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loading...| Preferred Name | DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON | |
| Synonyms |
DCHE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/617992 |
|
| altLabel |
DCHE |
|
| cui |
C1866053 |
|
| Gene Locus |
20p12 |
|
| Gene Symbol |
DCHE JAG1 AGS1 CMT2HH AHD |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU008683 http://purl.bioontology.org/ontology/OMIM/MTHU003302 http://purl.bioontology.org/ontology/OMIM/MTHU005530 http://purl.bioontology.org/ontology/OMIM/MTHU071858 http://purl.bioontology.org/ontology/OMIM/MTHU015095 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
617992 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON |
|
| Scope Statement |
Caused by mutation in the jagged 1 gene (JAG1, 601920.0012) [MOLECULAR BASIS] |
|
| tui |
T047 |
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