ONTOLOGY REPORT - ANNOTATIONS


Term:Arthrogryposis
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Accession:DOID:9000338 term browser browse the term
Definition:Persistent flexure or contracture of a joint. 
Synonyms:exact_synonym: Arthrogryposes;   Arthrogryposis Multiplex Congenita;   Arthrogryposis Multiplex Congenita (AMC);   Congenital Arthromyodysplasia;   Congenital Arthromyodysplasias;   Congenital Multiple Arthrogryposes;   Congenital Multiple Arthrogryposis;   Fibrous Ankylosis of Multiple Joints;   Guerin Stern Syndrome;   Guérin Stern Syndrome;   Myodystrophia Fetalis Deformans;   Otto Syndrome;   Rocher Sheldon Syndrome;   Rossi syndrome;   amyoplasia congenita
 primary_id: MESH:D001176
 alt_id: RDO:0000318
For additional species annotation, visit the Alliance of Genome Resources.


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Arthrogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrg6 adhesion G protein-coupled receptor G6 JBrowse link 1 8,593,342 8,751,540 RGD:8554872
G Chrng cholinergic receptor nicotinic gamma subunit JBrowse link 9 94,302,218 94,308,591 RGD:11554173
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:11554173
G Kif1b kinesin family member 1B JBrowse link 5 165,994,803 166,133,497 RGD:8554872
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:1600548
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 18 57,286,266 57,403,926 RGD:8554872
G Syne1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1
1
41,608,287
41,844,840
41,763,591
42,086,662
RGD:13209012
G Tnni2 troponin I2, fast skeletal type JBrowse link 1 215,609,110 215,611,652 RGD:1599481
RGD:8554872
G Tnnt3 troponin T3, fast skeletal type JBrowse link 1 215,666,628 215,683,628 RGD:1599490
RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
G Vps33b VPS33B, late endosome and lysosome associated JBrowse link 1 142,060,955 142,083,955 RGD:1599749
ARC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 JBrowse link 1 83,163,103 83,236,615 RGD:8554872
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:8554872
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog JBrowse link 6 111,271,283 111,296,013 RGD:7240710
RGD:8554872
RGD:11554173
G Vps33b VPS33B, late endosome and lysosome associated JBrowse link 1 142,060,955 142,083,955 RGD:7240710
RGD:8554872
arthrogryposis due to muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lgi4 leucine-rich repeat LGI family, member 4 JBrowse link 1 89,491,588 89,502,939 RGD:8554872
RGD:7240710
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp3ca protein phosphatase 3 catalytic subunit alpha JBrowse link 2 241,909,332 242,186,861 RGD:8554872
RGD:7240710
Arthrogryposis, Mental Retardation, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc35a3 solute carrier family 35 member A3 JBrowse link 2 219,705,618 219,741,886 RGD:7240710
RGD:8554872
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nek9 NIMA-related kinase 9 JBrowse link 6 109,121,524 109,162,433 RGD:8554872
RGD:7240710
Bruck syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:13592920
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:8554872
RGD:13592920
Bruck Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:8554872
RGD:7240710
Bruck Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:7240710
RGD:8554872
CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
Cerebrooculofacioskeletal Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:1601070
RGD:8554872
RGD:7240710
Cerebrooculofacioskeletal Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:7240710
RGD:8554872
Congenital Arthrogryposis with Anterior Horn Cell Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gle1 GLE1 RNA export mediator JBrowse link 3 8,498,098 8,530,218 RGD:7240710
RGD:8554872
Congenital Contractural Arachnodactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:1300364
RGD:8554872
RGD:7240710
distal arthrogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ecel1 endothelin converting enzyme-like 1 JBrowse link 9 94,238,568 94,252,484 RGD:13592920
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:13592920
G Mybpc1 myosin binding protein C, slow type JBrowse link 7 29,086,159 29,171,909 RGD:8554872
RGD:13592920
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
RGD:13592920
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:13592920
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:13592920
RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Tnni2 troponin I2, fast skeletal type JBrowse link 1 215,609,110 215,611,652 RGD:8554872
RGD:13592920
G Tnnt3 troponin T3, fast skeletal type JBrowse link 1 215,666,628 215,683,628 RGD:13592920
RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:13592920
Distal Arthrogryposis Multiplex Congenita, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
Distal Arthrogryposis Multiplex Congenita, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Uba1 ubiquitin-like modifier activating enzyme 1 JBrowse link X 1,723,135 1,745,147 RGD:7240710
RGD:8554872
G Zc4h2 zinc finger C4H2-type containing JBrowse link X 64,887,978 64,908,682 RGD:11554173
Distal Arthrogryposis Type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:7240710
RGD:8554872
RGD:12792960
G Tnni2 troponin I2, fast skeletal type JBrowse link 1 215,609,110 215,611,652 RGD:7240710
RGD:8554872
G Tnnt3 troponin T3, fast skeletal type JBrowse link 1 215,666,628 215,683,628 RGD:7240710
RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:7240710
RGD:8554872
Distal Arthrogryposis, Type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntnap1 contactin associated protein 1 JBrowse link 10 89,087,904 89,103,615 RGD:8554872
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:8554872
