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loading...| Preferred Name |
DEAFNESS, AUTOSOMAL DOMINANT 17 |
|
| Synonyms |
COCHLEOSACCULAR DEGENERATION DFNA17 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/603622 |
|
| altLabel |
COCHLEOSACCULAR DEGENERATION DFNA17 |
|
| cui |
C1863660 C1863659 |
|
| Gene Locus |
22q11.2 |
|
| Gene Symbol |
MHA FTNS MYH9 MATINS DFNA17 BDPLT6 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU005029 http://purl.bioontology.org/ontology/OMIM/MTHU005027 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
603622 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
DEAFNESS, AUTOSOMAL DOMINANT 17 |
|
| Scope Statement |
Onset of hearing loss in late childhood or adolescence [MISCELLANEOUS] Caused by mutation in the myosin, heavy chain 9, nonmuscle gene (MYH9, 160775.0008) [MOLECULAR BASIS] |
|
| tui |
T047 T033 |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C535507 | MESH | CUI | |
| http://purl.obolibrary.org/obo/OMIM_603622 | CCO | LOOM | |
| http://identifiers.org/omim/603622 | REXO | LOOM | |
| http://identifiers.org/omim/603622 | GEXO | LOOM | |
| http://identifiers.org/omim/603622 | RETO | LOOM |