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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:distal arthrogryposis
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Accession:DOID:0050646 term browser browse the term
Definition:A muscle tissue disease characterized by congenital joint contractures of hand and feet. (DO)
Synonyms:exact_synonym: distal arthrogryposis multiplex congenita
 xref: GARD:786;   OMIM:PS108120;   ORDO:1147;   ORDO:97120
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
distal arthrogryposis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ecel1 endothelin converting enzyme-like 1 ISS OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 MouseDO NCBI chr 9:94,238,568...94,252,484
Ensembl chr 9:94,239,006...94,250,809
JBrowse link
G Fbn2 fibrillin 2 ISS OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 MouseDO NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:18414213, PMID:25741868, PMID:29074562 NCBI chr 4:7,532,881...7,582,032
Ensembl chr 4:7,532,889...7,582,207
JBrowse link
G Mybpc1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr 7:29,086,159...29,171,909
Ensembl chr 7:29,086,156...29,171,783
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
G Mylpf myosin light chain, phosphorylatable, fast skeletal muscle ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar NCBI chr 1:198,655,835...198,658,590
Ensembl chr 1:198,655,742...198,658,583
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO
ISS
ClinVar Annotator: match by term: Distal arthrogryposis
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal
OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065
ClinVar
MouseDO
PMID:12592607, PMID:17101001, PMID:25741868 NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal ClinVar PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:9624053, PMID:10090909, PMID:10729113, PMID:10775529, PMID:10909849, PMID:11311042, PMID:11402400, PMID:12112664, PMID:12525556, PMID:14970843, PMID:15025721, PMID:15325563, PMID:15326663, PMID:17296898, PMID:17405132, PMID:18641288, PMID:18665195, PMID:19881469, PMID:20145675, PMID:20301515, PMID:21174530, PMID:21234346, PMID:22495311, PMID:22581970, PMID:23352160, PMID:24033266, PMID:24088041, PMID:24160897, PMID:24607488, PMID:24944099, PMID:25097241, PMID:25404053, PMID:25649381, PMID:25741868, PMID:26633545, PMID:26872967, PMID:28041643, PMID:28492532, PMID:29953849, PMID:30718709 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
congenital contractural arachnodactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Beals-Hecht syndrome
ClinVar Annotator: match by term: Congenital contractural arachnodactyly
ClinVar Annotator: match by OMIM:121050
ClinVar Annotator: match by null
ClinVar
OMIM
PMID:3495735, PMID:4750422, PMID:7493032, PMID:7633409, PMID:8653794, PMID:8900230, PMID:9106527, PMID:9199560, PMID:9737771, PMID:10612827, PMID:10797416, PMID:11285249, PMID:11470817, PMID:11754102, PMID:15121784, PMID:16531736, PMID:16677079, PMID:16835936, PMID:17345643, PMID:17935258, PMID:18414213, PMID:18767143, PMID:19006240, PMID:20301560, PMID:20799338, PMID:22325249, PMID:23148498, PMID:24033266, PMID:24833718, PMID:24899048, PMID:25326635, PMID:25525159, PMID:25741868, PMID:25944730, PMID:26038974, PMID:26133393, PMID:27196565, PMID:28383543, PMID:28492532, PMID:29907982, PMID:29926239, PMID:30311386, PMID:30675029, PMID:31316167, PMID:11754102 RGD:1300364 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
distal arthrogryposis type 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:25326635, PMID:25741868, PMID:28374019, PMID:32214227 NCBI chr10:89,087,904...89,103,615
Ensembl chr10:89,089,646...89,103,614
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:25741868 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:25741868 NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A OMIM
ClinVar
PMID:7977374, PMID:11738357, PMID:12592607, PMID:17194691, PMID:17846275, PMID:18414213, PMID:18420702, PMID:18422639, PMID:19047562, PMID:22084935, PMID:22832343, PMID:22980765, PMID:23689010, PMID:23757202, PMID:23886664, PMID:24033266, PMID:24039757, PMID:24657080, PMID:24692096, PMID:25741868, PMID:25978979, PMID:26467025, PMID:26752647, PMID:28492532 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
JBrowse link
distal arthrogryposis type 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mybpc1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1B
