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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:Congenital Upper Extremity Deformities
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Accession:DOID:9004402 term browser browse the term
Definition:Congenital structural abnormalities of the UPPER EXTREMITY.
Synonyms:exact_synonym: congenital upper limb deformities
 primary_id: MESH:D038062
For additional species annotation, visit the Alliance of Genome Resources.


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Congenital Upper Extremity Deformities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26424790 NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,384,995...109,450,941
JBrowse link
Aarskog syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGD1 FYVE, RhoGEF and PH domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aarskog syndrome
ClinVar Annotator: match by term: FGDY
ClinVar Annotator: match by term: Aarskog disease
CTD
ClinVar
PMID:4146757 PMID:7954831 PMID:10930571 PMID:11093277 PMID:11940089 PMID:14560308 PMID:15327482 PMID:15809997 PMID:16353258 PMID:16688726 PMID:17152066 PMID:17847065 PMID:20082460 PMID:25741868 PMID:28492532 PMID:29276006 NCBI chr  X:47,191,838...47,231,656
Ensembl chr  X:47,192,423...47,231,342
JBrowse link
G TSR2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: Aarskog syndrome ClinVar PMID:25741868 NCBI chr  X:47,186,610...47,192,465
Ensembl chr  X:47,186,604...47,192,460
JBrowse link
acheiropody term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 ISO OMIM NCBI chr18:1,795,462...1,934,951
Ensembl chr18:1,795,490...1,934,949
JBrowse link
brachydactyly type E1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD13 homeobox D13 ISO OMIM NCBI chr15:81,893,997...81,897,965
Ensembl chr15:81,894,121...81,898,944
JBrowse link
brachydactyly type E2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTHLH parathyroid hormone like hormone ISO OMIM NCBI chr 5:45,750,968...45,763,421
Ensembl chr 5:45,751,292...45,763,415
JBrowse link
camptodactyly-arthropathy-coxa vara-pericarditis syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRG4 proteoglycan 4 ISO OMIM NCBI chr 9:127,463,875...127,481,770 JBrowse link
G TPR translocated promoter region, nuclear basket protein ISO ClinVar Annotator: match by term: Camptodactyly arthropathy coxa vara pericarditis syndrome
ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
ClinVar PMID:25741868 PMID:29397575 NCBI chr 9:127,481,678...127,540,393
Ensembl chr 9:127,481,684...127,540,790
JBrowse link
camptodactyly-tall stature-scoliosis-hearing loss syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR3 fibroblast growth factor receptor 3 ISO OMIM NCBI chr 8:879,151...894,968
Ensembl chr 8:879,151...895,912
JBrowse link
Camptosynpolydactyly, Complex term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 ISO OMIM NCBI chr12:46,641,389...46,643,923
Ensembl chr12:46,642,545...46,643,219
JBrowse link
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX1 paired like homeodomain 1 ISO OMIM NCBI chr 2:137,200,424...137,212,500
Ensembl chr 2:137,198,870...137,206,979
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 chr15:8,847,335...8,982,951
Ensembl chr15:8,850,665...8,982,945
JBrowse link
G TGDS TDP-glucose 4,6-dehydratase ISO OMIM NCBI chr11:63,695,612...63,716,614
Ensembl chr11:63,695,628...63,716,732
JBrowse link
Coffin-Siris syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,365...84,123,384
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO DNA:frameshift,nonsense mutations, haploinsufficiency:cds:
ClinVar Annotator: match by term: Coffin-Siris syndrome
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability
RGD
ClinVar
PMID:18414213 PMID:24033266 PMID:24674232 PMID:25741868 RGD:11526783 NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,629...10,227,947
JBrowse link
G KDM8 lysine demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 3:19,653,396...19,676,207
Ensembl chr 3:19,650,615...19,676,148
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability ClinVar PMID:18414213 NCBI chr 1:219,624,773...219,815,438
Ensembl chr 1:219,573,535...219,815,421
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:24728327 PMID:25741868 PMID:26353884 PMID:27701467 PMID:28166811 PMID:28492532 NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,298
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048
JBrowse link
Coffin-Siris syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22426308 PMID:25741868 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,365...84,123,384
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO OMIM NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,629...10,227,947
JBrowse link
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29429572 NCBI chr 2:6,870,331...6,886,548
Ensembl chr 2:6,870,331...6,886,467
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 NCBI chr 1:219,624,773...219,815,438
Ensembl chr 1:219,573,535...219,815,421
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,298
