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Obesity, MC4R-Related Tests OMIM
Obesity, PPARG-Related Tests OMIM
Obesity, PYY-Related Tests OMIM
Obesity, SIM1-Related Tests OMIM
Obesity, Susceptibility to, CARTPT-Related Tests OMIM
Obesity, Susceptibility to, MC3R-Related Tests OMIM
Obesity, UCP3-Related Tests OMIM
Occult Macular Dystrophy Tests OMIM
Ocular Albinism, X-Linked Tests GeneReview OMIM
Oculocutaneous Albinism Type 1 Tests GeneReview OMIM
Oculocutaneous Albinism Type 1A
Oculocutaneous Albinism Type 1B
Oculocutaneous Albinism Type 2 Tests GeneReview OMIM
Brown OCA
Oculocutaneous Albinism Type 3 Tests OMIM
Oculocutaneous Albinism Type 4 Tests GeneReview OMIM
Oculodentodigital Dysplasia Tests OMIM
Oculopharyngeal Muscular Dystrophy Tests GeneReview OMIM
Odontoonychodermal Dysplasia Tests OMIM
Ogden Syndrome Tests OMIM
Oguchi Disease 1 Tests OMIM
Oguchi Disease 2 Tests OMIM
Oligodontia-Colorectal Cancer Syndrome Tests OMIM
Omenn Syndrome Tests OMIM
Omodysplasia 1 Tests OMIM
Opitz G/BBB Syndrome, X-Linked Tests GeneReview OMIM
Opsismodysplasia OMIM
Optic Atrophy Type 1 Tests GeneReview OMIM
Optic Atrophy Type 1 and Deafness Tests OMIM
Optic Atrophy Type 3 Tests OMIM
Optic Atrophy Type 7 Tests OMIM
Oral-Facial-Digital Syndrome Type I Tests GeneReview OMIM
Organic Acidemias GeneReview
Ornithine Aminotransferase Deficiency Tests OMIM
Orotic Aciduria Tests OMIM
Osseus Heteroplasia, Progressive Tests OMIM
Osteogenesis Imperfecta Tests OMIM
BMP1-Related Osteogenesis Imperfecta Tests OMIM
Osteogenesis Imperfecta Type XIII
COL1A1/2-Related Osteogenesis Imperfecta Tests GeneReview OMIM
Classic Non-deforming Osteogenesis Imperfecta with Blue Sclerae OMIM
Common Variable Osteogenesis Imperfecta with Normal Sclerae OMIM
Perinatally Lethal Osteogenesis Imperfecta OMIM
Progressively Deforming Osteogenesis Imperfecta OMIM
CRTAP-Related Osteogenesis Imperfecta Tests OMIM
Osteogenesis Imperfecta Type VII OMIM
FKBP10-Related Osteogenesis Imperfecta Tests OMIM
Osteogenesis Imperfecta Type XI OMIM
IFITM5-Related Osteogenesis Imperfecta Tests OMIM
Osteogenesis Imperfecta Type V OMIM
LEPRE1-Related Osteogenesis Imperfecta Tests OMIM
Osteogenesis Imperfecta Type VIII OMIM
PPIB-Related Osteogenesis Imperfecta Tests OMIM
Osteogenesis Imperfecta Type IX OMIM
SERPINF1-Related Osteogenesis Imperfecta Tests OMIM
Osteogenesis Imperfecta Type VI OMIM
SERPINH1-Related Osteogenesis Imperfecta Tests OMIM
Osteogenesis Imperfecta Type X OMIM
SP7-Related Osteogenesis Imperfecta Tests OMIM
Osteogenesis Imperfecta Type XII OMIM
Osteoglophonic Dysplasia Tests OMIM
Osteopathia Striata with Cranial Sclerosis Tests OMIM
Osteopetrosis with Renal Tubular Acidosis Tests OMIM
Osteoporosis Pseudoglioma Syndrome Tests OMIM
OSTM1-Related Autosomal Recessive Osteopetrosis Tests OMIM
Otodental Dysplasia Tests OMIM
Otofaciocervical Syndrome Tests OMIM
Otospondylomegaepiphyseal Dysplasia Tests OMIM
OTX2-Related Combined Pituitary Hormone Deficiency Tests OMIM
Ovalocytosis, Southeast Asian Tests OMIM
Ovarian Dysgenesis 1 Tests OMIM
Ovarian Dysgenesis 2 Tests OMIM
Ovarian Hyperstimulation Syndrome Tests OMIM
Pachyonychia Congenita GeneReview OMIM
KRT16-Related Pachyonychia Congenita Tests OMIM
KRT17-Related Pachyonychia Congenita Tests OMIM
KRT6A-Related Pachyonychia Congenita Tests OMIM
KRT6B-Related Pachyonychia Congenita Tests OMIM
Paget Disease of Bone Tests OMIM
