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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:short-rib thoracic dysplasia 9 with or without polydactyly
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Accession:DOID:0110097 term browser browse the term
Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: MZSDS;   Mainzer-Saldino chondrodysplasia;   Mainzer-Saldino disease;   Mainzer-Saldino syndrome;   SRTD9;   conorenal dysplasia;   conorenal syndrome;   renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia;   short-rib thoracic dysplasia 9
 related_synonym: short-rib thoracic dysplasia without polydactyly
 primary_id: MESH:C535463
 alt_id: OMIM:266920


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short-rib thoracic dysplasia 9 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,735,206...1,778,100
Ensembl chrNW_004936694:1,736,207...1,778,116
JBrowse link
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:336,269...449,490
Ensembl chrNW_004936694:336,269...452,943
JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,698,234...4,723,131
Ensembl chrNW_004936530:4,695,401...4,722,924
JBrowse link
G Arhgdig Rho GDP dissociation inhibitor gamma ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:637,150...640,984
Ensembl chrNW_004936501:637,299...639,096
JBrowse link
G Atp6v0c ATPase H+ transporting V0 subunit c ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,536,393...1,542,218 JBrowse link
G Axin1 axin 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:599,963...633,837
Ensembl chrNW_004936501:599,919...633,873
JBrowse link
G Baiap3 BAI1 associated protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,542,521...2,556,540
Ensembl chrNW_004936694:2,543,195...2,556,540
JBrowse link
G Bicdl2 BICD family like cargo adaptor 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,136,862...1,144,045
Ensembl chrNW_004936694:1,138,125...1,143,787
JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,836,566...1,838,950
Ensembl chrNW_004936694:1,837,357...1,838,819
JBrowse link
G C1qtnf8 C1q and TNF related 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:53,208...54,391 JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,702,224...2,724,574 JBrowse link
G Capn15 calpain 15 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:444,100...458,461
Ensembl chrNW_004936501:444,085...456,654
JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,856,529...1,868,107
Ensembl chrNW_004936694:1,856,603...1,866,617
JBrowse link
G Ccdc154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,468,281...2,475,901
Ensembl chrNW_004936694:2,468,281...2,475,487
JBrowse link
G Ccdc78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:289,765...294,272 JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,596,897...1,620,588
Ensembl chrNW_004936694:1,596,766...1,620,643
JBrowse link
G Cdip1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,559,062...4,578,896
Ensembl chrNW_004936530:4,556,566...4,562,503
JBrowse link
G Chtf18 chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:232,387...240,866 JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:277,525...286,929
Ensembl chrNW_004936501:277,518...286,932
JBrowse link
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,444,321...2,467,734
Ensembl chrNW_004936694:2,444,343...2,467,733
JBrowse link
G Cldn6 claudin 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,153,189...1,154,012
Ensembl chrNW_004936694:1,153,347...1,154,012
JBrowse link
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,155,252...1,156,007
Ensembl chrNW_004936694:1,155,259...1,155,912
JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:779,399...810,534
Ensembl chrNW_004936694:780,197...810,457
JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:96,107...152,075
Ensembl chrNW_004936694:96,110...152,133
JBrowse link
G Cramp1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,284,315...2,341,033
Ensembl chrNW_004936694:2,287,663...2,341,030
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:552,447...663,237
Ensembl chrNW_004936694:553,753...663,617
JBrowse link
G CUNH16orf90 chromosome unknown C16orf90 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:810,164...815,392
Ensembl chrNW_004936694:810,306...815,052
JBrowse link
G CUNH16orf91 chromosome unknown C16orf91 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,484,092...2,485,012
Ensembl chrNW_004936694:2,483,632...2,485,712
JBrowse link
G CUNH16orf96 chromosome unknown C16orf96 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,599,136...4,637,123 JBrowse link
G Decr2 2,4-dienoyl-CoA reductase 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:542,365...553,541
Ensembl chrNW_004936501:547,063...552,914
JBrowse link
G Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,725,294...4,738,515
Ensembl chrNW_004936530:4,725,279...4,738,554
JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:43,898...74,939
Ensembl chrNW_004936694:44,635...74,958
JBrowse link
G Dnase1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:704,948...715,846
Ensembl chrNW_004936694:704,692...710,501
JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,808,184...1,810,735
Ensembl chrNW_004936694:1,808,463...1,810,019
JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,811,131...1,829,193
Ensembl chrNW_004936694:1,809,882...1,829,157
JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,794,673...1,807,306
Ensembl chrNW_004936694:1,794,670...1,807,299
JBrowse link
G Elob elongin B ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,296,304...1,301,183
