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Alexander Disease

Go to external page http://purl.bioontology.org/ontology/MESH/D038261

Rare leukoencephalopathy with infantile-onset accumulation of Rosenthal fibers in the subpial, periventricular, and subependymal zones of the brain. Rosenthal fibers are GLIAL FIBRILLARY ACIDIC PROTEIN aggregates found in ASTROCYTES. Juvenile- and adult-onset types show progressive atrophy of the lower brainstem instead. De novo mutations in the GFAP gene are associated with the disease with propensity for paternal inheritance.

Instance info

Synonyms

Leukodystrophy with Rosenthal Fibers, Alexander-Krankheit (DE), Alexander's Disease, Alexander-Syndrom (DE), Alexanders Disease, Demyelinogenic Leukodystrophy, Fibrinoide Leukodystrophie (DE), Panneuropathie, hyaline (DE), Dysmyelinogenic Leukodystrophy, Fibrinoid Degeneration of Astrocytes, Hyaline Panneuropathie (DE), Leukodystrophie, dysmyelinogene (DE), Dysmyelinogene Leukodystrophie (DE), Leukodystrophie, fibrinoide (DE)

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

20030101

FX

D005904

HN

2003

MDA

20020702

MMR

20130708

MN

C10.574.500.024,C10.314.400.312,C18.452.648.189.362.312,C18.452.132.100.362.312,C16.320.565.189.362.312,C16.320.400.024,C10.228.140.163.100.362.312,C10.228.140.695.625.312

PM

2003

QB

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,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/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,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/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,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

RO

http://purl.bioontology.org/ontology/MESH/D005904

SIB

http://purl.bioontology.org/ontology/MESH/D014402,http://purl.bioontology.org/ontology/MESH/D009472,http://purl.bioontology.org/ontology/MESH/D013132,http://purl.bioontology.org/ontology/MESH/D009477,http://purl.bioontology.org/ontology/MESH/D015418,http://purl.bioontology.org/ontology/MESH/D020192,http://purl.bioontology.org/ontology/MESH/D015417,http://purl.bioontology.org/ontology/MESH/D028227,http://purl.bioontology.org/ontology/MESH/D006816,http://purl.bioontology.org/ontology/MESH/D016098,http://purl.bioontology.org/ontology/MESH/D007966,http://purl.bioontology.org/ontology/MESH/D007965,http://purl.bioontology.org/ontology/MESH/D014897,http://purl.bioontology.org/ontology/MESH/D009224,http://purl.bioontology.org/ontology/MESH/D009223,http://purl.bioontology.org/ontology/MESH/D006211,http://purl.bioontology.org/ontology/MESH/D038901,http://purl.bioontology.org/ontology/MESH/D017825,http://purl.bioontology.org/ontology/MESH/D005879,http://purl.bioontology.org/ontology/MESH/D020371,http://purl.bioontology.org/ontology/MESH/D020194,http://purl.bioontology.org/ontology/MESH/D004422,http://purl.bioontology.org/ontology/MESH/D003057,http://purl.bioontology.org/ontology/MESH/D054546,http://purl.bioontology.org/ontology/MESH/D055534,http://purl.bioontology.org/ontology/MESH/D017253,http://purl.bioontology.org/ontology/MESH/D020279,http://purl.bioontology.org/ontology/MESH/D000326,http://purl.bioontology.org/ontology/MESH/D006527

TERMUI

T483481,T483482,T840853,T840851,T840852,T840850

TH

GHR (2014),ORD (2010),OMIM (2013),NLM (2003)

cui

C0270726

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C531607

tui

T047

Instance relations

Types