congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

human disease

Wikidata entity: Q55784753



P2888 exact match Url Ontology Lookup Service (OLS) ???
P2293 genetic association ... Q17832258 (ASNS) ASNS
P31 instance of ... Q929833 (rare disease) rare disease
P31 instance of ... Q112193867 (class of disease) class of disease
P1748 NCI Thesaurus ID String C168586 ???
P279 subclass of ... Q1337418 (neurometabolic disease) neurometabolic disease
P279 subclass of ... Q55787954 (disorder of asparagine metabolism) disorder of asparagine metabolism

External Ids
P4229ICD-10-CME72.8
P665KEGG IDH01386
P5270Mondo IDMONDO_0014258
P492OMIM ID615574
P492OMIM ID615574
P1550Orphanet ID391376
P2892UMLS CUIC3809971
P11430UniProt disease IDDI-03985

Why not click here or view trends?

log id: 5559709