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ONTOLOGY REPORT - ANNOTATIONS


Term:short-rib thoracic dysplasia 7 with or without polydactyly
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Accession:DOID:0110090 term browser browse the term
Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. (DO)
Synonyms:exact_synonym: SHORT RIB POLYDACTYLY SYNDROME 5;   SRPS5;   SRTD7;   Short Rib-Polydactyly Syndrome, Type V;   short rib-polydactyly syndrom type V
 narrow_synonym: SHORT-RIB THORACIC DYSPLASIA 7 WITH POLYDACTYLY, DIGENIC;   SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY;   SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC
 broad_synonym: WDR35-RELATED DISORDER
 primary_id: OMIM:614091
 alt_id: RDO:9001071
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short-rib thoracic dysplasia 7 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      asphyxiating thoracic dystrophy 41
        short-rib thoracic dysplasia 7 with or without polydactyly 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      musculoskeletal system disease 5304
        connective tissue disease 3934
          bone disease 3431
            bone development disease 1243
              osteochondrodysplasia 415
                asphyxiating thoracic dystrophy 41
                  short-rib thoracic dysplasia 7 with or without polydactyly 1
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.