Additional Disease Briefs

PHGDH deficiency

Also known as: 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form, PHGDH deficiency, PHGDHD, PHOSPHOGLYCERATE dehydrogenase deficiency

PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

Also known as: Chung-Jansen syndrome, DIDOD, developmental delay, intellectual disability, obesity, and dysmorphic features

phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

Also known as: Stoll-LC)vy-Francfort syndrome, Stoll-Lévy-Francfort syndrome, Stoll-levy-Francfort syndrome, facioauriculoradial dysplasia, phocomelia ectrodactyly deafness sinus arrhythmia, phocomelia-ectrodactyly, EAR malformation, deafness, and sinus arrhythmia

phocomelia, Schinzel type

Also known as: AARRS, Al Awadi Teebi Farag syndrome, Al Awadi-Raas-Rothschild syndrome, Al-Awadi-Raas-Rothschild syndrome, Al-Awadi/Raas-Rothschild syndrome, Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome, Schinzel phocomelia syndrome, Teebi Naguib Al Awadi syndrome, absence of ulna and fibula with severe limb deficiency, aplasia/hypoplasia of limbs and pelvis, congenital absence of ulna and fibula, limb/pelvis-hypoplasia/aplasia syndrome, profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence, severe limb deficit, ulna and fibula absence of with severe limb deficiency, ulna and fibula, absence of, with severe limb deficiency

phosphoenolpyruvate carboxykinase deficiency, cytosolic

Also known as: PCK1 deficiency, cytosolic, PCKDC, PEP carboxykinase deficiency, PEPCK 1 deficiency, PEPCK deficiency, cytosolic, PEPCK1 deficiency, phosphoenolpyruvate carboxykinase deficiency, phosphoenolpyruvate carboxykinase deficiency, cytosolic, phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency, phosphoenolpyruvate carboxylase deficiency, phosphopyruvate carboxylase deficiency

phosphoribosylpyrophosphate synthetase superactivity

Also known as: PRPP synthetase superactivity, PRPS1 superactivity, gout, PRPS-related, gout, PRPS-related, X-linked recessive, phosphoribosylpyrophosphate synthetase superactivity, phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive

photosensitive epilepsy

Also known as: PSE, photogenic epilepsy, photoparoxysmal response

photosensitive occipital lobe epilepsy

Also known as: POLE

photosensitive trichothiodystrophy

Also known as: IBIDS syndrome, Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature, Tay syndrome, sulfur-deficient brittle hair syndrome, trichothiodystrophy, trichothiodystrophy with congenital ichthyosis, trichothiodystrophy with congenital ichtyosis

phrynoderma