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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:Weissenbacher-Zweymuller syndrome
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Accession:DOID:4258 term browser browse the term
Definition:An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities. (DO)
Synonyms:exact_synonym: PRBNS;   Piere-Robin syndrome;   Pierre Robin Sequence;   Pierre Robin malformation;   Pierre Robin syndrome;   Pierre Robin's Sequence;   Pierre Robins sequence;   Robin sequence;   WZS;   Weissenbacher-Zweymüller syndrome;   cleft palate 1;   glossoptosis, micrognathia, and cleft palate
 narrow_synonym: PIERRE ROBIN-LIKE SYNDROME
 primary_id: MESH:D010855
 alt_id: OMIA:001919;   OMIM:261800
 xref: NCI:C85010
For additional species annotation, visit the Alliance of Genome Resources.


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Weissenbacher-Zweymuller syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
JBrowse link
G Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,605,323...54,619,472
Ensembl chr10:54,605,323...54,619,472
JBrowse link
G Acvr2a activin A receptor type 2A ISS OMIM:261800 MouseDO NCBI chr 3:33,204,961...33,292,673
Ensembl chr 3:33,205,523...33,289,968
JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Pierre Robin-like syndrome ClinVar
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345
JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171
JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,704,367...54,713,781
Ensembl chr10:54,704,148...54,713,781
JBrowse link
G Dlx6 distal-less homeobox 6 ISO Cleft palate 1 OMIA PMID:24699068 PMID:28738009 NCBI chr 4:34,984,264...34,989,926 JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,723,356...54,732,823
Ensembl chr10:54,723,411...54,732,820
JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Robin sequence ClinVar PMID:25741868 PMID:28017370 PMID:28017372 PMID:33956416 NCBI chr 1:191,996,726...192,114,713
Ensembl chr 1:191,996,730...192,114,359
JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656
JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,692,526...54,704,255
Ensembl chr10:54,692,530...54,704,923
JBrowse link
G Fgf11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,516,508...54,522,067
Ensembl chr10:54,517,077...54,522,062
JBrowse link
G Gabarap GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,714,834...54,717,769
Ensembl chr10:54,714,198...54,717,765
JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,637,360...54,640,542
Ensembl chr10:54,637,455...54,640,650
JBrowse link
G Kctd11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,602,575...54,604,738
Ensembl chr10:54,599,754...54,604,760
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISS OMIM:261800 MouseDO NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,624,923...54,637,262
Ensembl chr10:54,625,642...54,637,258
JBrowse link
G Nlgn2 neuroligin 2 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,544,588...54,557,854
Ensembl chr10:54,544,588...54,558,434
JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,718,608...54,722,784
Ensembl chr10:54,717,724...54,722,782
JBrowse link
G Plscr3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,566,556...54,573,240
Ensembl chr10:54,566,873...54,578,709
JBrowse link
G Polr2a RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455
JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
JBrowse link
G Slc35g3 solute carrier family 35, member G3 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,478,796...54,481,543
Ensembl chr10:54,479,770...54,481,748
JBrowse link
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339
JBrowse link
G Sox11 SRY-box transcription factor 11 ISS OMIM:261800 MouseDO NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
JBrowse link
G Sox9 SRY-box transcription factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19234473 NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,541,454...54,542,755
Ensembl chr10:54,541,471...54,546,131
JBrowse link
G Spem2 SPEM family member 2 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,537,168...54,539,026
Ensembl chr10:54,537,174...54,539,058
JBrowse link
G Tmem102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,523,901...54,525,999
Ensembl chr10:54,523,585...54,525,990
JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,559,030...54,560,146
Ensembl chr10:54,555,360...54,560,120
JBrowse link
G Tmem95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,599,799...54,601,746
Ensembl chr10:54,599,800...54,601,790
JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,571,396...54,580,547
Ensembl chr10:54,571,117...54,579,940
JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Robin sequence ClinVar PMID:25741868 NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