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:7240710
RGD:8554872
Distal Arthrogryposis, Type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mybpc1 myosin binding protein C, slow type JBrowse link 7 29,086,159 29,171,909 RGD:7240710
RGD:8554872
Distal Arthrogryposis, Type 5D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ecel1 endothelin converting enzyme-like 1 JBrowse link 9 94,238,568 94,252,484 RGD:7240710
RGD:8554872
Distal Arthrogryposis, with Impaired Proprioception and Touch term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:8554872
RGD:7240710
Ehlers-Danlos Syndrome, Musculocontractural Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dse dermatan sulfate epimerase JBrowse link 20 27,703,738 27,784,982 RGD:7240710
RGD:8554872
Fetal Akinesia Deformation Sequence 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dok7 docking protein 7 JBrowse link 14 80,925,409 80,963,454 RGD:8554872
RGD:11554173
G Musk muscle associated receptor tyrosine kinase JBrowse link 5 75,392,790 75,498,694 RGD:8554872
RGD:7240710
G Ntrk1 neurotrophic receptor tyrosine kinase 1 JBrowse link 2 187,143,568 187,160,373 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
G Rapsn receptor-associated protein of the synapse JBrowse link 3 79,859,815 79,869,486 RGD:8554872
RGD:11554173
Fetal Akinesia Deformation Sequence 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rapsn receptor-associated protein of the synapse JBrowse link 3 79,859,815 79,869,486 RGD:7240710
RGD:8554872
Fetal Akinesia Deformation Sequence 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dok7 docking protein 7 JBrowse link 14 80,925,409 80,963,454 RGD:7240710
RGD:8554872
Fetal Akinesia Deformation Sequence 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup88 nucleoporin 88 JBrowse link 10 57,581,828 57,606,171 RGD:7240710
Freeman-Sheldon Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:7240710
RGD:8554872
Gordon Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:7240710
RGD:8554872
Hecht Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:7240710
RGD:12914760
RGD:8554872
hereditary neuropathy with liability to pressure palsies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:7240710
RGD:8554872
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nalcn sodium leak channel, non-selective JBrowse link 15 109,734,092 110,046,729 RGD:8554872
lethal congenital contracture syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gle1 GLE1 RNA export mediator JBrowse link 3 8,498,098 8,530,218 RGD:8554872
lethal congenital contracture syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erbb3 erb-b2 receptor tyrosine kinase 3 JBrowse link 7 2,989,202 3,010,610 RGD:8554872
G Gle1 GLE1 RNA export mediator JBrowse link 3 8,498,098 8,530,218 RGD:7240710
RGD:8554872
RGD:11554173
Lethal Congenital Contracture Syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nek9 NIMA-related kinase 9 JBrowse link 6 109,121,524 109,162,433 RGD:8554872
RGD:7240710
Lethal Congenital Contracture Syndrome 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gldn gliomedin JBrowse link 8 58,870,516 58,914,605 RGD:8554872
RGD:7240710
lethal congenital contracture syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erbb3 erb-b2 receptor tyrosine kinase 3 JBrowse link 7 2,989,202 3,010,610 RGD:7240710
RGD:8554872
lethal congenital contracture syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pip5k1c phosphatidylinositol-4-phosphate 5-kinase type 1 gamma JBrowse link 7 11,267,207 11,294,291 RGD:7240710
RGD:8554872
lethal congenital contracture syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mybpc1 myosin binding protein C, slow type JBrowse link 7 29,086,159 29,171,909 RGD:7240710
RGD:8554872
Lethal Congenital Contracture Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:7240710
RGD:8554872
Lethal Congenital Contracture Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zbtb42 zinc finger and BTB domain containing 42 JBrowse link 6 137,238,899 137,247,115 RGD:7240710
RGD:8554872
Lethal Congenital Contracture Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ceacam16 carcinoembryonic antigen-related cell adhesion molecule 16 JBrowse link 1 80,773,819 80,783,898 RGD:8554872
G Cntnap1 contactin associated protein 1 JBrowse link 10 89,087,904 89,103,615 RGD:8554872
RGD:7240710
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 JBrowse link 8 6,811,543 6,917,534 RGD:8554872
Lethal Congenital Contracture Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adcy6 adenylate cyclase 6 JBrowse link 7 140,270,678 140,291,722 RGD:8554872
RGD:7240710
G Tex49 testis expressed 49 JBrowse link 7 140,248,852 140,270,340 RGD:8554872
Lethal Congenital Contracture Syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrg6 adhesion G protein-coupled receptor G6 JBrowse link 1 8,593,342 8,751,540 RGD:8554872
RGD:7240710
Multiple Pterygium Syndrome, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
RGD:7240710
Multiple Pterygium Syndrome, Lethal Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:7240710
RGD:8554872
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:7240710
RGD:8554872
G Chrng cholinergic receptor nicotinic gamma subunit JBrowse link 9 94,302,218 94,308,591 RGD:7240710
RGD:8554872
neurogenic arthrogryposis multiplex congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 JBrowse link 10 16,821,393 16,912,050 RGD:8554872
RGD:7240710
G Lgi4 leucine-rich repeat LGI family, member 4 JBrowse link 1 89,491,588 89,502,939 RGD:8554872
Oculomelic Amyoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:7240710
RGD:8554872
