Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:brachydactyly
go back to main search page
Accession:DOID:0050581 term browser browse the term
Definition:Congenital anomaly of abnormally short fingers or toes.
Synonyms:exact_synonym: Brachydactylia;   Brachydactylias;   Brachydactylies;   Brachydactylism;   Brachydactylisms
 primary_id: MESH:D059327;   RDO:0009964
 xref: GARD:11913;   ORDO:294937
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
brachydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO RGD PMID:23892236 RGD:9586033 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:28492532 NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
JBrowse link
G Chst11 carbohydrate sulfotransferase 11 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:29514872 NCBI chr 7:26,641,856...26,890,503
Ensembl chr 7:26,645,422...26,859,716
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:30311386 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:30311386 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:17384641, PMID:25741868, PMID:28492532 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:12719376 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Hdac4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20691407 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:30311386 NCBI chr13:96,222,093...96,238,845
Ensembl chr13:96,225,912...96,238,572
JBrowse link
G Hoxd13 homeo box D13 ISO DNA:missense mutations:exon:p.S308C (923C>G), p.I314L (940A>C) (human) RGD PMID:12649808 RGD:12743593 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Brachydactyly ClinVar NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
JBrowse link
G Iqce IQ motif containing E ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:31549751 NCBI chr12:16,030,607...16,069,872
Ensembl chr12:15,857,805...16,067,924
JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:9288094, PMID:9288758, PMID:9781020, PMID:10364520, PMID:10787449, PMID:11464248, PMID:15643295, PMID:15942916, PMID:16785446, PMID:16889173, PMID:18353061, PMID:19790133, PMID:20008920, PMID:21290976, PMID:22037353, PMID:23334425, PMID:23907647, PMID:24318677, PMID:25741868, PMID:27030597, PMID:28492532, PMID:30171907, PMID:30311386 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: BRACHYDACTYLY ClinVar PMID:25741868 NCBI chr 2:57,508,830...57,676,197
Ensembl chr 2:57,509,428...57,600,820
JBrowse link
G Nprl3 NPR3-like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:30311386 NCBI chr10:15,620,824...15,661,332
Ensembl chr10:15,620,871...15,661,331
JBrowse link
G Ppp2r1a protein phosphatase 2 scaffold subunit A alpha ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:25741868, PMID:26168268 NCBI chr 1:60,717,386...60,736,629
Ensembl chr 1:60,717,386...60,736,609
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:30311386 NCBI chr  X:15,448,570...15,453,130
Ensembl chr  X:15,348,138...15,453,130
JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:30311386 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar NCBI chr20:55,590,810...55,674,002
Ensembl chr20:55,594,676...55,673,995
JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human) RGD PMID:21155763 RGD:11072411 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158539 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:11112658, PMID:18946009, PMID:24502542, PMID:25741868, PMID:25792522, PMID:28468609, PMID:28492532, PMID:30541476 NCBI chr 7:90,085,895...90,320,430
Ensembl chr 7:90,090,828...90,318,221
JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:15024725, PMID:31549751 NCBI chr20:7,931,673...7,943,601
Ensembl chr20:7,931,674...7,943,575
JBrowse link
acrocapitofemoral dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ihh Indian hedgehog signaling molecule ISO DNA:point mutations:CDS:p.P46L (137C>T), p.V190A (T569T>C) (human)
ClinVar Annotator: match by term: Acrocapitofemoral dysplasia
ClinVar Annotator: match by OMIM:607778
ClinVar
OMIM
PMID:12632327, PMID:12632327 RGD:1600033 NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
JBrowse link
brachydactyly type A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO DNA:missense mutation:cds:c.1195C>T(human) RGD PMID:20683927 RGD:12437076 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO DNA:missense mutations:CDS:p.E95K (283G>A), p.D100E (300C>A), p.E131K (391G>A) (human)
ClinVar Annotator: match by term: Type A1 brachydactyly
DNA:missense mutation:exon:p.E95G (284A>G) (human)
DNA:deletion, missense mutation:exon:p.E95del (c.283_285delGAG), p.D100E (c.300C>G) (human)
DNA:missense mutation:exon:p.158R>C (c.472C>T) (human)
DNA:deletion:exon:p.E95del (c.283_285delGAG) (human)
DNA:missense mutations:exon:p.R128Q (c.383G>A), p.T130N (c.389C>A) (human)
DNA:missense mutation: :p.N100D (298G>A) (human)
DNA:missense mutation: :p.T154I (461C>T) (human)
ClinVar Annotator: match by OMIM:112500
ClinVar
OMIM
