#genetic_disease__geneticdisease__genetic_disorder__geneticdisorder__genetic_abnormality__geneticabnormality__genetic_defect__geneticdefect__congenital_disease__inherited_disease__inheriteddisease__inherited_disorder__inheriteddisorder__hereditary_disease__hereditary_condition  a disease or disorder that is inherited genetically
  supertype:  #disease  an impairment of health or a condition of abnormal functioning
  subtype:  #achondroplasia__achondroplasty__osteosclerosis_congenita__chondrodystrophy  an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
  subtype:  #abetalipoproteinemia  a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels
  subtype:  #cystic_fibrosis__fibrocystic_disease_of_the_pancreas__pancreatic_fibrosis__mucoviscidosis  a congenital disease in which the pancreas and lungs and intestines become clogged with mucus
  subtype:  #inborn_error_of_metabolism  any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
     subtype:  #galactosemia  a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth
     subtype:  #lysinemia  an inborn error of metabolism in which the lack of certain enzymes leads to an inability to metabolize the amino acid lysine; characterized by muscular weakness and mental retardation
     subtype:  #Niemann-Pick_disease  a disorder of lipid metabolism that is inherited as an autosomal recessive trait
     subtype:  #Tay-Sachs_disease__Tay-Sachs__Sachs_disease__infantile_amaurotic_idiocy__infantileamauroticidiocy  a hereditary disorder of lipid metabolism occuring most frequently in individuals of E European Jewish descent; accumulation of lipids in nervous tissue results in death in early childhood
     subtype:  #phenylketonuria__PKU  a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency
  subtype:  #Hirschsprung's_disease__congenital_megacolon  congenital condition in which the colon does not have the normal network of nerves; there is little urge to defecate so the feces accumulate and cause megacolon
  subtype:  #mucopolysaccharidosis__mucopolysaccharidosi  any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues
     subtype:  #Hurler's_syndrome__Hurler's_disease__gargoylism__dysostosis_multiplex__lipochondrodystrophy  hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation
  subtype:  #hyperbetalipoproteinemia  a genetic disorder characterized by high levels of beta-lipoproteins and cholesterol; can lead to atherosclerosis at an early age
  subtype:  #ichthyosis  any of several congenital diseases in which the skin is fishlike (dry and scaly)
  subtype:  #maple_syrup_urine_disease__maplesyrupurinedisease__branched_chain_ketoaciduria  an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood
  subtype:  #McArdle's_disease  an inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle; results in weakness and cramping
  subtype:  #muscular_dystrophy__dystrophy  any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles
     subtype:  #Duchenne's_muscular_dystrophy__pseudohypertrophic_dystrophy  the most common form of muscular dystrophy; X-linked recessive (affecting only males)
     subtype:  #limb-girdle_muscular_dystrophy  an autosomal recessive form of muscular dystrophy characterized by progressive muscular weakness beginning either in the shoulder or pelvic girdle
     subtype:  #myotonic_muscular_dystrophy__myotonia_atrophica__Steinert's_disease  a severe form of muscular dystrophy marked by facial weakness and drooping eyelids and difficult speech and difficulty with the hands that spreads to the arms and shoulders and legs and hips
  subtype:  #oligodactyly  congenital condition in which some fingers or toes are missing
  subtype:  #oligodontia  congenital condition in which some of the teeth are missing
  subtype:  #otosclerosis  hereditary disorder in which ossification of the labyrinth of the inner ear causes tinnitus and eventual deafness
  subtype:  #autosomal_dominant_disease__autosomal_dominant_disorder  a disease caused by a dominant mutant gene on an autosome
     subtype:  #Huntington's_chorea__Huntington's_disease  hereditary; develops in adulthood and ends in dementia
     subtype:  #malignant_hyperthermia__malignanthyperthermia  hereditary condition in which certain anesthetics (e.g., halothane) cause high body temperatures and muscle rigidity
     subtype:  #Marfan's_syndrome  an autosomal dominant disease characterized by elongated bones (especially of limbs and digits) and abnormalities of the eyes and circulatory system
     subtype:  #neurofibromatosis__neurofibromatosi__von_Recklinghausen's_disease  autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities
     subtype:  #osteogenesis_imperfecta  autosomal dominant disorder of connective tissue characterized by brittle bones that fracture easily
  subtype:  #autosomal_recessive_disease__autosomalrecessivedisease__autosomal_recessive_defect__autosomalrecessivedefect  a disease caused by the presence of two recessive mutant genes on an autosome
     subtype:  #limb-girdle_muscular_dystrophy  an autosomal recessive form of muscular dystrophy characterized by progressive muscular weakness beginning either in the shoulder or pelvic girdle
     subtype:  #Niemann-Pick_disease  a disorder of lipid metabolism that is inherited as an autosomal recessive trait
     subtype:  #Tay-Sachs_disease__Tay-Sachs__Sachs_disease__infantile_amaurotic_idiocy__infantileamauroticidiocy  a hereditary disorder of lipid metabolism occuring most frequently in individuals of E European Jewish descent; accumulation of lipids in nervous tissue results in death in early childhood
     subtype:  #thrombasthenia  a rare autosomal recessive disease in which the platelets do not produce clots in the normal way and hemorrhage results
     subtype:  #tyrosinemia  autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation
     subtype:  #Werdnig-Hoffman_disease  autosomal recessive disease in which the degeneration of spinal nerve cells and brain nerve cells leads to atrophy of skeletal muscles and flaccid paralysis; death usually occurs in early childhood
  subtype:  #Fanconi's_anemia__Fanconi's_anaemia__congenital_pancytopenia  a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow
  subtype:  #sickle-cell_anemia__sickle-cell_anaemia__sickle-cell_disease__crescent-cell_anemia__crescent-cell_anaemia__drepanocytic_anemia__drepanocytic_anaemia  a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape
  subtype:  #Spielmeyer-Vogt_disease__juvenile_amaurotic_idiocy  a congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death
  subtype:  #congenital_afibrinogenemia  a rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma
  subtype:  #osteopetrosis__Albers-Schonberg_disease__marble_bones_disease  an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated
  subtype:  #nevoid_elephantiasis__pachyderma  thickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction
  subtype:  #dwarfism__nanism  a genetic abnormality resulting in short stature
     subtype:  #pycnodysostosis__pycnodysostosi  a form of dwarfism accompanied by fragile bones and bad teeth
  subtype:  #lactose_intolerance__lactoseintolerance__lactase_deficiency__lactasedeficiency__milk_intolerance  congenital disorder consisting of an inability to digest milk and milk products; absence or deficiency of lactase results in an inability to hydrolyze lactose
  subtype:  #porphyria  a genetic abnormality of metabolism causing abdominal pains and mental confusion
  subtype:  #hepatolenticular_degeneration__Wilson's_disease  a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain

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