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1 | What is (are) Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ? |
1 | What is (are) Nager syndrome ? |
1 | What is (are) nail-patella syndrome ? |
1 | What is (are) Nakajo-Nishimura syndrome ? |
1 | What is (are) narcolepsy ? |
1 | What is (are) nemaline myopathy ? |
1 | What is (are) neonatal onset multisystem inflammatory disease ? |
1 | What is (are) nephrogenic diabetes insipidus ? |
1 | What is (are) nephronophthisis ? |
1 | What is (are) Netherton syndrome ? |
1 | What is (are) neuroblastoma ? |
1 | What is (are) neuroferritinopathy ? |
1 | What is (are) neurofibromatosis type 1 ? |
1 | What is (are) neurofibromatosis type 2 ? |
1 | What is (are) neurohypophyseal diabetes insipidus ? |
1 | What is (are) neuromyelitis optica ? |
1 | What is (are) neuropathy, ataxia, and retinitis pigmentosa ? |
1 | What is (are) neutral lipid storage disease with myopathy ? |
1 | What is (are) Nicolaides-Baraitser syndrome ? |
1 | What is (are) Niemann-Pick disease ? |
1 | What is (are) Nijmegen breakage syndrome ? |
1 | What is (are) nonbullous congenital ichthyosiform erythroderma ? |
1 | What is (are) nonsyndromic aplasia cutis congenita ? |
1 | What is (are) nonsyndromic hearing loss ? |
1 | What is (are) nonsyndromic holoprosencephaly ? |
1 | What is (are) nonsyndromic paraganglioma ? |
1 | What is (are) Noonan syndrome ? |
1 | What is (are) Norrie disease ? |
1 | What is (are) North American Indian childhood cirrhosis ? |
1 | What is (are) Northern epilepsy ? |
1 | What is (are) Ochoa syndrome ? |
1 | What is (are) ocular albinism ? |
1 | What is (are) oculocutaneous albinism ? |
1 | What is (are) oculodentodigital dysplasia ? |
1 | What is (are) oculofaciocardiodental syndrome ? |
1 | What is (are) oculopharyngeal muscular dystrophy ? |
1 | What is (are) Ohdo syndrome, Maat-Kievit-Brunner type ? |
1 | What is (are) Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ? |
1 | What is (are) Ollier disease ? |
1 | What is (are) ophthalmo-acromelic syndrome ? |
1 | What is (are) Opitz G/BBB syndrome ? |
1 | What is (are) optic atrophy type 1 ? |
1 | What is (are) oral-facial-digital syndrome ? |
1 | What is (are) ornithine transcarbamylase deficiency ? |
1 | What is (are) ornithine translocase deficiency ? |
1 | What is (are) osteogenesis imperfecta ? |
1 | What is (are) osteoglophonic dysplasia ? |
1 | What is (are) osteopetrosis ? |
1 | What is (are) osteoporosis-pseudoglioma syndrome ? |
1 | What is (are) otopalatodigital syndrome type 1 ? |
1 | What is (are) otopalatodigital syndrome type 2 ? |
1 | What is (are) otospondylomegaepiphyseal dysplasia ? |
1 | What is (are) ovarian cancer ? |
1 | What is (are) pachyonychia congenita ? |
1 | What is (are) Paget disease of bone ? |
1 | What is (are) Pallister-Hall syndrome ? |
1 | What is (are) Pallister-Killian mosaic syndrome ? |
1 | What is (are) palmoplantar keratoderma with deafness ? |
1 | What is (are) pantothenate kinase-associated neurodegeneration ? |
1 | What is (are) paramyotonia congenita ? |
1 | What is (are) Parkes Weber syndrome ? |
1 | What is (are) Parkinson disease ? |
1 | What is (are) paroxysmal extreme pain disorder ? |
1 | What is (are) paroxysmal nocturnal hemoglobinuria ? |
1 | What is (are) Partington syndrome ? |
1 | What is (are) PDGFRA-associated chronic eosinophilic leukemia ? |
1 | What is (are) PDGFRB-associated chronic eosinophilic leukemia ? |
1 | What is (are) Pearson marrow-pancreas syndrome ? |
1 | What is (are) Pelizaeus-Merzbacher disease ? |
1 | What is (are) Pendred syndrome ? |
1 | What is (are) periventricular heterotopia ? |
1 | What is (are) permanent neonatal diabetes mellitus ? |
1 | What is (are) peroxisomal acyl-CoA oxidase deficiency ? |
1 | What is (are) Perrault syndrome ? |
1 | What is (are) Perry syndrome ? |
1 | What is (are) persistent Mllerian duct syndrome ? |
1 | What is (are) Peters plus syndrome ? |
1 | What is (are) Peutz-Jeghers syndrome ? |
1 | What is (are) Pfeiffer syndrome ? |
1 | What is (are) phenylketonuria ? |
1 | What is (are) phosphoglycerate dehydrogenase deficiency ? |
1 | What is (are) phosphoglycerate kinase deficiency ? |
1 | What is (are) phosphoglycerate mutase deficiency ? |
1 | What is (are) phosphoribosylpyrophosphate synthetase superactivity ? |
1 | What is (are) piebaldism ? |
1 | What is (are) pilomatricoma ? |
1 | What is (are) Pitt-Hopkins syndrome ? |
1 | What is (are) platyspondylic lethal skeletal dysplasia, Torrance type ? |
1 | What is (are) PMM2-congenital disorder of glycosylation ? |
1 | What is (are) Pol III-related leukodystrophy ? |
1 | What is (are) Poland syndrome ? |
1 | What is (are) polycystic kidney disease ? |
1 | What is (are) polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ? |
1 | What is (are) polycythemia vera ? |
1 | What is (are) polymicrogyria ? |
1 | What is (are) Pompe disease ? |
1 | What is (are) pontocerebellar hypoplasia ? |
1 | What is (are) popliteal pterygium syndrome ? |
1 | What is (are) porphyria ? |
1 | What is (are) potassium-aggravated myotonia ? |
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