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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 6 with or without polydactyly
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Accession:DOID:0110092 term browser browse the term
Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33. (DO)
Synonyms:exact_synonym: Majewski syndrome;   SRPS type II;   SRPS2A;   SRTD6;   Short Rib Polydactyly Syndrome, Type II;   Short Rib-Polydactyly Syndrome, Type IIA;   polydactyly with neonatal chondrodystrophy, type 2;   polydactyly with neonatal chondrodystrophy, type II
 primary_id: OMIM:263520
 xref: NCI:C122654


show annotations for term's descendants           Sort by:
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 Alpk3 alpha-kinase 3 ISO ClinVar Annotator: match by term: SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:135,014,455...135,062,294
Ensembl chr 1:135,014,499...135,062,302 		JBrowse link
G Cbr4 carbonyl reductase 4 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:22499340 PMID:28492532 PMID:29068549 NCBI chr16:28,629,928...28,684,230
Ensembl chr16:28,617,224...28,645,712 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:16199547 PMID:23339108 PMID:25741868 PMID:26938784 PMID:28492532 More... NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:29068549 NCBI chr 6:9,992,537...10,025,355
Ensembl chr 6:9,992,541...10,025,336 		JBrowse link
G Evc EvC ciliary complex subunit 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:9066272 PMID:9536098 PMID:10700162 PMID:10700184 PMID:14217223 More... NCBI chr14:73,456,181...73,498,955
Ensembl chr14:73,456,222...73,498,099 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:12571802 PMID:17024374 PMID:19810119 PMID:19876929 PMID:21199751 More... NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516 		JBrowse link
G Fuz fuzzy planar cell polarity protein ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:29068549 NCBI chr 1:95,379,542...95,384,532
Ensembl chr 1:95,379,587...95,384,530 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:24140113 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860 		JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:29068549 NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833 		JBrowse link
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:19648123 PMID:28492532 PMID:29068549 PMID:30266093 NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024 		JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar
OMIM		 PMID:3014367 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21211617 More... NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723 		JBrowse link
G Palld palladin, cytoskeletal associated protein ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:22499340 PMID:28492532 PMID:29068549 NCBI chr16:28,228,006...28,621,349
Ensembl chr16:27,981,354...28,621,337 		JBrowse link
G Sh3rf1 SH3 domain containing ring finger 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:22499340 PMID:28492532 PMID:29068549 NCBI chr16:28,735,522...28,901,261
Ensembl chr16:28,735,440...28,901,644 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:16199547 PMID:21945076 PMID:26487268 PMID:28492532 PMID:29068549 NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 More... NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 PMID:28870638 PMID:29068549 NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    syndrome 10710
      asphyxiating thoracic dystrophy 230
        short-rib thoracic dysplasia 6 with or without polydactyly 16
Path 2
Term Annotations click to browse term
  disease 21112
    disease of anatomical entity 18151
      musculoskeletal system disease 8202
        connective tissue disease 5695
          bone disease 4209
            bone development disease 2248
              osteochondrodysplasia 847
                asphyxiating thoracic dystrophy 230
                  short-rib thoracic dysplasia 6 with or without polydactyly 16
paths to the root