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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:brachydactyly
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Accession:DOID:0050581 term browser browse the term
Definition:A dysostosis characterized by short fingers and toes. (DO)
Synonyms:exact_synonym: Brachydactylia;   Brachydactylies;   Brachydactylism;   brachydactylias;   brachydactylisms
 primary_id: MESH:D059327
 xref: GARD:11913;   ORDO:294937


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:74,916,548...75,062,880
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:22374147 PMID:25741868 PMID:25758993 PMID:28492532 NCBI chr 2:233,211,525...233,544,344
Ensembl chr 2:230,541,558...230,871,368 		JBrowse link
G Chst11 carbohydrate sulfotransferase 11 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:29514872 NCBI chr 7:22,412,121...22,630,577
Ensembl chr 7:20,528,100...20,743,111 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:17384641 PMID:25741868 PMID:28492532 NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:12719376 NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Hdac4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20691407 NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164 		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 3:79,978,077...79,981,393
Ensembl chr 3:59,570,646...59,573,963 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:25741868 NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:76,504,315...76,510,532 		JBrowse link
G Iqce IQ motif containing E ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:25741868 PMID:28488682 PMID:31549751 PMID:35599849 NCBI chr12:13,943,290...13,982,708
Ensembl chr12:13,943,487...13,982,693 		JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:25741868 NCBI chr 2:59,126,676...59,314,841
Ensembl chr 2:57,399,445...57,565,899 		JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 NCBI chr19:51,020,596...51,071,401
Ensembl chr19:34,110,747...34,162,577 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar NCBI chr17:12,124,749...12,300,044
Ensembl chr17:11,972,830...12,148,152 		JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212 		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 chr18:56,918,662...56,937,032
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158539 NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438 		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 More... NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:81,921,601...82,141,905 		JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:15024725 PMID:19339744 PMID:23847139 PMID:24265693 PMID:25741868 More... NCBI chr20:6,413,901...6,425,833
Ensembl chr20:6,412,171...6,424,073 		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)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrocapitofemoral dysplasia		 CTD
ClinVar
OMIM
RGD		 PMID:12624140 PMID:12632327 PMID:25741868 PMID:28492532 PMID:34530144 More... RGD:1600033 NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:76,504,315...76,510,532 		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 3:164,914,401...164,918,593
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO
ISS		 DNA:missense mutations:CDS:p.E95K (283G>A), p.D100E (300C>A), p.E131K (391G>A) (human)
ClinVar Annotator: match by term: Brachydactyly Farabee type | ClinVar Annotator: match by term: Brachydactyly type A1 | ClinVar Annotator: match by term: IHH-related condition
CTD Direct Evidence: marker/mechanism
OMIM:112500
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
CTD
MouseDO
OMIM
RGD		 PMID:11455389 PMID:12384778 PMID:12525541 PMID:12566523 PMID:14043746 More... RGD:1600032, RGD:12910974, RGD:11535949, RGD:12910970, RGD:12910965, RGD:12910964, RGD:12910945, RGD:12910944 NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:76,504,315...76,510,532 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:15841179 RGD:12798572 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170 		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
ISS		 OMIM:615072
ClinVar Annotator: match by term: Brachydactyly type A1C | ClinVar Annotator: match by term: Brachydactyly, type a1, c		 OMIM
MouseDO
ClinVar		 PMID:9288098 PMID:20683927 PMID:25741868 NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:144,454,338...144,458,612 		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 A1D ClinVar
OMIM		 PMID:25758993 NCBI chr 2:233,211,525...233,544,344
Ensembl chr 2:230,541,558...230,871,368 		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 term: Type A2 brachydactyly
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19327734 PMID:21357617 PMID:25741868 PMID:28492532 NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Type A2 brachydactyly
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14523231 PMID:15805157 PMID:16199547 PMID:16957682 More... NCBI chr 2:233,211,525...233,544,344
Ensembl chr 2:230,541,558...230,871,368 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO
ISS		 ClinVar Annotator: match by term: Mohr-Wriedt type brachydactyly | ClinVar Annotator: match by term: Type A2 brachydactyly
OMIM:112600
