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monogenic disease, monogenic disorder (en) - polygenic disease, polygenic disorder (en) - acondroplasia - abetalipoproteinemia (en) - inborn error of metabolism (en) - Doença de Hirschsprung - Mucopolissacaridose - hyperbetalipoproteinemia (en) - ictiose - Doença da urina em xarope de ácer - McArdle's disease (en) - distrofia, distrofia muscular - oligodactyly (en) - oligodontia (en) - otosclerose - autosomal dominant disease, autosomal dominant disorder (en) - autosomal recessive defect, autosomal recessive disease (en) - aplastic anemia with congenital anomalies, aplastic infantile funicular myelosis, congenital aplastic anemia, congenital hypoplastic anemia, congenital pancytopenia, constitutional infantile panmyelopathy, familial aplastic anemia with multiple congenital defects, familial constitutional panmyelopathy, familial hypoplastic anemia, Fanconi's anaemia, Fanconi's anemia, Fanconi's pancytopenia, Fanconi's panmyelopathy, Fanconi's refractory anemia (en) - juvenile amaurotic idiocy, Spielmeyer-Vogt disease (en) - congenital afibrinogenemia (en) - Albers-Schonberg disease, marble bones disease, osteopetrosis (en) - nevoid elephantiasis, pachyderma (en) - nanismo - Intolerancia a lactose, Intolerância a lactose, intolerância à lactose - porfiria, Porfíria - Doença de Wilson[Spéc.]
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