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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:asphyxiating thoracic dystrophy
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Accession:DOID:0050592 term browser browse the term
Definition:A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. (DO)
Synonyms:exact_synonym: Jeune syndrome;   Jeune thoracic dysplasia;   Jeune thoracic dystrophy;   Jeune's syndrome;   asphyxiating thoracic dystrophy (ATD);   conorenal syndrome;   short rib polydactyly syndrome, Majewski type;   short rib-polydactyly syndrome;   short rib-polydactyly syndromes;   short-rib thoracic dysplasia with or without polydactyly;   thoracic pelvic phalangeal dystrophy
 narrow_synonym: short ribs
 primary_id: MESH:D012779
 xref: NCI:C84794;   OMIM:PS208500;   ORDO:474
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
asphyxiating thoracic dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 NCBI chr10:47,784,294...47,794,399
Ensembl chr10:47,785,033...47,792,590
Ensembl chr10:47,785,033...47,792,590 		JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868, PMID:26092869 NCBI chr 1:165,382,279...165,480,088
Ensembl chr 1:165,382,690...165,479,655 		JBrowse link
G Cep120 centrosomal protein 120 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:48,658,495...48,720,570
Ensembl chr18:48,658,495...48,720,472 		JBrowse link
G Cilk1 ciliogenesis associated kinase 1 ISO ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome ClinVar PMID:27466187 NCBI chr 8:85,413,998...85,473,374
Ensembl chr 8:85,413,537...85,472,694 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Short ribs ClinVar PMID:25741868, PMID:30311386 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type		 CTD
ClinVar		 PMID:19361615, PMID:19442771, PMID:21211617, PMID:22499340, PMID:23339108, PMID:23456818, PMID:24033266, PMID:24123776, PMID:24759409, PMID:25356970, PMID:25741868, PMID:25982780, PMID:26826164, PMID:26938784, PMID:27925158, PMID:28492532, PMID:28973083, PMID:29068549, PMID:30311386 NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581 		JBrowse link
G Dync2i1 dynein 2 intermediate chain 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy		 CTD
ClinVar		 PMID:29068549 NCBI chr 6:144,069,077...144,124,975
Ensembl chr 6:144,069,022...144,123,729 		JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy		 CTD
ClinVar		 PMID:19610081, PMID:24183451, PMID:29068549 NCBI chr 3:8,599,251...8,615,329
Ensembl chr 3:8,599,148...8,615,532 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type		 CTD
ClinVar		 PMID:29068549 NCBI chr 6:7,900,962...7,933,795
Ensembl chr 6:7,900,972...7,933,796 		JBrowse link
G Dynlt2b dynein light chain Tctex-type 2B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:71,593,302...71,601,662
Ensembl chr11:71,593,302...71,601,662 		JBrowse link
G Evc EvC ciliary complex subunit 1 ISO ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type ClinVar PMID:9066272, PMID:10700162, PMID:10700184, PMID:14217223, PMID:17024374, PMID:19810119, PMID:23220543, PMID:25741868, PMID:28492532, PMID:29068549 NCBI chr14:78,213,601...78,253,266
Ensembl chr14:78,213,635...78,253,266 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type		 ClinVar PMID:12571802, PMID:17024374, PMID:19251731, PMID:19810119, PMID:19876929, PMID:21199751, PMID:22190900, PMID:23026208, PMID:25741868, PMID:28492532, PMID:29068549 NCBI chr14:78,128,620...78,212,394
Ensembl chr14:78,129,749...78,211,931 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Short ribs ClinVar PMID:1908846, PMID:7773297, PMID:8589699, PMID:8858131, PMID:9677066, PMID:10073901, PMID:10471491, PMID:10696568, PMID:11038465, PMID:11241532, PMID:11529856, PMID:11879084, PMID:12833394, PMID:15772091, PMID:16841094, PMID:17384684, PMID:18642369, PMID:19381019, PMID:19749790, PMID:25157968, PMID:25606676, PMID:25741868, PMID:26619011, PMID:28492532, PMID:30311386 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706 		JBrowse link
G Flvcr1 FLVCR heme transporter 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:27666822 NCBI chr13:109,624,167...109,629,609
Ensembl chr13:109,578,074...109,629,482 		JBrowse link
G Fuz fuzzy planar cell polarity protein ISO ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type ClinVar PMID:29068549 NCBI chr 1:100,891,832...100,896,811
Ensembl chr 1:100,891,866...100,896,807 		JBrowse link
G Ift140 intraflagellar transport 140 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia		 CTD
ClinVar		 PMID:22503633, PMID:23418020, PMID:24009529, PMID:25741868, PMID:26216056, PMID:28288023, PMID:28492532, PMID:28559085, PMID:28724397, PMID:29068549, PMID:29688594 NCBI chr10:14,373,668...14,461,509
