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loading...| Preferred Name |
JERVELL AND LANGE-NIELSEN SYNDROME 2 |
| Synonyms |
JLNS2 |
| ID |
http://purl.bioontology.org/ontology/OMIM/612347 |
| altLabel |
JLNS2 |
| cui |
C2676723 |
| Gene Locus |
21q22.1-q22.2 |
| Gene Symbol |
LQT5 JLNS2 JLNS KCNE1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU013508 http://purl.bioontology.org/ontology/OMIM/MTHU005008 http://purl.bioontology.org/ontology/OMIM/MTHU005012 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
612347 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
JERVELL AND LANGE-NIELSEN SYNDROME 2 |
| Scope Statement |
Genetic heterogeneity [MISCELLANEOUS] Caused by mutation in the potassium voltage-gated channel, Isk-related subfamily, member 1 gene (KCNE1, 176261.0001) [MOLECULAR BASIS] |
| tui |
T047 |