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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 NW_004955403 36,710,248 36,878,901 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11416
    syndrome 4978
      asphyxiating thoracic dystrophy 40
        short-rib thoracic dysplasia 6 with or without polydactyly 1
Path 2
Term Annotations click to browse term
  disease 11416
    disease of anatomical entity 11089
      musculoskeletal system disease 4581
        connective tissue disease 3307
          bone disease 2862
            bone development disease 1188
              osteochondrodysplasia 399
                asphyxiating thoracic dystrophy 40
                  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.