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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
 narrow_synonym: DISTAL ARTHROGRYPOSIS AND CNS INVOLVEMENT
 xref: GARD:786;   OMIM:PS108120;   ORDO:1147;   ORDO:97120


show annotations for term's descendants           Sort by:
distal arthrogryposis term browser
Symbol Object Name Qualifiers 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 9:87,819,516...87,829,154
Ensembl chr 9:87,816,718...87,826,675 		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 chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976 		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 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541 		JBrowse link
G Mybpc1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr 7:22,930,350...23,015,981
Ensembl chr 7:22,930,350...23,015,957 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 PMID:28492532 NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
G Myl11 myosin light chain 11 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:32707087 NCBI chr 1:181,829,703...181,832,546
Ensembl chr 1:181,829,743...181,832,545 		JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Tnni2 troponin I2, fast skeletal type ISS
ISO		 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 Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis		 MouseDO
ClinVar		 PMID:12592607 PMID:17101001 PMID:17194691 PMID:25741868 NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
G Usp14 ubiquitin specific peptidase 14 ISO ClinVar Annotator: match by term: Distal arthrogryposis and CNS involvement ClinVar PMID:25741868 PMID:35066879 NCBI chr18:1,018,111...1,057,727
Ensembl chr18:1,019,400...1,057,519 		JBrowse link
congenital contractural arachnodactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:3495735 PMID:4750422 PMID:7493032 PMID:7633409 PMID:8653794 More... RGD:1300364 NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
distal arthrogryposis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:30777867 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:25741868 NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:11738357 PMID:17339586 PMID:17846275 PMID:18414213 PMID:18420702 More... NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
Distal Arthrogryposis Type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase susceptibility ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 11 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:30777867 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
Distal Arthrogryposis Type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif, 15 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 12 OMIM
ClinVar		 PMID:35962790 NCBI chr 8:29,307,864...29,331,249
Ensembl chr 8:29,307,865...29,331,249 		JBrowse link
distal arthrogryposis type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720 		JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642 		JBrowse link
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461 		JBrowse link
G Bag1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075 		JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725 		JBrowse link
G Chmp5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,081,385...56,098,529
Ensembl chr 5:56,081,343...56,098,529 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392 		JBrowse link
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227 NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390 		JBrowse link
G Dcaf12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,460,418...56,482,171
Ensembl chr 5:56,461,006...56,482,456 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925 		JBrowse link
G Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:55,842,414...55,853,326
Ensembl chr 5:55,842,426...55,853,967 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060 		JBrowse link
G Fam219a family with sequence similarity 219, member A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,679,272...56,729,959
Ensembl chr 5:56,680,613...56,729,924 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Fbxo10 F-box protein 10 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:59,297,016...59,343,429
Ensembl chr 5:59,297,045...59,343,348 		JBrowse link
G Frmpd1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:59,443,076...59,545,125
Ensembl chr 5:59,443,076...59,545,080 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025 		JBrowse link
G Melk maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,540,393...58,600,562
Ensembl chr 5:58,540,449...58,600,937 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:30777867 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232 		JBrowse link
G Myorg myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:55,400,543...55,410,110
Ensembl chr 5:55,400,543...55,410,181 		JBrowse link
G Nfx1 nuclear transcription factor, X-box binding 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,104,945...56,162,912
Ensembl chr 5:56,105,234...56,162,912 		JBrowse link
G Nol6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,259,919...56,270,540
Ensembl chr 5:56,260,830...56,270,336 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852 		JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853 		JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Polr1e RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:59,279,456...59,295,346
Ensembl chr 5:59,279,460...59,295,369 		JBrowse link
G Prss3 serine protease 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:70,203,088...70,206,562
Ensembl chr 4:70,203,088...70,206,562 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086 		JBrowse link
G Rig1 RNA sensor RIG-1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819 		JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,358,771...58,467,424
Ensembl chr 5:58,361,976...58,467,446 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838 		JBrowse link
G Smu1 SMU1, DNA replication regulator and spliceosomal factor ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:55,856,691...55,875,262
Ensembl chr 5:55,856,246...55,875,300 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070 		JBrowse link
G Spink4 serine peptidase inhibitor, Kazal type 4 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,043,936...56,064,841
Ensembl chr 5:55,981,624...56,064,795 		JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,666,160...56,678,865
Ensembl chr 5:56,666,058...56,678,923 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900 		JBrowse link
G Tmem215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:55,612,568...55,615,828
Ensembl chr 5:55,612,568...55,615,828 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772 		JBrowse link
G Tomm5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:59,362,360...59,365,191
Ensembl chr 5:59,362,240...59,365,269 		JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937 		JBrowse link
G Tpm2 tropomyosin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A		 OMIM
CTD
ClinVar		 PMID:7977374 PMID:9536098 PMID:11738357 PMID:12592607 PMID:16199547 More... NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:59,548,845...59,572,529
Ensembl chr 5:59,548,869...59,572,526 		JBrowse link
G Ubap1 ubiquitin-associated protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,520,722...56,561,153
Ensembl chr 5:56,520,743...56,561,152 		JBrowse link
G Ubap2 ubiquitin-associated protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,348,243...56,437,403
Ensembl chr 5:56,348,246...56,437,049 		JBrowse link
