loading...| Preferred Name |
Fabry Disease |
|
| Synonyms |
Deficiency, Ceramide Trihexosidase |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D000795 |
|
| altLabel |
Deficiency, Ceramide Trihexosidase Deficiency, alpha-Galactosidase A Fabry's Disease alpha-Galactosidase A Deficiency Anderson Fabry Disease Diffuse Angiokeratoma alpha Galactosidase A Deficiency Disease Deficiency, GLA alpha Galactosidase A Deficiency Ceramide Trihexosidase Deficiency alpha-Galactosidase A Deficiency Disease Hereditary Dystopic Lipidosis Angiokeratoma Corporis Diffusum Angiokeratoma, Diffuse Lipidosis, Hereditary Dystopic Angiokeratoma Diffuse Anderson-Fabry Disease GLA Deficiency |
|
| AN |
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 |
|
| cui |
C0002986 |
|
| DC |
1 |
|
| definition |
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. |
|
| DX |
19730101 |
|
| FX |
D002518 D000519 |
|
| HN |
1999(1973) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
1999; see FABRY'S DISEASE 1992-1998; see ANGIOKERATOMA CORPORIS DIFFUSUM 1973-1991; for FABRY'S DISEASE see ANGIOKERATOMA CORPORIS DIFFUSUM 1974-1991 |
|
| Mapped from | ||
| MDA |
19990101 |
|
| MMR |
20230405 |
|
| MN |
C14.907.253.329.374 C18.452.584.563.641.803.300 C10.228.140.300.275.374 C18.452.648.189.435.825.200 C16.320.565.595.554.825.200 C10.228.140.163.100.435.825.200 C16.320.565.189.435.825.200 C18.452.132.100.435.825.200 C18.452.648.398.641.803.300 C16.320.322.124 C16.320.565.398.641.803.300 C18.452.648.595.554.825.200 |
|
| notation |
D000795 |
|
| prefLabel |
Fabry Disease |
|
| TERMUI |
T752796 T647662 T002356 T781487 T002358 T843439 T781486 T002357 T002359 T781488 T841352 |
|
| TH |
OMIM (2013) NLM (1973) NLM (1999) NLM (2012) NLM (1992) NLM (2010) GHR (2014) NLM (2007) NLM (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D040181 |