| D007153 |
Immunologic Deficiency Syndromes |
Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. |
Antibody Deficiency Syndrome,Deficiency Syndrome, Immunologic,Deficiency Syndromes, Antibody,Deficiency Syndromes, Immunologic,Immunologic Deficiency Syndrome,Immunological Deficiency Syndromes,Antibody Deficiency Syndromes,Deficiency Syndrome, Antibody,Deficiency Syndrome, Immunological,Deficiency Syndromes, Immunological,Immunological Deficiency Syndrome,Syndrome, Antibody Deficiency,Syndrome, Immunologic Deficiency,Syndrome, Immunological Deficiency,Syndromes, Antibody Deficiency,Syndromes, Immunologic Deficiency,Syndromes, Immunological Deficiency |
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| D007962 |
Leukocytes |
White blood cells. These include granular leukocytes (BASOPHILS; EOSINOPHILS; and NEUTROPHILS) as well as non-granular leukocytes (LYMPHOCYTES and MONOCYTES). |
Blood Cells, White,Blood Corpuscles, White,White Blood Cells,White Blood Corpuscles,Blood Cell, White,Blood Corpuscle, White,Corpuscle, White Blood,Corpuscles, White Blood,Leukocyte,White Blood Cell,White Blood Corpuscle |
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| D008052 |
Lipid Metabolism, Inborn Errors |
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. |
Lipid Metabolism, Inborn Error |
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| D008661 |
Metabolism, Inborn Errors |
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. |
Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors |
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| D008722 |
Methods |
A series of steps taken in order to conduct research. |
Techniques,Methodological Studies,Methodological Study,Procedures,Studies, Methodological,Study, Methodological,Method,Procedure,Technique |
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| D009083 |
Mucopolysaccharidoses |
Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency. |
Mucopolysaccharidosis |
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| D009085 |
Mucopolysaccharidosis IV |
Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme. |
Eccentro-Osteochondrodysplasia,Morquio's Disease,Eccentroosteochondrodysplasia,GALNS Deficiency,Galactosamine-6-Sulfatase Deficiency,MPS IV A,MPS IV B,MPS IVA,MPS IVB,Morquio A Disease,Morquio B Syndrome,Morquio Disease,Morquio Syndrome,Morquio Syndrome A,Morquio Syndrome B,Morquio Syndrome, Type B,Morquio's Disease Type B,Morquio's Syndrome,Morquio-B Disease,Mucopolysaccharidosis 4,Mucopolysaccharidosis 4B,Mucopolysaccharidosis Type IV,Mucopolysaccharidosis Type IV A,Mucopolysaccharidosis Type IV B,Mucopolysaccharidosis Type IVA,Mucopolysaccharidosis Type IVB,Deficiencies, GALNS,Deficiencies, Galactosamine-6-Sulfatase,Deficiency, GALNS,Deficiency, Galactosamine-6-Sulfatase,Disease, Morquio,Disease, Morquio A,Disease, Morquio's,Disease, Morquio-B,Eccentro Osteochondrodysplasia,Eccentro-Osteochondrodysplasias,Eccentroosteochondrodysplasias,GALNS Deficiencies,Galactosamine 6 Sulfatase Deficiency,Galactosamine-6-Sulfatase Deficiencies,IV, Mucopolysaccharidosis Type,IVs, Mucopolysaccharidosis Type,Morquio B Disease,Morquio Syndromes,Morquios Disease,Morquios Syndrome,Mucopolysaccharidosis 4Bs,Mucopolysaccharidosis Type IVBs,Mucopolysaccharidosis Type IVs,Syndrome A, Morquio,Syndrome, Morquio,Syndrome, Morquio B,Syndrome, Morquio's,Syndromes, Morquio,Type IV, Mucopolysaccharidosis,Type IVs, Mucopolysaccharidosis |
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| D009136 |
Muscular Dystrophies |
A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS. |
Muscular Dystrophy,Myodystrophica,Myodystrophy,Dystrophies, Muscular,Dystrophy, Muscular,Myodystrophicas,Myodystrophies |
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| D009222 |
Myotonia |
Prolonged failure of muscle relaxation after contraction. This may occur after voluntary contractions, muscle percussion, or electrical stimulation of the muscle. Myotonia is a characteristic feature of MYOTONIC DISORDERS. |
Myotonic Phenomenon,Percussion Myotonia,Myotonia, Percussion,Myotonias,Myotonias, Percussion,Myotonic Phenomenons,Percussion Myotonias,Phenomenon, Myotonic,Phenomenons, Myotonic |
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| D012035 |
Refsum Disease |
An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES. |
HMSN Type IV,Heredopathia Atactica Polyneuritiformis,Neuropathy, Hereditary Motor and Sensory, Type IV,Phytanic Acid Storage Disease,Adult Refsum Disease,Classic Refsum Disease,HMSN 4,HMSN IV,Hemeralopia Heredoataxia Polyneuritiformis,Hereditary Motor And Sensory Neuropathy IV,Hereditary Motor and Sensory Neuropathy Type IV,Hereditary Motor and Sensory Neuropathy, Type IV,Hereditary Type IV Motor and Sensory Neuropathy,Phytanic Acid Oxidase Deficiency,Refsum Disease, Adult,Refsum Disease, Classic,Refsum Disease, Phytanic Acid Oxidase Deficiency,Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency,Refsum Syndrome,Refsum's Disease,Refsum's Syndrome,Refsum-Thiebaut Syndrome,Adult Refsum Diseases,Classic Refsum Diseases,Disease, Adult Refsum,Disease, Classic Refsum,Disease, Refsum,Disease, Refsum's,Diseases, Adult Refsum,Diseases, Classic Refsum,HMSN IVs,Heredoataxia Polyneuritiformis, Hemeralopia,Polyneuritiformis, Hemeralopia Heredoataxia,Polyneuritiformis, Heredopathia Atactica,Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency,Refsum Diseases, Adult,Refsum Diseases, Classic,Refsum Thiebaut Syndrome,Refsum-Thiebaut Syndromes,Refsums Disease,Refsums Syndrome,Syndrome, Refsum,Syndrome, Refsum's,Syndrome, Refsum-Thiebaut,Syndromes, Refsum-Thiebaut |
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