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loading...| Preferred Name |
Hereditary bundle branch system defect |
| Synonyms |
Heart block, progressive familial, type 1 |
| ID |
http://purl.bioontology.org/ontology/MESH/C566873 |
| altLabel |
Heart block, progressive familial, type 1 PfhbIa Pfhbi Progressive Familial Heart Block, Type Ia Heart Block, Progressive Familial, Type I Lenegre-Lev Disease Heart block progressive, familial Cardiac conduction defect, progressive Lenegre Lev disease Pfhb1a |
| cui |
C1879286 |
| HM |
D000075224 D006327 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20121105 |
| MeSH Frequency |
366 |
| MMR |
20170922 |
| notation |
C566873 |
| prefLabel |
Hereditary bundle branch system defect |
| SC |
3 |
| Scope Statement |
A form of heart block caused by dominant mutations in the SCN5A gene and characterized by RIGHT BUNDLE-BRANCH BLOCK. OMIM: 113900 |
| TERMUI |
T809312 T809309 T737420 T737418 T809311 T831198 T737417 T737424 T809315 T737422 T809310 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/600163 | Online Mendelian Inheritance in Man | CUI | |
| http://purl.bioontology.org/ontology/OMIM/113900 | Online Mendelian Inheritance in Man | CUI |