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
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MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps33a VPS33A core subunit of CORVET and HOPS complexes JBrowse link 12 38,459,816 38,482,903 RGD:8554872
RGD:7240710

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Path 1
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  disease 14875
    syndrome 4220
      MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME 1
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          inherited metabolic disorder 1808
            carbohydrate metabolic disorder 302
              mucopolysaccharidosis 25
                MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.