Terminology Service for NFDI4Health
An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)
Instance info
Synonyms
Friedreich's Familial Ataxia, Ataxia, Friedreich, Ataxia, Friedreich Spinocerebellar, Hereditary Spinal Ataxia, Friedreich, Familial Ataxia, Friedreich's, Hereditary Spinal Scleroses, Friedreich Ataxias, Hereditary Ataxia, Friedreich's, Disease, Friedreich, Hereditary Spinal Sclerosis, Ataxias, Friedreich, Friedreich's Hereditary Ataxias, Ataxia, Friedreich's Familial, Friedreich Hereditary Spinal Ataxia, Ataxia, Friedreich's Hereditary, Scleroses, Hereditary Spinal, Friedreich's Hereditary Ataxia, Friedreich Familial Ataxia, Ataxia, Friedreich's, Ataxia, Friedreich Familial, Hereditary Ataxia, Friedreich, Spinal Sclerosis, Hereditary, Friedreich Disease, Friedreichs Familial Ataxia, Friedreich's Hereditary Spinal Ataxia, Ataxias, Friedreich's Hereditary, Familial Ataxia, Friedreich, Spinal Scleroses, Hereditary, Friedreichs Hereditary Ataxia, Friedreich-Krankheit (Ataxie) (DE), Ataxia, Friedreich Hereditary, Hereditäre spinale Sklerose (DE), Spinocerebellar Ataxia, Friedreich, Sklerose, hereditäre, spinale (DE), Friedreich-Ataxie (DE), Friedreich Spinocerebellar Ataxia, Sclerosis, Hereditary Spinal, Hereditary Ataxias, Friedreich's, Friedreich's Disease, Friedreich Hereditary Ataxia, Hereditary Spinal Ataxia, Friedreich's, Friedreich's Ataxia, Disease, Friedreich's
AQL
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
DC
1
DX
20000101
HN
2000(1966); for FRIEDREICH'S DISEASE use MYOCLONUS 1997-1999
MDA
19990101
MMR
20130708
MN
C16.320.400.780.200,C18.452.660.300,C10.574.500.825.200,C10.228.140.252.700.150,C10.228.854.787.200
PM
2000; see FRIEDREICH'S ATAXIA 1966-1999; for FRIEDREICH'S DISEASE see MYOCLONUS 1997-1999
QB
http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503
SIB
http://purl.bioontology.org/ontology/MESH/D015324,http://purl.bioontology.org/ontology/MESH/D015325,http://purl.bioontology.org/ontology/MESH/D029242,http://purl.bioontology.org/ontology/MESH/D030401,http://purl.bioontology.org/ontology/MESH/D029241,http://purl.bioontology.org/ontology/MESH/D020165,http://purl.bioontology.org/ontology/MESH/D054069,http://purl.bioontology.org/ontology/MESH/D020754,http://purl.bioontology.org/ontology/MESH/D017240,http://purl.bioontology.org/ontology/MESH/D007625,http://purl.bioontology.org/ontology/MESH/D007888,http://purl.bioontology.org/ontology/MESH/D002527,http://purl.bioontology.org/ontology/MESH/D009849
TERMUI
T364819,T368116,T373518,T373517,T017014,T368115,T017015,T368118,T017016,T368114,T368113,T027458,T027457,T368109,T368108
TH
GHR (2014),ORD (2010),NLM (1966),NLM (2000),UNK (19XX),NLM (1997)
cui
C0016719
hasSTY
http://purl.bioontology.org/ontology/STY/T047
mapped from
http://purl.bioontology.org/ontology/MESH/C565561,http://purl.bioontology.org/ontology/MESH/C566594,http://purl.bioontology.org/ontology/MESH/C538061,http://purl.bioontology.org/ontology/MESH/C564999,http://purl.bioontology.org/ontology/MESH/C564657,http://purl.bioontology.org/ontology/MESH/C564446
tui
T047
Instance relations
Types