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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: MIM:261800;   OMIA:001919
 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 Acvr2a activin A receptor type 2A ISS OMIM:261800 MouseDO NCBI chr 3:53,614,143...53,701,933
Ensembl chr 3:53,614,171...53,701,941 		JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Pierre Robin-like syndrome ClinVar NCBI chr12:29,739,138...30,830,386
Ensembl chr12:29,740,523...30,830,386 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: WEISSENBACHER-ZWEYMULLER SYNDROME | ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate | ClinVar Annotator: match by term: WEISSENBACHER-ZWEYMULLER SYNDROME | ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome 		ClinVar PMID:9536098 PMID:10677296 PMID:15372529 PMID:15558753 PMID:16033917 More... NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		JBrowse link
G Dlx6 distal-less homeobox 6 ISO Cleft palate 1, DLX6-related OMIA PMID:24699068 PMID:28738009 PMID:28887848 PMID:34838248 NCBI chr 4:35,951,005...35,956,354
Ensembl chr 4:35,951,005...35,956,354 		JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar PMID:25741868 PMID:28017370 PMID:28017372 PMID:33956416 PMID:35340043 NCBI chr 1:201,426,446...201,544,444
Ensembl chr 1:201,426,450...201,544,305 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISS OMIM:261800 MouseDO NCBI chr11:97,462,025...97,529,193
Ensembl chr11:97,462,025...97,527,825 		JBrowse link
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 ISO ClinVar Annotator: match by term: Pierre Robin Syndrome ClinVar NCBI chr 3:137,824,870...137,832,479
Ensembl chr 3:137,824,683...137,832,515 		JBrowse link
G Sox11 SRY-box transcription factor 11 ISS OMIM:261800 MouseDO NCBI chr 6:49,736,773...49,738,794
Ensembl chr 6:49,736,304...49,738,691 		JBrowse link
G Sox9 SRY-box transcription factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19234473 NCBI chr10:98,305,744...98,311,250
Ensembl chr10:98,305,744...98,311,250 		JBrowse link
G Tfrc transferrin receptor ISS OMIM:261800 MouseDO NCBI chr11:81,668,478...81,690,318
Ensembl chr11:81,668,478...81,690,318 		JBrowse link
Braddock-Carey Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif15 kinesin family member 15 ISO ClinVar Annotator: match by term: Braddock-carey syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28150392 NCBI chr 8:131,479,340...131,550,209
Ensembl chr 8:131,479,337...131,550,202 		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 Annotator: match by term: MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE ClinVar PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 More... NCBI chr 3:30,786,443...30,795,374
Ensembl chr 3:30,786,443...30,795,374 		JBrowse link
Carey-Fineman-Ziter syndrome 1 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: Carey-Fineman-Ziter syndrome 1 OMIM
ClinVar		 PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953 More... NCBI chr 3:30,786,443...30,795,374
Ensembl chr 3:30,786,443...30,795,374 		JBrowse link
Carey-Fineman-Ziter syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymx myomixer, myoblast fusion factor ISO
ISS 		OMIM:619941
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 		OMIM
MouseDO
ClinVar		 PMID:35642635 PMID:39668186 NCBI chr 9:22,894,524...22,895,701
Ensembl chr 9:22,894,524...22,895,701 		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 3:48,188,286...48,338,996
Ensembl chr 3:48,188,182...48,339,014 		JBrowse link
G Tgds TDP-glucose 4,6-dehydratase ISO
ISS 		OMIM:616145
ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: TGDS-related condition 		OMIM
MouseDO
ClinVar		 PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 More... NCBI chr15:101,581,765...101,602,779
Ensembl chr15:101,582,227...101,602,718 		JBrowse link
otospondylomegaepiphyseal dysplasia, autosomal dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:204,509,136...204,702,264 		JBrowse link
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
CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation:intron 		OMIM
ClinVar
CTD
RGD		 PMID:7833911 PMID:7859284 PMID:9506662 PMID:9536098 PMID:9805126 More... RGD:12904710 NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:25741868 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:34,081,364...34,164,552
Ensembl chr 9:34,003,905...34,164,543 		JBrowse link
G Col9a2 collagen type IX alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:139,892,798...139,910,131
Ensembl chr 5:139,892,798...139,909,855 		JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:188,089,337...188,112,034
Ensembl chr 3:188,089,403...188,112,270 		JBrowse link
G Gzf1 GDNF-inducible zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:156,572,152...156,584,369
Ensembl chr 3:156,572,250...156,584,363 		JBrowse link
G Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:95,509,228...95,528,400
Ensembl chr 9:95,510,877...95,520,817 		JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:117,098,358...117,114,673
Ensembl chr 4:117,099,635...117,115,046 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535 		JBrowse link
G P3h2 prolyl 3-hydroxylase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:88,139,086...88,280,221
Ensembl chr11:88,139,078...88,281,203 		JBrowse link
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:25,313,070...25,323,631
Ensembl chr12:25,313,072...25,323,631 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:56,918,662...56,937,032
Ensembl chr18:56,923,337...56,937,012 		JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:93,977,812...93,984,431
Ensembl chr15:93,969,038...93,984,526 		JBrowse link
G Vcan versican ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:22,497,035...22,595,955
Ensembl chr 2:22,497,035...22,595,955 		JBrowse link
G Xylt2 xylosyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:80,102,776...80,116,346
Ensembl chr10:80,102,873...80,116,257 		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 term: EIF4A3-related condition | ClinVar Annotator: match by term: Richieri Costa-Pereira syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:24360810 NCBI chr10:105,047,567...105,057,561
Ensembl chr10:105,047,568...105,058,207 		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: RBM10-related condition | ClinVar Annotator: match by term: TARP syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:5410571 PMID:20451169 PMID:21910224 PMID:24259342 PMID:25741868 More... NCBI chr  X:4,093,914...4,126,060
Ensembl chr  X:4,093,914...4,126,060 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    syndrome 5304
      Weissenbacher-Zweymuller syndrome 33
        Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
        Braddock Carey Syndrome + 1
        Carey-Fineman-Ziter syndrome + 2
        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
        Ventricular Extrasystoles Perodactyly Robin Sequence 0
        otospondylomegaepiphyseal dysplasia, autosomal dominant 17
Path 2
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7730
        Congenital Abnormalities 3298
          Musculoskeletal Abnormalities 1594
            Craniofacial Abnormalities 1409
              Maxillofacial Abnormalities 253
                Jaw Abnormalities 249
                  Weissenbacher-Zweymuller syndrome 33
                    Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
                    Braddock Carey Syndrome + 1
                    Carey-Fineman-Ziter syndrome + 2
                    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
                    Ventricular Extrasystoles Perodactyly Robin Sequence 0
                    otospondylomegaepiphyseal dysplasia, autosomal dominant 17
paths to the root