Additional Disease Briefs

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Fanconi renotubular syndrome 3

Also known as: EHHADH Fanconi syndrome, FRTS3, Fanconi renotubular syndrome 3, Fanconi renotubular syndrome type 3, Fanconi syndrome caused by mutation in EHHADH



Fanconi renotubular syndrome 5

Also known as: FANCONI RENOTUBULAR SYNDROME 5, FRTS5, Fanconi Renotubular Syndrome, Acadian Variant, Fanconi renotubular syndrome 5



Farber lipogranulomatosis

Also known as: AC deficiency, FRBRL, Farber disease, Farber lipogranulomatosis, Farber's disease, N-LAURYLSPHINGOSINE deacylase deficiency, N-Laurylsphingosine deacylase deficiency, acid ceramidase deficiency, ceramidase deficiency





fatal infantile encephalocardiomyopathy

Also known as: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, fatal infantile COX deficiency, fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency, fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency, fatal infantile cytochrome C oxidase deficiency, fatal infantile encephalomyopathy