Diseases List
 
 
DiagnosisOmim NumberSample Count
PALLIDOPONTONIGRAL DEGENERATION 3
PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN; HALLERVORDEN-SPATZ DISEASE INCLUDED2342001
PAPULAR MUCINOSIS; GENETIC OR ACQUIRED 3
PARANA HARD-SKIN SYNDROME2605301
PARKIN; PARK26025441
PARKINSON DISEASE1686004471
PARKINSON DISEASE,FAMILIAL, TYPE 1; PARK11686016
PARKINSONISM, OTHER 15
PAROXYSMAL EXERCISE INDUCED DYSTONIA 1
PEARSON MARROW-PANCREAS SYNDROME5570002
PELIZAEUS-MERZBACHER DISEASE; PMD31208025
PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY2615154
PETERS-PLUS SYNDROME2615401
PFEIFFER SYNDROME1016001
PHENYLKETONURIA26160013
PHOSPHOGLYCERATE KINASE 1; PGK13118004
PICK DISEASE OF BRAIN1727001
PIEBALD TRAIT; PBT1728001
PITT-HOPKINS SYNDROME; PTHS 9
POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; PKHD12632001
POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; PKHD12632003
POLYCYSTIC KIDNEYS1739007
POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II, MAJEWSKI TYPE2635202
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE; BARTSOCAS-PAPAS SYNDROME; BPS2636501
PORPHYRIA - COPROPORPHYRIA1213002
PORPHYRIA CUTANEA TARDA17610011
PORPHYRIA VARIEGATA1762001
PORPHYRIA, ACUTE INTERMITTENT17600022
PORPHYRIA, CONGENITAL ERYTHROPOIETIC2637004
PRADER-WILLI SYNDROME; PWS17627055
PRIMARY LATERAL SCLEROSIS 126
PROGERIA, ADULT ONSET 3
PROGEROID SYNDROME, NEONATAL2640903
PROGRESSIVE BULBAR PALSY 10
PROGRESSIVE MUSCULAR ATROPHY 100
PROGRESSIVE SUPRANUCLEAR PALSY601104377
PROPIONIC ACIDEMIA60605452
PROSTATE CANCER1768073
PROTEASE INHIBITOR 1; PI10740010
PROTEUS SYNDROME1769205
PROTOPORPHYRIA, ERYTHROPOIETIC1770004
PRUNE BELLY SYNDROME; PBS1001001
PSEUDOACHONDROPLASTIC DYSPLASIA1771701
PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA1778501
PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA2643001
PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A1035805
PSEUDONEONATAL ADRENOLEUKODYSTROPHY2644706
PSEUDOTRISOMY 13 SYNDROME (HOLOPROSENCEPHALY-POLYDACTYLY SYNDROME)2644801
PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH2646001
PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE2648001
PTERYGIUM OF CONJUNCTIVA AND CORNEA1780002
PYROGLUTAMICACIDURIA2661302
PYRUVATE CARBOXYLASE DEFICIENCY2661502
PYRUVATE DECARBOXYLASE DEFICIENCY3121702