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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:lysosomal storage disease with skeletal involvement
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Accession:EFO:MONDO:0800088 term browser browse the term
Synonyms:exact_synonym: dysostosis multiplex
 alt_id: MONDO:0800088
 xref: GARD:19203;   ICD9:756.9;   ORDO:93448;   SCTID:254069004;   SCTID:279081001


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Term paths to the root
Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            skeletal dysplasia 0
              lysosomal storage disease with skeletal involvement 0
                GM1 gangliosidosis type 1 0
                GNPTG-mucolipidosis 0
                Hurler syndrome 0
                Hurler-Scheie syndrome 0
                Scheie syndrome 0
                alpha-mannosidosis + 0
                aspartylglucosaminuria 0
                beta-mannosidosis 0
                free sialic acid storage disease, infantile form 0
                fucosidosis 0
                galactosialidosis 0
                mucolipidosis type II 0
                mucolipidosis type III, alpha/beta 0
                mucopolysaccharidosis type 2 + 0
                mucopolysaccharidosis type 3A 0
                mucopolysaccharidosis type 3B 0
                mucopolysaccharidosis type 3C 0
                mucopolysaccharidosis type 3D 0
                mucopolysaccharidosis type 4A 0
                mucopolysaccharidosis type 4B 0
                mucopolysaccharidosis type 6 + 0
                mucopolysaccharidosis type 7 0
                mucopolysaccharidosis-plus syndrome 0
                mucosulfatidosis 0
                sialidosis type 2 + 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          musculoskeletal system disease 0
            skeletal system disease 0
              bone disease 0
                skeletal dysplasia 0
                  lysosomal storage disease with skeletal involvement 0
                    GM1 gangliosidosis type 1 0
                    GNPTG-mucolipidosis 0
                    Hurler syndrome 0
                    Hurler-Scheie syndrome 0
                    Scheie syndrome 0
                    alpha-mannosidosis + 0
                    aspartylglucosaminuria 0
                    beta-mannosidosis 0
                    free sialic acid storage disease, infantile form 0
                    fucosidosis 0
                    galactosialidosis 0
                    mucolipidosis type II 0
                    mucolipidosis type III, alpha/beta 0
                    mucopolysaccharidosis type 2 + 0
                    mucopolysaccharidosis type 3A 0
                    mucopolysaccharidosis type 3B 0
                    mucopolysaccharidosis type 3C 0
                    mucopolysaccharidosis type 3D 0
                    mucopolysaccharidosis type 4A 0
                    mucopolysaccharidosis type 4B 0
                    mucopolysaccharidosis type 6 + 0
                    mucopolysaccharidosis type 7 0
                    mucopolysaccharidosis-plus syndrome 0
                    mucosulfatidosis 0
                    sialidosis type 2 + 0
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