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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;   Polydactyly with Neonatal Chondrodystrophy, Type 2;   SRPS, Type II;   SRPS2A;   SRTD6;   Short Rib Polydactyly Syndrome, Type II;   Short Rib-Polydactyly Syndrome, Type IIA
 primary_id: OMIM:263520
 alt_id: RDO:9004138
For additional species annotation, visit the Alliance of Genome Resources.


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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 14 20,144,631 20,332,248 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12166
    syndrome 5250
      asphyxiating thoracic dystrophy 41
        short-rib thoracic dysplasia 6 with or without polydactyly 1
Path 2
Term Annotations click to browse term
  disease 12166
    disease of anatomical entity 11828
      musculoskeletal system disease 4791
        connective tissue disease 3469
          bone disease 2990
            bone development disease 1224
              osteochondrodysplasia 404
                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.