Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder Metabolic Diseases Metabolic Disease A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. SubClass Nickel Metabolic Disorder Nickel_Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Nickel_Metabolic_Disorder A storage disorder that results from impaired metabolism of nickel. InstanceCount 0 DEFINITION A storage disorder that results from impaired metabolism of nickel. SubClass RdfType rdfs:label Nickel Metabolic Disorder rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class ChildCount 0 Semantic_Type Disease or Syndrome code C97327 NCI_META_CUI CL429821 Preferred_Name Nickel Metabolic Disorder class Electrolyte Disorder Electrolyte_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Electrolyte_Disorder A metabolic disorder that is characterized by electrolyte imbalances (e.g., hyperkalemia, hypokalemia, and hypercalcemia). InstanceCount 0 DEFINITION A metabolic disorder that is characterized by electrolyte imbalances (e.g., hyperkalemia, hypokalemia, and hypercalcemia). SubClass RdfType rdfs:label Electrolyte Disorder rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class ChildCount 0 Semantic_Type Disease or Syndrome Legacy Concept Name Electrolyte_Disorder UMLS_CUI C0342579 code C27120 Preferred_Name Electrolyte Disorder class Hemosiderosis Hemosiderosis http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hemosiderosis Accumulation of iron in internal organs. InstanceCount 0 DEFINITION Accumulation of iron in internal organs. SubClass RdfType rdfs:label Hemosiderosis rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class ChildCount 1 Semantic_Type Disease or Syndrome Legacy Concept Name Hemosiderosis UMLS_CUI C0019114 code C82892 Preferred_Name Hemosiderosis class Porphyria Porphyria http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Porphyria A group of genetic or acquired metabolic disorders characterized by defects in the enzymes that are involved in the heme synthesis. InstanceCount 0 DEFINITION A group of genetic or acquired metabolic disorders characterized by defects in the enzymes that are involved in the heme synthesis. SubClass RdfType rdfs:label Porphyria rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class ChildCount 6 Semantic_Type Disease or Syndrome UMLS_CUI C0032708 code C97096 Preferred_Name Porphyria class Nutritional Disorder Nutritional_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Nutritional_Disorder Any condition related to a disturbance between proper intake and utilization of nourishment. SubClass rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class rdfs:label Nutritional Disorder Concept_In_Subset NICHD Pediatric Terminology National_Institute_of_Child_Health_and_Human_Development_Pediatric_Terminology http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#National_Institute_of_Child_Health_and_Human_Development_Pediatric_Terminology class Legacy Concept Name Nutritional_Disorder code C26836 Has_NICHD_Parent Systemic Disease Systemic_Disease http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Systemic_Disease class DEFINITION Any condition related to a disturbance between proper intake and utilization of nourishment. InstanceCount 0 RdfType ChildCount 4 Semantic_Type Disease or Syndrome UMLS_CUI C0028709 Contributing_Source NICHD Preferred_Name Nutritional Disorder class Pseudogout Pseudogout http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Pseudogout An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints. InstanceCount 0 DEFINITION An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints. SubClass RdfType rdfs:label Pseudogout rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class Arthritis Arthritis http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Arthritis class ChildCount 0 Semantic_Type Disease or Syndrome Legacy Concept Name Pseudogout UMLS_CUI C0033802 code C34955 Preferred_Name Pseudogout class Hypophosphatasia Hypophosphatasia http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hypophosphatasia A rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase (TNSALP) activity. It is characterized by low activity of TNSALP in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders. SubClass rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class Rare Non-Neoplastic Disorder Rare_Non-Neoplastic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder class rdfs:label Hypophosphatasia Legacy Concept Name Hypophosphatasia code C26798 DEFINITION A rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase (TNSALP) activity. It is characterized by low activity of TNSALP in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders. InstanceCount 0 RdfType ChildCount 0 Semantic_Type Disease or Syndrome UMLS_CUI C0020630 ALT_DEFINITION <ncicp:ComplexDefinition xmlns:ncicp="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><ncicp:def-definition>A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)</ncicp:def-definition><ncicp:def-source>MSH2003_2003_05_12</ncicp:def-source></ncicp:ComplexDefinition> Preferred_Name Hypophosphatasia class Zinc Deficiency Disorder Zinc_Deficiency_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Zinc_Deficiency_Disorder A genetic or acquired metabolic disorder