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loading...| 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 |
Create mapping
| Delete | 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 |