GeneReviews
0-9 | A-B | C-D | E-F | G-H | I-J | K-L | M-N | O-P | Q-R | S-T | U-V | W-X | Y-Z
- Ocular Albinism, X-Linked
- Oculocutaneous Albinism Type 1
- Oculocutaneous Albinism Type 2
- Oculocutaneous Albinism Type 4
- Oculopharyngeal Muscular Dystrophy
- Opitz G/BBB Syndrome, X-Linked
- Optic Atrophy Type 1
- Oral-Facial-Digital Syndrome Type I
- Organic Acidemias
- OTOF-Related Deafness
- Otopalatodigital Spectrum Disorders
- Pachyonychia Congenita
- Pallister-Hall Syndrome
- Pantothenate Kinase-Associated Neurodegeneration
- Parkin Type of Early-Onset Parkinson Disease
- Parkinson Disease
- Pendred Syndrome/DFNB4
- Periventricular Heterotopia, X-Linked
- Permanent Neonatal Diabetes Mellitus
- Perry Syndrome
- Peters Plus Syndrome
- Peutz-Jeghers Syndrome
- Phelan-McDermid Syndrome
- Phenylalanine Hydroxylase Deficiency
- Phosphoribosylpyrophosphate Synthetase Superactivity
- Phosphorylase Kinase Deficiency
- PINK1 Type of Young-Onset Parkinson Disease
- Pitt-Hopkins Syndrome
- PLA2G6-Associated Neurodegeneration
- PLP1-Related Disorders
- PMM2-CDG (CDG-Ia)
- Pol III-Related Leukodystrophies
- POLG-Related Disorders
- Polycystic Kidney Disease, Autosomal Dominant
- Polycystic Kidney Disease, Autosomal Recessive
- Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy
- Polymicrogyria
- Pontocerebellar Hypoplasia Type 2 and Type 4
- Prader-Willi Syndrome
- PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia
- Primary Autosomal Recessive Microcephaly
- Primary Ciliary Dyskinesia
- Primary Congenital Glaucoma
- Primary Familial Brain Calcification
- Progressive Myoclonus Epilepsy, Lafora Type
- PROP1-Related Combined Pituitary Hormone Deficiency
- Propionic Acidemia
- Proteus Syndrome
- Prothrombin-Related Thrombophilia
- PRSS1-Related Hereditary Pancreatitis
- Pseudoachondroplasia
- Pseudohypoaldosteronism Type II
- Pseudoxanthoma Elasticum
- PTEN Hamartoma Tumor Syndrome (PHTS)
- Pyridoxine-Dependent Epilepsy
- Pyruvate Carboxylase Deficiency