Id http://purl.bioontology.org/ontology/CSP/1849-4292
http://purl.bioontology.org/ontology/CSP/1849-4292
Preferred Name

hereditary hemochromatosis
Definitions
disorder due to the deposition of hemosiderin in the parenchymal cells, causing tissue damage and dysfunction of the liver, pancreas, heart, and pituitary; full development of the disease in women is restricted by menstruation, pregnancy, and lower dietary intake of iron; an autosomal recessive disorder of metabolism associated with a gene tightly linked to the A locus of the HLA complex on chromosome 6.
Synonyms
diabetes bronze
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

disorder due to the deposition of hemosiderin in the parenchymal cells, causing tissue damage and dysfunction of the liver, pancreas, heart, and pituitary; full development of the disease in women is restricted by menstruation, pregnancy, and lower dietary intake of iron; an autosomal recessive disorder of metabolism associated with a gene tightly linked to the A locus of the HLA complex on chromosome 6.
altLabel
diabetes bronze
prefLabel
hereditary hemochromatosis
Inverse of RO
type
tui
T047
notation
1849-4292
Semantic type UMLS property
DID
1849-4292
cui
C0018995
C0392514
Inverse of RB
subClassOf
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