hemochromatosis type 5

hemochromatosis that has material basis in heterozygous mutation in the FTH1 gene on chromosome 11q12

Wikidata entity: Q32146288



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) ???
P2888 exact match Url Ontology Lookup Service (OLS) ???
P2293 genetic association ... Q17930834 (FTH1) FTH1
P31 instance of ... Q929833 (rare disease) rare disease
P31 instance of ... Q112193867 (class of disease) class of disease
P5008 on focus list of Wikimedia project ... Q4099686 (WikiProject Medicine) WikiProject Medicine
P279 subclass of ... Q200779 (genetic disease) genetic disease
P279 subclass of ... Q3144934 (hereditary haemochromatosis) hereditary haemochromatosis

External Ids
P699Disease Ontology IDDOID:0111031
P4317GARD rare disease ID13472
P2671Google Knowledge Graph ID/g/11fr16jjwl
P4229ICD-10-CME83.1
P486MeSH descriptor IDC565020
P5270Mondo IDMONDO_0014225
P492OMIM ID615517
P492OMIM ID615517
P1550Orphanet ID247790
P1550Orphanet ID447792
P2892UMLS CUIC1851316
P2892UMLS CUICN181217
P11430UniProt disease IDDI-03942

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log id: 5867478