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pi4ka phosphatidylinositol 4-kinase alpha JBrowse link 11 87,858,323 87,975,549 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      musculoskeletal system disease 3997
        muscular disease 908
          Arthrogryposis 57
            ARC syndrome 5
            ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
            Arthrogryposis Epileptic Seizures Migrational Brain Disorder 0
            Arthrogryposis Multiplex Congenita Whistling Face 0
            Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 0
            Arthrogryposis and Ectodermal Dysplasia 0
            Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 1
            Arthrogryposis, Mental Retardation, and Seizures 1
            Arthrogryposis, X-Linked, Type V 0
            Boylan Dew Greco Syndrome 0
            Bruck syndrome + 2
            CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement 1
            Camptodactyly-Ichthyosis Syndrome 0
            Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 0
            Cerebrooculofacioskeletal Syndrome 2 1
            Cerebrooculofacioskeletal Syndrome 4 1
            Congenital Arthrogryposis with Anterior Horn Cell Disease 1
            Congenital Neuropathy with Arthrogryposis Multiplex 0
            Cyprus Facial Neuromusculoskeletal Syndrome 0
            Ehlers-Danlos Syndrome, Musculocontractural Type 2 1
            Fetal Akinesia Deformation Sequence + 6
            German Syndrome 0
            Gordon Syndrome 1
            Hecht Syndrome 1
            Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence 0
            Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis 1
            Jequier Kozlowski Skeletal Dysplasia 0
            Johnston Aarons Schelley Syndrome 0
            Ladda Zonana Ramer syndrome 0
            Massa Casaer Ceulemans Syndrome 0
            Minicore Myopathy, Antenatal Onset, with Arthrogryposis 0
            Multiple Pterygium Syndrome, Autosomal Dominant 1
            Multiple Pterygium Syndrome, Lethal Type 3
            Oculomelic Amyoplasia 1
            POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 1
            Pelvic Dysplasia Arthrogryposis of Lower Limbs 0
            Podder-Tolmie Syndrome 0
            Ray Peterson Scott Syndrome 0
            Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 0
            Spranger Schinzel Myers Syndrome 0
            arthrogryposis due to muscular dystrophy 1
            distal arthrogryposis + 14
            hereditary neuropathy with liability to pressure palsies 1
            lethal congenital contracture syndrome + 14
            neurogenic arthrogryposis multiplex congenita + 2
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        peripheral nervous system disease 2017
          neuropathy 1838
            neuromuscular disease 1413
              muscular disease 908
                Arthrogryposis 57
                  ARC syndrome 5
                  ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
                  Arthrogryposis Epileptic Seizures Migrational Brain Disorder 0
                  Arthrogryposis Multiplex Congenita Whistling Face 0
                  Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 0
                  Arthrogryposis and Ectodermal Dysplasia 0
                  Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 1
                  Arthrogryposis, Mental Retardation, and Seizures 1
                  Arthrogryposis, X-Linked, Type V 0
                  Boylan Dew Greco Syndrome 0
                  Bruck syndrome + 2
                  CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement 1
                  Camptodactyly-Ichthyosis Syndrome 0
                  Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 0
                  Cerebrooculofacioskeletal Syndrome 2 1
                  Cerebrooculofacioskeletal Syndrome 4 1
                  Congenital Arthrogryposis with Anterior Horn Cell Disease 1
                  Congenital Neuropathy with Arthrogryposis Multiplex 0
                  Cyprus Facial Neuromusculoskeletal Syndrome 0
                  Ehlers-Danlos Syndrome, Musculocontractural Type 2 1
                  Fetal Akinesia Deformation Sequence + 6
                  German Syndrome 0
                  Gordon Syndrome 1
                  Hecht Syndrome 1
                  Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence 0
                  Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis 1
                  Jequier Kozlowski Skeletal Dysplasia 0
                  Johnston Aarons Schelley Syndrome 0
                  Ladda Zonana Ramer syndrome 0
                  Massa Casaer Ceulemans Syndrome 0
                  Minicore Myopathy, Antenatal Onset, with Arthrogryposis 0
                  Multiple Pterygium Syndrome, Autosomal Dominant 1
                  Multiple Pterygium Syndrome, Lethal Type 3
                  Oculomelic Amyoplasia 1
                  POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 1
                  Pelvic Dysplasia Arthrogryposis of Lower Limbs 0
                  Podder-Tolmie Syndrome 0
                  Ray Peterson Scott Syndrome 0
                  Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 0
                  Spranger Schinzel Myers Syndrome 0
                  arthrogryposis due to muscular dystrophy 1
                  distal arthrogryposis + 14
                  hereditary neuropathy with liability to pressure palsies 1
                  lethal congenital contracture syndrome + 14
                  neurogenic arthrogryposis multiplex congenita + 2
paths to the root

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