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8589725 PMID:9288091 PMID:12121354 PMID:12357473 PMID:16014698 More... NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:144,454,338...144,458,612 		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 3:79,978,077...79,981,393
Ensembl chr 3:59,570,646...59,573,963 		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
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) 		OMIM
ClinVar
CTD
RGD		 PMID:641944 PMID:9536098 PMID:10700182 PMID:10932186 PMID:10932187 More... RGD:11537345, RGD:11535953, RGD:11535952, RGD:11535951, RGD:11535949 NCBI chr17:12,124,749...12,300,044
Ensembl chr17:11,972,830...12,148,152 		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:		 OMIM
ClinVar
RGD		 PMID:9851982 PMID:10080184 PMID:11160400 PMID:11545688 PMID:11857750 More... RGD:12801483, RGD:12801481 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,128,712...74,130,339 		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
ISS		 ClinVar Annotator: match by term: Brachydactyly Haws type | ClinVar Annotator: match by term: Brachydactyly type C
OMIM:113100
CTD Direct Evidence: marker/mechanism
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)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:8589725 PMID:9024575 PMID:9288091 PMID:12121354 PMID:12357473 More... RGD:12738202, RGD:12738200, RGD:12437083 NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:144,454,338...144,458,612 		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 ClinVar Annotator: match by term: Brachydactyly type D | ClinVar Annotator: match by term: STUB THUMB
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12620993 PMID:12649808 PMID:16314414 PMID:24239177 PMID:25741868 More... NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:59,570,646...59,573,963 		JBrowse link
brachydactyly type E1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Brachydactyly syndrome type E ClinVar PMID:10958686 PMID:11486037 PMID:25741868 PMID:33537682 NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: Brachydactyly type E1 OMIM
ClinVar		 PMID:8614804 PMID:9207113 PMID:12414828 PMID:15333588 PMID:19075394 More... NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:59,570,646...59,573,963 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Brachydactyly type E1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:110,697,485...110,719,729 		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 term: Brachydactyly type E2 | ClinVar Annotator: match by term: PTHLH-related condition OMIM
ClinVar		 PMID:20170896 PMID:25741868 PMID:25801215 PMID:26640227 PMID:26763883 More... NCBI chr 4:181,919,400...181,930,454
Ensembl chr 4:180,188,792...180,199,847 		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 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hoxd13 homeo box D13 ISO DNA:nonsense mutation:exon:p.R274X (c.820C>T) (human)
ClinVar Annotator: match by term: Brachydactyly type E		 ClinVar
RGD		 PMID:12620993 PMID:12649808 PMID:16314414 PMID:22233338 RGD:12743596 NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:59,570,646...59,573,963 		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		 OMIM
ClinVar
CTD		 PMID:17236141 PMID:22233338 PMID:23995701 PMID:24239177 PMID:25741868 NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:59,570,646...59,573,963 		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 ClinVar Annotator: match by term: Liebenberg syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:8,794,051...8,805,477
Ensembl chr17:8,794,134...8,800,291 		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 term: HDAC6-related condition | ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type OMIM
ClinVar		 PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 NCBI chr  X:17,222,538...17,244,373
Ensembl chr  X:14,551,044...14,572,441 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial digital arthropathy-brachydactyly		 OMIM
CTD
ClinVar		 PMID:4056805 PMID:8179305 PMID:11891693 PMID:20037586 PMID:20037587 More... NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
fibular hypoplasia and complex brachydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Du pan syndrome ClinVar PMID:228900 PMID:258150 NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO
ISS		 ClinVar Annotator: match by term: Acromesomelic dysplasia 2B | ClinVar Annotator: match by term: Du pan syndrome
OMIM:228900
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:T1322C (p.L441P)(human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:12121354 PMID:16014698 PMID:16127465 PMID:17384641 PMID:18629880 More... RGD:12437084 NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
Grange Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: Grange syndrome | ClinVar Annotator: match by term: YY1AP1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:176,617,151...176,645,293
Ensembl chr 2:174,318,983...174,346,461 		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 | ClinVar Annotator: match by term: Brachydactyly type E with short stature and hypertension | ClinVar Annotator: match by term: PDE3A-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4774535 PMID:25741868 PMID:25961942 PMID:28492532 PMID:29758562 More... NCBI chr 4:175,904,276...176,170,531
