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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
2,4-Dienoyl-CoA Reductase Deficiency  
2-hydroxyglutaric aciduria +   
acatalasia  
Acetyl-Coa Carboxylase Deficiency  
adrenoleukodystrophy +   
alpha-methylacyl-CoA racemase deficiency  
Alstrom syndrome  
Apolipoprotein A-I, Deficiency of +   
APOLIPOPROTEIN A-II DEFICIENCY  
Apolipoprotein E, Deficiency or Defect of +   
Asparagine Synthetase Deficiency  
Barth syndrome +   
branched-chain keto acid dehydrogenase kinase deficiency  
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 
carnitine palmitoyltransferase I deficiency  
carnitine palmitoyltransferase II deficiency +   
carnitine-acylcarnitine translocase deficiency  
cerebrotendinous xanthomatosis  
Charcot-Marie-Tooth disease +   
chylomicron retention disease  
CK syndrome  
Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy 
congenital bile acid synthesis defect 4  
Congenital Lp(A) Deficiency  
creatine transporter deficiency  
CST3-related cerebral amyloid angiopathy +   
Cytosolic Acetoacetyl-CoA Thiolase Deficiency  
D-bifunctional protein deficiency  
Defect of Tricarboxylic Acid Cycle 
Desmosterolosis  
distal hereditary motor neuronopathy type 7 +   
Dyslipidemias +   
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +   
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
essential tremor 2  
familial combined hyperlipidemia +   
familial hyperlipidemia +   
galactosemia +   
Giant Axonal Neuropathy +   
glutaric acidemia type 3  
glycine encephalopathy +   
Glycosylphosphatidylinositol Deficiency +   
Hagemoser Weinstein Bresnick Syndrome 
Hartnup disease  
Hepatic Lipase Deficiency  
Hereditary Central Nervous System Demyelinating Diseases +   
Hereditary Motor and Sensory Neuropathy with Excessive Myelin Folding Complex, Autosomal Recessive 
hereditary neuropathy with liability to pressure palsies  
Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 
Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive  
hereditary spastic paraplegia +   
Hereditary Thermosensitive Neuropathy 
homocarnosinosis  
homocystinuria +   
hyperlipoproteinemia type IV  
hyperlysinemia +   
Hypertriglyceridemia, Transient Infantile  
hypolipoproteinemia +   
Leigh disease +   
Lesch-Nyhan syndrome +   
lipid storage disease +   
lipodystrophy +   
lipoid proteinosis  
lipomatosis +   
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency +   
Lysosomal Storage Diseases, Nervous System +   
maple syrup urine disease +   
medium chain acyl-CoA dehydrogenase deficiency  
MELAS syndrome +   
MEND syndrome  
Menkes disease +   
MERRF Syndrome +   
mevalonic aciduria  
Microphthalmia and Mental Deficiency 
multiple congenital anomalies-hypotonia-seizures syndrome +   
Myopathy with Abnormal Lipid Metabolism  
neutral lipid storage disease +   
oculocerebrorenal syndrome +   
Pancreatic Lipase Deficiency  
peroxisomal acyl-CoA oxidase deficiency  
peroxisomal biogenesis disorder +   
Peroxisomal Fatty Acyl-CoA Reductase 1 Disorder   
phenylketonuria +   
Phospholipase A2, Group IVA, Deficiency of  
Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive 
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression  
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.
rhizomelic chondrodysplasia punctata +   
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
short chain acyl-CoA dehydrogenase deficiency  
Silengo Lerone Pelizza Syndrome 
sitosterolemia +   
Slowed Nerve Conduction Velocity, Autosomal Dominant  
Smith-Lemli-Opitz syndrome +   
SPOAN syndrome  
steroid inherited metabolic disorder +   
syndromic X-linked intellectual disability type 10  
Tamari Goodman Syndrome 
Triglyceride Storage Disease, Type I 
Triglyceride Storage Disease, Type II 
tyrosinemia +   
urea cycle disorder +   
very long chain acyl-CoA dehydrogenase deficiency  
Wilson disease +   
xanthomatosis +   
Zellweger syndrome +   

Synonyms
Exact Synonyms: Adult Refsum Disease ;   Adult Refsum Diseases ;   Classic Refsum Disease ;   Classic Refsum Diseases ;   HMSN 4 ;   HMSN IV ;   HMSN IVs ;   HMSN Type IV ;   HMSN4 ;   HSMN IV ;   Hemeralopia Heredoataxia Polyneuritiformis ;   Hereditary Motor And Sensory Neuropathy Iv ;   Hereditary Motor and Sensory Neuropathy Type IV ;   Heredopathia Atactica Polyneuritiformis ;   Phytanic Acid Oxidase Deficiency ;   Phytanic Acid Storage Disease ;   Refsum Disease, Phytanic Acid Oxidase Deficiency ;   Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency ;   Refsum Syndrome ;   Refsum Thiebaut Syndrome ;   Refsum's Syndrome ;   Refsum's disease ;   Refsum-Thiebaut Syndromes ;   Refsums Syndrome ;   Refsums disease
Primary IDs: MESH:D012035
Alternate IDs: OMIM:266500 ;   RDO:0000672
Xrefs: GARD:5691 ;   ICD9CM:356.3 ;   NCI:C85043
Definition Sources: MESH:D012035

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