that is associated with zinc deficiency in the tissues. InstanceCount 0 DEFINITION A genetic or acquired metabolic disorder that is associated with zinc deficiency in the tissues. SubClass RdfType rdfs:label Zinc Deficiency Disorder rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class ChildCount 0 Semantic_Type Disease or Syndrome UMLS_CUI C0235950 code C97099 Preferred_Name Zinc Deficiency Disorder class Acyl-CoA Dehydrogenase, Short-Chain Deficiency Acyl-CoA_Dehydrogenase_Short-Chain_Deficiency http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Acyl-CoA_Dehydrogenase_Short-Chain_Deficiency Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (SCAD) Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD) SCAD A genetic disorder characterized by deficiency of the enzyme short-chain acyl-coenzyme A dehydrogenase that metabolizes short-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia, lethargy, hypotonia and failure to thrive. InstanceCount 0 DEFINITION A genetic disorder characterized by deficiency of the enzyme short-chain acyl-coenzyme A dehydrogenase that metabolizes short-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia, lethargy, hypotonia and failure to thrive. SubClass RdfType rdfs:label Acyl-CoA Dehydrogenase, Short-Chain Deficiency rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class Rare Non-Neoplastic Disorder Rare_Non-Neoplastic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder class ChildCount 0 Semantic_Type Disease or Syndrome UMLS_CUI C0342783 code C84539 FULL_SYN Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (SCAD) SCAD Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD) Preferred_Name Acyl-CoA Dehydrogenase, Short-Chain Deficiency class Acyl-CoA Dehydrogenase, Medium-Chain Deficiency Acyl-CoA_Dehydrogenase_Medium-Chain_Deficiency http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Acyl-CoA_Dehydrogenase_Medium-Chain_Deficiency MCAD Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCAD) Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) A genetic disorder characterized by deficiency of the enzyme medium-chain acyl-coenzyme A dehydrogenase that metabolizes medium-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia and lethargy. InstanceCount 0 DEFINITION A genetic disorder characterized by deficiency of the enzyme medium-chain acyl-coenzyme A dehydrogenase that metabolizes medium-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia and lethargy. SubClass RdfType rdfs:label Acyl-CoA Dehydrogenase, Medium-Chain Deficiency rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class Rare Non-Neoplastic Disorder Rare_Non-Neoplastic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder class ChildCount 0 Semantic_Type Disease or Syndrome UMLS_CUI C0220710 code C84538 FULL_SYN MCAD Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCAD) Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) Preferred_Name Acyl-CoA Dehydrogenase, Medium-Chain Deficiency class Emaciation Emaciation http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Emaciation InstanceCount 0 SubClass RdfType rdfs:label Emaciation rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class ChildCount 0 Semantic_Type Disease or Syndrome Legacy Concept Name Emaciation UMLS_CUI C0013911 ALT_DEFINITION <ncicp:ComplexDefinition xmlns:ncicp="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><ncicp:def-definition>Clinical manifestation of excessive leanness usually caused by disease or a lack of nutrition.</ncicp:def-definition><ncicp:def-source>MSH2003_2003_05_12</ncicp:def-source></ncicp:ComplexDefinition> code C34570 Preferred_Name Emaciation class Acyl-CoA Dehydrogenase, Very Long-Chain Deficiency Acyl-CoA_Dehydrogenase_Very_Long-Chain_Deficiency http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Acyl-CoA_Dehydrogenase_Very_Long-Chain_Deficiency An autosomal recessive inherited disorder characterized by a deficiency of the enzyme very long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms may appear in infancy, early childhood, or later in life. Clinical manifestations in infancy include cardiomyopathy, arrhythmias, hypotonia, and hepatomegaly. Early childhood manifestations include hypoglycemia and hepatomegaly. Later-onset manifestations include muscle pain, cramps, and rhabdomyolysis. InstanceCount 0 DEFINITION An autosomal recessive inherited disorder characterized by a deficiency of the enzyme very long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms may appear in infancy, early childhood, or later in life. Clinical manifestations in infancy include cardiomyopathy, arrhythmias, hypotonia, and hepatomegaly. Early childhood manifestations include hypoglycemia and hepatomegaly. Later-onset manifestations include muscle pain, cramps, and rhabdomyolysis. SubClass RdfType rdfs:label Acyl-CoA Dehydrogenase, Very Long-Chain Deficiency rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class Rare Non-Neoplastic Disorder Rare_Non-Neoplastic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder class ChildCount 0 Semantic_Type Disease or Syndrome code C98647 Preferred_Name Acyl-CoA Dehydrogenase, Very Long-Chain Deficiency class Hyperlipoproteinemia Hyperlipoproteinemia http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hyperlipoproteinemia InstanceCount 0 SubClass RdfType rdfs:label Hyperlipoproteinemia rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class ChildCount 2 Semantic_Type Disease or Syndrome Legacy Concept Name Hyperlipoproteinemia UMLS_CUI C0020476 ALT_DEFINITION <ncicp:ComplexDefinition xmlns:ncicp="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><ncicp:def-definition>Metabolic disease characterized by excess plasma LIPOPROTEINS.