– porphyria, acute intermittent – porphyria cutanea tarda – porphyria, hepatoerythropoietic – porphyria, variegate – protoporphyria, erythropoietic – progeria – purine–pyrimidine metabolism, inborn errors – gout – arthritis, gouty – Lesch–Nyhan syndrome – renal tubular transport, inborn errors – acidosis, renal tubular – aminoaciduria, renal – cystinuria – Hartnup disease – cystinosis – Fanconi syndrome – glycosuria, renal – hypophosphatemia, familial – oculocerebrorenal syndrome – pseudohypoaldosteronism – steroid metabolism, inborn errors – adrenal hyperplasia, congenital – mineralocorticoid excess syndrome, apparent – ichthyosis, x-linked – Smith–Lemli–Opitz syndrome – muscular dystrophies – distal myopathies – glycogen storage disease type VII – muscular dystrophies, limb-girdle – muscular dystrophy, Duchenne – muscular dystrophy, Emery–Dreifuss – muscular dystrophy, facioscapulohumeral – muscular dystrophy, oculopharyngeal – myotonic dystrophy – myasthenic syndromes, congenital – nail–patella syndrome – neoplastic syndromes, hereditary – adenomatous polyposis coli – Gardner's syndrome – basal-cell nevus syndrome – colorectal neoplasms, hereditary nonpolyposis – dysplastic nevus syndrome – exostoses, multiple hereditary – hamartoma syndrome, multiple – Li–Fraumeni syndrome – multiple endocrine neoplasia – multiple endocrine neoplasia type 1 – multiple endocrine neoplasia type 2a – multiple endocrine neoplasia type 2b – Wilms' tumor – Denys–Drash syndrome – WAGR syndrome – Neurofibromatosis – neurofibromatosis 1 – neurofibromatosis 2 – Peutz–Jeghers syndrome – Sturge–Weber syndrome – osteogenesis imperfecta – pain insensitivity, congenital – Romano–Ward syndrome – skin diseases, genetic – albinism – albinism, ocular – albinism, oculocutaneous – Hermansky–Pudlak syndrome – piebaldism – cutis laxa – dermatitis, atopic – dyskeratosis congenita – ectodermal dysplasia – Ellis–van Creveld syndrome – focal dermal hypoplasia – neurocutaneous syndromes – Ehlers–Danlos syndrome – epidermolysis bullosa – epidermolysis bullosa dystrophica – epidermolysis bullosa, junctional – epidermolysis bullosa simplex – ichthyosiform erythroderma, congenital – hyperkeratosis, epidermolytic – ichthyosis, lamellar – ichthyosis vulgaris – ichthyosis, x-linked – incontinentia pigmenti – keratoderma, palmoplantar – keratoderma, palmoplantar, diffuse – Papillon–Lefèvre disease – keratosis follicularis – pemphigus, benign familial – porokeratosis – porphyria, erythropoietic – porphyrias, hepatic – coproporphyria, hereditary – porphyria, acute intermittent – porphyria cutanea tarda – porphyria, hepatoerythropoietic – porphyria, variegate – protoporphyria, erythropoietic – pseudoxanthoma elasticum – Rothmund–Thomson syndrome – Sjögren–Larsson syndrome – xeroderma pigmentosum – Werner syndrome – infant, newborn, diseases – amniotic band syndrome – anemia, neonatal – fetofetal transfusion – fetomaternal transfusion – asphyxia neonatorum – birth injuries – paralysis, obstetric – cystic fibrosis – epilepsy, benign neonatal – erythroblastosis, fetal – kernicterus – hemorrhagic disease of newborn – hernia,