loading...| Preferred Name |
Gaucher Disease |
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| Synonyms |
déficit en glucosyl-céramidase, forme chronique GAUCHER DIS |
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| Definitions |
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological invol (source : MSH) |
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| ID |
http://doe-generated-ontology.com/OntoAD#C0017205 |
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| altLabel |
déficit en glucosyl-céramidase, forme chronique GAUCHER DIS GLUCOCEREBROSIDASE DEFIC DIS GLUCOSYLCERAMIDE BETA GLUCOSIDASE DEFIC DIS Kerasin lipoidosis Lipidose cérébroside glucosyle Glucocerebrosidosis Glucocerebrosidase def type I Kerasin thesaurismosis Adult Gaucher disease Glucocerebrosidase deficiency type I CEREBROSIDE LIPOIDOSIS GAUCHERS ADULT FORM Gaucher's disease, type I Glucocerebrosidase Deficiency ACID BETA GLUCOSIDASE DEFIC DIS Glucosylceramide beta-glucosidase deficiency glucosylceramide lipidosis Chronic adult Gaucher's disease Glucosylceramidase deficiency, chronic type glucosylcérébrosidose maladie de Gaucher de type I Chronic non-neuropathic Gaucher's disease Glucosylceramide Beta-Glucosidase Deficiency Disease HISTIOCYTOSIS, LIPID, KERASIN TYPE déficit en glucocérébrosidase Gaucher splenomegaly Kerasin histiocytosis Glucosyl cerebroside lipidosis maladie de Gaucher, forme chronique non neurologique juvénile lipidosis; cerebroside Gaucher's disease adult Gaucher's disease Cerebroside Lipidosis Syndrome Déficit en bêta-glucocérébrosidase Gauchers Disease ANEMIA, SPLENIC, FAMILIAL Gaucher syndrome GAUCHERS DIS Acid beta-Glucosidase Deficiency Glucocerebrosidase Deficiency Disease lipidose à cérébrosides Sphingolipidose héréditaire de Gaucher Glucosylceramidase deficiency lipoïdose à cérébrosides lipoid histiocytosis (kerasin type) maladie de Gaucher, forme chronique non neurologique de l'adulte Acid beta-Glucosidase Deficiency Disease Glucosylceram b-glucosidas def |
|
| definition |
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological invol (source : MSH) |
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| has_finding_site | ||
| has_severity | ||
| hiddenLabel |
GaucherDisease MaladieDeGaucher |
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| prefixIRI |
OntoAD:C0017205 |
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| prefLabel |
Maladie de Gaucher Gaucher Disease |
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| subClassOf |
http://doe-generated-ontology.com/OntoAD#C1263722 http://doe-generated-ontology.com/OntoAD#C1290882 http://doe-generated-ontology.com/OntoAD#C0085078 |