Filtering
- Neurotoxicity Syndromes
- Neutral Lipid Storage Disease With Myopathy
- Nevoid Basal Cell Carcinoma Syndrome
- New Daily-persistent Headache
- Nicolaides-Baraitser Syndrome
- Niemann-Pick Disease
- Niemann-Pick Disease Type A
- Niemann-Pick Disease Type B
- Niemann-Pick Disease Type C1
- Nijmegen Breakage Syndrome
- Nodding Syndrome
- Nodular Melanoma
- Nodular Regenerative Hyperplasia
- Non 24 Hour Sleep Wake Disorder
- Nonbullous Congenital Ichthyosiform Erythroderma
- Nondystrophic Myotonia
- Non Functioning Pancreatic Endocrine Tumor
- Non-Langerhans-Cell Histiocytosis
- Nonseminomatous Germ Cell Tumor
- Nontuberculous Mycobacterial Lung Disease
- Noonan Syndrome
- Norrie Disease
- Occipital Horn Syndrome
- Ochronosis
- Ocular Cicatricial Pemphigoid
- Ocular Melanoma
- Ocular Muscular Dystrophy
- Ocular Toxoplasmosis
- Oculocerebral Syndrome With Hypopigmentation
- Oculocutaneous Albinism
- Oculopharyngeal Muscular Dystrophy
- Ogilvie Syndrome
- Olfactory Neuroblastoma
- Oligoastrocytoma
- Oligodendroglioma
- Olivopontocerebellar Atrophy
- Ollier Disease
- Omenn Syndrome
- Onchocerciasis
- Oncogenic Osteomalacia
- Opisthorchiasis
- Opsoclonus-myoclonus Syndrome
- Optic Atrophy 1
- Optic Neuritis
- Optic Pathway Glioma
- Oral Cancer
- Oral Leukoplakia
- Oral Squamous Cell Carcinoma
- Oral Submucous Fibrosis
- Orbital Lymphoma
- Organic Acidemias
- Ornithine Transcarbamylase Deficiency
- Orofaciodigital Syndromes
- Oropharyngeal Cancer, Adult
- Orotic Aciduria Type 1
- Osteochondritis Dissecans
- Osteochondroma
- Osteochondrosis
- Osteofibrous Dysplasia
- Osteogenesis Imperfecta
- Osteogenesis Imperfecta Type II
- Osteogenesis Imperfecta Type III
- Osteogenesis Imperfecta Type IV
- Osteogenesis Imperfecta Type VI
- Osteomalacia
- Osteomyelitis
- Osteopetrosis
- Osteopetrosis Autosomal Dominant Type 2
- Osteoporosis-pseudoglioma Syndrome
- Osteosarcoma
- Ostium Secundum Atrial Septal Defect
- Oto-Palatal-digital Syndrome
- Oto-palato-digital Syndrome Type 1
- Ovarian Cancer
- Ovarian Carcinosarcoma
- Ovarian Epithelial Cancer
- Ovarian Germ Cell Tumor
- Ovarian Low Malignant Potential Tumor
- Ovarian Sex Cord Tumor With Annular Tubules
- Ovarian Small Cell Carcinoma
- Pachydermoperiostosis
- Pachyonychia Congenita
- Paget Disease of the Breast
- Palatopharyngeal Incompetence
- Palindromic Rheumatism
- Pallister-Hall Syndrome
- Palmoplantar Keratoderma
- Pancreatic Adenoma
- Pancreatic Cancer
- Pancreatic Neuroendocrine Tumor
- PANDAS
- Pantothenate Kinase-associated Neurodegeneration
- Panuveitis
- Papillary Glioneuronal Tumors
- Papillary Renal Cell Carcinoma
- Papillary Thyroid Carcinoma
- Papilledema
- Papillon Lefevre Syndrome
- Paragangliomas 1
- Parainfluenza Virus Type 3
- Paramyotonia Congenita
- Paraplegia
- Parapsoriasis
- Parathyroid Carcinoma
- Parkes Weber Syndrome
- Paroxysmal Hemicrania
- Paroxysmal Kinesigenic Choreoathetosis
- Paroxysmal Nocturnal Hemoglobinuria
- Paroxysmal Ventricular Fibrillation
- Parsonage Turner Syndrome
- Pars Planitis
- Partial Atrioventricular Canal
- Partial Deletion of Y
- PASLI Disease
- Patent Ductus Arteriosus
- Pattern Dystrophy
- Pauciarticular Onset Juvenile Idiopathic Arthritis
- Pearson Syndrome
- Pectus Carinatum
- Pediatric Acute-onset Neuropsychiatric Syndrome
- Pediatric Crohn's Disease
- Pediatric Multiple Sclerosis
- Pediatric Ulcerative Colitis
- Pelizaeus-Merzbacher Disease
- Pellucid Marginal Degeneration
- Pemphigus
- Pemphigus and Fogo Selvagem
- Pemphigus Foliaceus
- Pemphigus Vulgaris
- Penile Cancer
- Penis Agenesis
- Pentalogy of Cantrell
- Perilymphatic Fistula
- Peripartum Cardiomyopathy
- Peripheral T-cell Lymphoma
- Periventricular Heterotopia
- Periventricular Leukomalacia
- Permanent Neonatal Diabetes Mellitus
- Perniosis
- Peroxisomal Biogenesis Disorders
- Peroxisome Biogenesis disorder-Zellweger Syndrome Spectrum
- Persistent Genital Arousal Disorder
- Persistent Truncus Arteriosus
- Peters Anomaly
- Peutz-Jeghers Syndrome
- Pfeiffer Syndrome
- PGM1-CDG
- PHACE Syndrome
- Phenylketonuria
- Pheochromocytoma
- Phosphoglycerate Kinase Deficiency
- Phosphoglycerate Mutase Deficiency
- Photosensitive Epilepsy
- Phyllodes Tumor of the Breast
- Piebaldism
- Pierre Robin Sequence
- Pigment-dispersion Syndrome
- Pigmented Villonodular Synovitis
- PIK3CA-related Overgrowth Spectrum
- Pilocytic Astrocytoma
- Pilomatrixoma
- Pineal Germ Cell Tumor
- Pineal Parenchymal Tumors of Intermediate Differentiation
- Pineoblastoma
- Pineocytoma
- Piriformis Syndrome
- Pitt-Hopkins Syndrome
- Pituitary Cancer
- Pituitary Stalk Interruption Syndrome
- Pityriasis Lichenoides
- Pityriasis Lichenoides Chronica
- Pityriasis Rubra Pilaris
- Placenta Disorder
- Plagiocephaly
- Plasmablastic Lymphoma
- Plasma Cell Leukemia
- Plasmacytoma
- Plasminogen Activator Inhibitor Type 1 Deficiency
- Platelet Storage Pool Deficiency
- Pleomorphic Xanthoastrocytoma
- Pleuroparenchymal Fibroelastosis
- Pleuropulmonary Blastoma
- PMM2-CDG (CDG-Ia)
- Pneumocystis Jirovecii Pneumonia
- Pneumocystosis
- POEMS Syndrome
- Poliomyelitis
- Polyarteritis Nodosa
- Polyarticular Onset Juvenile Idiopathic Arthritis
- Polycystic Liver Disease
- Polycythemia Vera
- Polydactyly
- Polyembryoma
- Polymorphic Reticulosis
- Polymyositis
- Polyomavirus Allograft Nephropathy
- Pontocerebellar Hypoplasia
- Pontocerebellar Hypoplasia Type 6
- Porokeratosis of Mibelli
- Porphyria