leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter

Wikidata entity: Q55345816

P2888 exact match Url Ontology Lookup Service (OLS) ???
P2293 genetic association ... Q18041605 (DARS2) DARS2
P31 instance of ... Q112193867 (class of disease) class of disease
P31 instance of ... Q929833 (rare disease) rare disease
P31 instance of ... Q55788864 (developmental defect during embryogenesis) developmental defect during embryogenesis
P1748 NCI Thesaurus ID String C188991 ???
P279 subclass of ... Q18987134 (combined oxidative phosphorylation deficiency) combined oxidative phosphorylation deficiency
P279 subclass of ... Q19001236 (nervous system heredodegenerative disease) nervous system heredodegenerative disease
P279 subclass of ... Q55785813 (syndromic neurometabolic disease with non-X-linked intellectual disability) syndromic neurometabolic disease with non-X-linked intellectual disability
P279 subclass of ... Q55785846 (rare genetic developmental defect during embryogenesis) rare genetic developmental defect during embryogenesis
External Ids
P4317GARD rare disease ID12652
P7464Genetics Home Reference Conditions IDleukoencephalopathy-with-brainstem-and-spinal-cord-involvement-and-lactate-elevation
P4229ICD-10-CME75.2
P665KEGG IDH00871
P5270Mondo IDMONDO_0012622
P492OMIM ID611105
P492OMIM ID611105
P1550Orphanet ID137898
P2892UMLS CUIC1970180
P11430UniProt disease IDDI-01899

Why not click here or view trends?

log id: 5154173