</ncicp:def-definition><ncicp:def-source>MSH2003_2003_05_12</ncicp:def-source></ncicp:ComplexDefinition> code C34709 Preferred_Name Hyperlipoproteinemia class Metabolic Bone Disorder Metabolic_Bone_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Bone_Disorder MBD Metabolic Bone Disease A group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin D. Representative examples are osteomalacia, osteoporosis, and Paget disease. InstanceCount 0 DEFINITION A group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin D. Representative examples are osteomalacia, osteoporosis, and Paget disease. SubClass RdfType rdfs:label Metabolic Bone Disorder rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class Non-Neoplastic Bone Disorder Non-Neoplastic_Bone_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Non-Neoplastic_Bone_Disorder class ChildCount 3 Semantic_Type Disease or Syndrome UMLS_CUI C0005944 code C97045 FULL_SYN Metabolic Bone Disease MBD Preferred_Name Metabolic Bone Disorder class Multiple Acyl-CoA Dehydrogenase Deficiency Multiple_Acyl-CoA_Dehydrogenase_Deficiency http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Multiple_Acyl-CoA_Dehydrogenase_Deficiency Multiple Acyl Coenzyme A Dehydrogenase Deficiency A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, and ETFDH genes. It is characterized by defects of the electron transfer flavoprotein or electron transfer flavoprotein dehydrogenase. Clinical presentations include congenital abnormalities, hepatomegaly, metabolic acidosis, and hypotonia. InstanceCount 0 DEFINITION A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, and ETFDH genes. It is characterized by defects of the electron transfer flavoprotein or electron transfer flavoprotein dehydrogenase. Clinical presentations include congenital abnormalities, hepatomegaly, metabolic acidosis, and hypotonia. SubClass RdfType rdfs:label Multiple Acyl-CoA Dehydrogenase Deficiency rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class Rare Non-Neoplastic Disorder Rare_Non-Neoplastic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder class ChildCount 0 Semantic_Type Disease or Syndrome UMLS_CUI C0268596 code C84907 FULL_SYN Multiple Acyl Coenzyme A Dehydrogenase Deficiency Preferred_Name Multiple Acyl-CoA Dehydrogenase Deficiency class Hypoalphalipoproteinemia Hypoalphalipoproteinemia http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hypoalphalipoproteinemia A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood. InstanceCount 0 DEFINITION A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood. SubClass RdfType rdfs:label Hypoalphalipoproteinemia rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class Rare Non-Neoplastic Disorder Rare_Non-Neoplastic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder class ChildCount 0 Semantic_Type Disease or Syndrome UMLS_CUI C0473527 code C84774 Preferred_Name Hypoalphalipoproteinemia class Carbohydrate Metabolism Disorder Carbohydrate_Metabolism_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Carbohydrate_Metabolism_Disorder An inherited or acquired disorder that affects the metabolism of the carbohydrates. Representative examples include diabetes mellitus, glycogen storage disease, mucopolysaccharidoses, and lactose intolerance. InstanceCount 0 DEFINITION An inherited or acquired disorder that affects the metabolism of the carbohydrates. Representative examples include diabetes mellitus, glycogen storage disease, mucopolysaccharidoses, and lactose intolerance. SubClass RdfType rdfs:label Carbohydrate Metabolism Disorder rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class ChildCount 5 Semantic_Type Disease or Syndrome UMLS_CUI C0149670 code C97089 Preferred_Name Carbohydrate Metabolism Disorder class Phosphorus Metabolic Disorder Phosphorus_Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Phosphorus_Metabolic_Disorder A metabolic disorder that affects the phosphate homeostasis. InstanceCount 0 DEFINITION A metabolic disorder that affects the phosphate homeostasis. SubClass RdfType rdfs:label Phosphorus Metabolic Disorder rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class ChildCount 0 Semantic_Type Disease or Syndrome UMLS_CUI C0031707 code C97095 Preferred_Name Phosphorus Metabolic Disorder class Congenital Metabolic Disorder Inborn_Errors_of_Metabolism http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Inborn_Errors_of_Metabolism Inborn Errors of Metabolism A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. SubClass rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class rdfs:label Congenital Metabolic Disorder Concept_In_Subset NICHD Pediatric Terminology National_Institute_of_Child_Health_and_Human_Development_Pediatric_Terminology