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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: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
 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 chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
JBrowse link
G Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,492,300...56,506,446
Ensembl chr10:56,492,300...56,506,446
JBrowse link
G Acvr2a activin A receptor type 2A ISS OMIM:261800 MouseDO NCBI chr 3:32,947,901...33,034,598
Ensembl chr 3:32,947,378...33,034,282
JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Pierre Robin-like syndrome ClinVar NCBI chr12:27,155,362...28,252,752
Ensembl chr12:28,212,333...28,251,816
JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Robin sequence ClinVar PMID:30311386 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,390,671...56,403,255
Ensembl chr10:56,390,671...56,403,188
JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,576,326...56,578,632
Ensembl chr10:56,576,428...56,578,626
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Robin sequence ClinVar PMID:30311386 NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,590,822...56,600,235
Ensembl chr10:56,591,292...56,600,232
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Robin sequence ClinVar PMID:30311386 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,609,810...56,619,269
Ensembl chr10:56,610,051...56,619,269
JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Robin sequence ClinVar PMID:19627984, PMID:20300201, PMID:25741868, PMID:28017370, PMID:28017372, PMID:28017373, PMID:28487885, PMID:29062322, PMID:29162653 NCBI chr 1:209,523,153...209,641,143
Ensembl chr 1:209,523,157...209,641,123
JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,527,075...56,531,615
Ensembl chr10:56,527,085...56,531,483
JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,578,980...56,590,706
Ensembl chr10:56,578,985...56,591,364
JBrowse link
G Fgf11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,403,320...56,410,816
Ensembl chr10:56,403,256...56,409,017
JBrowse link
G Gabarap GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,601,288...56,604,223
Ensembl chr10:56,601,288...56,604,221
JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,524,327...56,527,447
Ensembl chr10:56,524,468...56,526,987
JBrowse link
G Kctd11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,489,552...56,491,715
Ensembl chr10:56,489,552...56,491,715
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISS OMIM:261800 MouseDO NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,511,861...56,524,233
Ensembl chr10:56,512,615...56,524,229
JBrowse link
G Nlgn2 neuroligin 2 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,431,586...56,444,847
Ensembl chr10:56,431,573...56,444,847
JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,605,078...56,609,236
Ensembl chr10:56,605,140...56,609,233
JBrowse link
G Plscr3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,452,632...56,458,390
Ensembl chr10:56,453,877...56,458,390
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Robin sequence ClinVar PMID:24355708, PMID:30311386 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link
G Polr2a RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,339,277...56,364,888
Ensembl chr10:56,339,284...56,365,084
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Robin sequence ClinVar PMID:30311386 NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link
G Slc1a2 solute carrier family 1 member 2 ISO ClinVar Annotator: match by term: Robin sequence ClinVar PMID:30311386 NCBI chr 3:92,518,679...92,665,731
Ensembl chr 3:92,640,752...92,665,644
JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,552,921...56,558,562
Ensembl chr10:56,552,983...56,558,487
JBrowse link
G Slc35g3 solute carrier family 35, member G3 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,366,578...56,368,360
Ensembl chr10:56,366,609...56,368,360
JBrowse link
G Sox11 SRY-box transcription factor 11 ISS OMIM:261800 MouseDO NCBI chr 6:46,629,967...46,631,988
Ensembl chr 6:46,629,974...46,631,983
JBrowse link
G Sox9 SRY-box transcription factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19234473 NCBI chr10:101,288,528...101,294,030
Ensembl chr10:101,288,489...101,293,379
JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,428,447...56,429,748
Ensembl chr10:56,428,344...56,429,833
JBrowse link
G Spem2 SPEM family member 2 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,424,164...56,426,012
Ensembl chr10:56,424,164...56,426,012
JBrowse link
G Tmem102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,410,898...56,413,154
Ensembl chr10:56,410,918...56,412,544
JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,446,022...56,447,138
Ensembl chr10:56,445,647...56,447,138
JBrowse link
G Tmem95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,486,778...56,488,723
Ensembl chr10:56,487,417...56,488,723
JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,458,650...56,475,183
Ensembl chr10:56,459,108...56,465,393
JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Robin sequence ClinVar PMID:25741868 NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
JBrowse link
G Ybx2 Y box binding protein 2 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,546,689...56,552,339
Ensembl chr10:56,546,710...56,551,863
JBrowse link
G Zbtb4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr10:56,367,586...56,388,296
Ensembl chr10:56,381,813...56,385,960
JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Robin sequence ClinVar PMID:30311386 NCBI chr15:108,908,366...108,913,812
Ensembl chr15:108,908,607...108,912,737
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 NCBI chr 3:5,608,243...5,617,689
Ensembl chr 3:5,608,243...5,617,225
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 PMID:25741868, PMID:31923704 NCBI chr 3:28,416,926...28,566,939
Ensembl chr 3:28,416,954...28,566,928
JBrowse link
G Tgds TDP-glucose 4,6-dehydratase ISO ClinVar Annotator: match by term: Catel Manzke syndrome ClinVar
OMIM
PMID:9777339, PMID:14564220, PMID:18501694, PMID:21834032, PMID:22887726, PMID:24326962, PMID:25480037, PMID:25741868, PMID:26366375, PMID:28422407 NCBI chr15:103,319,268...103,340,239
Ensembl chr15:103,319,268...103,340,240
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, PMID:15922184, PMID:22938506, PMID:23967202, PMID:24033266, PMID:25240749, PMID:25633957, PMID:25741868, PMID:26467025, PMID:26691295, PMID:7859284 RGD:12904710 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
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 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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 chr10:108,415,201...108,425,195
Ensembl chr10:108,415,202...108,425,206
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:1,754,869...1,786,973
Ensembl chr  X:1,754,861...1,786,978
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Weissenbacher-Zweymuller syndrome 48
        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 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Craniofacial Abnormalities 1459
              Maxillofacial Abnormalities 239
                Jaw Abnormalities 228
                  Weissenbacher-Zweymuller syndrome 48
                    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

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