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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)
- Type III
- X-Linked
- with Macular Degeneration and External Ophthalmoplegia
- with Retinal Degeneration
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
- Type I
- Type II
- Type III
- Type VI
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
- of Melnik and Needles
- Precocious
- of Danks, Mayne, and Kozlowski
Osteogenesis Imperfecta
Osteogenic Sarcoma
Osteomesopyknosis (Axial Osteosclerosis)
Osteopetrosis
- Autosomal Dominant
- Autosomal Recessive
Osteoporosis
Osteosarcoma (Osteogenic Sarcoma)
Osteosclerosis
Ohtahara's Syndrome
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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