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loading...| Preferred Name |
CARDIOMYOPATHY, DILATED, 1U |
| Synonyms |
CMD1U |
| ID |
http://purl.bioontology.org/ontology/OMIM/613694 |
| altLabel |
CMD1U |
| cui |
C3160720 |
| Gene Locus |
14q24.3 |
| Gene Symbol |
AD3 ACNINV3 PSEN1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU009472 http://purl.bioontology.org/ontology/OMIM/MTHU034522 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
613694 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
CARDIOMYOPATHY, DILATED, 1U |
| Scope Statement |
Caused by mutation in the presenilin-1 gene (PSEN1, 104311.0034) [MOLECULAR BASIS] |
| tui |
T047 |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C566296 | Medical Subject Headings / 医学主题词表 | CUI | |
| http://purl.bioontology.org/ontology/MESH/C566296 | Medical Subject Headings / 医学主题词表 | LOOM |