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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: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:70,850,981...70,997,330
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 2:230,538,252...230,871,077
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 7:20,524,535...20,743,008
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 3:144,454,306...144,458,757
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 3:163,071,003...163,136,350
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 9:92,503,467...92,750,164
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 3:59,570,647...59,573,963
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 NCBI chr 9:76,504,315...76,510,532
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:31549751 NCBI chr12:13,943,290...13,982,708
Ensembl chr12:13,943,487...13,982,693
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 More... NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: BRACHYDACTYLY ClinVar PMID:25741868 NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899
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 1:60,540,223...60,559,467
Ensembl chr 1:60,540,194...60,560,129
JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar NCBI chr17:11,972,830...12,148,152
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 chr18:54,648,276...54,666,627
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 chr18:67,243,742...67,274,438
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 7:81,916,668...82,142,733
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:31549751 NCBI chr20:6,412,170...6,424,312
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)
ClinVar Annotator: match by term: Acrocapitofemoral dysplasia
ClinVar Annotator: match by OMIM:607778
ClinVar
OMIM
RGD
PMID:12632327 PMID:25741868 PMID:12632327 RGD:1600033 NCBI chr 9:76,504,315...76,510,532
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 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
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
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 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
JBrowse link
G Shh sonic hedgehog signaling molecule ISO
ISS
OMIM:112500 MouseDO
RGD
PMID:15841179 RGD:12798572 NCBI chr 4:6,954,017...6,963,170
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 ClinVar Annotator: match by term: Brachydactyly, type a1, c OMIM
ClinVar
PMID:20683927 NCBI chr 3:144,454,306...144,458,757
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 a1, d ClinVar
OMIM
PMID:25758993 NCBI chr 2:230,538,252...230,871,077
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: Brachydactyly type A2
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:19327734 PMID:21357617 PMID:25741868 PMID:28492532 NCBI chr 3:120,812,660...120,822,579
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: Brachydactyly type A2
ClinVar Annotator: match by OMIM:112600
OMIM
ClinVar
PMID:14523231 PMID:16957682 PMID:22374147 PMID:25741868 PMID:25758993 More... NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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 3:144,454,306...144,458,757
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 3:59,570,647...59,573,963
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
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
RGD
PMID:641944 PMID:10700182 PMID:10986040 PMID:12815588 PMID:12919145 More... RGD:11537345, RGD:11535953, RGD:11535952, RGD:11535951, RGD:11535949 NCBI chr17:11,972,830...12,148,152
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:
ClinVar Annotator: match by OMIM:611377
OMIM
ClinVar
RGD
PMID:9851982 PMID:11160400 PMID:11857750 PMID:17668388 PMID:18440889 More... RGD:12801483, RGD:12801481 NCBI chr10:74,128,712...74,130,339
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 ClinVar Annotator: match by term: Brachydactyly type C
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
RGD
PMID:9024575 PMID:9288091 PMID:12357473 PMID:12567410 PMID:13953230 More... RGD:12738202, RGD:12738200, RGD:12437083 NCBI chr 3:144,454,306...144,458,757
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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:113200
OMIM
ClinVar
CTD
PMID:12620993 PMID:12649808 PMID:16314414 PMID:24239177 PMID:25741868 NCBI chr 3:59,570,647...59,573,963
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 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 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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 OMIM:613382
OMIM
ClinVar
PMID:20170896 PMID:25801215 PMID:26763883 PMID:29947179 PMID:31283647 NCBI chr 4:180,188,792...180,199,847
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 9:92,503,467...92,750,164
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) RGD PMID:22233338 RGD:12743596 NCBI chr 3:59,570,647...59,573,963
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
ClinVar Annotator: match by OMIM:610713
OMIM
ClinVar
CTD
PMID:17236141 PMID:23995701 PMID:24239177 PMID:25741868 NCBI chr 3:59,570,647...59,573,963
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 OMIM
ClinVar
PMID:25741868 NCBI chr17:8,794,134...8,800,292
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: Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
ClinVar Annotator: match by OMIM:300863
OMIM
ClinVar
PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441
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 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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:4056805 PMID:8179305 PMID:11891693 PMID:20037586 PMID:20037587 More... NCBI chr12:41,938,533...41,977,517
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 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
RGD
PMID:12121354 PMID:16014698 PMID:16127465 PMID:16222676 PMID:17384641 More... RGD:12437084 NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
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 4:174,172,804...174,443,944
Ensembl chr 4:174,172,868...174,438,274
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 9:16,167,504...16,492,826
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 and brachydactyly ClinVar PMID:23290074 NCBI chr 9:15,878,296...16,206,768
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 NCBI chr15:32,208,993...32,254,952
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 3:144,454,306...144,458,757
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 Annotator: match by OMIM:186500
ClinVar
OMIM
RGD
PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... RGD:1600234, RGD:12801467 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
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 More... NCBI chr 1:119,689,626...119,750,711
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 chr15:38,259,595...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 17251
    Developmental Disease 10960
      bone development disease 1424
        dysostosis 394
          brachydactyly 31
            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
            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
            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 1
            hypertension and brachydactyly syndrome 1
            metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 2
            spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 0
            temtamy preaxial brachydactyly syndrome 1
Path 2
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  disease 17251
    disease of anatomical entity 16595
      Skin and Connective Tissue Diseases 5840
        connective tissue disease 4432
          bone disease 3115
            bone development disease 1424
              dysostosis 394
                brachydactyly 31
                  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
                  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
                  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 1
                  hypertension and brachydactyly syndrome 1
                  metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 2
                  spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 0
                  temtamy preaxial brachydactyly syndrome 1
paths to the root