Paget Disease, Juvenile Tests OMIM
PALB2-Related Cancer Susceptibility Tests OMIM
Pallister-Killian Syndrome Tests OMIM
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques Tests OMIM
Pancreatic Agenesis and Congenital Heart Defects Tests OMIM
Pancreatic Cancer Susceptibility 1 Tests OMIM
Pancreatic Cancer Susceptibility 2 Tests OMIM
Pancreatic Cancer Susceptibility 3 Tests OMIM
Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia, with or without Tracheoesophageal Fistula Tests OMIM
Papillary Renal Carcinoma Tests OMIM
Papillon-Lefevre Syndrome Tests OMIM
Paramyotonia Congenita of Von Eulenburg Tests OMIM
Parkinson Disease GeneReview OMIM
FBXO7-Related Parkinson Disease Tests OMIM
HTRA2-Related Parkinson Disease Tests OMIM
LRRK2-Related Parkinson Disease Tests GeneReview OMIM
PARK7-Related Parkinson Disease Tests OMIM
Parkin Type of Early-Onset Parkinson Disease Tests GeneReview OMIM
PINK1 Type of Young-Onset Parkinson Disease Tests GeneReview OMIM
SNCA-Related Parkinson Disease Tests OMIM
VPS35-Related Parkinson Disease OMIM
Parkinson Disease Multi-Gene Panels Tests
Parkinson Disease, Susceptibility to Tests OMIM
Parkinsonism-Dystonia, Infantile Tests OMIM
Paroxysmal Extreme Pain Disorder Tests OMIM
Paroxysmal Familial Ventricular Fibrillation 1 Tests OMIM
Partial Isolated Growth Hormone Deficiency Tests OMIM
Paternal Uniparental Disomy, Chromosome 14 Tests OMIM
Patterned Dystrophy of Retinal Pigment Epithelium Tests OMIM
Peeling Skin Syndrome Tests OMIM
Peeling Skin Syndrome, Acral Type Tests OMIM
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Tests OMIM
Periventricular Heterotopia, Autosomal Recessive Tests OMIM
Perlman Syndrome Tests OMIM
Permanent Neonatal Diabetes Mellitus GeneReview OMIM
ABCC8-Related Permanent Neonatal Diabetes Mellitus Tests OMIM
GCK-Related Permanent Neonatal Diabetes Mellitus Tests OMIM
INS-Related Permanent Neonatal Diabetes Mellitus OMIM
KCNJ11-Related Permanent Neonatal Diabetes Mellitus OMIM
PDX1-Related Permanent Neonatal Diabetes Mellitus Tests OMIM
Peroxisomal Bifunctional Enzyme Deficiency Tests OMIM
Peroxisome Biogenesis Disorders (PBD) OMIM
Rhizomelic Chondrodysplasia Punctata Spectrum
Rhizomelic Chondrodysplasia Punctata Type 1 Tests GeneReview OMIM
Rhizomelic Chondrodysplasia Punctata Type 2 Tests OMIM
Rhizomelic Chondrodysplasia Punctata Type 3 Tests OMIM
Zellweger Syndrome Spectrum Tests GeneReview OMIM
Neonatal Adrenoleukodystrophy
Refsum Disease, Infantile
Zellweger Syndrome
Peroxisome Biogenesis Disorders Multi-Gene Panels Tests
Perrault Syndrome Tests OMIM
Perry Syndrome Tests GeneReview OMIM
Persistent Mullerian Duct Syndrome, Type I Tests OMIM
Peters Anomaly Tests OMIM
Peters Plus Syndrome Tests GeneReview OMIM
Peutz-Jeghers Syndrome Tests GeneReview OMIM
Phelan-McDermid Syndrome Tests GeneReview OMIM
Phenylalanine Hydroxylase Deficiency Tests GeneReview OMIM
Hyperphenylalaninemia
Phenylketonuria
Variant PKU
Phosphoenolpyruvate Carboxykinase Deficiency Tests OMIM
Phosphoglycerate Dehydrogenase Deficiency Tests OMIM
Phosphoglycerate Kinase 1 Deficiency Tests OMIM
Phosphorylase Kinase Deficiency Tests GeneReview OMIM
Liver Phosphorylase Kinase Deficiency
PHKA2-Related Phosphorylase Kinase Deficiency Tests OMIM
X-linked Liver Glycogenosis Type 1
X-linked Liver Glycogenosis Type 2
PHKB-Related Phosphorylase Kinase Deficiency Tests OMIM
