loading...| Preferred Name |
Fabry Disease |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84701 |
| ALT_DEFINITION |
An X-linked lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A, which results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure. |
| code |
C84701 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123272 |
| Contributing_Source |
NICHD |
| DEFINITION |
A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure. |
| FULL_SYN |
Angiokeratoma Corporis Diffusum Alpha-Galactosidase A Deficiency Fabry's Disease |
| Has_NICHD_Parent | |
| label |
Fabry Disease |
| NCI_META_CUI |
CL412926 |
| NICHD_Hierarchy_Term |
Fabry Disease |
| Preferred_Name |
Fabry Disease |
| prefixIRI |
C84701 |
| prefLabel |
Fabry Disease |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0002986 |
| subClassOf |