loading...| Preferred Name |
Lysosomal Storage Disease |
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| Synonyms |
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| Definitions |
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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| ID |
http://purl.obolibrary.org/obo/NCIT_C61250 |
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| ALT_DEFINITION |
Disorder caused by defects in the function of the lysosomes resulting in the presence of small clear vacuoles containing phospholipids within the cytoplasm of various cells. (INHAND) |
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| code |
C61250 |
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| Contributing_Source |
CDISC CTRP NICHD |
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| 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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| Display_Name |
Lysosomal Storage Disease |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C77526 http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C120531 http://purl.obolibrary.org/obo/NCIT_C116977 http://purl.obolibrary.org/obo/NCIT_C118168 |
|
| label |
Lysosomal Storage Disease |
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| Legacy Concept Name |
Lysosomal_Storage_Disease |
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| Preferred_Name |
Lysosomal Storage Disease |
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| prefixIRI |
NCIT:C61250 |
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| prefLabel |
Lysosomal Storage Disease |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0085078 |
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| subClassOf |