pyridoxine-dependent epilepsy

extremely rare disorder

Wikidata entity: Q7263591



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 ... Q17833695 (ALDH7A1) ALDH7A1
P2293 genetic association ... Q18036401 (PLPBP) PLPBP
P1995 health specialty ... Q83042 (neurology) neurology
P31 instance of ... Q929833 (rare disease) rare disease
P31 instance of ... Q112193867 (class of disease) class of disease
P279 subclass of ... Q41571 (epilepsy) epilepsy
P279 subclass of ... Q1337418 (neurometabolic disease) neurometabolic disease
P279 subclass of ... Q10267817 (autosomal recessive disease) autosomal recessive disease
P279 subclass of ... Q55785842 (rare genetic epilepsy) rare genetic epilepsy
P279 subclass of ... Q55786199 (metabolic neurotransmission anomaly with epilepsy) metabolic neurotransmission anomaly with epilepsy
P279 subclass of ... Q55788558 (disorder of pyridoxine metabolism) disorder of pyridoxine metabolism

External Ids
P699Disease Ontology IDDOID:0080768
P673eMedicine ID985667
P4317GARD rare disease ID9298
P7464Genetics Home Reference Conditions IDpyridoxine-dependent-epilepsy
P4229ICD-10-CMG40.8
P7807ICD-11 ID (Foundation)1632334328
P7329ICD-11 ID (MMS)8A61.00
P665KEGG IDH01247
P486MeSH descriptor IDC536254
P6366Microsoft Academic ID (discontinued)2779644819
P5270Mondo IDMONDO_0009945
P492OMIM ID266100
P492OMIM ID266100
P1550Orphanet ID3006
P2892UMLS CUIC1291560
P2892UMLS CUIC1849508
P11430UniProt disease IDDI-02236

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