ClinVar Annotator: match by OMIM:614335
OMIM
ClinVar
PMID:18414213, PMID:20045868, PMID:22415774, PMID:23657818, PMID:23873045, PMID:25741868, PMID:26287277, PMID:28492532 NCBI chr 7:29,086,159...29,171,909
Ensembl chr 7:29,086,156...29,171,783
JBrowse link
distal arthrogryposis type 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO OMIM NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
distal arthrogryposis type 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO DNA:missense mutation:exon:p.A234T (769C>T) (human)
ClinVar Annotator: match by term: Distal arthrogryposis type 2B
ClinVar PMID:16642020, PMID:18414213, PMID:19142688, PMID:25741868, PMID:28492532, PMID:28779239, PMID:29805041, PMID:30311386, PMID:18695058 RGD:12792960 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Distal arthrogryposis type 2B
CTD
ClinVar
PMID:12592607, PMID:17101001, PMID:23850728, PMID:25741868, PMID:28492532 NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B
ClinVar Annotator: match by term: Arthyrgryposis, distal, type 2B
ClinVar PMID:10525521, PMID:12865991, PMID:18414213, PMID:19142688, PMID:21402185, PMID:25337069, PMID:25741868, PMID:28492532 NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B ClinVar PMID:25741868 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
JBrowse link
distal arthrogryposis type 2B1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 ClinVar PMID:25741868 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO OMIM NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
JBrowse link
distal arthrogryposis type 2B2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 ClinVar
OMIM
PMID:10525521, PMID:12865991, PMID:19142688, PMID:21402185, PMID:25337069, PMID:25741868 NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
JBrowse link
distal arthrogryposis type 2B3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B3 OMIM
ClinVar
PMID:16642020, PMID:18695058, PMID:25741868, PMID:29625835, PMID:30826400 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
Distal Arthrogryposis Type 2B4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B4 ClinVar PMID:17339586, PMID:23678273, PMID:27726070, PMID:30285720 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ClinVar Annotator: match by OMIM:114300
OMIM
ClinVar
PMID:8423615, PMID:11152147, PMID:17345626, PMID:19571066, PMID:23487782, PMID:24649842, PMID:24726473, PMID:25712306, PMID:25741868, PMID:27607563, PMID:27653382, PMID:27714920, PMID:27912047, PMID:30285720, PMID:31680123 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
distal arthrogryposis type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
ClinVar Annotator: match by term: Oculomelic amyoplasia
ClinVar Annotator: match by OMIM:108145
OMIM
ClinVar
PMID:1941966, PMID:8423615, PMID:8533802, PMID:11152147, PMID:15103714, PMID:17345626, PMID:19571066, PMID:23487782, PMID:24649842, PMID:24726473, PMID:25712306, PMID:25741868, PMID:27607563, PMID:27653382, PMID:27714920, PMID:27912047, PMID:31680123, PMID:32860008 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
distal arthrogryposis type 5D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ecel1 endothelin converting enzyme-like 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 5D
ClinVar Annotator: match by term: Arthrogryposis, distal, type 5d
ClinVar Annotator: match by OMIM:615065
OMIM
ClinVar
PMID:23236030, PMID:23261301, PMID:24782201, PMID:25099528, PMID:25708584, PMID:25741868, PMID:26752647 NCBI chr 9:94,238,568...94,252,484
Ensembl chr 9:94,239,006...94,250,809
JBrowse link
distal arthrogryposis type 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Beals-Hecht syndrome
ClinVar Annotator: match by term: Hecht syndrome
ClinVar PMID:3495735, PMID:4750422, PMID:8653794, PMID:11754102, PMID:16677079, PMID:16835936, PMID:17345643, PMID:17935258, PMID:18414213, PMID:18767143, PMID:19006240, PMID:22325249, PMID:23148498, PMID:24033266, PMID:24833718, PMID:24899048, PMID:25525159, PMID:25741868, PMID:25944730, PMID:26038974, PMID:26133393, PMID:28492532, PMID:29926239, PMID:30311386 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Hecht syndrome
DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human)
ClinVar Annotator: match by OMIM:158300
OMIM
ClinVar
PMID:1600999, PMID:4443857, PMID:4837286, PMID:12800911, PMID:15282353, PMID:15590965, PMID:17041932, PMID:18049072, PMID:18414213, PMID:20949528, PMID:25305228, PMID:25741868, PMID:28492532, PMID:30311386, PMID:17041932 RGD:12914760 NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
