Tangier disease
http://purl.obolibrary.org/obo/MONDO_0008783
Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults. [ Orphanet:31150 ]
Term info
- MedDRA:10051875 (Orphanet:31150/e)
- MESH:D013631 (Orphanet:31150/e)
- NCIT:C85182 (MONDO:equivalentTo)
- UMLS:C0039292 (Orphanet:31150/e)
- Orphanet:31150 (OMIM:205400)
- OMIM:205400 (Orphanet:31150/e)
- SCTID:723579009 (MONDO:equivalentTo)
- DOID:1388 (MONDO:equivalentTo)
- GARD:0007731 (MONDO:equivalentTo)
ordo_disease
http://identifiers.org/meddra/10051875
Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.
http://identifiers.org/snomedct/723579009, http://purl.obolibrary.org/obo/Orphanet_31150, http://identifiers.org/mesh/D013631, http://purl.obolibrary.org/obo/NCIT_C85182, http://purl.obolibrary.org/obo/DOID_1388, http://linkedlifedata.com/resource/umls/id/C0039292, https://omim.org/entry/205400
http://purl.obolibrary.org/obo/MONDO_0020127
familial alpha-lipoprotein deficiency, Analphalipoproteinemia, Tangier disease, defective adenosine triphosphate-binding cassette transporter A1, familial high density lipoprotein deficiency, ATP-binding cassette transporter A1 deficiency
tgd, high density lipoprotein deficiency, Tangier type, familial high density lipoprotein deficiency disease, high density lipoprotein deficiency, type 1, Analphalipo-proteinemia, Alpha high density lipoprotein deficiency disease, A-alphalipoprotein neuropathy, cholesterol thesaurismosis, HDL lipoprotein deficiency disease, familial Hypoalphalipo-proteinemia, HDLDT1
MONDO:0008783