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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:Mucopolysaccharidosis-Plus Syndrome
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Accession:DOID:9006933 term browser browse the term
Definition:An autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases. Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. (OMIM)
Synonyms:exact_synonym: MPSPS
 primary_id: OMIM:617303


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Mucopolysaccharidosis-Plus Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps33a VPS33A core subunit of CORVET and HOPS complexes ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mucopolysaccharidosis-plus syndrome		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27547915 PMID:28013294 PMID:28492532 PMID:31070736 More... NCBI chr12:33,024,596...33,051,399
Ensembl chr12:33,024,650...33,051,393 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Mucopolysaccharidosis-Plus Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          inherited metabolic disorder 6256
            carbohydrate metabolic disorder 3309
              mucopolysaccharidosis 44
                Mucopolysaccharidosis-Plus Syndrome 1
paths to the root