Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

TANGIER DISEASE
Synonyms

HDLDT1

ANALPHALIPOPROTEINEMIA

HIGH DENSITY LIPOPROTEIN DEFICIENCY, TYPE 1

HIGH DENSITY LIPOPROTEIN DEFICIENCY, TANGIER TYPE

TGD
ID

http://purl.bioontology.org/ontology/OMIM/205400
altLabel

HDLDT1

ANALPHALIPOPROTEINEMIA

HIGH DENSITY LIPOPROTEIN DEFICIENCY, TYPE 1

HIGH DENSITY LIPOPROTEIN DEFICIENCY, TANGIER TYPE

TGD
cui

C0039292
Gene Locus

9q22-q31
Gene Symbol

HPALP1

TGD

ABCA1

HDLCQTL13

ABC1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU026303

http://purl.bioontology.org/ontology/OMIM/MTHU008003

http://purl.bioontology.org/ontology/OMIM/MTHU026311

http://purl.bioontology.org/ontology/OMIM/MTHU026317

http://purl.bioontology.org/ontology/OMIM/MTHU026315

http://purl.bioontology.org/ontology/OMIM/MTHU001038

http://purl.bioontology.org/ontology/OMIM/MTHU001050

http://purl.bioontology.org/ontology/OMIM/MTHU037244

http://purl.bioontology.org/ontology/OMIM/MTHU026309

http://purl.bioontology.org/ontology/OMIM/MTHU026314

http://purl.bioontology.org/ontology/OMIM/MTHU026318

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU026316

http://purl.bioontology.org/ontology/OMIM/MTHU004893

http://purl.bioontology.org/ontology/OMIM/MTHU026310

http://purl.bioontology.org/ontology/OMIM/MTHU026306

http://purl.bioontology.org/ontology/OMIM/MTHU002513

http://purl.bioontology.org/ontology/OMIM/MTHU026313

http://purl.bioontology.org/ontology/OMIM/MTHU026305

http://purl.bioontology.org/ontology/OMIM/MTHU026307

http://purl.bioontology.org/ontology/OMIM/MTHU026304

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU036909

http://purl.bioontology.org/ontology/OMIM/MTHU026312

http://purl.bioontology.org/ontology/OMIM/MTHU011914

http://purl.bioontology.org/ontology/OMIM/MTHU008101

http://purl.bioontology.org/ontology/OMIM/MTHU036408
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

205400
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

TANGIER DISEASE
Scope Statement

Caused by mutation in the ATP-binding cassette, subfamily A, member 1 gene (ABCA1, 600046.0001) [MOLECULAR BASIS]
tui

T047
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Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/723579009 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10CM/E78.6 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/723579009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/1849-5194 CRISP CUI
http://purl.bioontology.org/ontology/MESH/D013631 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D013631 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10051875 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10051875 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/D6-60230 SNMI CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002898 NDFRT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/15346004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/15346004 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/X40Vt RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10051875 MEDDRA CUI
http://purl.obolibrary.org/obo/NCIT_C85182 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Tangier_Disease CSEO LOOM
http://purl.obolibrary.org/obo/OMIT_0014490 OMIT LOOM
http://purl.obolibrary.org/obo/MONDO_0008783 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008783 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008783 DOVES LOOM
http://www.limics.org/hrdo/rdfns#pat_id_9288 HRDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/723579009 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.398.500.330.750 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#12029 OCHV LOOM
http://purl.bioontology.org/ontology/CSP/1849-5194 CRISP LOOM
http://purl.obolibrary.org/obo/DERMO_0000558 DERMO LOOM
http://www.orpha.net/ORDO/Orphanet_31150 ORDO LOOM
http://purl.bioontology.org/ontology/MESH/D013631 MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1388 NATPRO LOOM
http://purl.obolibrary.org/obo/DOID_1388 DOID LOOM
http://purl.obolibrary.org/obo/DOID_1388 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1388 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1388 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_1388 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1388 FNS-H LOOM
http://purl.jp/bio/4/id/200906044008976965 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.398.500.330.750 RH-MESH LOOM
urn:agi-folder:tangier_disease BPT LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15118 DERMLEX LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038421 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.668.829.800.875 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.584.500.875.330.750 RH-MESH LOOM
rgo:26347 GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0039292 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D013631 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85182 NCIT LOOM
http://nanbyodata.jp/ontology/NANDO_1200854 NANDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10051875 MEDDRA LOOM