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monogenic disease, monogenic disorder - polygenic disease, polygenic disorder - acondroplasia — achondroplasia, achondroplasty, chondrodystrophy, osteosclerosis congenita - abetalipoproteinemia - inborn error of metabolism - Doença de Hirschsprung — aganglionic megacolon, congenital megacolon, Hirschsprung's disease, Hirschsprung disease, pelvirectal achalasia - Mucopolissacaridose — mucopolysaccharidosis - hyperbetalipoproteinemia - ictiose — ichthyosis - Doença da urina em xarope de ácer — branched chain ketoaciduria, maple syrup urine disease - McArdle's disease - distrofia, distrofia muscular — dystrophy, muscular dystrophy - oligodactyly - oligodontia - otosclerose — otosclerosis - autosomal dominant disease, autosomal dominant disorder - autosomal recessive defect, autosomal recessive disease - 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 - juvenile amaurotic idiocy, Spielmeyer-Vogt disease - congenital afibrinogenemia - Albers-Schonberg disease, marble bones disease, osteopetrosis - nevoid elephantiasis, pachyderma - nanismo — dwarfism, nanism - Intolerancia a lactose, Intolerância a lactose, intolerância à lactose — lactase deficiency, lactose intolerance, milk intolerance - porfiria, Porfíria — porphyria - Doença de Wilson — hepatolenticular degeneration, Wilson's disease[Spéc.]
congenital disease (n.) • Deformações genéticas (n.) • genetic abnormality (n.) • genetic defect (n.) • genetic disease (n.) • genetic disorder (n.) • hereditary condition (n.) • hereditary disease (n.) • inherited disease (n.) • inherited disorder (n.)-