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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 term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 More... NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
JBrowse link
G Ptx4 pentraxin 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,140,028...14,146,163
Ensembl chr10:14,140,304...14,144,846
JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,120,491...14,135,729
Ensembl chr10:14,120,818...14,135,698
JBrowse link
G Tmem204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:25741868 NCBI chr10:14,076,518...14,104,849
Ensembl chr10:14,076,519...14,101,920
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:25741868 PMID:33532864 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      asphyxiating thoracic dystrophy 124
        short-rib thoracic dysplasia 9 with or without polydactyly 5
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        central nervous system disease 11274
          brain disease 10560
            movement disease 1694
              Dyskinesias 1347
                Ataxia 540
                  Spinocerebellar Ataxias 353
                    cerebellar ataxia 278
                      short-rib thoracic dysplasia 9 with or without polydactyly 5
paths to the root