138 variantes (calcar para ver):

+ abetalipoproteinemia	n	1	[ congenital_disease ]	eng-30-14151884-n	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
+ achondroplasia	n	1	[ congenital_disease ]	eng-30-14121804-n	an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
+ achondroplastic	a	1	[ congenital_disease ]	eng-30-02899271-a	of or relating to achondroplasia
+ achondroplasty	n	1	[ congenital_disease ]	eng-30-14121804-n	an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
+ ADA-SCID	n	1	[ congenital_disease ]	eng-30-14129223-n	SCID resulting from mutation of a gene that codes for adenosine deaminase
+ adult-onset_diabetes	n	1	[ congenital_disease ]	eng-30-14118936-n	mild form of diabetes mellitus that develops gradually in adults; can be precipitated by obesity or severe stress or menopause or other factors; can usually be controlled by diet and hypoglycemic agents without injections of insulin
+ adult-onset_diabetes_mellitus	n	1	[ congenital_disease ]	eng-30-14118936-n	mild form of diabetes mellitus that develops gradually in adults; can be precipitated by obesity or severe stress or menopause or other factors; can usually be controlled by diet and hypoglycemic agents without injections of insulin
+ Albers-Schonberg_disease	n	1	[ congenital_disease ]	eng-30-14210119-n	an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated
+ autosomal_dominant_disease	n	1	[ congenital_disease ]	eng-30-14162025-n	a disease caused by a dominant mutant gene on an autosome
+ autosomal_dominant_disorder	n	1	[ congenital_disease ]	eng-30-14162025-n	a disease caused by a dominant mutant gene on an autosome
+ autosomal_recessive_defect	n	1	[ congenital_disease ]	eng-30-14162275-n	a disease caused by the presence of two recessive mutant genes on an autosome
+ autosomal_recessive_disease	n	1	[ congenital_disease ]	eng-30-14162275-n	a disease caused by the presence of two recessive mutant genes on an autosome
+ Becker_muscular_dystrophy	n	1	[ congenital_disease ]	eng-30-14161075-n	a form of muscular dystrophy that sets in in adolescence or adulthood and progresses slowly but will affect all voluntary muscles; characterized by generalized weakness and muscle wasting that affects limb and trunk muscles first; similar to Duchenne's muscular dystrophy but less severe; inheritance is X-linked recessive (carried by females but affecting only males)
+ branched_chain_ketoaciduria	n	1	[ congenital_disease ]	eng-30-14159887-n	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
+ CF	n	2	[ congenital_disease pathology ]	eng-30-14155506-n	the most common congenital disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single gene; no cure is known
+ chemical_diabetes	n	1	[ congenital_disease ]	eng-30-14120096-n	a mild form of diabetes mellitus in which there are no overt symptoms but there are abnormal responses to some diagnostic procedures
+ chondrodystrophy	n	1	[ congenital_disease ]	eng-30-14121804-n	an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
+ congenital_afibrinogenemia	n	1	[ congenital_disease ]	eng-30-14171492-n	a rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma
+ congenital_megacolon	n	1	[ congenital_disease ]	eng-30-14156488-n	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
+ congenital_pancytopenia	n	1	[ congenital_disease ]	eng-30-14164866-n	a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow
+ Cooley's_anaemia	n	1	[ congenital_disease ]	eng-30-14195939-n	a fatal form of homozygous thalassemia (inherited from both parents) in which there is no hemoglobin; skeletal deformations; heart and spleen and liver enlarged
+ Cooley's_anemia	n	1	[ congenital_disease ]	eng-30-14195939-n	a fatal form of homozygous thalassemia (inherited from both parents) in which there is no hemoglobin; skeletal deformations; heart and spleen and liver enlarged
+ crescent-cell_anaemia	n	1	[ congenital_disease blood_disease ]	eng-30-14168792-n	a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape
+ crescent-cell_anemia	n	1	[ congenital_disease blood_disease ]	eng-30-14168792-n	a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape
+ cystic_fibrosis	n	1	[ congenital_disease pathology ]	eng-30-14155506-n	the most common congenital disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single gene; no cure is known
+ cystinuria	n	1	[ congenital_disease ]	eng-30-80001112-n	an inherited autosomal recessive disease that is characterized by the formation of cystine stones in the kidneys, ureter, and bladder.
