358,996...9,364,413
Ensembl chrNW_004624798:9,359,004...9,364,313 		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:25527630 PMID:25741868 PMID:25792360 PMID:28170084 More... NCBI chrNW_004624832:4,483,599...4,503,937
Ensembl chrNW_004624832:4,484,359...4,503,863 		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 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:36260083 PMID:37041148 NCBI chrNW_004624749:16,033,754...16,041,679
Ensembl chrNW_004624749:16,033,767...16,039,249 		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: CROUZONODERMOSKELETAL SYNDROME | 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_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		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 | ClinVar Annotator: match by term: TSR2-related condition OMIM
ClinVar		 PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chrNW_004624909:2,311,494...2,316,358
Ensembl chrNW_004624909:2,310,718...2,315,538 		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_004624802:12,001,645...12,004,370
Ensembl chrNW_004624802:12,001,330...12,004,643 		JBrowse link
G Rps28 ribosomal protein S28 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | ClinVar Annotator: match by term: RPS28-related condition OMIM
ClinVar		 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chrNW_004624828:1,116,016...1,116,908
Ensembl chrNW_004624828:1,116,157...1,116,686 		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_004624909:2,311,494...2,316,358
Ensembl chrNW_004624909:2,310,718...2,315,538 		JBrowse link
distal arthrogryposis type 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101698672 myosin-3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon) OMIM
ClinVar		 PMID:16199547 PMID:16642020 PMID:18695058 PMID:19142688 PMID:25256237 More... NCBI chrNW_004624786:12,987,230...13,008,404
Ensembl chrNW_004624786:12,987,376...13,009,135 		JBrowse link
Freeman-Sheldon syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101698672 myosin-3 ISO ClinVar Annotator: match by term: Craniocarpotarsal dysplasia | ClinVar Annotator: match by term: Freeman-Sheldon syndrome | ClinVar Annotator: match by term: WHISTLING FACE-WINDMILL VANE HAND SYNDROME ClinVar PMID:9536098 PMID:16199547 PMID:16642020 PMID:17576681 PMID:18414213 More... NCBI chrNW_004624786:12,987,230...13,008,404
Ensembl chrNW_004624786:12,987,376...13,009,135 		JBrowse link
Goldenhar syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chaf1a chromatin assembly factor 1 subunit A ISO ClinVar Annotator: match by term: Craniofacial microsomia ClinVar NCBI chrNW_004624828:5,266,676...5,302,061
Ensembl chrNW_004624828:5,266,932...5,302,067 		JBrowse link
G Foxi3 forkhead box I3 ISO ClinVar Annotator: match by term: Craniofacial microsomia | ClinVar Annotator: match by term: Craniofacial microsomia 1 ClinVar PMID:28492532 PMID:36260083 PMID:37041148 NCBI chrNW_004624749:16,033,754...16,041,679
Ensembl chrNW_004624749:16,033,767...16,039,249 		JBrowse link
G Frk fyn related Src family tyrosine kinase ISO ClinVar Annotator: match by term: Craniofacial microsomia 1 ClinVar NCBI chrNW_004624856:2,485,044...2,580,784
Ensembl chrNW_004624856:2,489,898...2,575,101 		JBrowse link
G Pax1 paired box 1 ISO ClinVar Annotator: match by term: Craniofacial microsomia ClinVar NCBI chrNW_004624741:22,009,733...22,017,377
Ensembl chrNW_004624741:22,007,778...22,017,325 		JBrowse link
G Sf3b2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Craniofacial microsomia 1 OMIM
ClinVar		 PMID:7811205 PMID:25741868 PMID:34344887 NCBI chrNW_004624767:20,326,499...20,340,204
Ensembl chrNW_004624767:20,326,499...20,340,164 		JBrowse link
G Zic3 Zic family zinc finger 3 ISO OMIM:164210 MouseDO NCBI chrNW_004624808:9,201,025...9,212,192
Ensembl chrNW_004624808:9,200,952...9,212,093 		JBrowse link
G Zyg11b zyg-11 family member B, cell cycle regulator ISO ClinVar Annotator: match by term: Craniofacial microsomia 1 ClinVar PMID:25741868 PMID:32738032 NCBI chrNW_004624859:359,309...453,395
Ensembl chrNW_004624859:364,268...454,038 		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 ClinVar Annotator: match by term: Mandibulofacial dysostosis ClinVar PMID:25741868 NCBI chrNW_004624795:407,228...435,578
Ensembl chrNW_004624795:407,598...438,734 		JBrowse link
G Polr1b RNA polymerase I subunit B ISO ClinVar Annotator: match by term: Treacher Collins-Franceschetti syndrome ClinVar PMID:31649276 NCBI chrNW_004624749:12,602,078...12,625,200
Ensembl chrNW_004624749:12,602,004...12,625,200 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131976 NCBI chrNW_004624754:16,125,322...16,129,339
