pontocerebellar hypoplasia type 6

about

RARS2

P2293

Q18042845-FA505156-62E0-4916-9A62-2A89244E9F29

P2293

pontocerebellar hypoplasia type 6

Item

http://www.wikidata.org/entity/Q18966158

description

Human disease

@en

Krankheit

@de

مرض يصيب الإنسان

@ar

name

pontocerebellar hypoplasia type 6

@en

type

Item

label

pontocerebellar hypoplasia type 6

@en

altLabel

Encephalopathy fatal infantile with mitochondrial respiratory chain defects

@en

Encephalopathy, Fatal Infantile, With Mitochondrial Respiratory Chain Defects

@en

Fatal infantile encephalopathy with mitochondrial respiratory chain defects

@en

PCH6

@en

PONTOCEREBELLAR HYPOPLASIA, TYPE 6

@en

PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6

@en

prefLabel

pontocerebellar hypoplasia type 6

@en

P1550

166073

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

P2293

RARS2

P279

non-syndromic pontocerebellar hypoplasia

nervous system heredodegenerative disease

mitochondrial disorder due to a defect in mitochondrial protein synthesis

P2888

DOID:0060275

DOID_0060275

Orphanet_166073

P2892

C1969084

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

P31

Banaw

developmental defect during embryogenesis

rare disease

P4229

Q04.3

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

P4317

10710

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

P486

C548074

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

P492

611523

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

P5270

MONDO:0012683

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

P699

DOID:0060275

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