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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618457
http://purl.bioontology.org/ontology/OMIM/618457
|
|---|---|
| Preferred Name | DEAFNESS, AUTOSOMAL RECESSIVE 115 |
| Synonyms |
DFNB115
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DFNB115
|
|---|---|
| prefLabel | DEAFNESS, AUTOSOMAL RECESSIVE 115
|
| Gene Symbol |
DFNB115
SPNS2
|
| Scope Statement | Onset within first 2 years of life [MISCELLANEOUS]
Caused by mutation in the sphingolipid transporter-2 gene (SPNS2, 612584.0001) [MOLECULAR BASIS]
Based on report of 1 patient (last curated May 2019) [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 17p13.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618457
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5193108
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |