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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Vps33a VPS33A CORVET/HOPS core subunit JBrowse link 12 38,459,816 38,482,903 RGD:8554872
RGD:11554173
RGD:7240710

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Path 1
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  disease 14759
    syndrome 4210
      MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME 1
Path 2
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          inherited metabolic disorder 1807
            carbohydrate metabolic disorder 299
              mucopolysaccharidosis 25
                MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME 1
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