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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;   RDO:9001458
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: Mucopolysaccharidosis-plus syndrome ClinVar
OMIM
PMID:27547915, PMID:28013294 NCBI chr12:38,459,816...38,482,903
Ensembl chr12:38,459,832...38,484,512
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          inherited metabolic disorder 2231
            carbohydrate metabolic disorder 387
              mucopolysaccharidosis 29
                MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME 1
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.