Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/200100
http://purl.bioontology.org/ontology/OMIM/200100
Preferred Name

ABETALIPOPROTEINEMIA
Synonyms
BASSEN-KORNZWEIG SYNDROME
MTP DEFICIENCY
MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY
ACANTHOCYTOSIS
ABL
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
BASSEN-KORNZWEIG SYNDROME
MTP DEFICIENCY
MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY
ACANTHOCYTOSIS
ABL
prefLabel
ABETALIPOPROTEINEMIA
Gene Symbol
MTTP
Scope Statement
Caused by mutation in the microsomal triglyceride transfer protein gene (MTP, 157147.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU036555
http://purl.bioontology.org/ontology/OMIM/MTHU036407
http://purl.bioontology.org/ontology/OMIM/MTHU014870
http://purl.bioontology.org/ontology/OMIM/MTHU003224
http://purl.bioontology.org/ontology/OMIM/MTHU076552
http://purl.bioontology.org/ontology/OMIM/MTHU009718
http://purl.bioontology.org/ontology/OMIM/MTHU076548
http://purl.bioontology.org/ontology/OMIM/MTHU000226
http://purl.bioontology.org/ontology/OMIM/MTHU014871
http://purl.bioontology.org/ontology/OMIM/MTHU076546
http://purl.bioontology.org/ontology/OMIM/MTHU030302
http://purl.bioontology.org/ontology/OMIM/MTHU000282
http://purl.bioontology.org/ontology/OMIM/MTHU076549
http://purl.bioontology.org/ontology/OMIM/MTHU000225
http://purl.bioontology.org/ontology/OMIM/MTHU076551
http://purl.bioontology.org/ontology/OMIM/MTHU076544
http://purl.bioontology.org/ontology/OMIM/MTHU001411
http://purl.bioontology.org/ontology/OMIM/MTHU046684
http://purl.bioontology.org/ontology/OMIM/MTHU076550
http://purl.bioontology.org/ontology/OMIM/MTHU076545
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU076555
http://purl.bioontology.org/ontology/OMIM/MTHU036349
http://purl.bioontology.org/ontology/OMIM/MTHU076547
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU014873
http://purl.bioontology.org/ontology/OMIM/MTHU076554
http://purl.bioontology.org/ontology/OMIM/MTHU053052
http://purl.bioontology.org/ontology/OMIM/MTHU076553
http://purl.bioontology.org/ontology/OMIM/MTHU002606
See more
See less
tui
T047
Gene Locus
4q22-q24
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
200100
Semantic type UMLS property
Has inheritance type
cui
C0000744
OMIM Entry Type
3
OMIM MimType Value
pound
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display