leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome

about

MFF

P2293

Q18042668-40B86C42-774D-46C9-A635-C5D3FA1A2C82

P2293

leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome

Item

http://www.wikidata.org/entity/Q55785101

description

human disease

@en

name

leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome

@en

type

Item

label

leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome

@en

altLabel

EMPF2

@en

Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2

@en

Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission type 2

@en

prefLabel

leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome

@en

P1550

485421

http://www.w3.org/2001/XMLSchema#string

P2293

MFF

P279

neurometabolic disease

rare genetic developmental defect during embryogenesis

genetic syndromic intellectual disability

rare hereditary metabolic disease with peripheral neuropathy

mitochondrial oxidative phosphorylation disorder with no known mechanism

syndromic hereditary optic neuropathy

P2888

Orphanet_485421

P2892

C4310726

http://www.w3.org/2001/XMLSchema#string

P31

Banaw

developmental defect during embryogenesis

rare disease

P492

617086

http://www.w3.org/2001/XMLSchema#string

P5270

MONDO:0014905

http://www.w3.org/2001/XMLSchema#string