Ensembl chrNW_004936694:1,296,782...1,300,149
JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,217,352...2,220,556
Ensembl chrNW_004936694:2,217,811...2,220,432
JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,179,730...2,181,296 JBrowse link
G Fam234a family with sequence similarity 234 member A ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:648,859...679,012
Ensembl chrNW_004936501:649,017...656,930
JBrowse link
G Fbxl16 F-box and leucine rich repeat protein 16 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:308,682...320,774
Ensembl chrNW_004936501:308,531...319,055
JBrowse link
G Flywch1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,212,517...1,236,576
Ensembl chrNW_004936694:1,215,774...1,236,606
JBrowse link
G Flywch2 FLYWCH family member 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,241,550...1,251,555
Ensembl chrNW_004936694:1,243,090...1,251,591
JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,051,362...2,053,812
Ensembl chrNW_004936694:2,051,325...2,053,818
JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:161,419...168,012
Ensembl chrNW_004936694:163,501...167,659
JBrowse link
G Gng13 G protein subunit gamma 13 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:230,439...232,426
Ensembl chrNW_004936501:232,009...232,413
JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,529,634...2,540,474
Ensembl chrNW_004936694:2,529,640...2,540,328
JBrowse link
G Hagh hydroxyacylglutathione hydrolase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,181,475...2,200,469
Ensembl chrNW_004936694:2,181,501...2,194,007
JBrowse link
G Haghl hydroxyacylglutathione hydrolase like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:286,958...290,062
Ensembl chrNW_004936501:287,013...290,062
JBrowse link
G Hcfc1r1 host cell factor C1 regulator 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,147,364...1,148,954
Ensembl chrNW_004936694:1,147,196...1,148,986
JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,556,617...4,558,250
Ensembl chrNW_004936530:4,556,706...4,557,663
JBrowse link
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 Ensembl chrNW_004936694:2,100,040...2,105,658 JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19370764 PMID:20301784 More... NCBI chrNW_004936694:2,344,448...2,419,396
Ensembl chrNW_004936694:2,344,283...2,423,520
JBrowse link
G Igfals insulin like growth factor binding protein acid labile subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,205,294...2,207,343
Ensembl chrNW_004936694:2,204,182...2,207,328
JBrowse link
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:327,053...328,789
Ensembl chrNW_004936501:327,150...328,720
JBrowse link
G Jpt2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,265,360...2,283,887
Ensembl chrNW_004936694:2,265,360...2,283,878
JBrowse link
G Kctd5 potassium channel tetramerization domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,418,638...1,444,609 JBrowse link
G Kremen2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,201,008...1,205,593
Ensembl chrNW_004936694:1,201,812...1,205,246
JBrowse link
G Lmf1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:138,470...200,120
Ensembl chrNW_004936501:140,661...204,127
JBrowse link
G LOC101977328 olfactory receptor 15 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:901,542...905,354
Ensembl chrNW_004936694:902,347...903,285
JBrowse link
G Luc7l LUC7 like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:687,352...722,720
Ensembl chrNW_004936501:687,036...722,919
JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,223,020...2,263,388
Ensembl chrNW_004936694:2,222,996...2,263,390
JBrowse link
G Mcrip2 MAPK regulated corepressor interacting protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:360,671...365,512
Ensembl chrNW_004936501:360,688...365,497
JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:970,706...980,605 JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,099,967...2,176,279 JBrowse link
G Metrn meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:295,970...301,344
Ensembl chrNW_004936501:294,359...296,020
Ensembl chrNW_004936501:294,359...296,020
JBrowse link
G Mettl26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:368,532...371,075
Ensembl chrNW_004936501:368,775...371,075
JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,647,550...4,693,143
Ensembl chrNW_004936530:4,652,464...4,693,999
JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,839,135...1,849,307
Ensembl chrNW_004936694:1,834,701...1,842,719
JBrowse link
G Mmp25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,118,432...1,128,315
Ensembl chrNW_004936694:1,118,670...1,128,261
JBrowse link
G Mrpl28 mitochondrial ribosomal protein L28 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:580,863...583,540
Ensembl chrNW_004936501:580,932...583,271
JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,220,492...2,221,716
Ensembl chrNW_004936694:2,220,475...2,221,714
JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,086,573...2,090,752
Ensembl chrNW_004936694:2,086,822...2,089,932
JBrowse link
G Naa60 N-alpha-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:818,386...838,258
Ensembl chrNW_004936694:818,393...838,260
JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,073,481...2,075,989
Ensembl chrNW_004936694:2,073,354...2,076,043
JBrowse link
G Nherf2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,000,977...2,006,102
Ensembl chrNW_004936694:2,000,854...2,006,567
JBrowse link
