Additional Disease Briefs

patterned macular dystrophy 2

Also known as: CTNNA1 patterned macular dystrophy, MDPT2, butterfly-shaped pigmentary maculary dystrophy 2, macular dystrophy, butterfly-Shaped pigmentary, 2, macular dystrophy, patterned, 2, macular dystrophy, patterned, type 2, patterned macular dystrophy caused by mutation in CTNNA1, patterned macular dystrophy type 2

patterned macular dystrophy 3

Also known as: MAPKAPK3 patterned macular dystrophy, MCRPE, MDPT3, Martinique crinkled retinal pigment epitheliopathy, macular dystrophy, patterned, 3, macular dystrophy, patterned, type 3, patterned macular dystrophy caused by mutation in MAPKAPK3, patterned macular dystrophy type 3

Patterson-Stevenson-Fontaine syndrome

Also known as: Patterson Stevenson Fontaine syndrome, Patterson-Stevenson syndrome, Patterson-Stevenson-Fontaine syndrome, split foot deformity-mandibulofacial dysostosis syndrome, split-foot deformity with ectrodactyly and mandibulofacial dysostosis, split-foot deformity with mandibulofacial dysostosis

Pauci-immune glomerulonephritis

pauci-immune glomerulonephritis with ANCA

Also known as: pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody

pauci-immune glomerulonephritis without ANCA

Also known as: antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis, pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody

PCWH syndrome

Also known as: PCWH, WS4 plus, Waardenburg-Shah syndrome, neurologic variant, neurologic Waardenburg-Shah syndrome, peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease, peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome, peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

PDA1

Also known as: PDA, PDA1, patent ductus arteriosus 1, patent ductus arteriosus, susceptibility to

Pearson syndrome

Also known as: Pearson marrow-pancreas syndrome, Pearson's marrow/pancreas syndrome, Pearson's syndrome, sideroblastic Anaemia with marrow cell vacuolization and exocrine pancreatic dysfunction, sideroblastic Anemia with marrow cell vacuolization and exocrine pancreatic dysfunction, sideroblastic anaemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly), sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)

pediatric arterial ischemic stroke

Also known as: childhood AIS, childhood arterial ischaemic stroke, childhood arterial ischemic stroke, paediatric AIS, pediatric AIS