ONTOLOGY REPORT - ANNOTATIONS


Term:Mandibulofacial Dysostosis
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Accession:DOID:9008003 term browser browse the term
Definition:A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)
Synonyms:exact_synonym: Franceschetti-Zwahlen-Klein Syndrome;   Mandibulofacial Dysostoses;   TCOF;   Treacher Collins-Franceschetti Syndrome
 primary_id: MESH:D008342;   RDO:0000931
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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
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
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
Genee-Wiedemann Syndrome 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
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 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
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
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 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 14920
    Developmental Diseases 7769
      bone development disease 895
        dysostosis 233
          Crouzon syndrome 23
            Mandibulofacial Dysostosis 17
              Branchial Arch Syndrome X-Linked 0
              Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis 1
              Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis 3
              Fara Chlupackova Syndrome 0
              Genee-Wiedemann Syndrome 1
              Goldenhar syndrome + 2
              Mandibulofacial Dysostosis with Mental Deficiency 1
              Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant 0
              Nager acrofacial dysostosis 1
              Opitz Reynolds Fitzgerald syndrome 0
              Patterson Stevenson Syndrome + 2
              Richieri Costa Guion-Almeida Syndrome 0
              Treacher Collins syndrome + 3
              acrofacial dysostosis Cincinnati type 1
              acrofacial dysostosis Rodriguez type 0
              acrofacial dysostosis, Catania type 0
              acrofacial dysostosis, Patagonia type 0
              acrofrontofacionasal dysostosis 0
              acromelic frontonasal dysostosis 1
              mandibulofacial dysostosis with alopecia 1
              mandibulofacial dysostosis, Guion-Almeida type 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      Skin and Connective Tissue Diseases 3927
        connective tissue disease 2585
          bone disease 2125
            bone development disease 895
              dysostosis 233
                synostosis 148
                  craniosynostosis 112
                    Crouzon syndrome 23
                      Mandibulofacial Dysostosis 17
                        Branchial Arch Syndrome X-Linked 0
                        Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis 1
                        Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis 3
                        Fara Chlupackova Syndrome 0
                        Genee-Wiedemann Syndrome 1
                        Goldenhar syndrome + 2
                        Mandibulofacial Dysostosis with Mental Deficiency 1
                        Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant 0
                        Nager acrofacial dysostosis 1
                        Opitz Reynolds Fitzgerald syndrome 0
                        Patterson Stevenson Syndrome + 2
                        Richieri Costa Guion-Almeida Syndrome 0
                        Treacher Collins syndrome + 3
                        acrofacial dysostosis Cincinnati type 1
                        acrofacial dysostosis Rodriguez type 0
                        acrofacial dysostosis, Catania type 0
                        acrofacial dysostosis, Patagonia type 0
                        acrofrontofacionasal dysostosis 0
                        acromelic frontonasal dysostosis 1
                        mandibulofacial dysostosis with alopecia 1
                        mandibulofacial dysostosis, Guion-Almeida type 1
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.