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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: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
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr10:90,932,071...90,983,971
Ensembl chr10:90,932,075...90,983,928
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131976 NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
JBrowse link
G Polr1d RNA polymerase I and III subunit D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131976 NCBI chr12:9,693,828...9,727,416
Ensembl chr12:9,693,779...9,727,489
JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16938878 NCBI chr18:56,081,863...56,115,719
Ensembl chr18:56,082,195...56,115,593
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 OMIM
ClinVar
PMID:25741868, PMID:25913037, PMID:28492532 NCBI chr 4:99,822,964...99,903,969
Ensembl chr 4:99,823,252...99,887,132
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, PMID:29198722 NCBI chr 2:38,978,042...39,042,886
Ensembl chr 2:38,979,865...39,007,976
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 LOC100361854 ribosomal protein S26-like ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:17483715, PMID:19816270, PMID:23718193, PMID:24942156, PMID:28492532 NCBI chr  X:115,495,660...115,496,062
Ensembl chr  X:115,495,698...115,496,045
JBrowse link
G Rps28 ribosomal protein S28 ISO ClinVar Annotator: match by OMIM:606164 OMIM
ClinVar
PMID:24942156 NCBI chr 7:18,682,071...18,683,440
Ensembl chr 7:18,682,071...18,683,440
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 chr  X:20,141,406...20,146,082
Ensembl chr  X:20,144,432...20,232,639
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 NCBI chr  X:20,141,406...20,146,082
Ensembl chr  X:20,144,432...20,232,639
JBrowse link
Goldenhar syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zic3 Zic family member 3 ISS OMIM:164210 MouseDO NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
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 ClinVar
OMIM
PMID:16116593, PMID:20583178, PMID:25772936 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
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, PMID:15579991, PMID:16682602, PMID:18854780, PMID:19074458, PMID:23419329, PMID:25283059, PMID:25741868, PMID:28041643, PMID:28492532, PMID:28559085, PMID:30718709 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
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: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
ClinVar Annotator: match by OMIM:610536
DNA:mutations:multiple (human)
OMIM
ClinVar
PMID:16760738, PMID:19334086, PMID:22305528, PMID:22541558, PMID:23188108, PMID:25326635, PMID:25326637, PMID:25741868, PMID:28708303, PMID:22305528 RGD:10045557 NCBI chr10:90,932,071...90,983,971
Ensembl chr10:90,932,075...90,983,928
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 OMIM:154400
OMIM
ClinVar
PMID:18000904, PMID:22541558, PMID:23568615, PMID:24003905, PMID:24715698, PMID:25741868, PMID:27642715, PMID:28492532 NCBI chr 2:198,312,428...198,317,180
Ensembl chr 2:198,312,428...198,317,180
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 polysyndactyly syndrome ClinVar PMID:17300748, PMID:18178630, PMID:18417549 NCBI chr 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
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
ClinVar Annotator: match by OMIM:263750
OMIM
ClinVar
PMID:19915526, PMID:20220176, PMID:21346561, PMID:22692683, PMID:22967083, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
JBrowse link
Treacher Collins syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd74 CD74 molecule ISO ClinVar Annotator: match by term: Treacher Collins Syndrome, Dominant ClinVar NCBI chr18:56,071,420...56,080,851
Ensembl chr18:56,071,478...56,080,849
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISS OMIM:154500 | OMIM:248390 | OMIM:613717 MouseDO NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
JBrowse link
G Polr1d RNA polymerase I and III subunit D ISS OMIM:154500 | OMIM:248390 | OMIM:613717 MouseDO NCBI chr12:9,693,828...9,727,416
Ensembl chr12:9,693,779...9,727,489
JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO
ISS
OMIM:154500 | OMIM:248390 | OMIM:613717
ClinVar Annotator: match by term: Treacher Collins Syndrome, Dominant
MouseDO
ClinVar
PMID:9096354 RGD:1599379 NCBI chr18:56,081,863...56,115,719
Ensembl chr18:56,082,195...56,115,593
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: Treacher Collins syndrome 1 OMIM
ClinVar
PMID:8563749, PMID:8894686, PMID:9042910, PMID:9096354, PMID:9736782, PMID:9811939, PMID:10982400, PMID:11013442, PMID:12114482, PMID:14598341, PMID:15214011, PMID:15340364, PMID:19050407, PMID:21951868, PMID:22317976, PMID:23967202, PMID:24108658, PMID:25741868, PMID:26467025, PMID:28065470, PMID:28419064, PMID:28492532 NCBI chr18:56,081,863...56,115,719
Ensembl chr18:56,082,195...56,115,593
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 NCBI chr12:9,693,828...9,727,416
Ensembl chr12:9,693,779...9,727,489
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 3
ClinVar Annotator: match by term: Treacher Collins Syndrome, Recessive
ClinVar Annotator: match by term: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
ClinVar Annotator: match by term: POLR1C-Related Disorders
ClinVar Annotator: match by OMIM:248390
OMIM
ClinVar
PMID:610060, PMID:11013442, PMID:21131976, PMID:22563501, PMID:24942156, PMID:25741868, PMID:26151409, PMID:26467025, PMID:28327206, PMID:28492532, PMID:29567474, PMID:30311386 NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
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:31649276 NCBI chr 3:121,632,043...121,656,506
Ensembl chr 3:121,632,043...121,656,506
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      bone development disease 1343
        dysostosis 344
          Crouzon syndrome 24
            Mandibulofacial Dysostosis 18
              Branchial Arch Syndrome X-Linked 0
              Diamond Blackfan anemia 15 with mandibulofacial dysostosis 3
              Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 1
              Fara Chlupackova Syndrome 0
              Goldenhar syndrome + 1
              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 + 5
              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
              postaxial acrofacial dysostosis 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Skin and Connective Tissue Diseases 5476
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              dysostosis 344
                synostosis 229
                  craniosynostosis 176
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        Branchial Arch Syndrome X-Linked 0
                        Diamond Blackfan anemia 15 with mandibulofacial dysostosis 3
                        Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 1
                        Fara Chlupackova Syndrome 0
                        Goldenhar syndrome + 1
                        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 + 5
                        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
                        postaxial acrofacial dysostosis 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.