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Hereditary North American Indian childhood cirrhosis
Disease definition
Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.
ORPHA:168583
- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: K74.6
- OMIM: 604901
- UMLS: C1858051
- MeSH: -
- GARD: -
- MedDRA: -
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