PMID:11455389, PMID:12384778, PMID:12525541, PMID:12566523, PMID:14043746, PMID:15886999, PMID:16871364, PMID:17486609, PMID:18629882, PMID:18794898, PMID:19252479, PMID:19277064, PMID:25741868, PMID:28492532, PMID:11455389, PMID:12525541, PMID:25696018, PMID:19464397, PMID:18629882, PMID:19277064, PMID:12384778, PMID:16871364 RGD:1600032, RGD:12910974, RGD:11535949, RGD:12910970, RGD:12910965, RGD:12910964, RGD:12910945, RGD:12910944 NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
JBrowse link
G Shh sonic hedgehog signaling molecule ISO
ISS
OMIM:112500 MouseDO PMID:15841179 RGD:12798572 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
brachydactyly type A1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Brachydactyly, type a1, c OMIM
ClinVar
PMID:20683927 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
brachydactyly type A1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Brachydactyly, type a1, d ClinVar
OMIM
PMID:25758993 NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
JBrowse link
brachydactyly type A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by null OMIM
ClinVar
PMID:19327734, PMID:21357617 NCBI chr 3:126,335,963...126,346,771
Ensembl chr 3:126,335,863...126,346,318
JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Brachydactyly type A2
ClinVar Annotator: match by OMIM:112600
OMIM
ClinVar
PMID:14523231, PMID:16957682, PMID:28492532 NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by OMIM:112600 OMIM
ClinVar
PMID:12121354, PMID:16014698, PMID:16127465, PMID:18203755 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
brachydactyly type A4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd13 homeo box D13 ISO DNA:deletion:exon:p.A53_A59del (c.157_177del) (human) RGD PMID:17236141 RGD:12738470 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
brachydactyly type B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Brachydactyly type B1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Type B brachydactyly
DNA:nonsense mutation:cds:c.2278C>T, p.Q760X (human)
DNA:deletion:exon:c.1396-1398delAA, (human)
DNA:missense mutation:cds:c.2265C>A,p.Y755X(human)
DNA:deletion mutation:exon:c.2243delC,p.W749fsX24(human)
DNA:mutation:c.2273C>A; p.S758X (human)
ClinVar Annotator: match by OMIM:113000
OMIM
ClinVar
CTD
PMID:641944, PMID:10700182, PMID:10986040, PMID:12815588, PMID:12919145, PMID:17101003, PMID:17665217, PMID:18252861, PMID:18414213, PMID:19461659, PMID:19533773, PMID:25741868, PMID:26284319, PMID:28492532, PMID:23238279, PMID:24954533, PMID:21377971, PMID:19461659, PMID:25696018 RGD:11537345, RGD:11535953, RGD:11535952, RGD:11535951, RGD:11535949 NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
JBrowse link
brachydactyly type B2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nog noggin no_association ISO ClinVar Annotator: match by term: Brachydactyly type B2
DNA:mutation:cds:p.G92E(human)
DNA:mutations:cds:
ClinVar Annotator: match by OMIM:611377
OMIM
ClinVar
PMID:9851982, PMID:11160400, PMID:11857750, PMID:17668388, PMID:18440889, PMID:25741868, PMID:22529972, PMID:17668388 RGD:12801483, RGD:12801481 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
brachydactyly type C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO DNA:mutation:cds:p.M173V(517A>G)(human)
DNA:missense mutations:cds:p.T201P,p.L263P (human)
DNA:missense mutation:cds:c.527T>C(p.L176P)(human)
ClinVar Annotator: match by OMIM:113100
OMIM
ClinVar
PMID:9024575, PMID:9288091, PMID:12357473, PMID:12567410, PMID:13953230, PMID:14735582, PMID:18283415, PMID:14735582, PMID:25092592, PMID:23812741 RGD:12738202, RGD:12738200, RGD:12437083 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
brachydactyly type D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd13 homeo box D13 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:113200
OMIM
CTD
ClinVar
PMID:12620993, PMID:12649808, PMID:16314414, PMID:24239177 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
brachydactyly type E1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: Brachydactyly type E1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:113300
OMIM
ClinVar
CTD
PMID:12620993, PMID:12649808, PMID:16314414, PMID:24239177, PMID:25741868 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
brachydactyly type E2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pthlh parathyroid hormone-like hormone ISO ClinVar Annotator: match by OMIM:613382 OMIM
ClinVar
PMID:20170896 NCBI chr 4:181,663,425...181,674,181 JBrowse link
Brachydactyly, Type E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24715439 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Hoxd13 homeo box D13 ISO DNA:nonsense mutation:exon:p.R274X (c.820C>T) (human) RGD PMID:22233338 RGD:12743596 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
brachydactyly-syndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: Brachydactyly-syndactyly syndrome
ClinVar Annotator: match by term: Brachydactyly-syndactyly-oligodactyly syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:610713
OMIM
ClinVar
CTD
