loading...| Preferred Name |
LEFT VENTRICULAR NONCOMPACTION 1 |
| Synonyms |
LVNC1 |
| ID |
http://purl.bioontology.org/ontology/OMIM/604169 |
| altLabel |
LVNC1 LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS |
| cui |
C1858725 |
| Gene Locus |
18q12.1-q12.2 |
| Gene Symbol |
LVNC1 D18S892E DTNA DRP3 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU038631 http://purl.bioontology.org/ontology/OMIM/MTHU013516 http://purl.bioontology.org/ontology/OMIM/MTHU005753 http://purl.bioontology.org/ontology/OMIM/MTHU011914 http://purl.bioontology.org/ontology/OMIM/MTHU005012 http://purl.bioontology.org/ontology/OMIM/MTHU038620 http://purl.bioontology.org/ontology/OMIM/MTHU006249 http://purl.bioontology.org/ontology/OMIM/MTHU038632 http://purl.bioontology.org/ontology/OMIM/MTHU038630 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
606617 |
| notation |
604169 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
LEFT VENTRICULAR NONCOMPACTION 1 |
| Scope Statement |
Caused by mutation in the alpha-dystrobrevin gene (DTNA, 601239.0001) [MOLECULAR BASIS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C565821 | Medical Subject Headings / 医学主题词表 | CUI | |
| http://purl.obolibrary.org/obo/MONDO_0011403 | Mondo Disease Ontology / Mondo疾病本体 | LOOM |