PHKG2-Related Phosphorylase Kinase Deficiency Tests OMIM
Muscle Phosphorylase Kinase Deficiency
PHKA1-Related Phosphorylase Kinase Deficiency Tests OMIM
PHKB-Related Phosphorylase Kinase Deficiency Tests OMIM
Phosphoserine Aminotransferase Deficiency Tests OMIM
Phosphoserine Phosphatase Deficiency Tests OMIM
Piebald Trait, KIT-Related Tests OMIM
Piebald Trait, SNAI2-Related Tests OMIM
Pierson Syndrome Tests OMIM
Pigmented Paravenous Chorioretinal Atrophy Tests OMIM
PIK3CA-Related Segmental Overgrowth OMIM
CLOVES Syndrome OMIM
PIK3CA-Related Fibroadipose Hyperplasia OMIM
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities Tests OMIM
Pitt-Hopkins Syndrome Tests GeneReview OMIM
Pitt-Hopkins-Like Syndrome 1 Tests OMIM
Pitt-Hopkins-Like Syndrome 2 Tests OMIM
Pituitary Dwarfism II Tests OMIM
PITX1-Related Congenital Clubfoot Tests OMIM
Pityriasis Rubra Pilaris Tests OMIM
Plasminogen Activator Inhibitor-1 Deficiency Tests OMIM
Platelet Glycoprotein IV Deficiency Tests OMIM
PLEKHM1-Related Autosomal Recessive Osteopetrosis Tests OMIM
Pleuropulmonary Blastoma Tests OMIM
PLP1-Related Disorders Tests GeneReview OMIM
Pelizaeus-Merzbacher Disease
Spastic Paraplegia 2
PNPLA3-Related Susceptibility to Nonalchoholic Fatty Liver Disease Tests OMIM
Poikiloderma with Neutropenia Tests OMIM
Pol III-Related Leukodystrophies Tests GeneReview OMIM
POLG-Related Disorders Tests GeneReview OMIM
Alpers-Huttenlocher Syndrome OMIM
Autosomal Dominant Progressive External Ophthalmoplegia OMIM
Autosomal Recessive Progressive External Ophthalmoplegia OMIM
Childhood Myocerebrohepatopathy Spectrum Disorders OMIM
Myoclonic Epilepsy Myopathy Sensory Ataxia OMIM
POLG-Related Ataxia Neuropathy Spectrum Disorders OMIM
Polycystic Kidney Disease, Autosomal Dominant GeneReview OMIM
Polycystic Kidney Disease 1, Autosomal Dominant Tests OMIM
Polycystic Kidney Disease 2, Autosomal Dominant Tests OMIM
Polycystic Kidney Disease, Autosomal Recessive Tests GeneReview OMIM
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy GeneReview OMIM
TREM2-Related Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Tests OMIM
TYROBP-Related Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Tests OMIM
Polycystic Liver Disease Tests OMIM
Polymicrogyria Tests GeneReview OMIM
Polymicrogyria with Optic Nerve Hypoplasia Tests OMIM
Polymicrogyria, Asymmetric Tests OMIM
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract Tests OMIM
Pontocerebellar Hypoplasia Type 1A Tests OMIM
Pontocerebellar Hypoplasia Type 2 and Type 4 GeneReview OMIM
TSEN2-Related Pontocerebellar Hypoplasia Tests OMIM
TSEN34-Related Pontocerebellar Hypoplasia Tests OMIM
TSEN54-Related Pontocerebellar Hypoplasia Tests OMIM
Pontocerebellar Hypoplasia Type 2D Tests OMIM
Pontocerebellar Hypoplasia Type 6 Tests OMIM
Pontocerebellar Hypoplasia, Type 1B Tests OMIM
Popliteal Pterygium Syndrome, Lethal Type Tests OMIM
Porencephaly 2 Tests OMIM
Postaxial Acrofacial Dysostosis Tests OMIM
Posterior Column Ataxia with Retinitis Pigmentosa Tests OMIM
Posterior Polar Cataract 2 OMIM
Potocki-Shaffer Syndrome Tests OMIM
POU1F1-Related Combined Pituitary Hormone Deficiency Tests OMIM
Prader-Willi Syndrome GeneReview OMIM
Prader-Willi-Like Syndrome Associated with Chromosome 6 Tests OMIM
Premature Ovarian Failure 2A Tests OMIM
Premature Ovarian Failure 2B Tests OMIM
Premature Ovarian Failure 5 Tests OMIM
Premature Ovarian Failure 6 Tests OMIM
