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ONTOLOGY REPORT - ANNOTATIONS


Term:Crouzon syndrome
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Accession:DOID:2339 term browser browse the term
Definition:Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.
Synonyms:exact_synonym: CFD1;   Craniofacial Dysarthroses;   Craniofacial Dysarthrosis;   Craniofacial Dysostoses;   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
 primary_id: MESH:D003394;   RDO:0000620
 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 JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
RGD:12801472
RGD:12801470
RGD:12801466
RGD:11554173
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Tcof1 treacle ribosome biogenesis factor 1 JBrowse link 18 56,081,863 56,115,719 RGD:8554872
acrofacial dysostosis Cincinnati type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr1a RNA polymerase I subunit A JBrowse link 4 99,822,964 99,903,969 RGD:7240710
RGD:8554872
acromelic frontonasal dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zswim6 zinc finger, SWIM-type containing 6 JBrowse link 2 38,978,042 39,042,886 RGD:7240710
RGD:8554872
Autosomal Recessive Craniometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:7240710
RGD:8554872
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med25 mediator complex subunit 25 JBrowse link 1 100,872,240 100,887,864 RGD:8554872
RGD:7240710
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:7240710
RGD:8554872
RGD:11568032
RGD:11554173
Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tsr2 TSR2, ribosome maturation factor JBrowse link X 20,141,406 20,146,082 RGD:7240710
RGD:8554872
Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100361854 ribosomal protein S26-like JBrowse link X 115,495,660 115,496,062 RGD:8554872
G Rps28 ribosomal protein S28 JBrowse link 7 18,682,071 18,683,440 RGD:7240710
RGD:8554872
G Tsr2 TSR2, ribosome maturation factor JBrowse link X 20,141,406 20,146,082 RGD:8554872
Freeman-Sheldon Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:7240710
RGD:8554872
Goldenhar syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sall1 spalt-like transcription factor 1 JBrowse link 19 23,387,737 23,405,025 RGD:8554872
G Zic3 Zic family member 3 JBrowse link X 140,875,191 140,888,344 RGD:13592920
Mandibulofacial Dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eftud2 elongation factor Tu GTP binding domain containing 2 JBrowse link 10 90,932,071 90,983,971 RGD:10045556
G Polr1c RNA polymerase I and III subunit C JBrowse link 9 17,120,759 17,124,871 RGD:11554173
G Polr1d RNA polymerase I and III subunit D JBrowse link 12 9,693,828 9,727,416 RGD:11554173
G Tcof1 treacle ribosome biogenesis factor 1 JBrowse link 18 56,081,863 56,115,719 RGD:11554173
mandibulofacial dysostosis with alopecia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ednra endothelin receptor type A JBrowse link 19 33,928,356 33,991,703 RGD:8554872
RGD:7240710
Mandibulofacial Dysostosis with Mental Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:8554872
mandibulofacial dysostosis, Guion-Almeida type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eftud2 elongation factor Tu GTP binding domain containing 2 JBrowse link 10 90,932,071 90,983,971 RGD:7240710
RGD:8554872
RGD:10045557
Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr1c RNA polymerase I and III subunit C JBrowse link 9 17,120,759 17,124,871 RGD:7240710
RGD:8554872
Nager acrofacial dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sf3b4 splicing factor 3b, subunit 4 JBrowse link 2 198,312,428 198,317,180 RGD:7240710
RGD:8554872
Oculomaxillofacial Dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like JBrowse link 20 14,287,470 14,393,879 RGD:7240710
RGD:8554872
Patterson Stevenson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:8554872
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801418
postaxial acrofacial dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhodh dihydroorotate dehydrogenase (quinone) JBrowse link 19 42,066,103 42,087,906 RGD:7240710
RGD:8554872
Preaxial Polydactyly II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:7240710
RGD:8554872
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801447
RGD:12801448
Treacher Collins syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd74 CD74 molecule JBrowse link 18 56,071,420 56,080,851 RGD:8554872
G Polr1c RNA polymerase I and III subunit C JBrowse link 9 17,120,759 17,124,871 RGD:13592920
G Polr1d RNA polymerase I and III subunit D JBrowse link 12 9,693,828 9,727,416 RGD:7240710
RGD:8554872
G Tcof1 treacle ribosome biogenesis factor 1 JBrowse link 18 56,081,863 56,115,719 RGD:1599379
RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      bone development disease 1001
        dysostosis 307
          Crouzon syndrome 24
            Autosomal Recessive Craniometaphyseal Dysplasia 1
            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 + 18
            Maxillofacial Dysostosis 0
            Oculomaxillofacial Dysostosis 1
            Tricho-Dento-Osseous Syndrome 1 0
            Whistling Face Syndrome, Recessive Form 0
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      Skin and Connective Tissue Diseases 4236
        connective tissue disease 2790
          bone disease 2242
            bone development disease 1001
              dysostosis 307
                synostosis 203
                  craniosynostosis 167
                    Crouzon syndrome 24
                      Autosomal Recessive Craniometaphyseal Dysplasia 1
                      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 + 18
                      Maxillofacial Dysostosis 0
                      Oculomaxillofacial Dysostosis 1
                      Tricho-Dento-Osseous Syndrome 1 0
                      Whistling Face Syndrome, Recessive Form 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.