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
Accession: DOID:0110097
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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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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 PMID:24009529 PMID:24698627 PMID:25640679 PMID:25741868 PMID:26216056 PMID:26359340 PMID:26766544 PMID:26968735 PMID:27058611 PMID:28041643 PMID:28288023 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28724397 PMID:29068549 PMID:29111861 PMID:29688594 PMID:29758562 PMID:30773290 PMID:31047384 PMID:31054281 PMID:31630094 PMID:31736247 PMID:31980526 PMID:32037395 PMID:32531858 PMID:32860008 PMID:32901917 PMID:33532864 More...
NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
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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
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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
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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
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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
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