Premature Ovarian Failure 7 Tests OMIM
PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia Tests GeneReview OMIM
Primary Autosomal Recessive Microcephaly GeneReview OMIM
Primary Autosomal Recessive Microcephaly Type 1 Tests OMIM
Primary Autosomal Recessive Microcephaly Type 2 Tests OMIM
Primary Autosomal Recessive Microcephaly Type 3 Tests OMIM
Primary Autosomal Recessive Microcephaly Type 4 Tests OMIM
Primary Autosomal Recessive Microcephaly Type 5 Tests OMIM
Primary Autosomal Recessive Microcephaly Type 6 Tests OMIM
Primary Autosomal Recessive Microcephaly Type 7 Tests OMIM
Primary Autosomal Recessive Microcephaly Type 8 Tests OMIM
Primary Autosomal Recessive Microcephaly Type 9 Tests OMIM
Primary Autosomal Recessive Microcephaly and Microcephalic Dwarfism Multi-Gene Panels Tests
Primary Ciliary Dyskinesia GeneReview OMIM
Primary Ciliary Dyskinesia 1: DNAI1-Related Primary Ciliary Dyskinesia Tests OMIM
Primary Ciliary Dyskinesia 2: DNAAF3-Related Primary Ciliary Dyskinesia OMIM
Primary Ciliary Dyskinesia 3: DNAH5-Related Primary Ciliary Dyskinesia Tests OMIM
Primary Ciliary Dyskinesia 4 OMIM
Primary Ciliary Dyskinesia 5: HYDIN-Related Primary Ciliary Dyskinesia OMIM
Primary Ciliary Dyskinesia 6: NME8-Related Primary Ciliary Dyskinesia Tests OMIM
Primary Ciliary Dyskinesia 7: DNAH11-Related Primary Ciliary Dyskinesia Tests OMIM
Primary Ciliary Dyskinesia 8 OMIM
Primary Ciliary Dyskinesia 9: DNAI2-Related Primary Ciliary Dyskinesia Tests OMIM
Primary Ciliary Dyskinesia10: DNAAF2-Related Primary Ciliary Dyskinesia Tests OMIM
Primary Ciliary Dyskinesia11: RSPH4A-Related Primary Ciliary Dyskinesia Tests OMIM
Primary Ciliary Dyskinesia12: RSPH9-Related Primary Ciliary Dyskinesia Tests OMIM
Primary Ciliary Dyskinesia13: DNAAF1-Related Primary Ciliary Dyskinesia Tests OMIM
Primary Ciliary Dyskinesia14: CCDC39-Related Primary Ciliary Dyskinesia Tests OMIM
Primary Ciliary Dyskinesia15: CCDC40-Related Primary Ciliary Dyskinesia Tests OMIM
Primary Ciliary Dyskinesia16: DNAL1-Related Primary Ciliary Dyskinesia Tests OMIM
Primary Ciliary Dyskinesia17: CCDC103-Related Primary Ciliary Dyskinesia Tests OMIM
Primary Ciliary Dyskinesia18: HEATR2-Related Primary Ciliary Dyskinesia OMIM
Primary Ciliary Dyskinesia19: LRRC6-Related Primary Ciliary Dyskinesia Tests OMIM
Primary Ciliary Dyskinesia Multi-Gene Panels Tests
Primary Congenital Glaucoma GeneReview OMIM
CYP1B1-Related Primary Congenital Glaucoma Tests OMIM
LTBP2-Related Primary Congenital Glaucoma Tests OMIM
Primary Familial Brain Calcification GeneReview OMIM
Primary Familial Brain Calcification 1 OMIM
Primary Familial Brain Calcification 2 OMIM
Primary Familial Brain Calcification 3 Tests OMIM
Primary Familial Brain Calcification 4 OMIM
Primary Hypertrophic Osteoarthropathy, Autosomal Recessive Tests OMIM
Primary Hypomagnesemia Tests OMIM
Primary Open Angle Glaucoma (Adult Onset) Tests OMIM
Progeroid Laminopathies Tests OMIM
Hutchinson-Gilford Progeria Syndrome GeneReview OMIM
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 2 Tests OMIM
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 3 Tests OMIM
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 4 Tests OMIM
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 5 Tests OMIM
Progressive Familial Heart Block, Type IB Tests OMIM
Progressive Familial Intrahepatic Cholestasis 3 Tests OMIM