Ensembl chrNW_004624754:16,122,935...16,136,395 		JBrowse link
G Polr1d RNA polymerase I and III subunit D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131976 NCBI chrNW_004624776:10,872,975...10,874,852
Ensembl chrNW_004624776:10,810,952...10,875,214 		JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: TREACHER COLLINS-FRANCESCHETTI SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624774:9,660,272...9,699,708 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_004624853:6,298,406...6,362,353
Ensembl chrNW_004624853:6,302,751...6,360,089 		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 RETARDATION ClinVar PMID:9973280 PMID:10396622 PMID:11017087 PMID:11527935 PMID:11726554 More... NCBI chrNW_004624742:3,536,591...3,661,706
Ensembl chrNW_004624742:3,536,591...3,661,468 		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_004624795:407,228...435,578
Ensembl chrNW_004624795:407,598...438,734 		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 | ClinVar Annotator: match by term: SF3B4-related acrofacial dysostosis | ClinVar Annotator: match by term: SF3B4-related condition OMIM
ClinVar		 PMID:16199547 PMID:22541558 PMID:23568615 PMID:24003905 PMID:25741868 More... NCBI chrNW_004624772:17,701,930...17,706,613
Ensembl chrNW_004624772:17,701,341...17,706,550 		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 OMIM NCBI chrNW_004624747:9,687,369...9,837,344
Ensembl chrNW_004624747:9,705,081...9,837,535 		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: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome OMIM
ClinVar		 PMID:17300748 PMID:18417549 NCBI chrNW_004624800:1,494,183...1,648,978
Ensembl chrNW_004624800:1,494,192...1,648,978 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chrNW_004624800:2,202,986...2,215,309
Ensembl chrNW_004624800:2,203,393...2,212,068 		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: DHODH-related condition | ClinVar Annotator: match by term: Miller syndrome ClinVar
OMIM		 PMID:19915526 PMID:20220176 PMID:21346561 PMID:22692683 PMID:22967083 More... NCBI chrNW_004624746:14,254,811...14,268,034
Ensembl chrNW_004624746:14,254,193...14,268,034 		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:31649276 NCBI chrNW_004624749:12,602,078...12,625,200
Ensembl chrNW_004624749:12,602,004...12,625,200 		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_004624776:10,872,975...10,874,852
Ensembl chrNW_004624776:10,810,952...10,875,214 		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_004624774:9,660,272...9,699,708 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_004624774:9,660,272...9,699,708 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: POLR1D-related condition | ClinVar Annotator: match by term: Treacher Collins syndrome 2 OMIM
ClinVar		 PMID:21131976 PMID:24603435 PMID:25741868 PMID:28492532 PMID:34397304 NCBI chrNW_004624776:10,872,975...10,874,852
Ensembl chrNW_004624776:10,810,952...10,875,214 		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: 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_004624754:16,125,322...16,129,339
Ensembl chrNW_004624754:16,122,935...16,136,395 		JBrowse link
G Slc35b2 solute carrier family 35 member B2 ISO ClinVar Annotator: match by term: Treacher Collins syndrome 3 ClinVar PMID:25741868 NCBI chrNW_004624754:15,606,596...15,609,718
Ensembl chrNW_004624754:15,606,455...15,609,896 		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: POLR1B-related condition | ClinVar Annotator: match by term: Treacher Collins syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:31649276 NCBI chrNW_004624749:12,602,078...12,625,200
Ensembl chrNW_004624749:12,602,004...12,625,200 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 10277
    Developmental Disease 6937
      bone development disease 1088
        dysostosis 284
          synostosis 190
            craniosynostosis 132
              Crouzon syndrome 30
                Acrocraniofacial Dysostosis 0
                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
                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 10277
    disease of anatomical entity 9777
      musculoskeletal system disease 3795
        connective tissue disease 2771
          bone disease 2320
            bone development disease 1088
              dysostosis 284
                synostosis 190
                  craniosynostosis 132
                    Crouzon syndrome 30
                      Acrocraniofacial Dysostosis 0
                      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
                      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