Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

ABETALIPOPROTEINEMIA
Synonyms

BASSEN-KORNZWEIG SYNDROME

MTP DEFICIENCY

MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY

ACANTHOCYTOSIS

ABL
ID

http://purl.bioontology.org/ontology/OMIM/200100
altLabel

BASSEN-KORNZWEIG SYNDROME

MTP DEFICIENCY

MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY

ACANTHOCYTOSIS

ABL
cui

C0000744
Gene Locus

4q22-q24
Gene Symbol

MTTP
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
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

200100
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ABETALIPOPROTEINEMIA
Scope Statement

Caused by mutation in the microsomal triglyceride transfer protein gene (MTP, 157147.0001) [MOLECULAR BASIS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/NDFRT/N0000000263 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10083851 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10083851 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/190787008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10CM/E78.6 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/190787008 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10083885 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/1849-5137 CRISP CUI
http://purl.bioontology.org/ontology/MESH/D000012 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10083885 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D6-60210 SNMI CUI
http://purl.bioontology.org/ontology/RCD/C3253 RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D000012 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10083851 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10083885 MDRGER CUI
http://identifiers.org/omim/200100 REXO LOOM
http://identifiers.org/omim/200100 GEXO LOOM
http://identifiers.org/omim/200100 RETO LOOM
http://purl.obolibrary.org/obo/OMIM_200100 CCO LOOM
http://id.nlm.nih.gov/mesh/D000012 MDM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Abetalipoproteinemia CSEO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84525 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000012 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0001029 OMIT LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/190787008 SNOMEDCT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1386 NATPRO LOOM
http://purl.obolibrary.org/obo/HP_0008181 HP LOOM
http://purl.obolibrary.org/obo/HP_0008181 UPHENO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10083885 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.398.500.440.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/CSP/1849-5137 CRISP LOOM
http://purl.obolibrary.org/obo/MONDO_0008692 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008692 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008692 DOVES LOOM
http://purl.bioontology.org/ontology/MESH/D000012 MESH LOOM
http://www.orpha.net/ORDO/Orphanet_14 ORDO LOOM
rgo:00732 GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#538 OCHV LOOM
rgo:22803 GAMUTS LOOM
http://purl.bioontology.org/ontology/SNMI/D6-60210 SNMI LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0000744 OCHV LOOM
http://nanbyodata.jp/ontology/NANDO_2200604 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.584.500.875.440.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C84525 BERO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085290 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.398.500.440.500 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_252 HRDO LOOM
http://purl.jp/bio/4/id/200906004966163161 IOBC LOOM
http://purl.obolibrary.org/obo/DOID_1386 CLO LOOM
http://purl.obolibrary.org/obo/DOID_1386 DOID LOOM
http://purl.obolibrary.org/obo/DOID_1386 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1386 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1386 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_1386 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1386 FNS-H LOOM
http://nanbyodata.jp/ontology/NANDO_1200857 NANDO LOOM