Progressive Myoclonic Epilepsy 3 with or without Intracellular Inclusions Tests OMIM
Progressive Myoclonic Epilepsy 5 Tests OMIM
Progressive Myoclonic Epilepsy 6 Tests OMIM
Progressive Myoclonus Epilepsy, Lafora Type GeneReview OMIM
EPM2A-Related Lafora Disease Tests OMIM
NHLRC1-Related Lafora Disease Tests OMIM
Progressive Pseudorheumatoid Arthropathy of Childhood Tests OMIM
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome Tests OMIM
PROP1-Related Combined Pituitary Hormone Deficiency Tests GeneReview OMIM
Properdin Deficiency, X-Linked Tests OMIM
Propionic Acidemia Tests GeneReview OMIM
PCCA-Related Propionic Acidemia Tests OMIM
PCCB-Related Propionic Acidemia Tests OMIM
Prostate Cancer Tests OMIM
Proteus Syndrome Tests GeneReview OMIM
Prothrombin Deficiency Tests OMIM
Proximal Renal Tubular Acidosis with Ocular Abnormalities Tests OMIM
Proximal Symphalangism Tests OMIM
PRPH2-Related Adult-Onset Vitelliform Macular Dystrophy Tests OMIM
PRPH2-Related Cone-Rod Dystrophy Tests OMIM
PRPH2-Related Fundus Albipunctatus Tests OMIM
PRPS1-Related Disorders Tests OMIM
Arts Syndrome GeneReview OMIM
DFNX1 Nonsyndromic Hearing Loss and Deafness OMIM
Phosphoribosylpyrophosphate Synthetase Superactivity GeneReview OMIM
PRPS1-Related Charcot-Marie-Tooth Neuropathy X Type 5 OMIM
Pseudo-von Willebrand Disease Tests OMIM
Pseudoachondroplasia Tests GeneReview OMIM
Pseudohypoaldosteronism Type 1, Dominant Tests OMIM
Pseudohypoaldosteronism Type 1, Recessive Tests OMIM
Pseudohypoaldosteronism Type II GeneReview OMIM
Pseudohypoaldosteronism Type IIB Tests OMIM
Pseudohypoaldosteronism Type IIC Tests OMIM
Pseudohypoaldosteronism Type IID OMIM
Pseudohypoaldosteronism Type IIE OMIM
Pseudohypoparathyroidism Type IA Tests OMIM
Pseudohypoparathyroidism Type IB Tests OMIM
Pseudoinflammatory Fundus Dystrophy Tests OMIM
Pseudoneonatal Adrenoleukodystrophy Tests OMIM
Pseudoxanthoma Elasticum Tests GeneReview OMIM
Psoriasis Susceptibility 2 Tests OMIM
PTEN Hamartoma Tumor Syndrome (PHTS) Tests GeneReview OMIM
Bannayan-Riley-Ruvalcaba Syndrome OMIM
Cowden Syndrome OMIM
Proteus-like Syndrome
PTEN-Related Proteus Syndrome
Pulmonary Surfactant Metabolism Dysfunction OMIM
ABCA3-Related Pulmonary Surfactant Metabolism Dysfunction Tests OMIM
CSF2RA-Related Pulmonary Surfactant Metabolism Dysfunction Tests OMIM
SFTPB-Related Pulmonary Surfactant Metabolism Dysfunction Tests OMIM
SFTPC-Related Pulmonary Surfactant Metabolism Dysfunction Tests OMIM
Purine Nucleoside Phosphorylase Deficiency Tests OMIM
Pycnodysostosis Tests OMIM
PYCR1-Related Cutis Laxa Tests OMIM
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Tests OMIM
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency Tests OMIM
Pyridoxine-Dependent Epilepsy Tests GeneReview OMIM
Pyridoxine-Refractory Sideroblastic Anemia, Autosomal Recessive Tests OMIM
Pyruvate Carboxylase Deficiency Tests GeneReview OMIM
Pyruvate Dehydrogenase Complex Deficiency Tests OMIM
Dihydrolipoamide Dehydrogenase E3 Deficiency Tests OMIM
Pyruvate Dehydrogenase E1-Alpha Deficiency Tests OMIM
Pyruvate Dehydrogenase E1-Beta Deficiency Tests OMIM
Pyruvate Dehydrogenase E2 Deficiency Tests OMIM
Pyruvate Dehydrogenase E3-Binding Protein Deficiency Tests OMIM
Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency Tests OMIM
Pyruvate Dehydrogenase Phosphatase Deficiency Tests OMIM
Pyruvate Kinase Deficiency Tests OMIM