JBrowse link
Coffin-Siris Syndrome 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX4 SRY-box transcription factor 4 ISO OMIM NCBI chr 7:16,886,834...16,895,488 JBrowse link
Coffin-Siris Syndrome 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 ISO OMIM NCBI chr 5:15,992,348...16,005,778
Ensembl chr 5:15,992,459...16,005,778
JBrowse link
Coffin-Siris syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN4 actinin alpha 4 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 PMID:25741868 PMID:26248470 PMID:26346198 PMID:26467025 PMID:27535533 NCBI chr 6:47,493,834...47,565,999
Ensembl chr 6:47,493,882...47,569,609
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO OMIM NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,365...84,123,384
JBrowse link
G HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 NCBI chr14:6,386,900...6,404,968
Ensembl chr14:6,386,902...6,407,032
JBrowse link
Coffin-Siris syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO OMIM NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048
JBrowse link
Coffin-Siris syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO OMIM NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,298
JBrowse link
Coffin-Siris Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO OMIM NCBI chr12:21,784,410...21,807,170
Ensembl chr12:21,784,426...21,807,170
JBrowse link
Coffin-Siris syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID2 AT-rich interaction domain 2 ISO OMIM NCBI chr 5:76,637,385...76,800,155
Ensembl chr 5:76,637,202...76,847,316
JBrowse link
Coffin-Siris Syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPF2 double PHD fingers 2 ISO OMIM NCBI chr 2:6,870,331...6,886,548
Ensembl chr 2:6,870,331...6,886,467
JBrowse link
Coffin-Siris Syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 ISO OMIM NCBI chr 5:21,563,426...21,586,790
Ensembl chr 5:21,563,402...21,586,727
JBrowse link
Coffin-Siris syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX11 SRY-box transcription factor 11 ISO OMIM NCBI chr 3:129,797,438...129,800,568
Ensembl chr 3:129,798,704...129,800,329
JBrowse link
cold-induced sweating syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCF1 cardiotrophin like cytokine factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:5,142,315...5,152,750 JBrowse link
G CRLF1 cytokine receptor like factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:59,222,551...59,233,723
Ensembl chr 2:59,222,566...59,233,721
JBrowse link
G KLHL7 kelch like family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:91,901,876...91,971,706
Ensembl chr 9:91,903,823...91,971,695
JBrowse link
cold-induced sweating syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRLF1 cytokine receptor like factor 1 ISO OMIM NCBI chr 2:59,222,551...59,233,723
Ensembl chr 2:59,222,566...59,233,721
JBrowse link
G KLHL7 kelch like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:25741868 PMID:27392078 NCBI chr 9:91,901,876...91,971,706
Ensembl chr 9:91,903,823...91,971,695
JBrowse link
cold-induced sweating syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCF1 cardiotrophin like cytokine factor 1 ISO OMIM NCBI chr 2:5,142,315...5,152,750 JBrowse link
cold-induced sweating syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLHL7 kelch like family member 7 ISO OMIM NCBI chr 9:91,901,876...91,971,706
Ensembl chr 9:91,903,823...91,971,695
JBrowse link
Congenital Hand Deformities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr 1:273,119,826...273,155,412
Ensembl chr 1:273,119,000...273,155,412
JBrowse link
G HOXA13 homeobox A13 ISO hand-foot-genital syndrome, OMIM:140000 DNA,protein:point_mutation:CDS:Trp369Ter RGD PMID:9020844 RGD:1599526 NCBI chr18:45,373,340...45,379,046
Ensembl chr18:45,373,440...45,380,300
JBrowse link
G L1CAM L1 cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:7920660 NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307
JBrowse link
G LMNA lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G PAX3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14556253 NCBI chr15:124,093,803...124,193,041
Ensembl chr15:124,095,224...124,193,011
JBrowse link
G PTHLH parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:20170896 NCBI chr 5:45,750,968...45,763,421
Ensembl chr 5:45,751,292...45,763,415
JBrowse link
G SOX9 SRY-box transcription factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19639023 NCBI chr12:8,642,154...8,647,315
Ensembl chr12:8,642,158...8,647,315
JBrowse link
G TFAP2B transcription factor AP-2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:10802654 NCBI chr 7:44,745,653...44,774,563
Ensembl chr 7:44,745,422...44,770,609
JBrowse link
G TP63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO OMIM NCBI chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,366...97,944,418
JBrowse link
DOORS syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBC1D24 TBC1 domain family member 24 ISO OMIM NCBI chr 3:39,545,688...39,572,320 JBrowse link
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH3 cadherin 3 ISO OMIM NCBI chr 6:18,190,971...18,236,184
