loading...| Preferred Name |
SICK SINUS SYNDROME 1 |
| Synonyms |
SINUS BRADYCARDIA SYNDROME, FAMILIAL |
| ID |
http://purl.bioontology.org/ontology/OMIM/608567 |
| altLabel |
SINUS BRADYCARDIA SYNDROME, FAMILIAL SICK SINUS SYNDROME, CONGENITAL SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL RECESSIVE SINUS RHYTHM, CONGENITAL ABSENCE OF SSS1 |
| cui |
C1837845 |
| Gene Locus |
3p22.2 |
| Gene Symbol |
CDCD2 CMD1E SCN5A HB1 SSS1 LQT3 VF1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU002138 http://purl.bioontology.org/ontology/OMIM/MTHU002132 http://purl.bioontology.org/ontology/OMIM/MTHU002136 http://purl.bioontology.org/ontology/OMIM/MTHU002134 http://purl.bioontology.org/ontology/OMIM/MTHU002131 http://purl.bioontology.org/ontology/OMIM/MTHU002135 http://purl.bioontology.org/ontology/OMIM/MTHU002133 http://purl.bioontology.org/ontology/OMIM/MTHU002129 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
608567 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
SICK SINUS SYNDROME 1 |
| Scope Statement |
Onset in utero, infancy, or early childhood [MISCELLANEOUS] Caused by mutation in the sodium channel, voltage-gated, type V, alpha polypeptide gene (SCN5A, 600163.0025) [MOLECULAR BASIS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C563907 | Medical Subject Headings / 医学主题词表 | CUI | |
| http://purl.obolibrary.org/obo/MONDO_0024562 | Mondo Disease Ontology / Mondo疾病本体 | LOOM |