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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/606829
http://purl.bioontology.org/ontology/OMIM/606829
|
|---|---|
| Preferred Name | FRATAXIN |
| Synonyms |
FXN
FRIEDREICH ATAXIA WITH RETAINED REFLEXES
FRDA GENE
X25
FRIEDREICH ATAXIA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
FXN
FRIEDREICH ATAXIA WITH RETAINED REFLEXES
FRDA GENE
X25
FRIEDREICH ATAXIA
|
|---|---|
| prefLabel |
FRATAXIN
|
| Gene Symbol |
FARR
FXN
FRDA
X25
|
| notation |
606829
|
| Has allelic variant |
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|
| OMIM MimType Value |
star
|
| Semantic type UMLS property | |
| OMIM Entry Type |
1
|
| type | |
| MIMTYPEMEANING |
Gene with known sequence
|
| Gene Locus |
9q13
|
| Phenotype of |
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|
| tui |
T047
T028
|
| cui |
C0016719
C1414812
C1847416
|
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