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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


show annotations for term's descendants           Sort by:
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 thoracic dysplasia 7 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:31,748,517...31,768,564
Ensembl chr 6:31,748,474...31,768,101 		JBrowse link
G Wdr35 WD repeat domain 35 ISO
ISS		 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 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly		 OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:17576681 PMID:17935248 PMID:21473986 PMID:22486404 More... NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      asphyxiating thoracic dystrophy 229
        short-rib thoracic dysplasia 7 with or without polydactyly 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5787
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                asphyxiating thoracic dystrophy 229
                  short-rib thoracic dysplasia 7 with or without polydactyly 2
paths to the root