Ensembl chr 4:174,172,868...174,438,274 		JBrowse link
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | ClinVar Annotator: match by term: RUNX2-related condition		 OMIM
CTD
ClinVar		 PMID:9207800 PMID:10521292 PMID:10545612 PMID:10980549 PMID:11768584 More... NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
G Supt3h SPT3 homolog, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly ClinVar PMID:23290074 NCBI chr 9:23,375,889...23,704,229
Ensembl chr 9:15,868,287...16,206,706 		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 PMID:25741868 NCBI chr15:36,325,552...36,369,995
Ensembl chr15:32,210,074...32,253,309 		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
RGD		 PMID:16532400 RGD:12738199 NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:mutation:cds:1426G>C (P.W205C)(Human)		 ClinVar
OMIM
RGD		 PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... RGD:1600234, RGD:12801467 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,128,712...74,130,339 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHSY1-related condition | ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome		 OMIM
CTD
ClinVar		 PMID:9823490 PMID:19952732 PMID:21129727 PMID:21129728 PMID:25741868 More... NCBI chr 1:129,100,088...129,161,167
Ensembl chr 1:119,686,350...119,750,601 		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 PMID:28492532 NCBI chr15:38,259,907...38,271,269
Ensembl chr15:38,259,928...38,270,316 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      bone development disease 2387
        dysostosis 639
          brachydactyly 33
            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 E + 4
            Brachydactyly-Nystagmus-Cerebellar Ataxia 0
            Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 1
            Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 0
            Coloboma of Macula and Skeletal Anomalies 0
            Coloboma of Macula with Type B Brachydactyly 0
            Cryptomicrotia-Brachydactyly Syndrome 0
            Digital Arthropathy-Brachydactyly, Familial 1
            Fibular Aplasia Ectrodactyly 0
            Fitzsimmons-Guilbert Syndrome 0
            GOMBO Syndrome 0
            Grange Syndrome 1
            Kumar Levick Syndrome 0
            Mononen-Karnes-Senac syndrome 0
            Prata Libéral Gonçalves Syndrome 0
            Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 0
            Robin Sequence with Distinctive Facial Appearance and Brachydactyly 0
            Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 0
            Sillence Syndrome 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
            chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1
            fibular hypoplasia and complex brachydactyly 2
            heart-hand syndrome type 3 0
            hypertension and brachydactyly syndrome 1
            metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome 2
            multiple synostoses syndrome 1 3
            spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 0
            temtamy preaxial brachydactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      Skin and Connective Tissue Diseases 7774
        connective tissue disease 5918
          bone disease 4368
            bone development disease 2387
              dysostosis 639
                brachydactyly 33
                  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 E + 4
                  Brachydactyly-Nystagmus-Cerebellar Ataxia 0
                  Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 1
                  Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 0
                  Coloboma of Macula and Skeletal Anomalies 0
                  Coloboma of Macula with Type B Brachydactyly 0
                  Cryptomicrotia-Brachydactyly Syndrome 0
                  Digital Arthropathy-Brachydactyly, Familial 1
                  Fibular Aplasia Ectrodactyly 0
                  Fitzsimmons-Guilbert Syndrome 0
                  GOMBO Syndrome 0
                  Grange Syndrome 1
                  Kumar Levick Syndrome 0
                  Mononen-Karnes-Senac syndrome 0
                  Prata Libéral Gonçalves Syndrome 0
                  Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 0
                  Robin Sequence with Distinctive Facial Appearance and Brachydactyly 0
                  Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 0
                  Sillence Syndrome 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
                  chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1
                  fibular hypoplasia and complex brachydactyly 2
                  heart-hand syndrome type 3 0
                  hypertension and brachydactyly syndrome 1
                  metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome 2
                  multiple synostoses syndrome 1 3
                  spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 0
                  temtamy preaxial brachydactyly syndrome 1
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