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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:acromesomelic dysplasia, Maroteaux type
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Accession:DOID:0080050 term browser browse the term
Definition:An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments. (DO)
Synonyms:exact_synonym: AMD1;   AMDM;   St. Helena dysplasia;   acromesomelic dwarfism Maroteux type;   acromesomelic dysplasia 1;   acromesomelic dysplasia 1, Maroteaux type
 primary_id: MESH:C535661
 alt_id: OMIM:602875
 xref: GARD:507;   ORDO:40

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
acromesomelic dysplasia, Maroteaux type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:1,569,610...1,582,103
Ensembl chrNW_004936524:1,570,627...1,576,329 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:1,963,427...1,969,977
Ensembl chrNW_004936524:1,963,247...1,969,998 		JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:1,898,635...1,915,078 JBrowse link
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,660,364...3,663,664
Ensembl chrNW_004936524:3,660,454...3,663,696 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:2,705,112...2,711,557
Ensembl chrNW_004936524:2,705,121...2,711,557 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,133,288...3,144,726
Ensembl chrNW_004936524:3,133,288...3,140,193 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:1,659,791...1,713,971
Ensembl chrNW_004936524:1,659,608...1,714,102 		JBrowse link
G Bag1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:1,793,001...1,804,145
Ensembl chrNW_004936524:1,791,119...1,804,151 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,672,393...3,678,630
Ensembl chrNW_004936524:3,672,541...3,678,433 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,657,094...3,659,851
Ensembl chrNW_004936524:3,657,170...3,659,821 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:4,143,238...4,145,183
Ensembl chrNW_004936524:4,143,347...4,145,113 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:2,765,271...2,767,259
Ensembl chrNW_004936524:2,765,267...2,767,385 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:2,787,963...2,789,116
Ensembl chrNW_004936524:2,788,341...2,789,016 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:2,743,106...2,743,759
Ensembl chrNW_004936524:2,743,068...2,743,746 		JBrowse link
G Cd72 CD72 molecule ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,620,464...3,629,065
Ensembl chrNW_004936524:3,620,912...3,629,065 		JBrowse link
G Chmp5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:1,804,643...1,820,491 JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,594,530...3,597,055
Ensembl chrNW_004936524:3,594,552...3,596,371 		JBrowse link
G Clta clathrin light chain A ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:4,170,425...4,191,951
Ensembl chrNW_004936524:4,169,732...4,191,951 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:2,636,166...2,674,488
Ensembl chrNW_004936524:2,636,166...2,674,192 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,727,104...3,730,962
Ensembl chrNW_004936524:3,727,098...3,730,975 		JBrowse link
G Dcaf12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:2,239,972...2,272,885
Ensembl chrNW_004936524:2,238,602...2,273,349 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:2,696,096...2,704,162
Ensembl chrNW_004936524:2,696,053...2,704,213 		JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:2,551,431...2,614,245
Ensembl chrNW_004936524:2,572,956...2,614,026 		JBrowse link
G Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:1,599,883...1,611,302
Ensembl chrNW_004936524:1,599,913...1,610,682 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,038,489...3,047,546
Ensembl chrNW_004936524:3,039,183...3,048,803 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:2,614,299...2,616,073
Ensembl chrNW_004936524:2,614,299...2,616,073 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:5,580,855...5,586,170
Ensembl chrNW_004936524:5,581,090...5,586,128 		JBrowse link
G Fam219a family with sequence similarity 219 member A ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:2,494,954...2,550,992
Ensembl chrNW_004936524:2,492,634...2,551,147 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,103,912...3,110,246
Ensembl chrNW_004936524:3,104,176...3,109,779 		JBrowse link
G Fbxo10 F-box protein 10 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:5,285,844...5,355,212
Ensembl chrNW_004936524:5,283,828...5,355,392 		JBrowse link
G Frmpd1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:5,469,495...5,557,109
Ensembl chrNW_004936524:5,469,422...5,557,117 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:2,726,795...2,730,049
Ensembl chrNW_004936524:2,726,749...2,730,564 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,730,833...3,742,526
Ensembl chrNW_004936524:3,730,833...3,742,531 		JBrowse link
G Glipr2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:4,118,964...4,139,901
Ensembl chrNW_004936524:4,118,697...4,139,942 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:4,184,831...4,234,257
Ensembl chrNW_004936524:4,196,830...4,252,163 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:5,208,793...5,219,555
Ensembl chrNW_004936524:5,208,492...5,219,970 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,912,344...3,913,231
Ensembl chrNW_004936524:3,912,416...3,912,796 		JBrowse link
G Il11ra interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:2,732,477...2,743,044
Ensembl chrNW_004936524:2,735,507...2,742,660 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:2,375,133...2,417,096
Ensembl chrNW_004936524:2,375,981...2,417,096 		JBrowse link
G LOC101958294 histidine triad nucleotide-binding protein 2, mitochondrial ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,807,426...3,816,391
Ensembl chrNW_004936524:3,807,494...3,813,535
Ensembl chrNW_004936524:3,807,494...3,813,535 		JBrowse link
G Melk maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:4,479,639...4,544,561
Ensembl chrNW_004936524:4,469,256...4,544,290 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,746,426...3,751,124