Ensembl chr10:14,373,679...14,461,160 		JBrowse link
G Ift172 intraflagellar transport 172 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type		 CTD
ClinVar		 PMID:28492532, PMID:29068549 NCBI chr 6:26,390,686...26,485,459 JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome		 ClinVar PMID:21378380, PMID:25741868, PMID:28400947, PMID:28492532, PMID:29068549 NCBI chr 6:109,939,323...110,016,646
Ensembl chr 6:109,939,345...110,016,644 		JBrowse link
G Ift52 intraflagellar transport 52 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
ClinVar Annotator: match by term: Jeune thoracic dystrophy		 CTD
ClinVar		 PMID:27466190, PMID:29068549 NCBI chr 3:159,388,868...159,413,358
Ensembl chr 3:159,392,193...159,413,575 		JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type ClinVar PMID:29068549 NCBI chr 5:113,579,065...113,682,485
Ensembl chr 5:113,592,919...113,682,484 		JBrowse link
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
ClinVar Annotator: match by term: Jeune thoracic dystrophy		 ClinVar PMID:17468754, PMID:19610081, PMID:19648123, PMID:21227999, PMID:23339108, PMID:25741868, PMID:28492532, PMID:29068549, PMID:30266093, PMID:30767363 NCBI chr 2:165,506,878...165,600,748
Ensembl chr 2:165,505,810...165,600,748 		JBrowse link
G Ift81 intraflagellar transport 81 ISO ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome ClinVar PMID:25741868, PMID:27666822 NCBI chr12:39,420,161...39,507,412
Ensembl chr12:39,423,596...39,506,890 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chr15:37,690,417...37,786,855
Ensembl chr15:37,691,345...37,784,924 		JBrowse link
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome		 ClinVar PMID:25741868, PMID:27158779, PMID:29068549 NCBI chr 2:127,589,325...127,611,705
Ensembl chr 2:127,459,012...127,525,437 		JBrowse link
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chr13:100,431,390...100,450,209 JBrowse link
G LOC690035 similar to Protein KIAA0586 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy		 CTD
ClinVar		 PMID:25741868 NCBI chr 6:93,562,775...93,667,857
Ensembl chr 6:93,563,446...93,667,675 		JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome ClinVar PMID:25741868 NCBI chr 6:34,071,428...34,091,048
Ensembl chr 6:34,071,428...34,091,048 		JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by OMIM:263520
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
DNA:nonsense, transition mutations:cds,splice junction:c.379C>T (p.R127X,)c.869-2A>G (human)
DNA:missense, frameshift, nonsense mutations:cds,splice junction:		 ClinVar
CTD		 PMID:21211617, PMID:22482978, PMID:22499340, PMID:23757202, PMID:24033266, PMID:25492405, PMID:25741868, PMID:26945885, PMID:28089114, PMID:28123176, PMID:28492532, PMID:28710492, PMID:29068549, PMID:21211617, PMID:22499340 RGD:11069733, RGD:11072153 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421 		JBrowse link
G RGD1304728 similar to 4933427D14Rik protein ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868, PMID:29138412 NCBI chr10:58,726,721...58,776,718
Ensembl chr10:58,729,306...58,771,908 		JBrowse link
G Sltm SAFB-like, transcription modulator ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:27666822 NCBI chr 8:76,977,698...77,022,847
Ensembl chr 8:76,977,822...77,022,837 		JBrowse link
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` ISS MouseDO NCBI chr 4:95,884,020...95,945,248
Ensembl chr 4:95,884,743...95,945,248 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type ClinVar PMID:29068549 NCBI chr 9:98,621,499...98,658,223
Ensembl chr 9:98,621,506...98,656,901 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type		 CTD
ClinVar		 PMID:18327258, PMID:18414213, PMID:21068128, PMID:21258341, PMID:22773737, PMID:23559409, PMID:24033266, PMID:24876116, PMID:25492405, PMID:25741868, PMID:26489029, PMID:26940125, PMID:27491411, PMID:28492532, PMID:29068549 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Jeune's syndrome		 ClinVar PMID:22019273, PMID:23559409, PMID:23683095, PMID:25741868, PMID:26275793, PMID:27241786, PMID:28492532, PMID:28973083, PMID:29068549 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
ClinVar Annotator: match by term: Jeune thoracic dystrophy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:22486404, PMID:24033266, PMID:25741868, PMID:25914204, PMID:27158779, PMID:28332779, PMID:28400947, PMID:28492532, PMID:28870638, PMID:29068549 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622 		JBrowse link
