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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:lysosomal storage disease
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Accession:EFO:MONDO:0002561 term browser browse the term
Definition:A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.
Synonyms:exact_synonym: disorder of lysosomal enzyme;   disorder of lysosomal enzymes;   inborn lysosomal enzyme disorder;   lysosomal disease;   lysosomal disorder;   lysosomal storage disorder;   lysosomal storage metabolism disorder;   lysosome disease;   lysosome disorder
 related_synonym: phospholipidosis
 alt_id: MONDO:0002561
 xref: DOID:3211;   GARD:18884;   MEDGEN:43098;   MESH:D016464;   NANDO:1200055;   NANDO:2100165;   NCI:C61250;   ORDO:68366;   SCTID:23585005;   SCTID:28821000119102;   UMLS:C0085078;   icd11.foundation:656131403
 external_ontology: disease_has_basis_in_dysfunction_of EFO:GO:0005764


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          metabolic disease 0
            inborn errors of metabolism 0
              lysosomal storage disease 0
                disorder of sialic acid metabolism + 0
                glycoprotein storage disease 0
                glycoproteinosis + 0
                hereditary spastic paraplegia 48 0
                inborn disorder of lysosomal amino acid transport + 0
                late infantile neuronal ceroid lipofuscinosis + 0
                lysosomal acid phosphatase deficiency 0
                lysosomal glycogen storage disease + 0
                lysosomal lipid storage disorder + 0
                mucopolysaccharidosis + 0
                pycnodysostosis 0
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