http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#National_Institute_of_Child_Health_and_Human_Development_Pediatric_Terminology class NICHD Newborn Screening Terminology National_Institute_of_Child_Health_and_Human_Development_Newborn_Screening_Terminology http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#National_Institute_of_Child_Health_and_Human_Development_Newborn_Screening_Terminology class Legacy Concept Name Inborn_Errors_of_Metabolism FULL_SYN Inborn Errors of Metabolism code C34816 Has_NICHD_Parent Systemic Congenital Disorder Systemic_Congenital_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Systemic_Congenital_Disorder class InstanceCount 0 DEFINITION A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. RdfType ChildCount 14 Semantic_Type Disease or Syndrome UMLS_CUI C0025521 ALT_DEFINITION <ncicp:ComplexDefinition xmlns:ncicp="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><ncicp:def-definition>Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.</ncicp:def-definition><ncicp:def-source>MSH2003_2003_05_12</ncicp:def-source></ncicp:ComplexDefinition> Contributing_Source NICHD Preferred_Name Congenital Metabolic Disorder class Lipodystrophy Lipodystrophy http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Lipodystrophy A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body. InstanceCount 0 DEFINITION A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body. SubClass RdfType rdfs:label Lipodystrophy rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class ChildCount 3 Semantic_Type Disease or Syndrome UMLS_CUI C0023787 code C97093 Preferred_Name Lipodystrophy class Gout Gout http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Gout InstanceCount 0 SubClass RdfType rdfs:label Gout rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class Arthritis Arthritis http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Arthritis class ChildCount 0 Semantic_Type Disease or Syndrome Legacy Concept Name Gout UMLS_CUI C0018099 ALT_DEFINITION <ncicp:ComplexDefinition xmlns:ncicp="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><ncicp:def-definition>A condition marked by increased levels of uric acid in the blood, joints, and tissue. The buildup of uric acid in the joints and tissues causes arthritis and inflammation.</ncicp:def-definition><ncicp:def-source>NCI-GLOSS</ncicp:def-source></ncicp:ComplexDefinition> <ncicp:ComplexDefinition xmlns:ncicp="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><ncicp:def-definition>Hereditary metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi.</ncicp:def-definition><ncicp:def-source>MSH2003_2003_05_12</ncicp:def-source></ncicp:ComplexDefinition> code C34650 Preferred_Name Gout class Acyl-CoA Dehydrogenase, Long-Chain Deficiency Acyl-CoA_Dehydrogenase_Long-Chain_Deficiency http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Acyl-CoA_Dehydrogenase_Long-Chain_Deficiency Long-Chain Acyl-CoA Dehydrogenase Deficiency (LCAD) LCAD Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (LCAD) A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy. InstanceCount 0 DEFINITION A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy. SubClass RdfType rdfs:label Acyl-CoA Dehydrogenase, Long-Chain Deficiency rdfs:subClassOf Metabolic Disorder Metabolic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder class Rare Non-Neoplastic Disorder Rare_Non-Neoplastic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder class ChildCount 0 Semantic_Type Disease or Syndrome UMLS_CUI C0220711 code C84537 FULL_SYN LCAD Long-Chain Acyl-CoA Dehydrogenase Deficiency (LCAD) Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (LCAD) Preferred_Name Acyl-CoA Dehydrogenase, Long-Chain Deficiency class rdfs:subClassOf Non-Neoplastic Disorder by Special Category Non-Neoplastic_Disorder_by_Special_Category http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Non-Neoplastic_Disorder_by_Special_Category class rdfs:label Metabolic Disorder Legacy Concept Name Metabolic_Disorder FULL_SYN Metabolic Disease Metabolic Diseases code C3235 SuperClass Non-Neoplastic Disorder by Special Category Non-Neoplastic_Disorder_by_Special_Category http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Non-Neoplastic_Disorder_by_Special_Category Non-Neoplastic Disease by Special Category InstanceCount 0 SubClass RdfType rdfs:label Non-Neoplastic Disorder by Special Category rdfs:subClassOf Non-Neoplastic Disorder Non-Neoplastic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Non-Neoplastic_Disorder class ChildCount 10 Semantic_Type Disease or Syndrome Legacy Concept Name Non-Neoplastic_Disorder_by_Special_Category UMLS_CUI C1709248 code C53547 FULL_SYN Non-Neoplastic Disease by Special Category Preferred_Name Non-Neoplastic Disorder by Special Category class DEFINITION A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. InstanceCount 0 RdfType ChildCount 22 Semantic_Type Disease or Syndrome UMLS_CUI C0025517 ALT_DEFINITION <ncicp:ComplexDefinition xmlns:ncicp="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><ncicp:def-definition>A condition in which normal metabolic processes are disrupted, usually because of a missing enzyme.</ncicp:def-definition><ncicp:def-source>NCI-GLOSS</ncicp:def-source></ncicp:ComplexDefinition> Preferred_Name Metabolic Disorder class