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N
Disorder Name
Night Blindness, Congenital Stationary, CSNB2B
Night Blindness, Congenital Stationary, CSNBAD1
Night Blindness, Congenital Stationary, CSNBAD2
Night Blindness, Congenital Stationary, CSNBAD3
Noonan Syndrome
Norrie Disease
Nystagmus 1, Congenital, X-linked
Nystagmus 2, Congenital, AD
Nystagmus 3, Congenital, AD
Nystagmus 4, AD
Nystagmus 5, Congenital, X-linked
Nystagmus 6, Congenital, X-linked
Nystagmus 7, Congenital, AD
Nystagmus-Split Hand Syndrome
O
Disorder Name
Oculoauricular Syndrome
Oculocerebral Syndrome with Hypopigmentation
Oculodentodigital Dysplasia
Oculomotor Apraxia
Oculootofacial Dysplasia
Oculopharyngeal Muscular Dystrophy
Oculopharyngodistal Myopathy
Oguchi Disease, Type 1
Oguchi Disease, Type 2
Optic Atrophy 1
Optic Atrophy 10
Optic Atrophy 11
Optic Atrophy 2, X-Linked
Optic Atrophy 3 and Cataracts
Optic Atrophy 4
Optic Atrophy 5
Optic Atrophy 6
Optic Atrophy 7
Optic Atrophy 9
Optic Atrophy with Intellectual Disability
Optic Atrophy, Areflexia, Ataxia, Hearing Loss
Optic Atrophy, Ophthalmoplegia, Myopathy, and Neuropathy
Optic Nerve Edema, Splenomegaly, Cytopenias
Optic Nerve Hypoplasia, Bilateral
Organoid Nevus Syndrome
Orofaciodigital Syndrome IX
Orofaciodigital Syndrome, Type VI
Osteogenesis Imperfecta
Osteogenesis Imperfecta, Type VII
Osteoporosis-Pseudoglioma Syndrome
P
Disorder Name
Palmoplantar Keratoderma and Woolly Hair
Pantothenate Kinase-Associated Neurodegeneration
Papillorenal Syndrome
Pearson Marrow-Pancreas Syndrome
PEHO Syndrome
PEHO-Like Syndrome
Pelizeaus-Merzbacher Disease
Peroxisome Biogenesis Disorder 1A (Zellweger)
Peroxisome Biogenesis Disorder 1B (neonatal adrenoleukodystrophy)
Peroxisome Biogenesis Disorder 3B (Infantile Refsum Disease)
Peroxisomol Fatty Acyl-CoA Reductase 1 Disorder
Perrault Syndrome
Persistent Hyperplastic Primary Vitreous
Peters Anomaly
Peters-Plus Syndrome
Pfeiffer Syndrome