childhood encephalopathy due to thiamine pyrophosphokinase deficiency

human disease

Wikidata entity: Q55784328



P2888 exact match Url Ontology Lookup Service (OLS) ???
P2293 genetic association ... Q18038550 (TPK1) TPK1
P31 instance of ... Q112193867 (class of disease) class of disease
P31 instance of ... Q929833 (rare disease) rare disease
P279 subclass of ... Q12136 (disease) disease

External Ids
P4317GARD rare disease ID13571
P665KEGG IDH01567
P5270Mondo IDMONDO_0013761
P492OMIM ID614458
P492OMIM ID614458
P1550Orphanet ID293955
P2892UMLS CUIC3280866
P11430UniProt disease IDDI-03377

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