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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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 5;   short rib-polydactyly syndrome type V
 narrow_synonym: SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC;   short-rib thoracic dysplasia 7 with polydactyly, digenic;   short-rib thoracic dysplasia 7 without polydactyly
 broad_synonym: WDR35-related disorder
 primary_id: OMIM:614091
For additional species annotation, visit the Alliance of Genome Resources.


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short-rib thoracic dysplasia 7 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Short rib polydactyly syndrome 5 ClinVar NCBI chr 6:34,071,428...34,091,048
Ensembl chr 6:34,071,428...34,091,048
JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by OMIM:614091
ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY
ClinVar Annotator: match by term: Short rib polydactyly syndrome 5
OMIM
ClinVar
PMID:17935248, PMID:21473986, PMID:22486404, PMID:24033266, PMID:25741868, PMID:25908617, PMID:25914204, PMID:27158779, PMID:28332779, PMID:28400947, PMID:28492532, PMID:29068549 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      asphyxiating thoracic dystrophy 42
        short-rib thoracic dysplasia 7 with or without polydactyly 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              osteochondrodysplasia 446
                asphyxiating thoracic dystrophy 42
                  short-rib thoracic dysplasia 7 with or without polydactyly 2
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.