+ diabetes	n	1	[ congenital_disease ]	eng-30-14117805-n	a polygenic disease characterized by abnormally high glucose levels in the blood; any of several metabolic disorders marked by excessive urination and persistent thirst
+ diabetes_insipidus	n	1	[ congenital_disease ]	eng-30-14119770-n	a rare form of diabetes resulting from a deficiency of vasopressin (the pituitary hormone that regulates the kidneys); characterized by the chronic excretion of large amounts of pale dilute urine which results in dehydration and extreme thirst
+ diabetes_mellitus	n	1	[ congenital_disease ]	eng-30-14118138-n	diabetes caused by a relative or absolute deficiency of insulin and characterized by polyuria
+ diabetic	a	2	[ unfortunate congenital_disease ]	eng-30-02543934-a	suffering from diabetes
+ diabetic	a	1	[ congenital_disease ]	eng-30-03060971-a	of or relating to or causing diabetes
+ distal_muscular_dystrophy	n	1	[ congenital_disease ]	eng-30-14161515-n	a form of muscular dystrophy that sets in between 40 and 60 years of age and is characterized by weakness and wasting of the muscles of the hands and forearms and lower legs; inheritance is autosomal dominant
+ DM	n	1	[ congenital_disease ]	eng-30-14118138-n	diabetes caused by a relative or absolute deficiency of insulin and characterized by polyuria
+ drepanocytic_anaemia	n	1	[ congenital_disease blood_disease ]	eng-30-14168792-n	a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape
+ drepanocytic_anemia	n	1	[ congenital_disease blood_disease ]	eng-30-14168792-n	a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape
+ Duchenne's_muscular_dystrophy	n	1	[ congenital_disease ]	eng-30-14161795-n	the most common form of muscular dystrophy; inheritance is X-linked recessive (carried by females but affecting only males)
+ dwarfism	n	1	[ congenital_disease ]	eng-30-14506403-n	a genetic abnormality resulting in short stature
+ dysostosis_multiplex	n	1	[ congenital_disease ]	eng-30-14157163-n	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
+ dystrophy	n	1	[ congenital_disease ]	eng-30-14160365-n	any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles
+ enzymopathy	n	1	[ congenital_disease ]	eng-30-80000344-n
+ familial_hypercholesterolemia	n	1	[ congenital_disease symptom ]	eng-30-14466974-n	congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis
+ Fanconi's_anaemia	n	1	[ congenital_disease ]	eng-30-14164866-n	a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow
+ Fanconi's_anemia	n	1	[ congenital_disease ]	eng-30-14164866-n	a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow
+ fibrocystic_disease_of_the_pancreas	n	1	[ congenital_disease pathology ]	eng-30-14155506-n	the most common congenital disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single gene; no cure is known
+ galactosemia	n	1	[ congenital_disease ]	eng-30-14156134-n	a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth
+ gargoylism	n	1	[ congenital_disease ]	eng-30-14157163-n	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
+ Gaucher's_disease	n	1	[ congenital_disease ]	eng-30-14156345-n	a rare chronic disorder of lipid metabolism of genetic origin
+ hepatolenticular_degeneration	n	1	[ congenital_disease ]	eng-30-14569121-n	a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain
+ Hirschsprung's_disease	n	1	[ congenital_disease ]	eng-30-14156488-n	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
+ Huntington's_chorea	n	1	[ congenital_disease ]	eng-30-14156976-n	hereditary disease; develops in adulthood and ends in dementia
+ Huntington's_disease	n	1	[ congenital_disease ]	eng-30-14156976-n	hereditary disease; develops in adulthood and ends in dementia
+ Hurler's_disease	n	1	[ congenital_disease ]	eng-30-14157163-n	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
+ Hurler's_syndrome	n	1	[ congenital_disease ]	eng-30-14157163-n	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
+ hyperbetalipoproteinemia	n	1	[ congenital_disease ]	eng-30-14158594-n	a genetic disorder characterized by high levels of beta-lipoproteins and cholesterol; can lead to atherosclerosis at an early age
+ ichthyosis	n	1	[ congenital_disease ]	eng-30-14158997-n	any of several congenital diseases in which the skin is dry and scaly like a fish
+ inborn_error_of_metabolism	n	1	[ congenital_disease ]	eng-30-14155834-n	any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
+ infantile_amaurotic_idiocy	n	1	[ congenital_disease ]	eng-30-14169364-n	a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood
+ juvenile_amaurotic_idiocy	n	1	[ congenital_disease ]	eng-30-14169128-n	a congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death