Ensembl chr 6:18,191,664...18,235,862
JBrowse link
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO OMIM NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
JBrowse link
Eiken syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTH1R parathyroid hormone 1 receptor ISO OMIM NCBI chr13:29,749,940...29,775,361
Ensembl chr13:29,753,308...29,775,371
JBrowse link
Frank-Ter Haar syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SH3PXD2B SH3 and PX domains 2B ISO OMIM NCBI chr16:51,733,170...51,858,774
Ensembl chr16:51,733,131...51,858,772
JBrowse link
frontometaphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Frontometaphyseal dysplasia
CTD
ClinVar
PMID:10982489 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15917206 PMID:16299064 PMID:16417552 PMID:16596676 PMID:16822260 PMID:17264970 PMID:17632775 PMID:18414213 PMID:18805826 PMID:20598277 PMID:20844545 PMID:21520333 PMID:21836662 PMID:22522697 PMID:25167861 PMID:25649377 PMID:25741868 PMID:26404489 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,142...124,917,171
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:58,482,046...58,548,087
Ensembl chr 1:58,481,956...58,548,057
JBrowse link
frontometaphyseal dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO OMIM NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,142...124,917,171
JBrowse link
frontometaphyseal dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 ISO OMIM NCBI chr 1:58,482,046...58,548,087
Ensembl chr 1:58,481,956...58,548,057
JBrowse link
Fuhrmann syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT7A Wnt family member 7A ISO OMIM NCBI chr13:70,538,802...70,602,464
Ensembl chr13:70,538,894...70,602,455
JBrowse link
Growth Mental Deficiency Syndrome of Myhre term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LTBP3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease ClinVar PMID:25741868 PMID:29625025 NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,340...6,720,172
JBrowse link
G SMAD4 SMAD family member 4 ISO OMIM NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,514,791...100,628,029
JBrowse link
hand-foot-genital syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA13 homeobox A13 ISO OMIM NCBI chr18:45,373,340...45,379,046
Ensembl chr18:45,373,440...45,380,300
JBrowse link
Heart-Hand Syndrome, Slovenian Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO OMIM NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR1 fibroblast growth factor receptor 1 ISO OMIM NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
Holt-Oram syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LYPLAL1 lysophospholipase like 1 ISO ClinVar Annotator: match by term: Holt-Oram syndrome ClinVar PMID:22772368 PMID:23102774 PMID:26854089 PMID:28492532 NCBI chr10:8,946,463...9,061,033
Ensembl chr10:8,946,487...9,062,412
JBrowse link
G SALL4 spalt like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism
DNA:deletion, nonsense mutations:exon:c.326delC, p.K175X, p.R617X (human)
CTD
RGD
PMID:12843316 PMID:30067223 RGD:11556209 NCBI chr17:53,082,610...53,103,023
Ensembl chr17:52,936,173...53,103,190
JBrowse link
G TBX5 T-box transcription factor 5 ISO OMIM NCBI chr14:37,772,205...37,826,015
Ensembl chr14:37,773,605...37,824,400
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Holt-Oram syndrome ClinVar PMID:1631557 PMID:3476488 PMID:8819159 PMID:9536098 PMID:17576681 PMID:22772368 PMID:22772371 PMID:23102774 PMID:24033266 PMID:24440784 PMID:24465802 PMID:24577266 PMID:25046559 PMID:25049390 PMID:25644172 PMID:25741868 PMID:26017485 PMID:26854089 PMID:27782106 PMID:28468283 PMID:28492532 PMID:28633253 PMID:28655553 PMID:29392890 PMID:29510914 PMID:29543232 PMID:29907982 PMID:31191903 PMID:31915033 NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,424...8,405,771
JBrowse link
hydrolethalus syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYLS1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 NCBI chr 9:53,008,944...53,027,307
Ensembl chr 9:53,010,375...53,026,408
JBrowse link
G KIF7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,593...55,220,497
JBrowse link
G PUS3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 NCBI chr 9:53,018,878...53,028,605
Ensembl chr 9:53,018,875...53,028,555
JBrowse link
hydrolethalus syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYLS1 HYLS1 centriolar and ciliogenesis associated ISO OMIM NCBI chr 9:53,008,944...53,027,307
Ensembl chr 9:53,010,375...53,026,408
JBrowse link
G KIF7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,593...55,220,497
JBrowse link
G PUS3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome 1 ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 NCBI chr 9:53,018,878...53,028,605
Ensembl chr 9:53,018,875...53,028,555
JBrowse link
hydrolethalus syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF7 kinesin family member 7 ISO OMIM NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,593...55,220,497
JBrowse link
IVIC syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SALL4 spalt like transcription factor 4 ISO OMIM NCBI chr17:53,082,610...53,103,023
