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Bilingual Ontology of Alzheimer's Disease and Related Diseases
| Preferred Name | Gaucher Disease | |
| Synonyms |
GAUCHER DIS GLUCOCEREBROSIDASE DEFIC DIS GLUCOSYLCERAMIDE BETA GLUCOSIDASE DEFIC DIS Kerasin lipoidosis 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 Chronic non-neuropathic Gaucher's disease Glucosylceramide Beta-Glucosidase Deficiency Disease HISTIOCYTOSIS, LIPID, KERASIN TYPE Gaucher splenomegaly Kerasin histiocytosis Glucosyl cerebroside lipidosis lipidosis; cerebroside Gaucher's disease adult Gaucher's disease Cerebroside Lipidosis Syndrome Gauchers Disease ANEMIA, SPLENIC, FAMILIAL Gaucher syndrome GAUCHERS DIS Acid beta-Glucosidase Deficiency Glucocerebrosidase Deficiency Disease Glucosylceramidase deficiency lipoid histiocytosis (kerasin type) Acid beta-Glucosidase Deficiency Disease Glucosylceram b-glucosidas def |
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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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GAUCHER DIS GLUCOCEREBROSIDASE DEFIC DIS GLUCOSYLCERAMIDE BETA GLUCOSIDASE DEFIC DIS Kerasin lipoidosis 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 Chronic non-neuropathic Gaucher's disease Glucosylceramide Beta-Glucosidase Deficiency Disease HISTIOCYTOSIS, LIPID, KERASIN TYPE Gaucher splenomegaly Kerasin histiocytosis Glucosyl cerebroside lipidosis lipidosis; cerebroside Gaucher's disease adult Gaucher's disease Cerebroside Lipidosis Syndrome Gauchers Disease ANEMIA, SPLENIC, FAMILIAL Gaucher syndrome GAUCHERS DIS Acid beta-Glucosidase Deficiency Glucocerebrosidase Deficiency Disease Glucosylceramidase deficiency lipoid histiocytosis (kerasin type) Acid beta-Glucosidase Deficiency Disease Glucosylceram b-glucosidas def
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| 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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| hiddenLabel |
GaucherDisease
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| prefixIRI |
OntoAD:C0017205
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| prefLabel |
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 |
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