+ ketoacidosis-resistant_diabetes	n	1	[ congenital_disease ]	eng-30-14118936-n	mild form of diabetes mellitus that develops gradually in adults; can be precipitated by obesity or severe stress or menopause or other factors; can usually be controlled by diet and hypoglycemic agents without injections of insulin
+ ketoacidosis-resistant_diabetes_mellitus	n	1	[ congenital_disease ]	eng-30-14118936-n	mild form of diabetes mellitus that develops gradually in adults; can be precipitated by obesity or severe stress or menopause or other factors; can usually be controlled by diet and hypoglycemic agents without injections of insulin
+ ketosis-resistant_diabetes	n	1	[ congenital_disease ]	eng-30-14118936-n	mild form of diabetes mellitus that develops gradually in adults; can be precipitated by obesity or severe stress or menopause or other factors; can usually be controlled by diet and hypoglycemic agents without injections of insulin
+ ketosis-resistant_diabetes_mellitus	n	1	[ congenital_disease ]	eng-30-14118936-n	mild form of diabetes mellitus that develops gradually in adults; can be precipitated by obesity or severe stress or menopause or other factors; can usually be controlled by diet and hypoglycemic agents without injections of insulin
+ lactase_deficiency	n	1	[ congenital_disease ]	eng-30-14506656-n	congenital disorder consisting of an inability to digest milk and milk products; absence or deficiency of lactase results in an inability to hydrolyze lactose
+ lactose_intolerance	n	1	[ congenital_disease ]	eng-30-14506656-n	congenital disorder consisting of an inability to digest milk and milk products; absence or deficiency of lactase results in an inability to hydrolyze lactose
+ latent_diabetes	n	1	[ congenital_disease ]	eng-30-14120096-n	a mild form of diabetes mellitus in which there are no overt symptoms but there are abnormal responses to some diagnostic procedures
+ limb-girdle_muscular_dystrophy	n	1	[ congenital_disease ]	eng-30-14162563-n	an autosomal recessive form of muscular dystrophy that appears anywhere from late childhood to middle age; characterized by progressive muscular weakness beginning either in the shoulder or pelvic girdle; usually progresses slowly with cardiopulmonary complications in the later stages
+ lipochondrodystrophy	n	1	[ congenital_disease ]	eng-30-14157163-n	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
+ lysinemia	n	1	[ congenital_disease ]	eng-30-14162943-n	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
+ malignant_hyperthermia	n	1	[ congenital_disease ]	eng-30-14157782-n	hereditary condition in which certain anesthetics (e.g., halothane) cause high body temperatures and muscle rigidity
+ maple_syrup_urine_disease	n	1	[ congenital_disease ]	eng-30-14159887-n	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
+ marble_bones_disease	n	1	[ congenital_disease ]	eng-30-14210119-n	an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated
+ Marfan's_syndrome	n	1	[ congenital_disease ]	eng-30-14157967-n	an autosomal dominant disease characterized by elongated bones (especially of limbs and digits) and abnormalities of the eyes and circulatory system
+ mature-onset_diabetes	n	1	[ congenital_disease ]	eng-30-14118936-n	mild form of diabetes mellitus that develops gradually in adults; can be precipitated by obesity or severe stress or menopause or other factors; can usually be controlled by diet and hypoglycemic agents without injections of insulin
+ maturity-onset_diabetes	n	1	[ congenital_disease ]	eng-30-14118936-n	mild form of diabetes mellitus that develops gradually in adults; can be precipitated by obesity or severe stress or menopause or other factors; can usually be controlled by diet and hypoglycemic agents without injections of insulin
+ maturity-onset_diabetes_mellitus	n	1	[ congenital_disease ]	eng-30-14118936-n	mild form of diabetes mellitus that develops gradually in adults; can be precipitated by obesity or severe stress or menopause or other factors; can usually be controlled by diet and hypoglycemic agents without injections of insulin
+ McArdle's_disease	n	1	[ congenital_disease ]	eng-30-14160179-n	an inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle; results in weakness and cramping
+ Mediterranean_anaemia	n	1	[ congenital_disease ]	eng-30-14195715-n	an inherited form of anemia caused by faulty synthesis of hemoglobin
+ Mediterranean_anemia	n	1	[ congenital_disease ]	eng-30-14195715-n	an inherited form of anemia caused by faulty synthesis of hemoglobin
+ milk_intolerance	n	1	[ congenital_disease ]	eng-30-14506656-n	congenital disorder consisting of an inability to digest milk and milk products; absence or deficiency of lactase results in an inability to hydrolyze lactose
+ monogenic_disease	n	1	[ congenital_disease ]	eng-30-14074877-n	an inherited disease controlled by a single pair of genes
