| D005260 |
Female |
|
Females |
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| D005776 |
Gaucher Disease |
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 involvement. |
Cerebroside Lipidosis Syndrome,Gaucher Disease Type 1,Gaucher Disease Type 2,Glucocerebrosidase Deficiency Disease,Glucosylceramide Beta-Glucosidase Deficiency Disease,Neuronopathic Gaucher Disease,Acid beta-Glucosidase Deficiency,Acid beta-Glucosidase Deficiency Disease,Acute Neuronopathic Gaucher Disease,Chronic Gaucher Disease,GBA Deficiency,Gaucher Disease Type 3,Gaucher Disease, Acute Neuronopathic,Gaucher Disease, Acute Neuronopathic Type,Gaucher Disease, Chronic,Gaucher Disease, Chronic Neuronopathic Type,Gaucher Disease, Infantile,Gaucher Disease, Infantile Cerebral,Gaucher Disease, Juvenile,Gaucher Disease, Juvenile and Adult, Cerebral,Gaucher Disease, Neuronopathic,Gaucher Disease, Non-Neuronopathic Form,Gaucher Disease, Noncerebral Juvenile,Gaucher Disease, Subacute Neuronopathic Form,Gaucher Disease, Subacute Neuronopathic Type,Gaucher Disease, Type 1,Gaucher Disease, Type 2,Gaucher Disease, Type 3,Gaucher Disease, Type I,Gaucher Disease, Type II,Gaucher Disease, Type III,Gaucher Splenomegaly,Gaucher Syndrome,Gaucher's Disease,Gauchers Disease,Glucocerebrosidase Deficiency,Glucocerebrosidosis,Glucosyl Cerebroside Lipidosis,Glucosylceramidase Deficiency,Glucosylceramide Beta-Glucosidase Deficiency,Glucosylceramide Lipidosis,Infantile Gaucher Disease,Kerasin Histiocytosis,Kerasin Lipoidosis,Kerasin thesaurismosis,Lipoid Histiocytosis (Kerasin Type),Non-Neuronopathic Gaucher Disease,Subacute Neuronopathic Gaucher Disease,Type 1 Gaucher Disease,Type 2 Gaucher Disease,Type 3 Gaucher Disease,Cerebroside Lipidoses, Glucosyl,Cerebroside Lipidosis Syndromes,Cerebroside Lipidosis, Glucosyl,Deficiencies, GBA,Deficiencies, Glucocerebrosidase,Deficiency Disease, Glucocerebrosidase,Deficiency Diseases, Glucocerebrosidase,Deficiency, GBA,Deficiency, Glucocerebrosidase,Disease, Chronic Gaucher,Disease, Gaucher,Disease, Gaucher's,Disease, Gauchers,Disease, Glucocerebrosidase Deficiency,Disease, Infantile Gaucher,Disease, Juvenile Gaucher,Disease, Neuronopathic Gaucher,Disease, Non-Neuronopathic Gaucher,Diseases, Gauchers,Diseases, Glucocerebrosidase Deficiency,GBA Deficiencies,Gaucher Disease, Non Neuronopathic Form,Gaucher Disease, Non-Neuronopathic,Gauchers Diseases,Glucocerebrosidase Deficiencies,Glucocerebrosidase Deficiency Diseases,Glucocerebrosidoses,Glucosyl Cerebroside Lipidoses,Glucosylceramide Lipidoses,Histiocytoses, Kerasin,Histiocytoses, Lipoid (Kerasin Type),Histiocytosis, Kerasin,Histiocytosis, Lipoid (Kerasin Type),Juvenile Gaucher Disease,Kerasin Histiocytoses,Kerasin Lipoidoses,Kerasin thesaurismoses,Lipidoses, Glucosyl Cerebroside,Lipidoses, Glucosylceramide,Lipidosis Syndrome, Cerebroside,Lipidosis Syndromes, Cerebroside,Lipidosis, Glucosyl Cerebroside,Lipidosis, Glucosylceramide,Lipoid Histiocytoses (Kerasin Type),Lipoidoses, Kerasin,Lipoidosis, Kerasin,Non Neuronopathic Gaucher Disease,Splenomegaly, Gaucher,Syndrome, Cerebroside Lipidosis,Syndrome, Gaucher,Syndromes, Cerebroside Lipidosis,thesaurismoses, Kerasin,thesaurismosis, Kerasin |
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| D005962 |
Glucosylceramidase |
A glycosidase that hydrolyzes a glucosylceramide to yield free ceramide plus glucose. Deficiency of this enzyme leads to abnormally high concentrations of glucosylceramide in the brain in GAUCHER DISEASE. EC 3.2.1.45. |