G Nhlrc4 NHL repeat containing 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:430,023...433,632 JBrowse link
G Nlrc3 NLR family CARD domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:757,121...773,924 JBrowse link
G Nme3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,222,055...2,222,977
Ensembl chrNW_004936694:2,221,915...2,222,814
JBrowse link
G Nme4 NME/NM23 nucleoside diphosphate kinase 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:553,931...557,744 JBrowse link
G Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:33,738...40,716
Ensembl chrNW_004936694:35,903...44,926
JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,054,429...2,060,098
Ensembl chrNW_004936694:2,057,836...2,059,891
JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,017,040...2,019,583 JBrowse link
G Nthl1 nth like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,993,443...2,000,323
Ensembl chrNW_004936694:1,993,443...2,000,333
JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,581,322...1,585,893
Ensembl chrNW_004936694:1,582,643...1,585,455
JBrowse link
G Nubp2 NUBP iron-sulfur cluster assembly factor 2, cytosolic ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,208,102...2,211,910
Ensembl chrNW_004936694:2,208,518...2,211,653
JBrowse link
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:153,958...161,635
Ensembl chrNW_004936694:153,959...161,635
JBrowse link
G Paqr4 progestin and adipoQ receptor family member 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,196,650...1,200,067
Ensembl chrNW_004936694:1,196,527...1,200,091
JBrowse link
G Pdia2 protein disulfide isomerase family A member 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:634,034...637,177
Ensembl chrNW_004936501:634,118...637,000
JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,444,819...1,487,628
Ensembl chrNW_004936694:1,444,880...1,488,265
Ensembl chrNW_004936694:1,444,880...1,488,265
JBrowse link
G Pgap6 post-GPI attachment to proteins 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:564,963...580,617 JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,834,016...1,836,359 JBrowse link
G Pigq phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:415,232...429,902
Ensembl chrNW_004936501:414,905...429,600
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,923,383...1,958,160
Ensembl chrNW_004936694:1,930,621...1,957,179
JBrowse link
G Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,191,534...1,196,532
Ensembl chrNW_004936694:1,188,442...1,199,079
JBrowse link
G Prr35 proline rich 35 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:433,726...439,882
Ensembl chrNW_004936501:433,931...435,902
JBrowse link
G Prss22 serine protease 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,381,624...1,385,973
Ensembl chrNW_004936694:1,381,623...1,386,042
JBrowse link
G Prss27 serine protease 27 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,408,379...1,415,137
Ensembl chrNW_004936694:1,407,861...1,415,228
JBrowse link
G Prss33 serine protease 33 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,305,167...1,307,695
Ensembl chrNW_004936694:1,305,757...1,307,621
JBrowse link
G Prss41 serine protease 41 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,313,785...1,314,690 JBrowse link
G Ptx4 pentraxin 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,435,291...2,439,837
Ensembl chrNW_004936694:2,436,755...2,441,802
JBrowse link
G Rab11fip3 RAB11 family interacting protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:470,307...535,958
Ensembl chrNW_004936501:467,171...535,964
JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,896,360...1,902,272
Ensembl chrNW_004936694:1,893,076...1,902,605
JBrowse link
G Rab40c RAB40C, member RAS oncogene family ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:375,663...409,243
Ensembl chrNW_004936501:373,859...409,267
JBrowse link
G Rgs11 regulator of G protein signaling 11 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:641,339...647,833
Ensembl chrNW_004936501:641,391...651,098
JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:332,838...335,057
Ensembl chrNW_004936501:332,512...335,276
JBrowse link
G Rhot2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:336,506...341,671 JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,066,869...2,069,537 JBrowse link
G Rnps1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,784,396...1,794,269
Ensembl chrNW_004936694:1,784,480...1,793,481
JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,756,069...4,761,484
Ensembl chrNW_004936530:4,753,751...4,761,695
JBrowse link
G Rpl3l ribosomal protein L3 like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,078,903...2,086,333
Ensembl chrNW_004936694:2,078,903...2,086,354
JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,071,295...2,073,409 JBrowse link
G Rpusd1 RNA pseudouridine synthase domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:241,190...244,180
Ensembl chrNW_004936501:241,232...244,366
JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,744,772...4,750,495
Ensembl chrNW_004936530:4,744,818...4,750,521
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:720,585...744,477
Ensembl chrNW_004936694:722,481...744,600
JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,754,946...4,755,830
Ensembl chrNW_004936530:4,755,222...4,755,817
JBrowse link
G Sox8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:128,386...132,648
Ensembl chrNW_004936501:127,703...132,704
JBrowse link
G Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,212,022...2,217,409
