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loading...| Preferred Name |
Lysosomal_Enzyme_Disorder |
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| Synonyms |
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| ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#Lysosomal_Enzyme_Disorder |
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| ID |
C61250 |
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| NCI_Definition |
A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include Gaucher disease, Niemann-Pick disease, Wolman disease, and Fabry disease. |
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| NCI_PT |
Lysosomal Storage Disease |
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| NICHD_Definition |
_ |
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| prefixIRI |
Lysosomal_Enzyme_Disorder |
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| prefLabel |
Lysosomal_Enzyme_Disorder |
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| Subset_Association1 |
NICHD Pediatric Terminology |
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| Subset_Association2 |
Neonatal Research Network Terminology |
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| SYN |
Disorder of Lysosomal Enzymes |
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| subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Congenital_Metabolic_Disorder |