JBrowse link
Distal Arthrogryposis, with Impaired Proprioception and Touch term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch ClinVar
OMIM
PMID:25741868, PMID:27607563, PMID:27653382, PMID:27843126, PMID:27974811, PMID:28492532, PMID:31680123 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
Freeman-Sheldon syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by OMIM:193700
ClinVar Annotator: match by term: Freeman-Sheldon syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16642020, PMID:18414213, PMID:18695058, PMID:19142688, PMID:25741868, PMID:28492532, PMID:29805041, PMID:30311386, PMID:30379605, PMID:30826400 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
Schaaf-Yang syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO associated with Fragile X Syndrome;mRNA:decreased expression:leukocyte (human) RGD PMID:17435464 RGD:11558012 NCBI chr 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137
JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: Schaaf-Yang syndrome
ClinVar Annotator: match by term: Schaaf-yang syndrome
ClinVar Annotator: match by OMIM:615547
OMIM
ClinVar
PMID:8424017, PMID:11891783, PMID:17728320, PMID:19066619, PMID:19172181, PMID:21248145, PMID:24076603, PMID:24088041, PMID:24661356, PMID:25326635, PMID:25473036, PMID:25741868, PMID:26365340, PMID:26633545, PMID:27195816, PMID:28281571, PMID:29599419, PMID:31397880, PMID:32860008 NCBI chr 1:123,015,404...123,019,945
Ensembl chr 1:123,015,746...123,019,522
JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Schaaf-yang syndrome ClinVar NCBI chr20:55,590,810...55,674,002
Ensembl chr20:55,594,676...55,673,995
JBrowse link
X-linked spinal muscular atrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, X-linked 2
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita, distal, X-linked
ClinVar Annotator: match by OMIM:301830
OMIM
ClinVar
PMID:18179898, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:1,723,135...1,745,147
Ensembl chr  X:1,723,174...1,741,701
JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:23623388 NCBI chr  X:64,887,978...64,908,682
Ensembl chr  X:64,887,978...64,908,682
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        Joint Diseases 1163
          Arthrogryposis 96
            distal arthrogryposis 20
              Distal Arthrogryposis Type 2 + 4
              Distal Arthrogryposis, Moore Weaver Type 0
              Distal Arthrogryposis, with Impaired Proprioception and Touch 1
              Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 0
              Freeman-Sheldon syndrome + 1
              Schaaf-Yang syndrome 3
              X-linked spinal muscular atrophy 2 2
              congenital contractural arachnodactyly 1
              distal arthrogryposis type 1 + 6
              distal arthrogryposis type 10 0
              distal arthrogryposis type 3 1
              distal arthrogryposis type 4 0
              distal arthrogryposis type 5 1
              distal arthrogryposis type 5D 1
              distal arthrogryposis type 6 0
              distal arthrogryposis type 7 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        peripheral nervous system disease 2476
          neuropathy 2297
            neuromuscular disease 1778
              muscular disease 1201
                muscle tissue disease 813
                  distal arthrogryposis 20
                    Distal Arthrogryposis Type 2 + 4
                    Distal Arthrogryposis, Moore Weaver Type 0
                    Distal Arthrogryposis, with Impaired Proprioception and Touch 1
                    Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 0
                    Freeman-Sheldon syndrome + 1
                    Schaaf-Yang syndrome 3
                    X-linked spinal muscular atrophy 2 2
                    congenital contractural arachnodactyly 1
                    distal arthrogryposis type 1 + 6
                    distal arthrogryposis type 10 0
                    distal arthrogryposis type 3 1
                    distal arthrogryposis type 4 0
                    distal arthrogryposis type 5 1
                    distal arthrogryposis type 5D 1
                    distal arthrogryposis type 6 0
                    distal arthrogryposis type 7 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.