Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Friedreich ataxia 1 (DOID:0111218)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Friedreich ataxia +     
Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 
Friedreich ataxia 1 +   
A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1. (DO)
Friedreich ataxia 2 
Friedreich Ataxia Congenital Glaucoma 
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 

Synonyms
Exact Synonyms: FA1 ;   FRDA ;   FRDA1
Narrow Synonyms: FARR ;   Friedreich ataxia with retained reflexes
Primary IDs: MESH:C565561
Alternate IDs: DOID:9002947 ;   OMIM:229300 ;   RDO:0014166
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/10500204, https://www.ncbi.nlm.nih.gov/pubmed/10543403

paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.