Ensembl chr17:52,936,173...53,103,190
JBrowse link
Keutel Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MGP matrix Gla protein ISO OMIM NCBI chr 5:57,665,272...57,669,360
Ensembl chr 5:57,665,248...57,669,764
JBrowse link
Laurin-Sandrow syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 ISO OMIM NCBI chr18:1,795,462...1,934,951
Ensembl chr18:1,795,490...1,934,949
JBrowse link
Melnick-Needles syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO OMIM NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,142...124,917,171
JBrowse link
Microcephaly with Mental Retardation and Digital Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBBP8 RB binding protein 8, endonuclease ISO OMIM NCBI chr 6:107,923,921...108,020,067
Ensembl chr 6:107,924,002...108,022,669
JBrowse link
Multiple Synostoses Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF9 fibroblast growth factor 9 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chr11:1,554,648...1,581,938
Ensembl chr11:1,554,763...1,582,408
JBrowse link
G GDF5 growth differentiation factor 5 ISO DNA:missense mutation:cds:p.R438L(1313G>T)(human)
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
RGD
ClinVar
PMID:16532400 RGD:12738199 NCBI chr17:38,792,854...38,796,806
Ensembl chr17:38,792,323...38,797,446
JBrowse link
G NOG noggin ISO OMIM NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
JBrowse link
otopalatodigital syndrome spectrum disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO DNA:deletion:cds:c.4904_4912del (human)
ClinVar Annotator: match by term: Otopalatodigital spectrum disorder
RGD
ClinVar
PMID:15654694 PMID:16596676 RGD:11565126 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,142...124,917,171
JBrowse link
otopalatodigital syndrome type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO OMIM NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,142...124,917,171
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16783569 NCBI chr  X:10,361,403...10,415,502 JBrowse link
otopalatodigital syndrome type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO OMIM NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,142...124,917,171
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 OMIM NCBI chr12:2,285,679...2,311,750
Ensembl chr12:2,285,225...2,311,750
JBrowse link
Schinzel-Giedion Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SETBP1 SET binding protein 1 ISO OMIM NCBI chr 1:94,295,332...94,666,560
Ensembl chr 1:94,295,637...94,663,029
JBrowse link
split hand-foot malformation 1 with sensorineural hearing loss term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLX5 distal-less homeobox 5 ISO OMIM NCBI chr 9:76,639,915...76,643,689
Ensembl chr 9:76,639,561...76,643,884
JBrowse link
syndactyly type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF16 fibroblast growth factor 16 ISO OMIM NCBI chr  X:61,551,487...61,561,807
Ensembl chr  X:61,551,780...61,561,230
JBrowse link
Synpolydactyly 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBLN1 fibulin 1 ISO OMIM NCBI chr 5:3,839,498...3,927,178
Ensembl chr 5:3,839,501...3,927,183
JBrowse link
tarsal-carpal coalition syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOG noggin ISO OMIM NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
JBrowse link
terminal osseous dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO OMIM NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,142...124,917,171
JBrowse link
thrombocytopenia-absent radius syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD34A ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 4:99,377,555...99,382,322
Ensembl chr 4:99,378,714...99,382,838
JBrowse link
G ANKRD35 ankyrin repeat domain 35 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 4:99,441,264...99,460,877
Ensembl chr 4:99,442,901...99,460,869
JBrowse link
G HJV hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 4:99,327,989...99,332,647
Ensembl chr 4:99,328,053...99,332,647
JBrowse link
G ITGA10 integrin subunit alpha 10 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 4:99,422,469...99,440,756
Ensembl chr 4:99,415,415...99,440,756
JBrowse link
G LIX1L limb and CNS expressed 1 like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 4:99,384,293...99,403,554
Ensembl chr 4:99,384,394...99,404,893
JBrowse link
G NUDT17 nudix hydrolase 17 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 4:99,472,347...99,477,953
Ensembl chr 4:99,472,350...99,477,932
JBrowse link
G PEX11B peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 4:99,415,403...99,422,324 JBrowse link
G PIAS3 protein inhibitor of activated STAT 3 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 4:99,463,418...99,475,141
Ensembl chr 4:99,465,690...99,475,140
JBrowse link
G POLR3C RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 4:99,480,213...99,494,137
Ensembl chr 4:99,472,354...99,494,142
JBrowse link
G POLR3GL RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 4:99,362,945...99,380,299 JBrowse link
