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ONTOLOGY REPORT - ANNOTATIONS


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;   Polydactyly With Neonatal Chondrodystrophy, Type II;   SRPS type II;   SRPS2A;   SRTD6;   Short Rib Polydactyly Syndrome, Type II;   Short Rib-Polydactyly Syndrome, Type IIA;   polydactyly with neonatal chondrodystrophy, type 2
 primary_id: OMIM:263520
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short-rib thoracic dysplasia 6 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEK1 NIMA related kinase 1 JBrowse link 4 173,690,074 173,902,100 RGD:9068941
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12060
    syndrome 5232
      asphyxiating thoracic dystrophy 41
        short-rib thoracic dysplasia 6 with or without polydactyly 1
Path 2
Term Annotations click to browse term
  disease 12060
    disease of anatomical entity 11720
      musculoskeletal system disease 4739
        connective tissue disease 3440
          bone disease 2970
            bone development disease 1210
              osteochondrodysplasia 406
                asphyxiating thoracic dystrophy 41
                  short-rib thoracic dysplasia 6 with or without polydactyly 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.