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:26077881 NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:19442771, PMID:23339108, PMID:23456818, PMID:25741868, PMID:28492532, PMID:29068549, PMID:30311386 NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:26077881 NCBI chr 6:7,900,962...7,933,795
Ensembl chr 6:7,900,972...7,933,796 		JBrowse link
G Ift140 intraflagellar transport 140 ISS OMIM:208500 MouseDO NCBI chr10:14,373,668...14,461,509
Ensembl chr10:14,373,679...14,461,160 		JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:25741868 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258341 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:23559409, PMID:23683095, PMID:25741868, PMID:28492532, PMID:28973083, PMID:29068549 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22486404, PMID:24033266, PMID:25914204, PMID:28332779, PMID:28492532, PMID:29068549 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622 		JBrowse link
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2
ClinVar Annotator: match by OMIM:611263		 OMIM
ClinVar		 PMID:17468754, PMID:19610081, PMID:19648123, PMID:25741868, PMID:28492532 NCBI chr 2:165,506,878...165,600,748
Ensembl chr 2:165,505,810...165,600,748 		JBrowse link
asphyxiating thoracic dystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly
ClinVar Annotator: match by term: Short-rib polydactyly syndrome type III		 ClinVar
OMIM		 PMID:19361615, PMID:19442771, PMID:21211617, PMID:22499340, PMID:23339108, PMID:23456818, PMID:24033266, PMID:24123776, PMID:24759409, PMID:25326635, PMID:25741868, PMID:26826164, PMID:26938784, PMID:27925158, PMID:28492532, PMID:29068549, PMID:30311386 NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581 		JBrowse link
G Dync2i1 dynein 2 intermediate chain 1 ISO ClinVar Annotator: match by term: Short-rib polydactyly syndrome type III ClinVar PMID:29068549 NCBI chr 6:144,069,077...144,124,975
Ensembl chr 6:144,069,022...144,123,729 		JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Short-rib polydactyly syndrome type III ClinVar PMID:29068549 NCBI chr 3:8,599,251...8,615,329
Ensembl chr 3:8,599,148...8,615,532 		JBrowse link
G Dynlt2b dynein light chain Tctex-type 2B ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly ClinVar NCBI chr11:71,593,302...71,601,662
Ensembl chr11:71,593,302...71,601,662 		JBrowse link
G Fam98c family with sequence similarity 98, member C ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly ClinVar NCBI chr 1:88,095,240...88,098,828
Ensembl chr 1:88,095,241...88,098,785 		JBrowse link
G Ift80 intraflagellar transport 80 ISS OMIM:613091 MouseDO NCBI chr 2:165,506,878...165,600,748
Ensembl chr 2:165,505,810...165,600,748 		JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly ClinVar PMID:21211617, PMID:25741868 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421 		JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly ClinVar NCBI chr10:56,446,022...56,447,138
Ensembl chr10:56,445,647...56,447,138 		JBrowse link
asphyxiating thoracic dystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4
ClinVar Annotator: match by OMIM:613819		 OMIM
ClinVar		 PMID:18414213, PMID:21258341, PMID:22773737, PMID:24033266, PMID:24876116, PMID:25492405, PMID:25741868, PMID:26940125, PMID:28492532, PMID:29068549 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060 		JBrowse link
asphyxiating thoracic dystrophy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5
ClinVar Annotator: match by OMIM:614376		 OMIM
ClinVar		 PMID:19430947, PMID:22019273, PMID:23559409, PMID:23683095, PMID:25726036, PMID:25741868, PMID:26260382, PMID:26275793, PMID:26489029, PMID:27241786, PMID:27596865, PMID:28492532, PMID:28621010, PMID:28973083, PMID:29068549, PMID:30266093, PMID:31837199 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120 		JBrowse link
Beemer-Langer syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:26826164, PMID:28492532, PMID:29068549 NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:17024374, PMID:19876929, PMID:28492532, PMID:29068549 NCBI chr14:78,128,620...78,212,394
Ensembl chr14:78,129,749...78,211,931 		JBrowse link
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:28492532, PMID:29068549 NCBI chr 2:165,506,878...165,600,748
Ensembl chr 2:165,505,810...165,600,748 		JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:29068549 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:25492405, PMID:29068549 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:29068549 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120 		JBrowse link
Saldino-Noonan syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Short-rib polydactyly syndrome type I