G RBM8A RNA binding motif protein 8A ISO OMIM NCBI chr 4:99,408,422...99,411,964
Ensembl chr 4:99,408,464...99,413,492
JBrowse link
G TXNIP thioredoxin interacting protein ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr 4:99,348,589...99,351,760
Ensembl chr 4:99,348,575...99,352,241
JBrowse link
trichorhinophalangeal syndrome type III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPS1 transcriptional repressor GATA binding 1 ISO OMIM NCBI chr 4:22,905,627...23,162,862
Ensembl chr 4:22,911,039...23,158,769
JBrowse link
Triphalangeal Thumb 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 ClinVar PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 PMID:24777739 NCBI chr18:1,795,462...1,934,951
Ensembl chr18:1,795,490...1,934,949
JBrowse link
Van Maldergem syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCHS1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 9:3,099,525...3,134,825
Ensembl chr 9:3,113,451...3,134,821
JBrowse link
G FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Van Maldergem syndrome
CTD
ClinVar
PMID:24033266 PMID:24056717 NCBI chr 8:99,141,967...99,312,131 JBrowse link
Van Maldergem syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCHS1 dachsous cadherin-related 1 ISO OMIM NCBI chr 9:3,099,525...3,134,825
Ensembl chr 9:3,113,451...3,134,821
JBrowse link
Van Maldergem syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAT4 FAT atypical cadherin 4 ISO OMIM NCBI chr 8:99,141,967...99,312,131 JBrowse link
Vohwinkel syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO OMIM NCBI chr11:774,090...781,252 JBrowse link
Weaver syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO OMIM NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,384,995...109,450,941
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Weaver syndrome
CTD
ClinVar
PMID:12807965 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,378...80,809,059
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:25741868 PMID:30019515 NCBI chr12:42,983,597...43,032,671
Ensembl chr12:42,983,997...43,032,644
JBrowse link
X-linked Aarskog syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGD1 FYVE, RhoGEF and PH domain containing 1 ISO OMIM NCBI chr  X:47,191,838...47,231,656
Ensembl chr  X:47,192,423...47,231,342
JBrowse link
Zimmerman Laband Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25915598 NCBI chr14:4,289,257...4,318,587
Ensembl chr14:4,289,340...4,318,579
JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Laband syndrome
CTD
ClinVar
PMID:25741868 PMID:25915598 PMID:26264464 PMID:26818738 PMID:32581362 PMID:32860008 NCBI chr 9:131,960,566...132,336,029 JBrowse link
Zimmermann-Laband Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 ClinVar PMID:18541964 PMID:23994350 PMID:25915598 NCBI chr14:4,289,257...4,318,587
Ensembl chr14:4,289,340...4,318,579
JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 ISO OMIM NCBI chr 9:131,960,566...132,336,029 JBrowse link
Zimmermann-Laband Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 ISO OMIM NCBI chr14:4,289,257...4,318,587
Ensembl chr14:4,289,340...4,318,579
JBrowse link
Zimmermann-Laband Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNN3 potassium calcium-activated channel subfamily N member 3 ISO OMIM NCBI chr 4:94,913,631...95,112,845
Ensembl chr 4:94,915,965...95,113,276
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13437
    disease of anatomical entity 13099
      musculoskeletal system disease 5645
        Musculoskeletal Abnormalities 2081
          Congenital Limb Deformities 432
            Congenital Upper Extremity Deformities 89
              Congenital Hand Deformities + 74
              Cubitus Valgus with Mental Retardation and Unusual Facies 0
              Fryns Hofkens Fabry Syndrome 0
              Holt-Oram syndrome 4
              Hypomelia Mullerian Duct Anomalies 0
              Ophthalmomandibulomelic Dysplasia 0
              Radio Renal Syndrome 0
              Tamari Goodman Syndrome 0
              Terminal Transverse Defects of Arm 0
              Ulnar Hypoplasia Lobster Claw Deformity of Feet 0
              thrombocytopenia-absent radius syndrome 12
Path 2
Term Annotations click to browse term
  disease 13437
    Developmental Disease 9921
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8293
        Congenital Abnormalities 4990
          Musculoskeletal Abnormalities 2081
            Congenital Limb Deformities 432
              Congenital Upper Extremity Deformities 89
                Congenital Hand Deformities + 74
                Cubitus Valgus with Mental Retardation and Unusual Facies 0
                Fryns Hofkens Fabry Syndrome 0
                Holt-Oram syndrome 4
                Hypomelia Mullerian Duct Anomalies 0
                Ophthalmomandibulomelic Dysplasia 0
                Radio Renal Syndrome 0
                Tamari Goodman Syndrome 0
                Terminal Transverse Defects of Arm 0
                Ulnar Hypoplasia Lobster Claw Deformity of Feet 0
                thrombocytopenia-absent radius syndrome 12
paths to the root