ONTOLOGY REPORT - ANNOTATIONS


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       view all columns           Sort by:
 
brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:9586033
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:8554872
G Chst11 carbohydrate sulfotransferase 11 JBrowse link 7 26,641,856 26,890,503 RGD:8554872
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:8554872
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:11554173
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:11554173
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:12743593
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:8554872
G Mefv MEFV innate immuity regulator, pyrin JBrowse link 10 12,045,813 12,056,229 RGD:8554872
G Nipbl NIPBL, cohesin loading factor JBrowse link 2 57,508,830 57,676,197 RGD:8554872
G Ppp2r1a protein phosphatase 2 scaffold subunit A alpha JBrowse link 1 60,717,386 60,736,629 RGD:8554872
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:8554872
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:11072411
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:11554173
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 7 90,085,895 90,320,430 RGD:8554872
acrocapitofemoral dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:1600033
RGD:8554872
RGD:7240710
brachydactyly type A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:12437076
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:1600032
RGD:12910974
RGD:11535949
RGD:12910970
RGD:12910965
RGD:12910964
RGD:12910945
RGD:12910944
RGD:8554872
RGD:7240710
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12798572
RGD:13592920
brachydactyly type A1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:8554872
brachydactyly type A1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:8554872
RGD:7240710
brachydactyly type A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp2 bone morphogenetic protein 2 JBrowse link 3 126,335,963 126,346,771 RGD:7240710
RGD:8554872
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:7240710
RGD:8554872
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:8554872
brachydactyly type A4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:12738470
brachydactyly type B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:7240710
RGD:8554872
RGD:11537345
RGD:11535953
RGD:11535952
RGD:11535951
RGD:11535949
brachydactyly type B2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:7240710
RGD:12801483
RGD:12801481
RGD:8554872
brachydactyly type C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:12738202
RGD:12738200
RGD:12437083
RGD:8554872
brachydactyly type D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:7240710
RGD:11554173
RGD:8554872
brachydactyly type E1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:7240710
RGD:8554872
RGD:11554173
brachydactyly type E2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:7240710
RGD:8554872
Brachydactyly with Hypertension term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde3a phosphodiesterase 3A JBrowse link 4 175,431,904 175,703,844 RGD:7240710
RGD:11554173
RGD:8554872
Brachydactyly, Type E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:11554173
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:12743596
brachydactyly-syndactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:7240710
RGD:8554872
RGD:11554173
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hdac6 histone deacetylase 6 JBrowse link X 15,295,372 15,316,673 RGD:7240710
RGD:8554872
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Runx2 runt-related transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:8554872
Digital Arthropathy-Brachydactyly, Familial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:7240710
RGD:8554872
fibular hypoplasia and complex brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:12437084
RGD:8554872
Fitzsimmons-Guilbert Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbl1xr1 transducin (beta)-like 1 X-linked receptor 1 JBrowse link 2 107,221,913 107,359,229 RGD:8554872
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Runx2 runt-related transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:8554872
RGD:11554173
G Supt3h SPT3 homolog, SAGA and STAGA complex component JBrowse link 9 18,249,565 18,604,814 RGD:8554872
Multiple Synostoses Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf9 fibroblast growth factor 9 JBrowse link 15 38,341,657 38,386,945 RGD:8554872
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:8554872
RGD:12738199
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:1600234
RGD:8554872
RGD:12801467
RGD:7240710
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:8554872
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx1 paired-like homeodomain 1 JBrowse link 17 8,873,184 8,884,428 RGD:7240710
temtamy preaxial brachydactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chsy1 chondroitin sulfate synthase 1 JBrowse link 1 127,010,587 127,071,570 RGD:7240710
RGD:8554872
Ulnar/Fibular Ray Defect and Brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rp1l1 RP1 like 1 JBrowse link 15 47,344,380 47,384,461 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      bone development disease 891
        dysostosis 233
          brachydactyly 29
            Ballard syndrome 0
            Berk-Tabatznik Syndrome 0
            Bork Stender Schmidt Syndrome 0
            Brachydactyly Type A5 Nail Dysplasia 0
            Brachydactyly with Hypertension 1
            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
            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 1
            GOMBO Syndrome 0
            Grange Syndrome 0
            Heart-Hand Syndrome, Spanish Type 0
            Hirschsprung Disease Type d Brachydactyly 0
            Kumar Levick Syndrome 0
            Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly 2
            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
            Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 1
            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
            temtamy preaxial brachydactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Skin and Connective Tissue Diseases 3903
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              dysostosis 233
                brachydactyly 29
                  Ballard syndrome 0
                  Berk-Tabatznik Syndrome 0
                  Bork Stender Schmidt Syndrome 0
                  Brachydactyly Type A5 Nail Dysplasia 0
                  Brachydactyly with Hypertension 1
                  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
                  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 1
                  GOMBO Syndrome 0
                  Grange Syndrome 0
                  Heart-Hand Syndrome, Spanish Type 0
                  Hirschsprung Disease Type d Brachydactyly 0
                  Kumar Levick Syndrome 0
                  Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly 2
                  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
                  Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 1
                  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
                  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.