loading...| Preferred Name |
obsolete_Fabry disease |
|
| Synonyms |
FD Angiokeratoma corporis diffusum Anderson-Fabry disease Alpha-galactosidase A deficiency Diffuse angiokeratoma |
|
| Definitions |
Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_324 |
|
| Obsolete |
true |
|
| database_cross_reference |
UMLS:C0002986 MedDRA:10016016 ICD10:E75.2 MeSH:D000795 OMIM:301500 |
|
| definition |
Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. |
|
| definition_citation |
orphanet |
|
| deprecated |
true |
|
| has_exact_synonym |
Diffuse angiokeratoma Alpha-galactosidase A deficiency Anderson-Fabry disease Angiokeratoma corporis diffusum FD |
|
| label |
obsolete_Fabry disease |
|
| obsoleted_in_version |
3.41.0 |
|
| prefLabel |
obsolete_Fabry disease |
|
| reason_for_obsolescence |
Replaced with Mondo term. |
|
| term replaced by | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_324 | ORDO | SAME_URI |