ONTOLOGY REPORT - ANNOTATIONS


Term:Weissenbacher-Zweymuller syndrome
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Accession:DOID:4258 term browser browse the term
Definition:Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.
Synonyms:exact_synonym: PRBNS;   Piere-Robin syndrome;   Pierre Robin Malformation;   Pierre Robin Sequence;   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;   RDO:0000415
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Weissenbacher-Zweymuller syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acadvl acyl-CoA dehydrogenase, very long chain JBrowse link 10 56,619,321 56,624,468 RGD:8554872
G Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 JBrowse link 10 56,492,300 56,506,446 RGD:8554872
G Acvr2a activin A receptor type 2A JBrowse link 3 32,947,901 33,034,598 RGD:13592920
G Auts2 activator of transcription and developmental regulator AUTS2 JBrowse link 12 27,155,362 28,252,752 RGD:8554872
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit JBrowse link 10 56,390,671 56,403,255 RGD:8554872
G Cldn7 claudin 7 JBrowse link 10 56,576,326 56,578,632 RGD:8554872
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:8554872
G Ctdnep1 CTD nuclear envelope phosphatase 1 JBrowse link 10 56,590,822 56,600,235 RGD:8554872
G Dvl2 dishevelled segment polarity protein 2 JBrowse link 10 56,609,810 56,619,269 RGD:8554872
G Ebf3 EBF transcription factor 3 JBrowse link 1 209,523,153 209,641,143 RGD:8554872
G Eif5a eukaryotic translation initiation factor 5A JBrowse link 10 56,527,075 56,531,615 RGD:8554872
G Elp5 elongator acetyltransferase complex subunit 5 JBrowse link 10 56,578,980 56,590,706 RGD:8554872
G Fgf11 fibroblast growth factor 11 JBrowse link 10 56,403,320 56,410,816 RGD:8554872
G Gabarap GABA type A receptor-associated protein JBrowse link 10 56,601,288 56,604,223 RGD:8554872
G Gps2 G protein pathway suppressor 2 JBrowse link 10 56,524,327 56,527,447 RGD:8554872
G Kctd11 potassium channel tetramerization domain containing 11 JBrowse link 10 56,489,552 56,491,715 RGD:8554872
G Mapk1 mitogen activated protein kinase 1 JBrowse link 11 88,203,863 88,273,301 RGD:13592920
G Neurl4 neuralized E3 ubiquitin protein ligase 4 JBrowse link 10 56,511,861 56,524,233 RGD:8554872
G Nlgn2 neuroligin 2 JBrowse link 10 56,431,586 56,444,847 RGD:8554872
G Phf23 PHD finger protein 23 JBrowse link 10 56,605,078 56,609,236 RGD:8554872
G Plscr3 phospholipid scramblase 3 JBrowse link 10 56,452,632 56,458,390 RGD:8554872
G Polr2a RNA polymerase II subunit A JBrowse link 10 56,339,277 56,364,888 RGD:8554872
G Slc2a4 solute carrier family 2 member 4 JBrowse link 10 56,552,921 56,558,562 RGD:8554872
G Slc35g3 solute carrier family 35, member G3 JBrowse link 10 56,366,578 56,368,360 RGD:8554872
G Sox11 SRY box 11 JBrowse link 6 46,629,967 46,631,988 RGD:13592920
G Sox9 SRY box 9 JBrowse link 10 101,288,528 101,294,030 RGD:11554173
G Spem1 spermatid maturation 1 JBrowse link 10 56,428,447 56,429,748 RGD:8554872
G Spem2 SPEM family member 2 JBrowse link 10 56,424,164 56,426,012 RGD:8554872
G Tmem102 transmembrane protein 102 JBrowse link 10 56,410,898 56,413,154 RGD:8554872
G Tmem256 transmembrane protein 256 JBrowse link 10 56,446,022 56,447,138 RGD:8554872
G Tmem95 transmembrane protein 95 JBrowse link 10 56,486,778 56,488,723 RGD:8554872
G Tnk1 tyrosine kinase, non-receptor, 1 JBrowse link 10 56,458,650 56,475,183 RGD:8554872
G Tnnt3 troponin T3, fast skeletal type JBrowse link 1 215,666,628 215,683,628 RGD:8554872
G Ybx2 Y box binding protein 2 JBrowse link 10 56,546,689 56,552,339 RGD:8554872
G Zbtb4 zinc finger and BTB domain containing 4 JBrowse link 10 56,367,586 56,388,296 RGD:8554872
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mymk myomaker, myoblast fusion factor JBrowse link 3 5,608,243 5,617,689 RGD:8554872
RGD:7240710
Catel Manzke Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgds TDP-glucose 4,6-dehydratase JBrowse link 15 103,319,268 103,340,239 RGD:8554872
RGD:7240710
Pierre Robin Syndrome with Fetal Chondrodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:7240710
RGD:8554872
RGD:12904710
Richieri Costa Pereira Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif4a3 eukaryotic translation initiation factor 4A3 JBrowse link 10 108,415,201 108,425,195 RGD:7240710
RGD:8554872
TARP Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbm10 RNA binding motif protein 10 JBrowse link X 1,754,869 1,786,973 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      Weissenbacher-Zweymuller syndrome 39
        Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
        Carey-Fineman-Ziter syndrome 1
        Catel Manzke Syndrome 1
        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
        Pierre Robin Syndrome with Fetal Chondrodysplasia 1
        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
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        Congenital Abnormalities 3149
          Musculoskeletal Abnormalities 1191
            Craniofacial Abnormalities 949
              Maxillofacial Abnormalities 199
                Jaw Abnormalities 196
                  Weissenbacher-Zweymuller syndrome 39
                    Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
                    Carey-Fineman-Ziter syndrome 1
                    Catel Manzke Syndrome 1
                    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
                    Pierre Robin Syndrome with Fetal Chondrodysplasia 1
                    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
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.