severe neonatal-onset encephalopathy with microcephaly

human disease

Wikidata entity: Q55782469



P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P2888 exact match Url Ontology Lookup Service (OLS) ???
P2293 genetic association ... Q18028997 (MECP2) MECP2
P31 instance of ... Q112193867 (class of disease) class of disease
P31 instance of ... Q929833 (rare disease) rare disease
P1748 NCI Thesaurus ID String C132293 ???
P279 subclass of ... Q55010090 (X-linked recessive disease) X-linked recessive disease
P279 subclass of ... Q55785628 (monogenic disease with epilepsy) monogenic disease with epilepsy
P279 subclass of ... Q55789101 (neonatal epilepsy syndrome) neonatal epilepsy syndrome
P279 subclass of ... Q576349 (encephalopathy) encephalopathy

External Ids
P699Disease Ontology IDDOID:0111932
P4229ICD-10-CMQ02
P665KEGG IDH01211
P486MeSH descriptor IDC566878
P5270Mondo IDMONDO_0010397
P492OMIM ID300673
P492OMIM ID300673
P1550Orphanet ID209370
P2892UMLS CUIC1968556
P2892UMLS CUIC4749821

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