ONKI3 | Medical Subject Headings


Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Genetic Diseases, X-Linked ∟ Fabry Disease 25 coordinate concepts ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Ichthyosis, X-Linked \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases \| ∟ Gangliosidoses \| ∟ Gaucher Disease \| ∟ Leukodystrophy, Globoid Cell \| ∟ Niemann-Pick Diseases \| ∟ Sea-Blue Histiocyte Syndrome \| ∟ Sulfatidosis Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Lysosomal Storage Diseases, Nervous System ∟ Sphingolipidoses ∟ Fabry Disease 25 coordinate concepts ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Ichthyosis, X-Linked \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases \| ∟ Gangliosidoses \| ∟ Gaucher Disease \| ∟ Leukodystrophy, Globoid Cell \| ∟ Niemann-Pick Diseases \| ∟ Sea-Blue Histiocyte Syndrome \| ∟ Sulfatidosis Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Lipidoses ∟ Sphingolipidoses ∟ Fabry Disease 25 coordinate concepts ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Ichthyosis, X-Linked \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases \| ∟ Gangliosidoses \| ∟ Gaucher Disease \| ∟ Leukodystrophy, Globoid Cell \| ∟ Niemann-Pick Diseases \| ∟ Sea-Blue Histiocyte Syndrome \| ∟ Sulfatidosis Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Lysosomal Storage Diseases ∟ Lysosomal Storage Diseases, Nervous System ∟ Sphingolipidoses ∟ Fabry Disease 25 coordinate concepts ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Ichthyosis, X-Linked \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases \| ∟ Gangliosidoses \| ∟ Gaucher Disease \| ∟ Leukodystrophy, Globoid Cell \| ∟ Niemann-Pick Diseases \| ∟ Sea-Blue Histiocyte Syndrome \| ∟ Sulfatidosis Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Lysosomal Storage Diseases, Nervous System ∟ Sphingolipidoses ∟ Fabry Disease 25 coordinate concepts ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Ichthyosis, X-Linked \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases \| ∟ Gangliosidoses \| ∟ Gaucher Disease \| ∟ Leukodystrophy, Globoid Cell \| ∟ Niemann-Pick Diseases \| ∟ Sea-Blue Histiocyte Syndrome \| ∟ Sulfatidosis Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Lysosomal Storage Diseases, Nervous System ∟ Sphingolipidoses ∟ Fabry Disease 25 coordinate concepts ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Ichthyosis, X-Linked \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases \| ∟ Gangliosidoses \| ∟ Gaucher Disease \| ∟ Leukodystrophy, Globoid Cell \| ∟ Niemann-Pick Diseases \| ∟ Sea-Blue Histiocyte Syndrome \| ∟ Sulfatidosis Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Lipid Metabolism Disorders ∟ Lipidoses ∟ Sphingolipidoses ∟ Fabry Disease 25 coordinate concepts ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Ichthyosis, X-Linked \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases \| ∟ Gangliosidoses \| ∟ Gaucher Disease \| ∟ Leukodystrophy, Globoid Cell \| ∟ Niemann-Pick Diseases \| ∟ Sea-Blue Histiocyte Syndrome \| ∟ Sulfatidosis Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Lysosomal Storage Diseases, Nervous System ∟ Sphingolipidoses ∟ Fabry Disease 25 coordinate concepts ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Ichthyosis, X-Linked \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases \| ∟ Gangliosidoses \| ∟ Gaucher Disease \| ∟ Leukodystrophy, Globoid Cell \| ∟ Niemann-Pick Diseases \| ∟ Sea-Blue Histiocyte Syndrome \| ∟ Sulfatidosis Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Lipidoses ∟ Sphingolipidoses ∟ Fabry Disease 25 coordinate concepts ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Ichthyosis, X-Linked \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases \| ∟ Gangliosidoses \| ∟ Gaucher Disease \| ∟ Leukodystrophy, Globoid Cell \| ∟ Niemann-Pick Diseases \| ∟ Sea-Blue Histiocyte Syndrome \| ∟ Sulfatidosis Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lysosomal Storage Diseases ∟ Lysosomal Storage Diseases, Nervous System ∟ Sphingolipidoses ∟ Fabry Disease 25 coordinate concepts ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Ichthyosis, X-Linked \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases \| ∟ Gangliosidoses \| ∟ Gaucher Disease \| ∟ Leukodystrophy, Globoid Cell \| ∟ Niemann-Pick Diseases \| ∟ Sea-Blue Histiocyte Syndrome \| ∟ Sulfatidosis X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Genetic Diseases, X-Linked ∟ Fabry Disease Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Lysosomal Storage Diseases, Nervous System ∟ Sphingolipidoses ∟ Fabry Disease Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Lipidoses ∟ Sphingolipidoses ∟ Fabry Disease Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Lysosomal Storage Diseases ∟ Lysosomal Storage Diseases, Nervous System ∟ Sphingolipidoses ∟ Fabry Disease Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Lysosomal Storage Diseases, Nervous System ∟ Sphingolipidoses ∟ Fabry Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Lysosomal Storage Diseases, Nervous System ∟ Sphingolipidoses ∟ Fabry Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Lipid Metabolism Disorders ∟ Lipidoses ∟ Sphingolipidoses ∟ Fabry Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Lysosomal Storage Diseases, Nervous System ∟ Sphingolipidoses ∟ Fabry Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Lipidoses ∟ Sphingolipidoses ∟ Fabry Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lysosomal Storage Diseases ∟ Lysosomal Storage Diseases, Nervous System ∟ Sphingolipidoses ∟ Fabry Disease Genetic Diseases, X-Linked > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Sphingolipidoses > Lysosomal Storage Diseases, Nervous System > Brain Diseases, Metabolic, Inborn > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Sphingolipidoses > Lipidoses > Lipid Metabolism, Inborn Errors > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Sphingolipidoses > Lysosomal Storage Diseases, Nervous System > Lysosomal Storage Diseases > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Sphingolipidoses > Lysosomal Storage Diseases, Nervous System > Brain Diseases, Metabolic, Inborn > Brain Diseases, Metabolic > Brain Diseases > Central Nervous System Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Sphingolipidoses > Lysosomal Storage Diseases, Nervous System > Brain Diseases, Metabolic, Inborn > Brain Diseases, Metabolic > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Sphingolipidoses > Lipidoses > Lipid Metabolism Disorders > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Sphingolipidoses > Lysosomal Storage Diseases, Nervous System > Brain Diseases, Metabolic, Inborn > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Sphingolipidoses > Lipidoses > Lipid Metabolism, Inborn Errors > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Sphingolipidoses > Lysosomal Storage Diseases, Nervous System > Lysosomal Storage Diseases > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
Annotation:	do not confuse entry term ANDERSON-FABRY DISEASE with ANDERSEN'S DISEASE X
History note:	Angiokeratoma (1966-1972)X
historyNote*:	99(73) X
publicMeSHNote*:	99; see FABRY'S DISEASE 1992-98; see ANGIOKERATOMA CORPORIS DIFFUSUM 1973-91; for FABRY'S DISEASE see ANGIOKERATOMA CORPORIS DIFFUSUM 1974-91 X
Scope note:	An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. X
activeMeSHYear*:	2007X
dateCreated*:	1999-01-01X
dateEstablished*:	1973-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	NLMX
Related term:	Ceramides X
Type:	Concept X
Coordinate terms:	Androgen-Insensitivity Syndrome \| Choroideremia \| Dyskeratosis Congenita \| Ectodermal Dysplasia 1, Anhidrotic \| Focal Dermal Hypoplasia \| Glycogen Storage Disease Type IIb \| Glycogen Storage Disease Type VIII \| Granulomatous Disease, Chronic \| Hemophilia B \| Hyper-IgM Immunodeficiency Syndrome, Type 1 \| Hypophosphatemic Rickets, X-Linked Dominant \| Ichthyosis, X-Linked \| Mental Retardation, X-Linked \| Muscular Dystrophy, Duchenne \| Muscular Dystrophy, Emery-Dreifuss \| Oculocerebrorenal Syndrome \| Pelizaeus-Merzbacher Disease \| Wiskott-Aldrich Syndrome \| X-Linked Combined Immunodeficiency Diseases \| Gangliosidoses \| Gaucher Disease \| Leukodystrophy, Globoid Cell \| Niemann-Pick Diseases \| Sea-Blue Histiocyte Syndrome \| Sulfatidosis X
URI:	X
Labels and equivalent concepts:	Fabryn tauti (fi) Fabrys sjukdom (sv) Fabry's Disease (en, replaced) Angiokeratoma Corporis Diffusum (en, replaced) Anderson-Fabry Disease (en, replaced) alpha-Galactosidase A Deficiency Disease (en, replaced) Angiokeratoma corporis diffusa (la-FI, replaced) Morbus Fabry (la-FI, replaced) X
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