TANGIER DISEASE

HIGH DENSITY LIPOPROTEIN DEFICIENCY, TYPE 1

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

HIGH DENSITY LIPOPROTEIN DEFICIENCY, TYPE 1

HDLDT1

ANALPHALIPOPROTEINEMIA

TGD

HIGH DENSITY LIPOPROTEIN DEFICIENCY, TANGIER TYPE

C0039292

9q22-q31

HPALP1

ABC1

TGD

ABCA1

HDLCQTL13

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Phenotype description, molecular basis known.

205400

3

pound

TANGIER DISEASE

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

T047