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Ontology Browser

Term:
mevalonic aciduria (DOID:0050452)
Annotations: Rat: (5) Mouse: (5) Human: (5) Chinchilla: (4) Bonobo: (5) Dog: (5) Squirrel: (5) Pig: (5)
Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria +   
acatalasia  
adrenoleukodystrophy +   
alpha-methylacyl-CoA racemase deficiency  
Asparagine Synthetase Deficiency  
Autoinflammation with Arthritis and Dyskeratosis  
AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY  
Autoinflammation with Infantile Enterocolitis  
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated  
Autoinflammation, Immunde Dysregulation, and Eosinophilia  
autosomal dominant familial periodic fever  
Behcet's disease  
branched-chain keto acid dehydrogenase kinase deficiency  
Capillary Leak Syndrome with Monoclonal Gammopathy 
congenital bile acid synthesis defect 4  
creatine transporter deficiency  
Cryopyrin-Associated Periodic Syndromes +   
CST3-related cerebral amyloid angiopathy +   
D-bifunctional protein deficiency  
Defect of Tricarboxylic Acid Cycle 
Deficiency of Interleukin-1 Receptor Antagonist  
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +   
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
familial Mediterranean fever +   
galactosemia +   
glutaric acidemia type 3  
glycine encephalopathy +   
Hartnup disease  
Hereditary Central Nervous System Demyelinating Diseases +   
homocarnosinosis  
homocystinuria +   
Hyperimmunoglobulin G1(A1) Syndrome 
hyperlysinemia +   
immunodeficiency with hyper IgM type 5  
immunodeficiency with hyper-IgM type 2  
immunodeficiency with hyper-IgM type 4 
Leigh disease +   
Lesch-Nyhan syndrome +   
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis 
Lysosomal Storage Diseases, Nervous System +   
maple syrup urine disease +   
MELAS syndrome +   
Menkes disease +   
MERRF Syndrome +   
mevalonic aciduria  
A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis. (DO)
Microphthalmia and Mental Deficiency 
monoclonal gammopathy of uncertain significance +   
oculocerebrorenal syndrome +   
otulipenia  
Periodic Fever, Menstrual Cycle-Dependent  
peroxisomal acyl-CoA oxidase deficiency  
peroxisomal biogenesis disorder +   
PFAPA Syndrome  
phenylketonuria +   
Proteasome-Associated Autoinflammatory Syndromes +   
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression  
Refsum disease +   
retinal dystrophy with leukodystrophy  
rhizomelic chondrodysplasia punctata +   
Silengo Lerone Pelizza Syndrome 
STING-associated vasculopathy with onset in infancy  
tyrosinemia +   
urea cycle disorder +   
Wilson disease +   
YAO SYNDROME  
Zellweger syndrome +   

Synonyms
Exact Synonyms: HIDS ;   Hyperimmunoglobulinemia D And Periodic Fever Syndrome ;   MEVA ;   hyper IgD syndrome ;   hyper IgD syndromes ;   hyperimmunoglobulinemia D ;   mevalonate kinase deficiencies ;   mevalonate kinase deficiency ;   mevalonicaciduria ;   mevalonicacidurias ;   periodic fever, Dutch type
Primary IDs: MESH:D054078
Alternate IDs: OMIM:260920 ;   OMIM:610377
Xrefs: GARD:3588 ;   NCI:C84890 ;   ORDO:29
Definition Sources: https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria "DO"

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