Abnormality of lysosomal metabolism
Symptom Information:
Symptom ID: | HPO:0004356 | ||||
Synonyms: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of metabolism/homeostasis(HPO:0001939) Abnormality of cell physiology(HPO:0011017) Abnormality of lysosomal metabolism(HPO:0004356) MedDRA: |
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Database Frequency: | 6 / 7739 | ||||
Resource: |
All diseases associated with this symptom:
Glycogen storage disease due to acid maltase deficiency, infantile onset | (Orphanet:308552) |
Glycogen storage disease due to acid maltase deficiency, late-onset | (Orphanet:420429) |
Hurler syndrome | (Orphanet:93473) |
Hurler-Scheie syndrome | (Orphanet:93476) |
MANNOSE 6-PHOSPHATE RECEPTOR RECOGNITION DEFECT, LEBANESE TYPE | (OMIM:154570) |
Scheie syndrome | (Orphanet:93474) |