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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/613079
http://purl.bioontology.org/ontology/OMIM/613079
|
|---|---|
| Preferred Name | DEAFNESS, AUTOSOMAL RECESSIVE 77 |
| Synonyms |
DFNB77
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DFNB77
|
|---|---|
| prefLabel | DEAFNESS, AUTOSOMAL RECESSIVE 77
|
| Gene Symbol |
LOXHD1
DFNB77
|
| Scope Statement | Congenital onset leading to cochlear implants between 7-10 years of age in Ashkenazi Jewish families [MISCELLANEOUS]
Caused by mutation in the lipoxygenase homology domains-containing 1 gene (LOXHD1, 613072.0001) [MOLECULAR BASIS]
Onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous Iranian family [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 18q12-q21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 613079
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2746083
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |