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loading...| Preferred Name |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 |
|
| Synonyms |
UHL ANOMALY |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/107970 |
|
| altLabel |
UHL ANOMALY ARVD1 ARVC1 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1 CARDIOMYOPATHY, RIGHT VENTRICULAR DILATED |
|
| cui |
C1862511 C1862512 C0265857 |
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| Gene Locus |
14q24 |
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| Gene Symbol |
LDS5 RNHF TGFB3 ARVD1 |
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| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU020048 http://purl.bioontology.org/ontology/OMIM/MTHU020049 |
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| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
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| notation |
107970 |
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| OMIM Entry Type |
3 |
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| OMIM MimType Value |
pound |
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| prefLabel |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 |
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| Scope Statement |
Caused by mutation in the transforming growth factor, beta-3 gene (TGFB3, 190230.0001) [MOLECULAR BASIS] Genetic heterogeneity [MISCELLANEOUS] |
|
| tui |
T047 T019 |
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