Ensembl chrNW_004936524:3,746,502...3,747,525 		JBrowse link
G Myorg myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:2,472,611...2,494,478
Ensembl chrNW_004936524:2,472,624...2,492,768
Ensembl chrNW_004936524:2,472,624...2,492,768 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:1,231,744...1,243,783
Ensembl chrNW_004936524:1,231,852...1,243,659 		JBrowse link
G Nfx1 nuclear transcription factor, X-box binding 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:1,824,629...1,886,726
Ensembl chrNW_004936524:1,823,813...1,886,721 		JBrowse link
G Nol6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:1,981,832...1,997,153
Ensembl chrNW_004936524:1,982,898...1,997,054 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Maroteaux type | ClinVar Annotator: match by term: ST. HELENA DYSPLASIA OMIM
ClinVar		 PMID:9536098 PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 More... NCBI chrNW_004936524:3,779,398...3,798,074
Ensembl chrNW_004936524:3,779,392...3,798,501 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:2,438,947...2,452,647
Ensembl chrNW_004936524:2,441,860...2,454,174 		JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:4,700,815...4,887,035
Ensembl chrNW_004936524:4,700,841...4,887,106 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,020,421...3,031,720
Ensembl chrNW_004936524:3,005,705...3,031,744 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,116,627...3,126,681
Ensembl chrNW_004936524:3,118,010...3,125,587 		JBrowse link
G Polr1e RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:5,265,489...5,284,231
Ensembl chrNW_004936524:5,265,441...5,288,417 		JBrowse link
G Reck reversion inducing cysteine rich protein with kazal motifs ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:4,021,666...4,099,703
Ensembl chrNW_004936524:4,021,660...4,099,705 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,742,590...3,746,371
Ensembl chrNW_004936524:3,742,596...3,750,742 		JBrowse link
G Rigi RNA sensor RIG-I ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:1,141,840...1,200,638
Ensembl chrNW_004936524:1,140,971...1,200,638 		JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:4,281,124...4,359,378
Ensembl chrNW_004936524:4,281,224...4,337,733 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:2,692,179...2,694,461 JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,535,122...3,594,452
Ensembl chrNW_004936524:3,535,175...3,596,077 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:2,717,885...2,720,874
Ensembl chrNW_004936524:2,715,769...2,721,085 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,649,195...3,650,792
Ensembl chrNW_004936524:3,649,714...3,650,679 		JBrowse link
G Smu1 SMU1 DNA replication regulator and spliceosomal factor ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:1,615,299...1,639,133
Ensembl chrNW_004936524:1,615,129...1,639,193 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 PMID:18945719 More... NCBI chrNW_004936524:3,798,144...3,801,479
Ensembl chrNW_004936524:3,798,281...3,800,704 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:2,804,957...2,810,940 JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,074,901...3,079,980
Ensembl chrNW_004936524:3,075,250...3,079,233 		JBrowse link
G Spink4 serine peptidase inhibitor Kazal type 4 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:1,784,805...1,789,464
Ensembl chrNW_004936524:1,785,415...1,790,954 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,129,149...3,132,405
Ensembl chrNW_004936524:3,129,148...3,133,056 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,615,933...3,620,384
Ensembl chrNW_004936524:3,615,927...3,621,474 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,693,679...3,727,055
Ensembl chrNW_004936524:3,693,679...3,727,098 		JBrowse link
G Tmem215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:1,395,860...1,402,013
Ensembl chrNW_004936524:1,400,526...1,401,233 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,816,524...3,840,959
Ensembl chrNW_004936524:3,816,490...3,843,349 		JBrowse link
G Tomm5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:5,371,768...5,375,443
Ensembl chrNW_004936524:5,371,775...5,375,443 		JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:1,219,101...1,229,937
Ensembl chrNW_004936524:1,219,907...1,229,723 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,679,719...3,687,828
Ensembl chrNW_004936524:3,679,560...3,688,308 		JBrowse link
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:5,561,622...5,579,263
Ensembl chrNW_004936524:5,561,647...5,579,230 		JBrowse link
G Ubap1 ubiquitin associated protein 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:2,322,653...2,373,685
Ensembl chrNW_004936524:2,322,634...2,374,349 		JBrowse link
G Ubap2 ubiquitin associated protein 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:2,107,263...2,210,200
Ensembl chrNW_004936524:2,107,230...2,210,225 		JBrowse link
G Ube2r2 ubiquitin conjugating enzyme E2 R2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:2,005,508...2,103,878
Ensembl chrNW_004936524:2,005,590...2,103,389 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,320,859...3,369,865 JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:3,085,959...3,102,461
Ensembl chrNW_004936524:3,085,500...3,102,466 		JBrowse link
G Zbtb5 zinc finger and BTB domain containing 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:5,220,785...5,253,812
Ensembl chrNW_004936524:5,222,968...5,253,812 		JBrowse link
G Zcchc7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004936524:4,927,956...5,154,225
Ensembl chrNW_004936524:4,927,836...5,168,337 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      musculoskeletal system disease 7377
        bone disease 3672
          spinal disease 1029
            acromesomelic dysplasia, Maroteaux type 81
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      musculoskeletal system disease 7377
        connective tissue disease 5008
          bone disease 3672
            bone development disease 2181
              osteochondrodysplasia 832
                acromesomelic dysplasia 85
                  acromesomelic dysplasia, Maroteaux type 81
paths to the root