JBrowse link
G Ybx2 Y box binding protein 2 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,659,719...54,665,371
Ensembl chr10:54,659,719...54,665,371
JBrowse link
G Zbtb4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:54,480,698...54,501,492
Ensembl chr10:54,485,071...54,501,492
JBrowse link
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences ClinVar
OMIM
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 More... NCBI chr 3:10,388,361...10,397,364
Ensembl chr 3:10,388,361...10,397,343
JBrowse link
Catel Manzke Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kynu kynureninase ISO ClinVar Annotator: match by term: Catel Manzke syndrome
ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME
ClinVar PMID:25741868 PMID:31923704 PMID:33942433 NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488
JBrowse link
G Tgds TDP-glucose 4,6-dehydratase ISO ClinVar Annotator: match by term: Catel Manzke syndrome ClinVar
OMIM
PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 More... NCBI chr15:95,174,607...95,195,577
Ensembl chr15:95,174,608...95,195,554
JBrowse link
otospondylomegaepiphyseal dysplasia, autosomal dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant
ClinVar Annotator: match by term: PIERRE ROBIN SYNDROME WITH FETAL CHONDRODYSPLASIA STICKLER SYNDROME, NONOCULAR TYPE
ClinVar Annotator: match by term: Stickler syndrome, type 3
ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome
DNA:splice-site mutation:intron
ClinVar Annotator: match by OMIM:277610
OMIM
ClinVar
PMID:7833911 PMID:9506662 PMID:9805126 PMID:14234962 PMID:15372529 More... RGD:12904710 NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Stickler syndrome, type 3 ClinVar PMID:25741868 NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
Richieri Costa Pereira Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif4a3 eukaryotic translation initiation factor 4A3 ISO ClinVar Annotator: match by OMIM:268305 OMIM
ClinVar
PMID:24360810 NCBI chr10:104,549,038...104,559,032
Ensembl chr10:104,549,038...104,559,057
JBrowse link
TARP syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: TARP syndrome
ClinVar Annotator: match by OMIM:311900
OMIM
ClinVar
PMID:5410571 PMID:20451169 PMID:21910224 PMID:24259342 PMID:25741868 NCBI chr  X:1,540,399...1,572,571
Ensembl chr  X:1,540,398...1,572,575
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Weissenbacher-Zweymuller syndrome 43
        Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
        Carey-Fineman-Ziter syndrome 1
        Catel Manzke Syndrome 2
        Chitayat Meunier Hodgkinson Syndrome 0
        Femoral Facial Syndrome 0
        Pierre Robin Sequence with Facial and Digital Anomalies 0
        Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies 0
        Radial Defect Robin Sequence 0
        Richieri Costa Pereira Syndrome 1
        Robin Sequence and Oligodactyly 0
        Robin Sequence with Distinctive Facial Appearance and Brachydactyly 0
        Sanderson Fraser Syndrome 0
        Stevenson-Carey Syndrome 0
        Stoll Alembik Dott Syndrome 0
        TARP syndrome 1
        Thrombocytopenia Robin Sequence 0
        Ventricular Extrasystoles Perodactyly Robin Sequence 0
        otospondylomegaepiphyseal dysplasia, autosomal dominant 2
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        Congenital Abnormalities 5588
          Musculoskeletal Abnormalities 2238
            Craniofacial Abnormalities 1960
              Maxillofacial Abnormalities 242
                Jaw Abnormalities 230
                  Weissenbacher-Zweymuller syndrome 43
                    Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
                    Carey-Fineman-Ziter syndrome 1
                    Catel Manzke Syndrome 2
                    Chitayat Meunier Hodgkinson Syndrome 0
                    Femoral Facial Syndrome 0
                    Pierre Robin Sequence with Facial and Digital Anomalies 0
                    Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies 0
                    Radial Defect Robin Sequence 0
                    Richieri Costa Pereira Syndrome 1
                    Robin Sequence and Oligodactyly 0
                    Robin Sequence with Distinctive Facial Appearance and Brachydactyly 0
                    Sanderson Fraser Syndrome 0
                    Stevenson-Carey Syndrome 0
                    Stoll Alembik Dott Syndrome 0
                    TARP syndrome 1
                    Thrombocytopenia Robin Sequence 0
                    Ventricular Extrasystoles Perodactyly Robin Sequence 0
                    otospondylomegaepiphyseal dysplasia, autosomal dominant 2
paths to the root