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Abetalipoproteinemia

Go to external page http://purl.bioontology.org/ontology/MESH/D000012

An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL.

Instance info

Synonyms

Mangel an mikrosomalem Triglyceridtransferprotein (DE), Acanthocytosis, Microsomal Triglyceride Transfer Protein Deficiency, Microsomal Triglyceride Transfer Protein Deficiency Disease, Deficiency Diseases, Betalipoprotein, Bassen-Kornzweig Syndrome, Acanthocytoses, Bassen-Kornzweig Disease, Betalipoprotein Deficiency Diseases, Betalipoprotein Deficiency Disease, Mikrosomale Triglycerid-Transfer-Protein-Mangelkrankheit (DE), Bassen Kornzweig Syndrome, Disease, Betalipoprotein Deficiency, Deficiency Disease, Betalipoprotein, Abetalipoproteinämie (DE), Diseases, Betalipoprotein Deficiency, Bassen Kornzweig Disease, Bassen-Kornzweig-Syndrom (DE)

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

19660101

HN

1966(1964)

MDA

19990101

MMR

20130708

MN

C16.320.565.398.500.440.500,C18.452.584.500.875.440.500,C18.452.648.398.500.440.500

PM

1966

QB

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

RO

http://purl.bioontology.org/ontology/MESH/D001055

SIB

http://purl.bioontology.org/ontology/MESH/D052476

TERMUI

T000025,T646365,T000024,T365903,T365904,T751239,T811395

TH

GHR (2014),NLM (2007),ORD (2010),OMIM (2013),NLM (2000),NLM (2010),UNK (19XX),NLM (1964)

cui

C0000744

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C564736,http://purl.bioontology.org/ontology/MESH/C540309

tui

T047

Instance relations

Types