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Ontology Browser

Parent Terms Term With Siblings Child Terms
polyneuropathy +     
46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy  
alcoholic neuropathy  
Ataxia and Polyneuropathy, Adult-Onset  
chronic polyneuropathy +  
demyelinating polyneuropathy +   
Familial HDL Deficiency  
hereditary sensory neuropathy +   
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 14 
idiopathic progressive polyneuropathy 
Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 
Leukoencephalopathy with Dystonia and Motor Neuropathy  
Norum disease  
paraneoplastic polyneuropathy 
PCWH syndrome  
PHARC syndrome  
POEMS syndrome 
Polyendocrine-Polyneuropathy Syndrome  
polyneuropathy in collagen vascular disease 
polyradiculoneuropathy +   
Ribose 5-Phosphate Isomerase Deficiency  
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease 
sensory peripheral neuropathy  
Severe Infantile Axonal Neuropathy 
Tangier disease  
An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of ALPHA-LIPOPROTEINS (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD.
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)  
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 

Exact Synonyms: A-alphalipoprotein Neuropathies ;   A-alphalipoprotein Neuropathy ;   Alpha High Density Lipoprotein Deficiency Disease ;   Analphalipoproteinemias ;   Cholesterol Thesaurismoses ;   Cholesterol Thesaurismosis ;   HDLDT1 ;   High Density Lipoprotein Deficiency, Tangier Type ;   High Density Lipoprotein Deficiency, Type 1 ;   High Density Lipoprotein Deficiency, Type I ;   Neuropathy of Tangier Disease ;   TGD ;   Tangier Disease Neuropathy ;   Tangier hereditary neuropathy ;   analphalipoproteinemia ;   familial alpha-lipoprotein deficiency ;   familial high density lipoprotein deficiency ;   familial hypoalphalipoproteinemia
Primary IDs: MESH:D013631
Alternate IDs: OMIM:205400 ;   RDO:0000224
Xrefs: GARD:7731 ;   NCI:C85182
Definition Sources: MESH:D013631

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