G Ube2r2 ubiquitin-conjugating enzyme E2R 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,286,604...56,345,160
Ensembl chr 5:56,286,725...56,345,513 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
G Zbtb5 zinc finger and BTB domain containing 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:59,244,132...59,265,461
Ensembl chr 5:59,243,307...59,265,426 		JBrowse link
G Zcchc7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,992,558...59,173,308
Ensembl chr 5:58,993,290...59,173,300 		JBrowse link
distal arthrogryposis type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mybpc1 myosin binding protein C1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B		 OMIM
CTD
ClinVar		 PMID:18414213 PMID:20045868 PMID:22415774 PMID:23657818 PMID:23873045 More... NCBI chr 7:22,930,350...23,015,981
Ensembl chr 7:22,930,350...23,015,957 		JBrowse link
distal arthrogryposis type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl11 myosin light chain 11 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C OMIM
ClinVar		 PMID:25741868 PMID:32707087 NCBI chr 1:181,829,703...181,832,546
Ensembl chr 1:181,829,743...181,832,545 		JBrowse link
distal arthrogryposis type 2A term browser
Symbol Object Name Qualifiers 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 2A (Freeman-Sheldon) OMIM
ClinVar		 PMID:16642020 PMID:18695058 PMID:19142688 PMID:25256237 PMID:25741868 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
distal arthrogryposis type 2B term browser
Symbol Object Name Qualifiers 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: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities		 ClinVar
RGD		 PMID:16642020 PMID:19142688 PMID:25741868 PMID:28492532 PMID:28779239 More... RGD:12792960 NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Arthyrgryposis, distal, type 2B ClinVar PMID:10525521 PMID:12865991 PMID:19142688 PMID:21402185 PMID:24319099 More... NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities ClinVar PMID:25741868 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
distal arthrogryposis type 2B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 ClinVar PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:19142688 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 OMIM
ClinVar		 PMID:12592607 PMID:17101001 PMID:17194691 PMID:23401156 PMID:23850728 More... NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 ClinVar PMID:25741868 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
distal arthrogryposis type 2B2 term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar		 PMID:10525521 PMID:12865991 PMID:19142688 PMID:21402185 PMID:24319099 More... NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
distal arthrogryposis type 2B3 term browser
Symbol Object Name Qualifiers 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 | ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 (Sheldon-Hall) OMIM
ClinVar		 PMID:16642020 PMID:18414213 PMID:18695058 PMID:25256237 PMID:25741868 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
Distal Arthrogryposis Type 2B4 term browser
Symbol Object Name Qualifiers 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:24692096 PMID:25741868 PMID:27726070 More... NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndrome		 OMIM
CTD
ClinVar		 PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 More... NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
distal arthrogryposis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis with oculomotor limitation and electroretinal abnormalities | ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome		 OMIM
CTD
ClinVar		 PMID:1941966 PMID:8423615 PMID:8533802 PMID:11152147 PMID:15103714 More... NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
distal arthrogryposis type 5D term browser
Symbol Object Name Qualifiers 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18414213 PMID:23236030 PMID:23261301 PMID:24782201 PMID:25099528 More... NCBI chr 9:87,819,516...87,829,154
Ensembl chr 9:87,816,718...87,826,675 		JBrowse link
distal arthrogryposis type 7 term browser
Symbol Object Name Qualifiers 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:9536098 PMID:11754102 More... NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Myh8 myosin heavy chain 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dutch-Kentucky syndrome | ClinVar Annotator: match by term: Hecht syndrome | ClinVar Annotator: match by term: MYH8-related condition
DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human)		 OMIM
CTD
ClinVar
RGD		 PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 More... RGD:12914760 NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232 		JBrowse link
Distal Arthrogryposis, with Impaired Proprioception and Touch term browser
Symbol Object Name Qualifiers 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8423615 PMID:9536098 PMID:11152147 PMID:17576681 PMID:24726473 More... NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
Freeman-Sheldon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniocarpotarsal dysplasia | ClinVar Annotator: match by term: Freeman-Sheldon syndrome		 CTD
ClinVar		 PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:18695058 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
Schaaf-Yang syndrome term browser
Symbol Object Name Qualifiers 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 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386 		JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: MAGEL2-related condition | ClinVar Annotator: match by term: Schaaf-Yang syndrome OMIM
ClinVar		 PMID:24076603 PMID:24088041 PMID:25326635 PMID:25473036 PMID:25590979 More... NCBI chr 1:115,880,142...115,884,684
Ensembl chr 1:115,880,474...115,884,250 		JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Schaaf-Yang syndrome ClinVar PMID:25741868 NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212 		JBrowse link
X-linked spinal muscular atrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: AMC, distal, X-linked | ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy | ClinVar Annotator: match by term: Spinal Muscular Atrophy, X-Linked Infantile | ClinVar Annotator: match by term: Spinal muscular atrophy, X-linked 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18179898 PMID:20301739 More... NCBI chr  X:1,508,700...1,530,677
Ensembl chr  X:1,508,666...1,530,636 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:23623388 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      arthrogryposis multiplex congenita 242
        distal arthrogryposis 108
          Distal Arthrogryposis Type 11 1
          Distal Arthrogryposis Type 12 1
          Distal Arthrogryposis Type 2 + 4
          Distal Arthrogryposis, Moore Weaver Type 0
          Distal Arthrogryposis, with Impaired Proprioception and Touch 2
          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 + 92
          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 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                arthrogryposis multiplex congenita 242
                  distal arthrogryposis 108
                    Distal Arthrogryposis Type 11 1
                    Distal Arthrogryposis Type 12 1
                    Distal Arthrogryposis Type 2 + 4
                    Distal Arthrogryposis, Moore Weaver Type 0
                    Distal Arthrogryposis, with Impaired Proprioception and Touch 2
                    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 + 92
                    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