Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

FRATAXIN
Synonyms

FXN

FRIEDREICH ATAXIA WITH RETAINED REFLEXES

FRDA GENE

X25

FRIEDREICH ATAXIA

ID

http://purl.bioontology.org/ontology/OMIM/606829

altLabel

FXN

FRIEDREICH ATAXIA WITH RETAINED REFLEXES

FRDA GENE

X25

FRIEDREICH ATAXIA

cui

C0016719

C1414812

C1847416

Gene Locus

9q13

Gene Symbol

FARR

FXN

FRDA

X25

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/606829.0007

http://purl.bioontology.org/ontology/OMIM/606829.0006

http://purl.bioontology.org/ontology/OMIM/606829.0005

http://purl.bioontology.org/ontology/OMIM/606829.0004

http://purl.bioontology.org/ontology/OMIM/606829.0003

http://purl.bioontology.org/ontology/OMIM/606829.0008

http://purl.bioontology.org/ontology/OMIM/606829.0002

http://purl.bioontology.org/ontology/OMIM/606829.0001

http://purl.bioontology.org/ontology/OMIM/606829.0009

MIMTYPEMEANING

Gene with known sequence

notation

606829

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

FRATAXIN

tui

T047

T028

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Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/G11.11 ICD10CM CUI
http://purl.bioontology.org/ontology/LNC/LP33147-7 LOINC CUI
http://purl.bioontology.org/ontology/MESH/C564657 MESH CUI
http://purl.bioontology.org/ontology/ICD9CM/334.0 ICD9CM CUI
http://purl.bioontology.org/ontology/CSP/0485-3493 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10017374 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001292 NDFRT CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0016719 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MDRGER/10017374 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10017374 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/DA-22010 SNMI CUI
http://purl.bioontology.org/ontology/MESH/D005621 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/10394003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/10394003 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D005621 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/F140. RCD CUI
http://purl.bioontology.org/ontology/ICD10CM/G11.11 ICD10CM CUI
http://www.limics.org/hrdo/rdfns#gen_id_16083 HRDO LOOM
http://purl.bioontology.org/ontology/LNC/LP207802-2 LOINC LOOM
http://purl.bioontology.org/ontology/MESH/D000096923 MESH LOOM
http://purl.bioontology.org/ontology/LNC/MTHU052840 LOINC LOOM
http://purl.jp/bio/4/id/200906008483374027 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C098527 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_121965 ORDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#31947 OCHV LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0387678 OCHV LOOM