ClinVar Annotator: match by term: Short rib-polydactyly syndrome Saldino-Noonan type
ClinVar Annotator: match by term: Saldino-Noonan Syndrome		 ClinVar PMID:19442771, PMID:23339108, PMID:23456818, PMID:25741868, PMID:28492532, PMID:29068549, PMID:30311386 NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581 		JBrowse link
short-rib thoracic dysplasia 10 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly
ClinVar Annotator: match by OMIM:615630		 OMIM
ClinVar		 PMID:2516386, PMID:11030072, PMID:24033266, PMID:24140113, PMID:25168386, PMID:25664603, PMID:25741868, PMID:26092869, PMID:26763875, PMID:28492532, PMID:28559085, PMID:29068549 NCBI chr 6:26,390,686...26,485,459 JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:11030072, PMID:24140113, PMID:25664603, PMID:25741868, PMID:28492532 NCBI chr 6:26,485,126...26,486,695
Ensembl chr 6:26,485,126...26,486,695 		JBrowse link
short-rib thoracic dysplasia 11 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync2i2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly
ClinVar Annotator: match by OMIM:615633		 OMIM
ClinVar		 PMID:19610081, PMID:24183449, PMID:24183451, PMID:28492532, PMID:29068549 NCBI chr 3:8,599,251...8,615,329
Ensembl chr 3:8,599,148...8,615,532 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly ClinVar PMID:28492532 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260 		JBrowse link
short-rib thoracic dysplasia 13 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep120 centrosomal protein 120 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 13 with or without polydactyly OMIM
ClinVar		 PMID:25361962, PMID:25741868, PMID:27208211, PMID:28492532 NCBI chr18:48,658,495...48,720,570
Ensembl chr18:48,658,495...48,720,472 		JBrowse link
short-rib thoracic dysplasia 14 with polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC690035 similar to Protein KIAA0586 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 14 with polydactyly ClinVar
OMIM		 PMID:26166481, PMID:28492532 NCBI chr 6:93,562,775...93,667,857
Ensembl chr 6:93,563,446...93,667,675 		JBrowse link
Short-Rib Thoracic Dysplasia 15 with Polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY ClinVar PMID:26077881 NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by OMIM:617088
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly		 ClinVar
OMIM		 PMID:8960501, PMID:26077881, PMID:26130459, PMID:28492532, PMID:28857138 NCBI chr 6:7,900,962...7,933,795
Ensembl chr 6:7,900,972...7,933,796 		JBrowse link
Short-Rib Thoracic Dysplasia 16 with or without Polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift52 intraflagellar transport 52 ISO ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY ClinVar
OMIM		 PMID:26880018, PMID:27466190 NCBI chr 3:159,388,868...159,413,358
Ensembl chr 3:159,392,193...159,413,575 		JBrowse link
Short-Rib Thoracic Dysplasia 17 with or without Polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dynlt2b dynein light chain Tctex-type 2B ISO ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY ClinVar
OMIM		 NCBI chr11:71,593,302...71,601,662
Ensembl chr11:71,593,302...71,601,662 		JBrowse link
short-rib thoracic dysplasia 18 with polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY ClinVar
OMIM		 PMID:21378380, PMID:25741868, PMID:28400947, PMID:28492532 NCBI chr 6:109,939,323...110,016,646
Ensembl chr 6:109,939,345...110,016,644 		JBrowse link
short-rib thoracic dysplasia 19 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift81 intraflagellar transport 81 ISO ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY ClinVar
OMIM		 PMID:25741868, PMID:27666822 NCBI chr12:39,420,161...39,507,412
Ensembl chr12:39,423,596...39,506,890 		JBrowse link
Short-Rib Thoracic Dysplasia 20 with Polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY ClinVar
OMIM		 PMID:25741868, PMID:27158779 NCBI chr 2:127,589,325...127,611,705
Ensembl chr 2:127,459,012...127,525,437 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic ClinVar PMID:25741868, PMID:27158779, PMID:28400947, PMID:29068549 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622 		JBrowse link
short-rib thoracic dysplasia 6 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY OMIM
ClinVar		 PMID:25741868, PMID:28089114, PMID:28492532 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421 		JBrowse link
short-rib thoracic dysplasia 7 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Short rib polydactyly syndrome 5 ClinVar NCBI chr 6:34,071,428...34,091,048
Ensembl chr 6:34,071,428...34,091,048 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Short rib polydactyly syndrome 5
ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY
ClinVar Annotator: match by OMIM:614091		 OMIM
ClinVar		 PMID:17935248, PMID:21473986, PMID:22486404, PMID:24033266, PMID:25741868, PMID:25908617, PMID:25914204, PMID:27158779, PMID:28332779, PMID:28400947, PMID:28492532, PMID:29068549 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622 		JBrowse link
short-rib thoracic dysplasia 8 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync2i1 dynein 2 intermediate chain 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 8 with or without polydactyly
ClinVar Annotator: match by OMIM:615503		 OMIM
ClinVar		 PMID:23910462, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:144,069,077...144,124,975
Ensembl chr 6:144,069,022...144,123,729 		JBrowse link
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 Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly
ClinVar Annotator: match by OMIM:266920		 OMIM
ClinVar		 PMID:22503633, PMID:23418020, PMID:24009529, PMID:24698627, PMID:25741868, PMID:26216056, PMID:26359340, PMID:26766544, PMID:26968735, PMID:27058611, PMID:28041643, PMID:28288023, PMID:28492532, PMID:28559085, PMID:28724397, PMID:28991257, PMID:29068549, PMID:29688594, PMID:32860008 NCBI chr10:14,373,668...14,461,509
Ensembl chr10:14,373,679...14,461,160 		JBrowse link
G Ptx4 pentraxin 4 ISO ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia ClinVar PMID:28492532, PMID:29688594 NCBI chr10:14,481,044...14,486,277
Ensembl chr10:14,481,393...14,485,916 		JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia ClinVar PMID:28492532, PMID:29688594 NCBI chr10:14,461,581...14,476,812
Ensembl chr10:14,461,839...14,476,785 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      asphyxiating thoracic dystrophy 42
        Beemer-Langer syndrome 6
        Saldino-Noonan syndrome 1
        Short-Rib Thoracic Dysplasia 15 with Polydactyly 2
        Short-Rib Thoracic Dysplasia 16 with or without Polydactyly 1
        Short-Rib Thoracic Dysplasia 17 with or without Polydactyly 1
        Short-Rib Thoracic Dysplasia 20 with Polydactyly 2
        asphyxiating thoracic dystrophy 1 8
        asphyxiating thoracic dystrophy 2 1
        asphyxiating thoracic dystrophy 3 8
        asphyxiating thoracic dystrophy 4 1
        asphyxiating thoracic dystrophy 5 1
        short-rib thoracic dysplasia 10 with or without polydactyly 2
        short-rib thoracic dysplasia 11 with or without polydactyly 2
        short-rib thoracic dysplasia 13 with or without polydactyly 1
        short-rib thoracic dysplasia 14 with polydactyly 1
        short-rib thoracic dysplasia 18 with polydactyly 1
        short-rib thoracic dysplasia 19 with or without polydactyly 1
        short-rib thoracic dysplasia 6 with or without polydactyly 1
        short-rib thoracic dysplasia 7 with or without polydactyly 2
        short-rib thoracic dysplasia 8 with or without polydactyly 1
        short-rib thoracic dysplasia 9 with or without polydactyly 3
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              osteochondrodysplasia 445
                asphyxiating thoracic dystrophy 42
                  Beemer-Langer syndrome 6
                  Saldino-Noonan syndrome 1
                  Short-Rib Thoracic Dysplasia 15 with Polydactyly 2
                  Short-Rib Thoracic Dysplasia 16 with or without Polydactyly 1
                  Short-Rib Thoracic Dysplasia 17 with or without Polydactyly 1
                  Short-Rib Thoracic Dysplasia 20 with Polydactyly 2
                  asphyxiating thoracic dystrophy 1 8
                  asphyxiating thoracic dystrophy 2 1
                  asphyxiating thoracic dystrophy 3 8
                  asphyxiating thoracic dystrophy 4 1
                  asphyxiating thoracic dystrophy 5 1
                  short-rib thoracic dysplasia 10 with or without polydactyly 2
                  short-rib thoracic dysplasia 11 with or without polydactyly 2
                  short-rib thoracic dysplasia 13 with or without polydactyly 1
                  short-rib thoracic dysplasia 14 with polydactyly 1
                  short-rib thoracic dysplasia 18 with polydactyly 1
                  short-rib thoracic dysplasia 19 with or without polydactyly 1
                  short-rib thoracic dysplasia 6 with or without polydactyly 1
                  short-rib thoracic dysplasia 7 with or without polydactyly 2
                  short-rib thoracic dysplasia 8 with or without polydactyly 1
                  short-rib thoracic dysplasia 9 with or without polydactyly 3
paths to the root

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