Additional Disease Briefs

obsolete c12orf65-related combined oxidative phosphorylation defect

Also known as: C12ORF65-related COXPD

obsolete epidermolysis bullosa simplex with extracutaneous involvement

Also known as: EBS with extracutaneous involvement

obsolete inherited cardiac tumor

Also known as: genetic cardiac tumor, genetic cardiac tumour, genetic heart tumor, genetic heart tumour, hereditary heart neoplasm

obsolete isolated anorectal malformation

Also known as: nonsyndromic anorectal malformation

obsolete isolated punctate palmoplantar keratoderma

Also known as: isolated punctate PPK, isolated punctate palmoplantar hyperkeratosis, nonsyndromic punctate palmoplantar keratoderma

obsolete Leigh syndrome with leukodystrophy

Also known as: Leigh disease with leukodystrophy, infantile subacute necrotizing encephalopathy with leukodystrophy

obsolete Leigh syndrome with nephrotic syndrome

Also known as: Leigh disease with nephrotic syndrome, infantile subacute necrotizing encephalopathy with nephrotic syndrome

obsolete macrophage or histiocytic tumor

obsolete myoclonic epilepsy, progressive, X-linked

Also known as: myoclonic epilepsy, progressive

obsolete periodic paralysis with transient compartment-like syndrome