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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 3  
age related macular degeneration 8  
Alagille syndrome  
Alpha-2-Deficient Collagen Disease 
Aquaporin 1 Deficiency 
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 23  
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
Cenani-Lenz syndactyly syndrome  
CHARGE syndrome  
chromosomal disease +   
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  
Congenital Hepatic Fibrosis  
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 Bilateral Parotidomegaly 
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
Hyperlactatemia 
hypogonadotropic hypogonadism 5 with or without anosmia +   
inherited metabolic disorder +   
A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. (DO)
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 +   
phosphorus metabolism disease +   
polygenic disease +   
porphyria +   
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
Proteostasis Deficiencies +   
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 ;   Metabolism, Inborn Errors ;   inborn metabolism disorder ;   metabolic hereditary disorder
Narrow Synonyms: DISORDERS OF INTRACELLULAR COBALAMIN METABOLISM
Related Synonyms: Carbonic anhydrase I deficiency ;   Carbonic anhydrase I, Guam
Primary IDs: MESH:D008661
Xrefs: NCI:C34816 ;   OMIM:PS249270
Definition Sources: http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism "DO" "DO", http://www.ncbi.nlm.nih.gov/mesh/68008659 "DO" "DO"

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