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: 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
 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 14920
    syndrome 4714
      asphyxiating thoracic dystrophy 44
        short-rib thoracic dysplasia 7 with or without polydactyly 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      musculoskeletal system disease 3997
        connective tissue disease 2585
          bone disease 2125
            bone development disease 895
              osteochondrodysplasia 406
                asphyxiating thoracic dystrophy 44
                  short-rib thoracic dysplasia 7 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.