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Preferred Name

Abetalipoproteinemia
Synonyms

Abetalipoproteinaemia

Acanthocytosis

Apolipoprotein B deficiency

Abetalipoproteinemia neuropathy

Bassen-Kornzweig disease
ID

http://purl.bioontology.org/ontology/SNMI/D6-60210
altLabel

Abetalipoproteinaemia

Acanthocytosis

Apolipoprotein B deficiency

Abetalipoproteinemia neuropathy

Bassen-Kornzweig disease
Associated with

http://purl.bioontology.org/ontology/SNMI/M-27000

http://purl.bioontology.org/ontology/SNMI/F-63560
cui

C2931925

C0000744

C1704299

C0687751
notation

D6-60210
prefLabel

Abetalipoproteinemia
SIC

272.5
SMX

(M-27000) (F-63560)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/SNMI/D6-60000
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C540309 MESH CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000263 NDFRT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/190787008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10064504 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10083851 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10083851 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/200100 OMIM 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/OMIM/MTHU014871 OMIM 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/OMIM/157147 OMIM 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://purl.bioontology.org/ontology/NDFRT/N0000181234 NDFRT CUI
http://purl.bioontology.org/ontology/SCTSPA/190787008 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D052476 MESH CUI
http://purl.bioontology.org/ontology/RCD/C3253 RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D052476 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10052512 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10052512 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/250249008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10064504 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/MTHU019468 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10052483 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/X76tz RCD CUI
http://purl.bioontology.org/ontology/CSP/1849-5137 CRISP CUI
http://purl.bioontology.org/ontology/SCTSPA/250249008 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10052483 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10064504 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10052512 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10052483 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/MTHU014873 OMIM 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/OMIM/200100 OMIM 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://purl.bioontology.org/ontology/OMIM/MTHU014871 OMIM 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://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