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O'Doherty Syndrome (Cutaneous Albinism Hermine Phenotype, Ermine Phenotype, Pigmentary Disorder with Hearing Loss) Obrinsky Syndrome Obstructive Uropathy Occipital Horn Syndrome (Ehlers Danlos Syndrome, Type IX) Ochoa Syndrome Ochronosis Ochronotic Arthritis Ocular Albinism Oculo-Bucco-Genital Syndrome Oculoauriculovertebral (OAV) Dysplasia/Spectrum Oculocerebral Hypopigmentation Syndrome Oculocerebrorenal (OCR) Syndrome Oculocutaneous Albinism (Albinism Oculocutaneous, Hermansky Pudlak Type; Albinism, Yellow Mutant Type; Delta-Storage Pool Disease; Hermansky Pudlak Syndrome; Kotzot Richter Syndrome) Oculodento(digital/osseous) Dysplasia Oculodigital Syndrome Oculomelic Amyoplasia (Arthrogryposis with Oculomotor Limitation and Electroretinal Abnormalities) Oculoosteocutaneous Syndrome Odontoma-Dysphagia Syndrome Ohdo Blepharophimosis Syndrome Ohdo Madokoro Sonoda Syndrome (Blepharophimosis Syndrome, Ohdo Type) Olichostenomelia Oligodactyly Oligodontia Oligohydramnios Oligophrenia Phenylpyruvica Olivopontocerebellar Atrophy (OPCA) Olivopontocerebellar Hypoplasia Ollier's Disease (Dyschondroplasia, [Multiple] Enchodromatosis, Osteochondromatosis) Omenn Disease Omphalocele Omphalopagus Ondine Curse/Syndrome (Autonomic Control, Congenital Failure of; Congenital Central Alveolar Hypoventilation) Onychoosteodysplasia Ophthalmo Acromelic Syndrome Opitz (Frais) Syndrome (BBB Syndrome, Hypertelorism Hypospadias Syndrome, Telecanthus Associated Abnormalities) Opitz Trigonocephaly Syndrome Optic-Nerve Hypoplasia Orbital Margin, Hypoplasia of Organoid Nevus Phakomatosis Ornithine Transcarbamylase (OTC) Deficiency (Ornithine Carbamoyltransferase Deficiency) Orocraniodigital Syndrome Orofaciodigital Syndrome Orotic Aciduria(, Hereditary) (Orotidylic Decarboxylase Deficiency, Uridine Monophosphate Synthetase Deficiency) Orotidylic Decarboxylase Deficiency Osebold Remondini Syndrome (Brachymesophalangy Mesomelic Short Limbs Osseous Anomalies, Brachydactyly Type A6) Osler Weber Rendu Syndrome (Hereditary Hemorrhagic Telangiectasia, HHT) Osseous Dysplasia
  • Neonatal
  • Osteochondrodysplasia Osteochondromatosis Osteodysgenesis Osteodysplasty Osteogenesis Imperfecta Osteogenic Sarcoma Osteomesopyknosis (Axial Osteosclerosis) Osteopetrosis Osteoporosis Osteosarcoma (Osteogenic Sarcoma) Osteosclerosis Ohtahara's Syndrome
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    Otopalatodigital (OPD) Syndrome Otospondylomegaepiphyseal Dysplasia Ouvrier Billson Syndrome (Benign Childhood Paroxysmal Tonic Upgaze with Ataxia) Ovarian Dwarfism/Aplasia Ovarian cysts Oxalosis Oxoglutaricaciduria (Alpha-Ketoglutarate Dehydrogenase Deficiency) Oxycephaly


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