Ensembl chrNW_004936694:2,212,299...2,217,140
JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:224,023...275,069 JBrowse link
G Srrm2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,280,104...1,296,301
Ensembl chrNW_004936694:1,280,155...1,295,779
JBrowse link
G Sstr5 somatostatin receptor 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:60,812...63,149
Ensembl chrNW_004936501:62,031...63,122
JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:328,767...330,963
Ensembl chrNW_004936501:326,451...330,983
JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,043,646...2,047,897
Ensembl chrNW_004936694:2,043,657...2,047,883
JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,556,717...1,582,019
Ensembl chrNW_004936694:1,556,244...1,569,201
JBrowse link
G Tbl3 transducin beta like 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,060,218...2,066,525
Ensembl chrNW_004936694:2,060,220...2,066,575
JBrowse link
G Tedc2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,591,392...1,595,693
Ensembl chrNW_004936694:1,590,919...1,595,719
JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,418,223...2,433,630
Ensembl chrNW_004936694:2,419,855...2,433,767
JBrowse link
G Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:210,863...222,531
Ensembl chrNW_004936694:210,672...222,619
JBrowse link
G Thoc6 THO complex subunit 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,144,122...1,147,345
Ensembl chrNW_004936694:1,143,345...1,147,345
JBrowse link
G Tigd7 tigger transposable element derived 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:938,233...943,347
Ensembl chrNW_004936694:941,533...943,182
JBrowse link
G Tmem204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,382,672...2,402,798
Ensembl chrNW_004936694:2,382,662...2,402,981
JBrowse link
G Tnfrsf12a TNF receptor superfamily member 12A ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,149,169...1,151,098
Ensembl chrNW_004936694:1,149,076...1,151,151
JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,868,309...1,886,772 JBrowse link
G Trap1 TNF receptor associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:667,687...704,994
Ensembl chrNW_004936694:667,691...704,994
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363
JBrowse link
G Tsr3 TSR3 ribosome maturation factor ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,540,446...2,542,666
Ensembl chrNW_004936694:2,540,444...2,542,666
JBrowse link
G Ubald1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,641,859...4,647,264
Ensembl chrNW_004936530:4,638,114...4,647,921
JBrowse link
G Ube2i ubiquitin conjugating enzyme E2 I ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,561,701...2,571,284
Ensembl chrNW_004936694:2,561,681...2,576,647
JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,492,102...2,529,662
Ensembl chrNW_004936694:2,492,102...2,527,305
JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:128,398...138,954
Ensembl chrNW_004936694:128,273...138,954
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:25741868 PMID:33002628 PMID:33532864 NCBI chrNW_004936482:6,863,592...6,937,810
Ensembl chrNW_004936482:6,863,571...6,937,979
JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:321,877...326,984
Ensembl chrNW_004936501:321,924...327,253
JBrowse link
G Wdr90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:342,376...359,853
Ensembl chrNW_004936501:342,664...359,776
JBrowse link
G Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:371,328...375,271
Ensembl chrNW_004936501:371,384...373,859
JBrowse link
G Zg16b zymogen granule protein 16B ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532
G Znf174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:870,271...881,273
Ensembl chrNW_004936694:870,123...881,299
JBrowse link
G Znf200 zinc finger protein 200 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:988,300...998,829
Ensembl chrNW_004936694:989,709...1,003,183
JBrowse link
G Znf205 zinc finger protein 205 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,072,633...1,084,923
Ensembl chrNW_004936694:1,072,653...1,081,755
JBrowse link
G Znf213 zinc finger protein 213 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,054,433...1,060,659
Ensembl chrNW_004936694:1,055,346...1,058,878
JBrowse link
G Znf263 zinc finger protein 263 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:948,042...954,920
Ensembl chrNW_004936694:948,033...954,957
JBrowse link
G Znf597 zinc finger protein 597 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:849,369...854,290
Ensembl chrNW_004936694:849,681...856,887
JBrowse link
G Znf598 zinc finger protein 598, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,019,714...2,035,885
Ensembl chrNW_004936694:2,023,806...2,036,864
JBrowse link
G Znf75a zinc finger protein 75a ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:907,382...936,997 JBrowse link
G Zscan10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,100,190...1,107,114
Ensembl chrNW_004936694:1,100,190...1,107,010
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9489
      asphyxiating thoracic dystrophy 224
        short-rib thoracic dysplasia 9 with or without polydactyly 154
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        central nervous system disease 11056
          brain disease 10378
            movement disease 2374
              Dyskinesias 2030
                Ataxia 882
                  hereditary ataxia 596
                    cerebellar ataxia 444
                      short-rib thoracic dysplasia 9 with or without polydactyly 154
paths to the root