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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
genetic disease +     
Acid-Base Imbalance +   
acquired metabolic disease +   
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
advanced sleep phase syndrome 1  
advanced sleep phase syndrome 2  
advanced sleep phase syndrome 3  
age related macular degeneration 8  
Alagille syndrome  
Alpha-2-Deficient Collagen Disease 
Aquaporin 1 Deficiency 
ataxia telangiectasia +   
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
autoimmune lymphoproliferative syndrome +   
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type E1  
brachydactyly type E2  
CADASIL +   
CAKUT2  
carbohydrate metabolism disease +   
cataract 1 multiple types  
cataract 10 multiple types  
cataract 11 multiple types +   
cataract 12 multiple types  
cataract 13 with adult i phenotype  
cataract 14 multiple types  
cataract 15 multiple types  
cataract 16 multiple types  
cataract 18  
cataract 2 multiple types  
cataract 20 multiple types  
cataract 21 multiple types  
cataract 23  
cataract 24 
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
cataract 29 
cataract 3 multiple types  
cataract 30  
cataract 31 multiple types  
cataract 33  
cataract 36  
cataract 37 
cataract 38  
cataract 41  
cataract 42  
cataract 43  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
cataract 5 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Cenani-Lenz syndactyly syndrome  
CHARGE syndrome  
chromosomal disease +   
complement factor I deficiency  
complex cortical dysplasia with other brain malformations 1  
complex cortical dysplasia with other brain malformations 2  
complex cortical dysplasia with other brain malformations 3  
complex cortical dysplasia with other brain malformations 4  
complex cortical dysplasia with other brain malformations 5  
complex cortical dysplasia with other brain malformations 6  
complex cortical dysplasia with other brain malformations 7  
congenital diarrhea +   
congenital hemolytic anemia +   
Congenital Hepatic Fibrosis  
congenital hypoplastic anemia +   
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
Congenital Pain Insensitivity +   
desquamative interstitial pneumonia  
DNA Repair-Deficiency Disorders +   
Dwarfism +   
Familial Cirrhosis +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
Familial Temporal Epilepsy +   
frontotemporal dementia and/or amyotrophic lateral sclerosis-3  
frontotemporal dementia and/or amyotrophic lateral sclerosis-4  
Genetic Skin Diseases +   
glucose metabolism disease +   
hereditary angioedema +   
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
Hyperlactatemia 
hypogonadotropic hypogonadism 5 with or without anosmia +   
IMMUNODEFICIENCY 31B  
Immunodeficiency 38, with Basal Ganglia Calcification  
inherited metabolic disorder +   
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Laminopathies  
Lennox-Gastaut syndrome  
lipid metabolism disorder +   
Malabsorption Syndromes +   
Marfan syndrome +   
Metabolic Bone Diseases +   
Metabolic Brain Diseases +   
Metabolic Skin Diseases +   
Metabolic Syndrome +   
mineral metabolism disease +   
mitochondrial metabolism disease +   
monogenic disease +   
Nervous System Heredodegenerative Disorders +   
Nonimmune Chronic Idiopathic Neutropenia, Adult  
osteochondrodysplasia +   
Parotidomegaly, Hereditary Bilateral 
phosphorus metabolism disease +   
platelet-type bleeding disorder 10  
polycystic kidney disease +   
polygenic disease +   
porphyria +   
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
Proteostasis Deficiencies +   
pulmonary alveolar microlithiasis  
RASopathies  
Rh deficiency syndrome  
Sacral Agenesis with Vertebral Anomalies  
Wasting Syndrome +   
Water-Electrolyte Imbalance +   
yellow nail syndrome +  
 porphyria +   
 progeria +   

Synonyms
Exact Synonyms: Inborn Errors Metabolisms ;   Inborn Errors of Metabolism ;   Inborn Metabolism Error ;   Metabolic hereditary disorder ;   Metabolism, Inborn Errors ;   inborn metabolism disorder
Narrow Synonyms: DISORDERS OF INTRACELLULAR COBALAMIN METABOLISM
Related Synonyms: Carbonic anhydrase I deficiency ;   Carbonic anhydrase I, Guam
Primary IDs: MESH:D008661
Alternate IDs: RDO:0000348
Xrefs: NCI:C34816 ;   OMIM:PS249270
Definition Sources: MESH:D008661, http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism, http://www.ncbi.nlm.nih.gov/mesh/68008659

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.