PMID:9758628, PMID:12649808, PMID:17236141, PMID:18177473, PMID:18399101, PMID:19429598, PMID:19686284, PMID:21814222, PMID:22233338, PMID:23995701, PMID:24239177, PMID:25741868, PMID:26581570, PMID:30311386 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx1 paired-like homeodomain 1 ISO OMIM NCBI chr17:8,873,184...8,884,428
Ensembl chr17:8,878,270...8,884,423
JBrowse link
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by OMIM:300863 OMIM
ClinVar
PMID:16001442, PMID:20181727 NCBI chr  X:15,295,372...15,316,673
Ensembl chr  X:15,295,473...15,316,671
JBrowse link
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by null ClinVar PMID:9182765 NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
JBrowse link
Digital Arthropathy-Brachydactyly, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Digital arthropathy-brachydactyly, familial
ClinVar Annotator: match by OMIM:606835
OMIM
ClinVar
PMID:956253, PMID:1520078, PMID:4056805, PMID:8179305, PMID:11891693, PMID:14755468, PMID:18587396, PMID:19232556, PMID:20037586, PMID:20037587, PMID:20037588, PMID:20104247, PMID:20425821, PMID:20460441, PMID:20503319, PMID:20577006, PMID:21115951, PMID:21288981, PMID:21336783, PMID:21454511, PMID:21964574, PMID:22702953, PMID:22791502, PMID:22851605, PMID:24575025, PMID:24677493, PMID:24789864, PMID:25256292, PMID:25741868, PMID:25900305, PMID:26110311, PMID:26249260, PMID:26467025, PMID:27330106, PMID:28492532, PMID:28898540 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
fibular hypoplasia and complex brachydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Fibular hypoplasia and complex brachydactyly
DNA:missense mutation:cds:T1322C (p.L441P)(human)
ClinVar Annotator: match by OMIM:228900
OMIM
ClinVar
PMID:12121354, PMID:16014698, PMID:16127465, PMID:16222676, PMID:17384641, PMID:18629880, PMID:25741868, PMID:28492532, PMID:12121354 RGD:12437084 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
hypertension and brachydactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde3a phosphodiesterase 3A ISO ClinVar Annotator: match by term: Bilginturan syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:112410
OMIM
ClinVar
CTD
PMID:4774535, PMID:25961942 NCBI chr 4:175,431,904...175,703,844
Ensembl chr 4:175,431,904...175,700,238
JBrowse link
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly OMIM
ClinVar
PMID:23290074, PMID:25741868, PMID:29891876 NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
JBrowse link
G Supt3h SPT3 homolog, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly ClinVar PMID:23290074 NCBI chr 9:18,249,565...18,604,814
Ensembl chr 9:18,319,246...18,371,856
JBrowse link
Multiple Synostoses Syndrome 1 term browser
Symbol Object Name Qualifiers 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 chr15:38,341,657...38,386,945
Ensembl chr15:38,341,089...38,387,316
JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:missense mutation:cds:p.R438L(1313G>T)(human)
ClinVar PMID:16532400 RGD:12738199 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:mutation:cds:1426G>C (P.W205C)(Human)
ClinVar Annotator: match by OMIM:186500
ClinVar
OMIM
PMID:3667255, PMID:6638061, PMID:10080184, PMID:11846737, PMID:15770128, PMID:16532400, PMID:17609215, PMID:20503332, PMID:25741868, PMID:10080184, PMID:16151340 RGD:1600234, RGD:12801467 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO ClinVar Annotator: match by null ClinVar PMID:11583302, PMID:12719376 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
temtamy preaxial brachydactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chsy1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome
ClinVar Annotator: match by OMIM:605282
OMIM
ClinVar
PMID:9823490, PMID:19952732, PMID:21129727, PMID:21129728, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:127,010,587...127,071,570
Ensembl chr 1:127,010,588...127,071,570
JBrowse link
Ulnar/Fibular Ray Defect and Brachydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Ulnar/fibular ray defect and brachydactyly ClinVar NCBI chr15:47,344,380...47,384,461
Ensembl chr15:47,373,120...47,383,508
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      bone development disease 1336
        dysostosis 342
          brachydactyly 37
            Ballard syndrome 0
            Berk-Tabatznik Syndrome 0
            Bork Stender Schmidt Syndrome 0
            Brachydactyly Type A5 Nail Dysplasia 0
            Brachydactyly, Coloboma, and Anterior Segment Dysgenesis 0
            Brachydactyly, Intraventricular Septal Defect, and Deafness 0
            Brachydactyly, Long-Thumb Type 0
            Brachydactyly, Type A2, With Microcephaly 0
            Brachydactyly, Type E + 3
            Brachydactyly-Nystagmus-Cerebellar Ataxia 0
            Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 1
            Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 1
            Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 1
            Coloboma of Macula Type B Brachydactyly 0
