Terminology Service < Semantic Lookup Platform

Fabry Disease

http://purl.bioontology.org/ontology/MESH/D000795

An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.

Tree view

Instance info

Synonyms

Fabry-Krankheit (DE), GLA Deficiency, Deficiency, Ceramide Trihexosidase, Anderson Fabry Disease, Fabry's Disease, Deficiency, alpha-Galactosidase A, Anderson-Fabry Disease, alpha Galactosidase A Deficiency, Angiokeratoma, Diffuse, Hereditary Dystopic Lipidosis, Diffuse Angiokeratoma, Lipidosis, Hereditary Dystopic, Deficiency, GLA, Angiokeratoma Corporis Diffusum, alpha Galactosidase A Deficiency Disease, Ceramide Trihexosidase Deficiency, alpha-Galactosidase A Deficiency, Angiokeratoma Diffuse, alpha-Galactosidase A Deficiency Disease, Angiokeratoma corporis diffusum (DE), Fabry-Anderson-Syndrom (DE)

do not confuse entry term ANDERSON-FABRY DISEASE with ANDERSEN'S DISEASE

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

19730101

D002518,D000519

1999(1973)

MDA

19990101

MMR

20130708

C10.228.140.300.275.374,C10.228.140.163.100.435.825.200,C18.452.132.100.435.825.200,C18.452.584.687.803.300,C18.452.648.398.641.803.300,C18.452.648.189.435.825.200,C14.907.253.329.374,C18.452.648.595.554.825.200,C16.320.565.189.435.825.200,C16.320.565.595.554.825.200,C16.320.565.398.641.803.300,C16.320.322.124

1999; see FABRY'S DISEASE 1992-1998; see ANGIOKERATOMA CORPORIS DIFFUSUM 1973-1991; for FABRY'S DISEASE see ANGIOKERATOMA CORPORIS DIFFUSUM 1974-1991

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/D000519,http://purl.bioontology.org/ontology/MESH/D002518

SIB

http://purl.bioontology.org/ontology/MESH/D058540,http://purl.bioontology.org/ontology/MESH/D015794,http://purl.bioontology.org/ontology/MESH/D013734,http://purl.bioontology.org/ontology/MESH/D014923,http://purl.bioontology.org/ontology/MESH/D052516,http://purl.bioontology.org/ontology/MESH/D020163,http://purl.bioontology.org/ontology/MESH/D053307,http://purl.bioontology.org/ontology/MESH/D056830,http://purl.bioontology.org/ontology/MESH/D009800,http://purl.bioontology.org/ontology/MESH/D006015,http://purl.bioontology.org/ontology/MESH/D020388,http://purl.bioontology.org/ontology/MESH/D005489,http://purl.bioontology.org/ontology/MESH/D020389,http://purl.bioontology.org/ontology/MESH/D017241,http://purl.bioontology.org/ontology/MESH/D002836,http://purl.bioontology.org/ontology/MESH/D007965,http://purl.bioontology.org/ontology/MESH/D016114,http://purl.bioontology.org/ontology/MESH/D009542,http://purl.bioontology.org/ontology/MESH/D012618,http://purl.bioontology.org/ontology/MESH/D028243,http://purl.bioontology.org/ontology/MESH/D038901,http://purl.bioontology.org/ontology/MESH/D059409,http://purl.bioontology.org/ontology/MESH/D020371,http://purl.bioontology.org/ontology/MESH/D056889,http://purl.bioontology.org/ontology/MESH/D055953,http://purl.bioontology.org/ontology/MESH/D019871,http://purl.bioontology.org/ontology/MESH/D053358,http://purl.bioontology.org/ontology/MESH/D046589,http://purl.bioontology.org/ontology/MESH/D055577,http://purl.bioontology.org/ontology/MESH/D055534,http://purl.bioontology.org/ontology/MESH/D053632,http://purl.bioontology.org/ontology/MESH/D052120,http://purl.bioontology.org/ontology/MESH/D057973,http://purl.bioontology.org/ontology/MESH/D006105,http://purl.bioontology.org/ontology/MESH/D005776,http://purl.bioontology.org/ontology/MESH/D005733

TERMUI

T841352,T781486,T781487,T002359,T002358,T843439,T002357,T002356,T647662,T781488,T752796

NLM (2007),GHR (2014),NLM (1992),ORD (2010),OMIM (2013),NLM (1999),NLM (2010),NLM (1973),NLM (2014),NLM (2012)

cui

C0002986

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C567062,http://purl.bioontology.org/ontology/MESH/C563940

tui

T047

Instance relations

Types

Class