Additional Disease Briefs

autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Also known as: PKDTS, chromosome 16P13.3 deletion syndrome, distal, polycystic kidney disease, infantile severe, with tuberous sclerosis, polycystic kidneys, severe infantile with tuberous sclerosis, tuberous sclerosis polycystic kidney disease contiguous gene syndrome, tuberous sclerosis/polycystic kidney disease contiguous gene syndrome

autosomal dominant popliteal pterygium syndrome

Also known as: PPS, cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies, cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies, facio-genito-popliteal syndrome, faciogenitopopliteal syndrome, popliteal pterygium syndrome, popliteal pterygium syndrome 1, popliteal pterygium syndrome, autosomal dominant, popliteal web syndrome

autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome

autosomal dominant primary microcephaly

Also known as: autosomal dominant microcephaly, autosomal dominant primary microcephaly, microcephaly (disease), autosomal dominant, microcephaly autosomal dominant, microcephaly with autosomal dominant inheritance, microcephaly, autosomal dominant

autosomal dominant prognathism

Also known as: 'Habsburg jaw', 'Hapsburg jaw', Habsburg jaw, Hapsburg jaw, prognathism mandibular, prognathism, mandibular

autosomal dominant progressive external ophthalmoplegia

Also known as: PEOA1, adPEO, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1, progressive external ophthalmoplegia, autosomal dominant

autosomal dominant progressive nephropathy with hypertension

Also known as: RFH1, nephritis, familial, without deafness or ocular defect, nephropathy, familial, nephropathy-hypertension, renal failure, adult-onset, renal failure, progressive, with hypertension

autosomal dominant proximal renal tubular acidosis

Also known as: AD pRTA, proximal renal tubular acidosis, autosomal dominant

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