            Coloboma of Macula and Skeletal Anomalies 0
            Cryptomicrotia Brachydactyly Syndrome 0
            Digital Arthropathy-Brachydactyly, Familial 1
            Fibular Aplasia Ectrodactyly 0
            Fitzsimmons-Guilbert Syndrome 0
            GOMBO Syndrome 0
            Grange Syndrome 0
            Heart-Hand Syndrome, Spanish Type 0
            Hirschsprung Disease Type d Brachydactyly 0
            Kumar Levick Syndrome 0
            Mononen-Karnes-Senac syndrome 0
            Multiple Synostoses Syndrome 1 3
            Prata Libéral Gonçalves Syndrome 0
            Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 1
            Robin Sequence with Distinctive Facial Appearance and Brachydactyly 0
            Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 0
            Sillence Syndrome 0
            Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 0
            Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 0
            Sugarman brachydactyly 0
            Tonoki Syndrome 0
            Ulnar/Fibular Ray Defect and Brachydactyly 1
            acrocapitofemoral dysplasia 1
            brachydactyly type A1 + 4
            brachydactyly type A2 3
            brachydactyly type A3 0
            brachydactyly type A4 1
            brachydactyly type A6 0
            brachydactyly type B1 1
            brachydactyly type B2 1
            brachydactyly type C 1
            brachydactyly type D 1
            brachydactyly-preaxial hallux varus syndrome 0
            brachydactyly-syndactyly syndrome 1
            fibular hypoplasia and complex brachydactyly 1
            hypertension and brachydactyly syndrome 1
            metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 2
            temtamy preaxial brachydactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Skin and Connective Tissue Diseases 5471
        connective tissue disease 4096
          bone disease 3526
            bone development disease 1336
              dysostosis 342
                brachydactyly 37
                  Ballard syndrome 0
                  Berk-Tabatznik Syndrome 0
                  Bork Stender Schmidt Syndrome 0
                  Brachydactyly Type A5 Nail Dysplasia 0
                  Brachydactyly, Coloboma, and Anterior Segment Dysgenesis 0
                  Brachydactyly, Intraventricular Septal Defect, and Deafness 0
                  Brachydactyly, Long-Thumb Type 0
                  Brachydactyly, Type A2, With Microcephaly 0
                  Brachydactyly, Type E + 3
                  Brachydactyly-Nystagmus-Cerebellar Ataxia 0
                  Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 1
                  Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 1
                  Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 1
                  Coloboma of Macula Type B Brachydactyly 0
                  Coloboma of Macula and Skeletal Anomalies 0
                  Cryptomicrotia Brachydactyly Syndrome 0
                  Digital Arthropathy-Brachydactyly, Familial 1
                  Fibular Aplasia Ectrodactyly 0
                  Fitzsimmons-Guilbert Syndrome 0
                  GOMBO Syndrome 0
                  Grange Syndrome 0
                  Heart-Hand Syndrome, Spanish Type 0
                  Hirschsprung Disease Type d Brachydactyly 0
                  Kumar Levick Syndrome 0
                  Mononen-Karnes-Senac syndrome 0
                  Multiple Synostoses Syndrome 1 3
                  Prata Libéral Gonçalves Syndrome 0
                  Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 1
                  Robin Sequence with Distinctive Facial Appearance and Brachydactyly 0
                  Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 0
                  Sillence Syndrome 0
                  Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 0
                  Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 0
                  Sugarman brachydactyly 0
                  Tonoki Syndrome 0
                  Ulnar/Fibular Ray Defect and Brachydactyly 1
                  acrocapitofemoral dysplasia 1
                  brachydactyly type A1 + 4
                  brachydactyly type A2 3
                  brachydactyly type A3 0
                  brachydactyly type A4 1
                  brachydactyly type A6 0
                  brachydactyly type B1 1
                  brachydactyly type B2 1
                  brachydactyly type C 1
                  brachydactyly type D 1
                  brachydactyly-preaxial hallux varus syndrome 0
                  brachydactyly-syndactyly syndrome 1
                  fibular hypoplasia and complex brachydactyly 1
                  hypertension and brachydactyly syndrome 1
                  metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 2
                  temtamy preaxial brachydactyly syndrome 1
paths to the root

NHLBI Logo

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