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PMO Precision Medicine Ontology
Last uploaded:
December 16, 2020
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| Preferred Name | Gaucher Disease | |
| Synonyms |
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| Definitions |
A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00038564 |
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| Database_Cross_Reference |
MEDLINEPLUS:1523 SNOMEDCT_US:180485001 MTH:NOCODE MDR:10018048 LNC:MTHU036947 SNMI:D6-74100 MTHICD9:272.7 NCI_NICHD:C61268 DXP:U000704 SNM:D-1430 MEDCIN:315532 CHV:0000005396 SNOMEDCT_US:190794006 ICD10CM:E75.22 DO:DOID:1926 SNOMEDCT_US:2859005 RCD:X40VF LCH:U001934 SNMI:D6-74110 CSP:1849-8920 MSH:D005776 RCD:C3271 DXP:NOCODE MEDCIN:30133 LNC:LP113916-3 LNC:LA14039-4 SNOMEDCT_US:62201009 NCI:C61268 LCH_NW:sh85053526 MDR:10018446 NDFRT:N0000001322
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| Definition |
A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
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| label |
Gaucher Disease
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| MCID |
MC00005473
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| PMOID |
PMO:00038564
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| prefixIRI |
pmo:PMO_00038564
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| prefLabel |
Gaucher Disease
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| Synonym |
Deficiency, Glucocerebrosidase glucosylceramide lipidosis disease gaucher Lipoidosis, Kerasin Glucocerebrosidase Deficiency Disease Splenomegaly, Gaucher Diseases, Gauchers Glucosyl Cerebroside Lipidosis Kerasin thesaurismosis (disorder) Glucosylceramide beta-glucosidase deficiency (disorder) disease gaucher's gaucher disease Glucosylceramide beta-glucosidase deficiency Cerebroside Lipidoses, Glucosyl Glucocerebrosidosis Gaucher's disease (disorder) Kerasin Lipoidoses Chronic non-neuropathic Gaucher disease Gauchers Disease ACID BETA GLUCOSIDASE DEFIC DIS Disease, Gaucher Kerasin thesaurismosis Glucocerebrosidase Deficiencies Glucosyl Cerebroside Lipidoses Kerasin Histiocytosis Deficiencies, Glucocerebrosidase Histiocytosis, Kerasin Histiocytosis, Lipoid (Kerasin Type) Gaucher Splenomegaly Glucosylceramide Lipidosis Gaucher disease type I glucosylceramidase deficiency GLUCOSYL CEREBROSIDE LIPIDOSIS Gaucher's disease Lipoid Histiocytoses (Kerasin Type) Glucosylceram b-glucosidas def lipoid histiocytosis Cerebroside Lipidosis, Glucosyl Gaucher disease type I (diagnosis) Kerasin histiocytosis Gaucher's disease, NOS Acid beta-Glucosidase Deficiency Chronic non-neuropathic Gaucher's disease (disorder) Disease, Gauchers Cerebroside Lipidosis Syndrome disease gauchers Disease, Glucocerebrosidase Deficiency Lipidoses, Glucosylceramide Gaucher's disease, type I Glucocerebrosidase def type I Cerebroside lipidosis syndrome Acid beta-Glucosidase Deficiency Disease Deficiency Disease, Glucocerebrosidase Gaucher Disease [Disease/Finding] GAUCHER DIS Gaucher's Disease gaucher's disease Glucocerebrosidase Deficiency Glucosylceramide Lipidoses Lipidosis, Glucosyl Cerebroside Lipidoses, Glucosyl Cerebroside Lipoidoses, Kerasin GAUCHER DISEASE GAUCHERS DIS Chronic non-neuropathic Gaucher's disease Glucocerebrosidase Deficiency Diseases Gaucher disease (diagnosis) Gaucher's disease [Ambiguous] Glucocerebrosidase deficiency Glucosylceramide Beta-Glucosidase Deficiency Disease Cerebroside Lipidosis Syndromes HISTIOCYTOSIS, LIPID, KERASIN TYPE Adult Gaucher disease Histiocytoses, Kerasin Glucocerebrosidase deficiency type I Gaucher splenomegaly Kerasin thesaurismoses Lipidosis Syndrome, Cerebroside Diseases, Glucocerebrosidase Deficiency Glucosyl cerebroside lipidosis Gaucher Syndrome GLUCOCEREBROSIDASE DEFIC DIS Kerasin Histiocytoses Lipidosis, Glucosylceramide LIPIDOSIS, CEREBROSIDE Syndrome, Gaucher Lipoid Histiocytosis (Kerasin Type) thesaurismoses, Kerasin Deficiency Diseases, Glucocerebrosidase glucocerebrosidosis Glucosylceramidase deficiency Glucosylceramidase Deficiency kerasin thesaurismosis ANEMIA, SPLENIC, FAMILIAL Syndrome, Cerebroside Lipidosis lipoid histiocytosis (kerasin type) acid beta-glucosidase deficiency Glucocerebrosidoses Lipidosis Syndromes, Cerebroside GLUCOSYLCERAMIDE BETA GLUCOSIDASE DEFIC DIS Kerasin Lipoidosis Glucosylceramide Beta-Glucosidase Deficiency Gauchers Diseases GBA familial splenic anemia thesaurismosis, Kerasin glocucerebrosidase deficiency Kerasin lipoidosis Gaucher disease Disease, Gaucher's Gaucher syndrome Histiocytoses, Lipoid (Kerasin Type) glucosylceramide beta-glucosidase deficiency Syndromes, Cerebroside Lipidosis Chronic adult Gaucher's disease gauchers disease gaucher syndrome Glucosylceramidase deficiency, chronic type
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| Tree Number |
T9.8.4.14.8.19.5.6 T9.8.4.14.3.7.5.6 T9.11.1.2.2.4.6 T9.21.15.5.17.2.19.5.6 T9.11.1.12.3.7.5.6 T9.11.1.6.2.19.5.6 T9.11.1.12.7.5.4.6 T9.8.4.14.7.5.4.6 T9.11.1.12.8.19.5.6 T9.11.1.2.6.5.4.6
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