Glucocerebrosidase,Acid beta-Glucosidase,Glucocerebroside beta-Glucosidase,Glucosyl Ceramidase,Glucosylceramide beta-Glucosidase,Glucosylsphingosine Glucosyl Hydrolase,beta-Glucocerebrosidase,Acid beta Glucosidase,Ceramidase, Glucosyl,Glucocerebroside beta Glucosidase,Glucosyl Hydrolase, Glucosylsphingosine,Glucosylceramide beta Glucosidase,Hydrolase, Glucosylsphingosine Glucosyl,beta Glucocerebrosidase,beta-Glucosidase, Acid,beta-Glucosidase, Glucocerebroside,beta-Glucosidase, Glucosylceramide |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000328 |
Adult |
A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. |
Adults |
|
| D016896 |
Treatment Outcome |
Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series. |
Rehabilitation Outcome,Treatment Effectiveness,Clinical Effectiveness,Clinical Efficacy,Patient-Relevant Outcome,Treatment Efficacy,Effectiveness, Clinical,Effectiveness, Treatment,Efficacy, Clinical,Efficacy, Treatment,Outcome, Patient-Relevant,Outcome, Rehabilitation,Outcome, Treatment,Outcomes, Patient-Relevant,Patient Relevant Outcome,Patient-Relevant Outcomes |
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| D054198 |
Precursor Cell Lymphoblastic Leukemia-Lymphoma |
A neoplasm characterized by abnormalities of the lymphoid cell precursors leading to excessive lymphoblasts in the marrow and other organs. It is the most common cancer in children and accounts for the vast majority of all childhood leukemias. |
Leukemia, Lymphoblastic,Leukemia, Lymphoid, Acute,Lymphoblastic Leukemia,Lymphoblastic Lymphoma,Lymphocytic Leukemia, Acute,Lymphoma, Lymphoblastic,ALL, Childhood,Acute Lymphoid Leukemia,Leukemia, Acute Lymphoblastic,Leukemia, Lymphoblastic, Acute,Leukemia, Lymphoblastic, Acute, L1,Leukemia, Lymphoblastic, Acute, L2,Leukemia, Lymphoblastic, Acute, Philadelphia-Positive,Leukemia, Lymphocytic, Acute,Leukemia, Lymphocytic, Acute, L1,Leukemia, Lymphocytic, Acute, L2,Lymphoblastic Leukemia, Acute,Lymphoblastic Leukemia, Acute, Adult,Lymphoblastic Leukemia, Acute, Childhood,Lymphoblastic Leukemia, Acute, L1,Lymphoblastic Leukemia, Acute, L2,Lymphocytic Leukemia, L1,Lymphocytic Leukemia, L2,Acute Lymphoblastic Leukemia,Acute Lymphocytic Leukemia,Childhood ALL,L1 Lymphocytic Leukemia,L2 Lymphocytic Leukemia,Leukemia, Acute Lymphocytic,Leukemia, Acute Lymphoid,Leukemia, L1 Lymphocytic,Leukemia, L2 Lymphocytic,Lymphoid Leukemia, Acute,Precursor Cell Lymphoblastic Leukemia Lymphoma |
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| D056947 |
Enzyme Replacement Therapy |
Therapeutic replacement or supplementation of defective or missing enzymes to alleviate the effects of enzyme deficiency (e.g., GLUCOSYLCERAMIDASE replacement for GAUCHER DISEASE). |
Enzyme Replacement Therapies,Replacement Therapies, Enzyme,Replacement Therapy, Enzyme,Therapies, Enzyme Replacement,Therapy, Enzyme Replacement |
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| D060828 |
Induction Chemotherapy |
Initial drug treatment designed to bring about REMISSION INDUCTION. It is typically a short-term and high-dose drug treatment that is followed by CONSOLIDATION CHEMOTHERAPY and then MAINTENANCE CHEMOTHERAPY. |
Chemotherapies, Induction,Chemotherapy, Induction,Induction Chemotherapies |
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