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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614934
http://purl.bioontology.org/ontology/OMIM/614934
|
|---|---|
| Preferred Name | DEAFNESS, AUTOSOMAL RECESSIVE 70, WITH OR WITHOUT ADULT-ONSET NEURODEGENERATION |
| Synonyms |
DFNB70
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DFNB70
|
|---|---|
| prefLabel | DEAFNESS, AUTOSOMAL RECESSIVE 70, WITH OR WITHOUT ADULT-ONSET NEURODEGENERATION
|
| Gene Symbol |
PNPT1
OLD35
DFNB70
SCA25
COXPD13
|
| Scope Statement | Congenital onset of deafness [MISCELLANEOUS]
One family (family A) had isolated congenital hearing loss [MISCELLANEOUS]
One family (family B) had congenital hearing loss with onset of neurodegenerative features in mid-to-late adulthood [MISCELLANEOUS]
Caused by mutation in the polyribonucleotide nucleotidyltransferase 1 gene (PNPT1, 610316.0002) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 2p16.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614934
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1824925
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |