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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
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Lipid Metabolism, Inborn Errors (D008052)
..Starting node
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Triglyceride Storage Disease, Type II (C566030)

       Child Nodes:



 Sister Nodes: 
..expand2,4-Dienoyl-CoA Reductase Deficiency (C565624)
..expandAcetyl-Coa Carboxylase Deficiency (C562678)
..expandAlpha-Methylacyl-CoA Racemase Deficiency (C565768)
..expandApolipoprotein E, Deficiency or Defect of (C566260)
..expandBarth Syndrome (D056889) Child2
..expandCarnitine palmitoyl transferase 1A deficiency (C535588)
..expandCarnitine Palmitoyltransferase II Deficiency, Infantile (C563462)
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..expandCarnitine-Acylcarnitine Translocase Deficiency (C562812)
..expandCholesteryl Ester Transfer Protein Deficiency (C564591)
..expandCytosolic acetoacetyl-CoA thiolase deficiency (C536005)
..expandDesmosterolosis (C566555)
..expandHydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency (C536080)
..expandHyperlipidemia, Familial Combined (D006950) Child2
..expandHyperlipoproteinemia Type I (D008072) Child1
..expandHyperlipoproteinemia Type II (D006938) Child4
..expandHyperlipoproteinemia Type III (D006952)
..expandHyperlipoproteinemia Type IV (D006953)
..expandHyperlipoproteinemia Type V (D006954)
..expandHypolipoproteinemias (D007009) Child14
..expandLipase deficiency combined (C535904)
..expandLipidoses (D008064) Child71
..expandLipodystrophy, Congenital Generalized (D052497) Child3
..expandLong-chain acyl-CoA dehydrogenase deficiency (C535690)
..expandLp(A) Deficiency, Congenital (C563618)
..expandMedium chain acyl CoA dehydrogenase deficiency (C536038)
..expandMyopathy with Abnormal Lipid Metabolism (C562935)
..expandNeutral Lipid Storage Disease with Myopathy (C565192)
..expandPeroxisomal ACYL-COA oxidase deficiency (C536662)
..expandShort chain Acyl CoA dehydrogenase deficiency (C537596)
..expandSitosterolemia (C537345)
..expandSmith-Lemli-Opitz Syndrome (D019082) Child1
..expandTrifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)
..expandTriglyceride storage disease with impaired long-chain fatty acid oxidation (C536560)
..expandTriglyceride Storage Disease, Type I (C566031)
..expandTriglyceride Storage Disease, Type II (C566030)
..expandVLCAD deficiency (C536353)
..expandXanthomatosis, Cerebrotendinous (D019294)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:11265
Name:Triglyceride Storage Disease, Type II
Definition:
Alternative IDs:
ParentIDs:MESH:D008052
TreeNumbers:C16.320.565.398/C566030 |C18.452.584.562/C566030 |C18.452.648.398/C566030
Synonyms:
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: C566030
MeSH: C566030
OMIM: 190430;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001513Obesity
Disease Causing ClinVar Variants