Terminology Service for NFDI4Health
An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).
Instance info
Synonyms
ALD (Adrenoleukodystrophie) (DE), X-Linked Adrenoleukodystrophy, X-chromosomal-gebundene Adrenoleukodystrophie (DE), X-ALD, Siemerling-Creutzfeldt Disease, X-chromosomale Adrenoleukodystrophie (DE), Melanodermic Leukodystrophy, Adrenomyeloneuropathie (DE), Adrenoleukodystrophie (DE), X Linked Adrenoleukodystrophy, Leukodystrophy, Melanodermic, Schilder-Addison Complex, Addison Disease and Cerebral Sclerosis, X ALD, Schilder-Addison-Komplex (DE), Adrenomyeloneuropathy, Schilder Addison Complex, ALD (Adrenoleukodystrophy), X-ALD (X-Linked Adrenoleukodystrophy), Adrenoleukodystrophy, X-Linked, Bronze Schilder Disease, Leukodystrophies, Melanodermic, X ALD (X Linked Adrenoleukodystrophy), Siemerling Creutzfeldt Disease
AN
do not confuse with ADRENOLEUKODYSTROPHY, NEONATAL see PEROXISOMAL DISORDERS
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
19910101
FX
D018528
HN
1991(1983)
MDA
19820427
MMR
20180630
MN
C18.452.132.100.362.250,C18.452.132.100.084,C18.452.648.189.362.250,C10.228.140.163.100.362.250,C16.320.565.189.362.250,C10.228.140.695.625.250,C16.320.322.500.124,C18.452.648.189.084,C10.314.400.250,C18.452.648.663.100,C16.320.400.525.124,C16.320.565.189.084,C10.597.606.360.455.124,C19.053.500.270,C16.320.565.663.100,C10.228.140.163.100.084
PM
1991; see CEREBRAL SCLEROSIS, DIFFUSE 1983-1990
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/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,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/Q000662,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,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
RO
http://purl.bioontology.org/ontology/MESH/D018528
SIB
http://purl.bioontology.org/ontology/MESH/D018902,http://purl.bioontology.org/ontology/MESH/D010661,http://purl.bioontology.org/ontology/MESH/D014884,http://purl.bioontology.org/ontology/MESH/D005693,http://purl.bioontology.org/ontology/MESH/D015211,http://purl.bioontology.org/ontology/MESH/D052919,http://purl.bioontology.org/ontology/MESH/D015518,http://purl.bioontology.org/ontology/MESH/D020140,http://purl.bioontology.org/ontology/MESH/D007706,http://purl.bioontology.org/ontology/MESH/D007926,http://purl.bioontology.org/ontology/MESH/D020167,http://purl.bioontology.org/ontology/MESH/D009800,http://purl.bioontology.org/ontology/MESH/D038261,http://purl.bioontology.org/ontology/MESH/D006994,http://purl.bioontology.org/ontology/MESH/D017243,http://purl.bioontology.org/ontology/MESH/D017241,http://purl.bioontology.org/ontology/MESH/D054078,http://purl.bioontology.org/ontology/MESH/D020642,http://purl.bioontology.org/ontology/MESH/D005600,http://purl.bioontology.org/ontology/MESH/D007966,http://purl.bioontology.org/ontology/MESH/D007965,http://purl.bioontology.org/ontology/MESH/D006712,http://purl.bioontology.org/ontology/MESH/D007888,http://purl.bioontology.org/ontology/MESH/D012035,http://purl.bioontology.org/ontology/MESH/D015324,http://purl.bioontology.org/ontology/MESH/D038921,http://purl.bioontology.org/ontology/MESH/D006250,http://purl.bioontology.org/ontology/MESH/D015325,http://purl.bioontology.org/ontology/MESH/D016532,http://purl.bioontology.org/ontology/MESH/D008375,http://purl.bioontology.org/ontology/MESH/D028243,http://purl.bioontology.org/ontology/MESH/D017825,http://purl.bioontology.org/ontology/MESH/D056806,http://purl.bioontology.org/ontology/MESH/D020371,http://purl.bioontology.org/ontology/MESH/D000224,http://purl.bioontology.org/ontology/MESH/D020176,http://purl.bioontology.org/ontology/MESH/D052120,http://purl.bioontology.org/ontology/MESH/D020158,http://purl.bioontology.org/ontology/MESH/D020279,http://purl.bioontology.org/ontology/MESH/D054221,http://purl.bioontology.org/ontology/MESH/D006527
TERMUI
T366223,T001072,T001071,T845603,T843481,T366221,T366222,T000880983,T000880984,T000880985,T000880986
TH
GHR (2014),NLM (1993),ORD (2010),OMIM (2013),NLM (2000),NLM (2014),NLM (1983)
cui
C0162309,C1527231
hasSTY
http://purl.bioontology.org/ontology/STY/T047
mapped from
http://purl.bioontology.org/ontology/MESH/C536662,http://purl.bioontology.org/ontology/MESH/C536692
tui
T047
Instance relations
Types