Charcot-Marie-Tooth disease dominant intermediate D

Charcot-Marie-Tooth disease intermediate type that has material basis in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23

Wikidata entity: Q27677663

P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url None ???
P2293 genetic association ... Q14912888 (MPZ) MPZ
P1995 health specialty ... Q83042 (neurology) neurology
P31 instance of ... Q112193867 (class of disease) class of disease
P31 instance of ... Q929833 (rare disease) rare disease
P5008 on focus list of Wikimedia project ... Q4099686 (WikiProject Medicine) WikiProject Medicine
P279 subclass of ... Q18553298 (Charcot-Marie-Tooth disease intermediate type) Charcot-Marie-Tooth disease intermediate type
P279 subclass of ... Q18553439 (autosomal dominant disease) autosomal dominant disease
P279 subclass of ... Q3281252 (autosomal dominant intermediate Charcot-Marie-Tooth disease) autosomal dominant intermediate Charcot-Marie-Tooth disease
External Ids
P699Disease Ontology IDDOID:0110200
P4229ICD-10-CMG60.0
P486MeSH descriptor IDC564333
P5270Mondo IDMONDO_0011909
P492OMIM ID607791
P492OMIM ID607791
P1550Orphanet ID100046
P2892UMLS CUIC1843075
P11430UniProt disease IDDI-00266

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