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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618145
http://purl.bioontology.org/ontology/OMIM/618145
|
|---|---|
| Preferred Name | DEAFNESS, AUTOSOMAL RECESSIVE 111 |
| Synonyms |
DFNB111
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DFNB111
|
|---|---|
| prefLabel | DEAFNESS, AUTOSOMAL RECESSIVE 111
|
| Gene Symbol |
EVA1
EVA
MPZL2
DFNB111
|
| Scope Statement | High frequency range more severely affected [MISCELLANEOUS]
Caused by mutation in the myelin protein zero-like 2 gene (MPZL2, 604873.0001) [MOLECULAR BASIS]
Mean age of onset 4 years (range 3-9 years) [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 11q24
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618145
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4748374
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |