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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H02695 | Fibrosis, neurodegeneration, and cerebral angiomatosis | ... malabsorption, growth failure, recurrent infections, hemolytic anemia, liver dysfunction, and lung fibrosis that leads to respiratory failure and death. It has been reported that mutations in NHLRC2 cause FINCA. | Congenital malformation | NHLRC2 [HSA:374354] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |