Link to this page
Medical Subject Headings
Last uploaded:
August 28, 2024
Jump to:
| Preferred Name | Fabry Disease, Cardiac Variant | |
| Synonyms |
|
|
| ID |
http://purl.bioontology.org/ontology/MESH/C567062 |
|
| cui |
C1970820
|
|
| HM |
D000795
|
|
| Inverse of RB |
0
|
|
| Mapped to | ||
| MDA |
20121105
|
|
| MeSH Frequency |
60
|
|
| MMR |
20160929
|
|
| notation |
C567062
|
|
| prefLabel |
Fabry Disease, Cardiac Variant
|
|
| SC |
3
|
|
| Scope Statement |
A form of Fabry Disease characterized by LEFT VENTRICULAR HYPERTROPHY that occurs in the sixth decade of life. It is associated with specific mutations, including Q279E and R301Q, in the GLA (ALPHA-GALACTOSIDASE) gene. OMIM: 300644.0008
|
|
| TERMUI |
T809689
|
|
| TH |
OMIM (2013)
|
|
| tui |
T047
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping
| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/301500 | OMIM | CUI |
| http://purl.bioontology.org/ontology/OMIM/300644 | OMIM | CUI |
| http://phenomebrowser.net/ontologies/mesh/mesh.owl#C567062 | RH-MESH | LOOM |