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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 9 with or without polydactyly
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Accession:DOID:0110097 term browser browse the term
Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: MZSDS;   Mainzer-Saldino chondrodysplasia;   Mainzer-Saldino disease;   Mainzer-Saldino syndrome;   SRTD9;   conorenal dysplasia;   conorenal syndrome;   renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia;   short-rib thoracic dysplasia 9
 related_synonym: short-rib thoracic dysplasia without polydactyly
 primary_id: MESH:C535463
 alt_id: OMIM:266920
For additional species annotation, visit the Alliance of Genome Resources.


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short-rib thoracic dysplasia 9 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by OMIM:266920
ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly
OMIM
ClinVar
PMID:22503633, PMID:23418020, PMID:24009529, PMID:24698627, PMID:25741868, PMID:26216056, PMID:26359340, PMID:26766544, PMID:26968735, PMID:27058611, PMID:28041643, PMID:28288023, PMID:28492532, PMID:28559085, PMID:28724397, PMID:28991257, PMID:29068549, PMID:29688594, PMID:32860008 NCBI chr10:14,373,668...14,461,509
Ensembl chr10:14,373,679...14,461,160
JBrowse link
G Ptx4 pentraxin 4 ISO ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia ClinVar PMID:28492532, PMID:29688594 NCBI chr10:14,481,044...14,486,277
Ensembl chr10:14,481,393...14,485,916
JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia ClinVar PMID:28492532, PMID:29688594 NCBI chr10:14,461,581...14,476,812
Ensembl chr10:14,461,839...14,476,785
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 9 with or without polydactyly 3
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            movement disease 1158
              Dyskinesias 869
                Ataxia 395
                  Spinocerebellar Ataxias 283
                    cerebellar ataxia 247
                      short-rib thoracic dysplasia 9 with or without polydactyly 3
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.