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loading...| Preferred Name | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | |
| Synonyms |
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 8 ARVD8 ARVC8 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/607450 |
|
| altLabel |
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 8 ARVD8 ARVC8 |
|
| cui |
C1843896 |
|
| Gene Locus |
6p24 |
|
| Gene Symbol |
PPKS2 KPPS2 DSP DCWHKTA |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU022216 http://purl.bioontology.org/ontology/OMIM/MTHU009472 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
607450 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 |
|
| Scope Statement |
Caused by mutation in the desmoplakin gene (DSP, 125647.0003) [MOLECULAR BASIS] Genetic heterogeneity [MISCELLANEOUS] |
|
| tui |
T047 |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C564400 | MESH | CUI | |
| http://phenomebrowser.net/ontologies/mesh/mesh.owl#C564400 | RH-MESH | LOOM | |
| http://purl.bioontology.org/ontology/MESH/C564400 | MESH | LOOM | |
| http://identifiers.org/omim/607450 | REXO | LOOM | |
| http://identifiers.org/omim/607450 | GEXO | LOOM | |
| http://identifiers.org/omim/607450 | RETO | LOOM |