Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	ABETALIPOPROTEINEMIA
Synonyms	MTP DEFICIENCY
ID	http://purl.bioontology.org/ontology/OMIM/200100
altLabel	MTP DEFICIENCY MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY ABL BASSEN-KORNZWEIG SYNDROME ACANTHOCYTOSIS
cui	C0000744
Gene Locus	4q22-q24
Gene Symbol	MTP
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU014870 http://purl.bioontology.org/ontology/OMIM/MTHU014872 http://purl.bioontology.org/ontology/OMIM/MTHU013555 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU002306 http://purl.bioontology.org/ontology/OMIM/MTHU058298 http://purl.bioontology.org/ontology/OMIM/MTHU014873 http://purl.bioontology.org/ontology/OMIM/MTHU014871
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	200100
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	ABETALIPOPROTEINEMIA
tui	T047

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/HP_0008181	Human Phenotype Ontology	LOOM
http://purl.bioontology.org/ontology/ICD10CM/E78.6	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84525	National Cancer Institute Thesaurus	LOOM
http://purl.obolibrary.org/obo/DOID_1386	Human Disease Ontology 123	LOOM
http://purl.bioontology.org/ontology/MESH/D000012	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/D000012	Medical Subject Headings	LOOM