Additional Disease Briefs

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* = NORD Rare Disease Report

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Rare Disease Database Reports Additional Rare Disease Briefs
autosomal dominant pseudohypoaldosteronism type 1

Also known as: PHA I, autosomal dominant, PHA1A, autosomal dominant PHA 1, autosomal dominant pseudohypoaldosteronism type 1, pseudohypoaldosteronism type 1 autosomal dominant, pseudohypoaldosteronism type 1, dominant, pseudohypoaldosteronism type i, autosomal dominant, pseudohypoaldosteronism, type I, autosomal dominant, renal PHA1, renal pseudohypoaldosteronism type 1

autosomal dominant Robinow syndrome 1

Also known as: DRS1, Robinow dwarfism, Robinow syndrome, autosomal dominant 1, WNT5A autosomal dominant Robinow syndrome, acral dysostosis with Facial and genital abnormalities, autosomal dominant Robinow syndrome caused by mutation in WNT5A, dysostosis acral with facial and genital abnormalities, fetal face syndrome, foetal face syndrome

autosomal dominant Robinow syndrome 2

Also known as: DRS2, DVL1 autosomal dominant Robinow syndrome, Robinow syndrome, autosomal dominant 2, Robinow syndrome, autosomal dominant type 2, autosomal dominant Robinow syndrome caused by mutation in DVL1, autosomal dominant Robinow syndrome type 2

autosomal dominant Robinow syndrome 3

Also known as: DRS3, DVL3 Robinow syndrome, Robinow syndrome caused by mutation in DVL3, Robinow syndrome, autosomal dominant 3, Robinow syndrome, autosomal dominant type 3, autosomal dominant Robinow syndrome type 3

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