Diagnosis | Omim Number | Sample Count |
PALLIDOPONTONIGRAL DEGENERATION | | 3 |
PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN; HALLERVORDEN-SPATZ DISEASE INCLUDED | 234200 | 1 |
PAPULAR MUCINOSIS; GENETIC OR ACQUIRED | | 3 |
PARANA HARD-SKIN SYNDROME | 260530 | 1 |
PARKIN; PARK2 | 602544 | 1 |
PARKINSON DISEASE | 168600 | 4519 |
PARKINSON DISEASE,FAMILIAL, TYPE 1; PARK1 | 168601 | 6 |
PARKINSONISM, OTHER | | 15 |
PAROXYSMAL EXERCISE INDUCED DYSTONIA | | 1 |
PAROXYSMAL EXTREME PAIN DISORDER; PEPD | 167400 | 1 |
PEARSON MARROW-PANCREAS SYNDROME | 557000 | 4 |
PELIZAEUS-MERZBACHER DISEASE; PMD | 312080 | 25 |
PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY | 261515 | 4 |
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A | | 1 |
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A | | 4 |
PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A | | 3 |
PEROXISOME BIOGENESIS DISORDER 7B; PBD7B | | 1 |
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A | | 1 |
PETERS-PLUS SYNDROME | 261540 | 1 |
PFEIFFER SYNDROME | 101600 | 1 |
PHENYLKETONURIA | 261600 | 14 |
PHOSPHOGLYCERATE KINASE 1 DEFICIENCY | | 4 |
PICK DISEASE OF BRAIN | 172700 | 1 |
PIEBALD TRAIT; PBT | 172800 | 1 |
PITT-HOPKINS SYNDROME; PTHS | | 34 |
POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; PKHD1 | 263200 | 1 |
POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; PKHD1 | 263200 | 3 |
POLYCYSTIC KIDNEYS | 173900 | 7 |
POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II, MAJEWSKI TYPE | 263520 | 2 |
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE; BARTSOCAS-PAPAS SYNDROME; BPS | 263650 | 1 |
PORPHYRIA - COPROPORPHYRIA | 121300 | 2 |
PORPHYRIA CUTANEA TARDA | 176100 | 11 |
PORPHYRIA VARIEGATA | 176200 | 1 |
PORPHYRIA, ACUTE HEPATIC | | 2 |
PORPHYRIA, ACUTE INTERMITTENT | 176000 | 22 |
PORPHYRIA, CONGENITAL ERYTHROPOIETIC | 263700 | 4 |
PRADER-WILLI SYNDROME; PWS | 176270 | 61 |
PRIMARY ANGLE-CLOSURE GLAUCOMA | | 1 |
PRIMARY LATERAL SCLEROSIS | | 126 |
PROGERIA, ADULT ONSET | | 3 |
PROGEROID SYNDROME, NEONATAL | 264090 | 3 |
PROGRESSIVE BULBAR PALSY | | 11 |
PROGRESSIVE MUSCULAR ATROPHY | | 101 |
PROGRESSIVE SUPRANUCLEAR PALSY | 601104 | 377 |
PROPIONIC ACIDEMIA | 606054 | 52 |
PROSTATE CANCER | 176807 | 3 |
PROTEUS SYNDROME | 176920 | 5 |
PROTHROMBIN DEFICIENCY, CONGENITAL | | 1 |
PROTOPORPHYRIA, ERYTHROPOIETIC | 177000 | 4 |
PRUNE BELLY SYNDROME; PBS | 100100 | 1 |
PSEUDOACHONDROPLASTIC DYSPLASIA | 177170 | 1 |
PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA | 264300 | 1 |
PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A | 103580 | 5 |
PSEUDONEONATAL ADRENOLEUKODYSTROPHY | 264470 | 6 |
PSEUDOTRISOMY 13 SYNDROME (HOLOPROSENCEPHALY-POLYDACTYLY SYNDROME) | 264480 | 1 |
PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH | 264600 | 1 |
PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE | 264800 | 1 |
PTERYGIUM OF CONJUNCTIVA AND CORNEA | 178000 | 2 |
PYROGLUTAMICACIDURIA | 266130 | 2 |
PYRUVATE CARBOXYLASE DEFICIENCY | 266150 | 2 |
PYRUVATE DECARBOXYLASE DEFICIENCY | 312170 | 2 |