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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 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;   SRPS type II;   SRPS2A;   SRTD6;   Short Rib Polydactyly Syndrome, Type II;   Short Rib-Polydactyly Syndrome, Type IIA;   polydactyly with neonatal chondrodystrophy, type 2;   polydactyly with neonatal chondrodystrophy, type II
 primary_id: OMIM:263520
 xref: NCI:C122654
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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY OMIM
ClinVar
PMID:25741868 PMID:28089114 PMID:28492532 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      asphyxiating thoracic dystrophy 43
        short-rib thoracic dysplasia 6 with or without polydactyly 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        connective tissue disease 3651
          bone disease 2997
            bone development disease 1326
              osteochondrodysplasia 447
                asphyxiating thoracic dystrophy 43
                  short-rib thoracic dysplasia 6 with or without polydactyly 1
paths to the root