+ monogenic_disorder	n	1	[ congenital_disease ]	eng-30-14074877-n	an inherited disease controlled by a single pair of genes
+ mucopolysaccharidosis	n	1	[ congenital_disease ]	eng-30-14157527-n	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
+ mucoviscidosis	n	1	[ congenital_disease pathology ]	eng-30-14155506-n	the most common congenital disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single gene; no cure is known
+ muscular_dystrophy	n	1	[ congenital_disease ]	eng-30-14160365-n	any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles
+ myotonia_atrophica	n	1	[ congenital_disease ]	eng-30-14163182-n	a severe form of muscular dystrophy marked by generalized weakness and muscular wasting that affects the face and feet and hands and neck; difficult speech and difficulty with the hands that spreads to the arms and shoulders and legs and hips; the onset can be any time from birth to middle age and the progression is slow; inheritance is autosomal dominant
+ myotonic_dystrophy	n	1	[ congenital_disease ]	eng-30-14163182-n	a severe form of muscular dystrophy marked by generalized weakness and muscular wasting that affects the face and feet and hands and neck; difficult speech and difficulty with the hands that spreads to the arms and shoulders and legs and hips; the onset can be any time from birth to middle age and the progression is slow; inheritance is autosomal dominant
+ myotonic_muscular_dystrophy	n	1	[ congenital_disease ]	eng-30-14163182-n	a severe form of muscular dystrophy marked by generalized weakness and muscular wasting that affects the face and feet and hands and neck; difficult speech and difficulty with the hands that spreads to the arms and shoulders and legs and hips; the onset can be any time from birth to middle age and the progression is slow; inheritance is autosomal dominant
+ nanism	n	1	[ congenital_disease ]	eng-30-14506403-n	a genetic abnormality resulting in short stature
+ nephrogenic_diabetes_insipidus	n	1	[ congenital_disease ]	eng-30-14119598-n	diabetes insipidus caused by a failure of the kidney to respond to normal levels of vasopressin
+ neurofibromatosis	n	1	[ congenital_disease ]	eng-30-14158179-n	autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities
+ nevoid_elephantiasis	n	1	[ congenital_disease ]	eng-30-14367797-n	thickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction
+ NIDDM	n	1	[ congenital_disease ]	eng-30-14118936-n	mild form of diabetes mellitus that develops gradually in adults; can be precipitated by obesity or severe stress or menopause or other factors; can usually be controlled by diet and hypoglycemic agents without injections of insulin
+ Niemann-Pick_disease	n	1	[ congenital_disease ]	eng-30-14164007-n	a disorder of lipid metabolism that is inherited as an autosomal recessive trait
+ non-insulin-dependent_diabetes	n	1	[ congenital_disease ]	eng-30-14118936-n	mild form of diabetes mellitus that develops gradually in adults; can be precipitated by obesity or severe stress or menopause or other factors; can usually be controlled by diet and hypoglycemic agents without injections of insulin
+ non-insulin-dependent_diabetes_mellitus	n	1	[ congenital_disease ]	eng-30-14118936-n	mild form of diabetes mellitus that develops gradually in adults; can be precipitated by obesity or severe stress or menopause or other factors; can usually be controlled by diet and hypoglycemic agents without injections of insulin
+ oculopharyngeal_muscular_dystrophy	n	1	[ congenital_disease ]	eng-30-14163676-n	a form of muscular dystrophy that usually begins between early adulthood and middle age and first affects muscles of the eyelid and throat; progresses slowly with swallowing problems common as the disease progresses; inheritance is autosomal dominant
+ oligodactyly	n	1	[ congenital_disease ]	eng-30-14160665-n	congenital condition in which some fingers or toes are missing
+ oligodontia	n	1	[ congenital_disease ]	eng-30-14160786-n	congenital condition in which some of the teeth are missing
+ osteogenesis_imperfecta	n	1	[ congenital_disease ]	eng-30-14158424-n	autosomal dominant disorder of connective tissue characterized by brittle bones that fracture easily
+ osteopetrosis	n	1	[ congenital_disease ]	eng-30-14210119-n	an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated
+ osteosclerosis_congenita	n	1	[ congenital_disease ]	eng-30-14121804-n	an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
+ otosclerosis	n	1	[ congenital_disease ]	eng-30-14160903-n	hereditary disorder in which ossification of the labyrinth of the inner ear causes tinnitus and eventual deafness
+ pachyderma	n	1	[ congenital_disease ]	eng-30-14367797-n	thickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction
+ pancreatic_fibrosis	n	1	[ congenital_disease pathology ]	eng-30-14155506-n	the most common congenital disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single gene; no cure is known
+ phenylketonuria	n	1	[ congenital_disease ]	eng-30-14507375-n	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
+ PKU	n	1	[ congenital_disease ]	eng-30-14507375-n	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
+ polycystic_kidney	n	1	[ congenital_disease ]	eng-30-80000345-n
+ polygenic_disease	n	1	[ congenital_disease ]	eng-30-14075199-n	an inherited disease controlled by several genes at once
+ polygenic_disorder	n	1	[ congenital_disease ]	eng-30-14075199-n	an inherited disease controlled by several genes at once
+ porphyria	n	1	[ congenital_disease ]	eng-30-14507651-n	a genetic abnormality of metabolism causing abdominal pains and mental confusion
+ pseudohypertrophic_dystrophy	n	1	[ congenital_disease ]	eng-30-14161795-n	the most common form of muscular dystrophy; inheritance is X-linked recessive (carried by females but affecting only males)
+ pycnodysostosis	n	1	[ congenital_disease ]	eng-30-14506533-n	a form of dwarfism accompanied by fragile bones and bad teeth
+ Sachs_disease	n	1	[ congenital_disease ]	eng-30-14169364-n	a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood
+ SCID	n	1	[ congenital_disease ]	eng-30-14128812-n	a congenital disease affecting T cells that can result from a mutation in any one of several different genes; children with it are susceptible to infectious disease; if untreated it is lethal within the first year or two of life
+ severe_combined_immunodeficiency	n	1	[ congenital_disease ]	eng-30-14128812-n	a congenital disease affecting T cells that can result from a mutation in any one of several different genes; children with it are susceptible to infectious disease; if untreated it is lethal within the first year or two of life
+ severe_combined_immunodeficiency_disease	n	1	[ congenital_disease ]	eng-30-14128812-n	a congenital disease affecting T cells that can result from a mutation in any one of several different genes; children with it are susceptible to infectious disease; if untreated it is lethal within the first year or two of life
+ sickle-cell_anaemia	n	1	[ congenital_disease blood_disease ]	eng-30-14168792-n	a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape
+ sickle-cell_anemia	n	1	[ congenital_disease blood_disease ]	eng-30-14168792-n	a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape
+ sickle-cell_disease	n	1	[ congenital_disease blood_disease ]	eng-30-14168792-n	a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape
+ Spielmeyer-Vogt_disease	n	1	[ congenital_disease ]	eng-30-14169128-n	a congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death
+ Steinert's_disease	n	1	[ congenital_disease ]	eng-30-14163182-n	a severe form of muscular dystrophy marked by generalized weakness and muscular wasting that affects the face and feet and hands and neck; difficult speech and difficulty with the hands that spreads to the arms and shoulders and legs and hips; the onset can be any time from birth to middle age and the progression is slow; inheritance is autosomal dominant
+ Tay-Sachs	n	1	[ congenital_disease ]	eng-30-14169364-n	a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood
+ Tay-Sachs_disease	n	1	[ congenital_disease ]	eng-30-14169364-n	a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood
+ thalassaemia	n	1	[ congenital_disease ]	eng-30-14195715-n	an inherited form of anemia caused by faulty synthesis of hemoglobin
+ thalassaemia_major	n	1	[ congenital_disease ]	eng-30-14195939-n	a fatal form of homozygous thalassemia (inherited from both parents) in which there is no hemoglobin; skeletal deformations; heart and spleen and liver enlarged
+ thalassemia	n	1	[ congenital_disease ]	eng-30-14195715-n	an inherited form of anemia caused by faulty synthesis of hemoglobin
+ thalassemia_major	n	1	[ congenital_disease ]	eng-30-14195939-n	a fatal form of homozygous thalassemia (inherited from both parents) in which there is no hemoglobin; skeletal deformations; heart and spleen and liver enlarged
+ thrombasthenia	n	1	[ congenital_disease ]	eng-30-14169717-n	a rare autosomal recessive disease in which the platelets do not produce clots in the normal way and hemorrhage results
+ type_II_diabetes	n	1	[ congenital_disease ]	eng-30-14118936-n	mild form of diabetes mellitus that develops gradually in adults; can be precipitated by obesity or severe stress or menopause or other factors; can usually be controlled by diet and hypoglycemic agents without injections of insulin
+ tyrosinemia	n	1	[ congenital_disease ]	eng-30-14169897-n	autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation
+ von_Recklinghausen's_disease	n	1	[ congenital_disease ]	eng-30-14158179-n	autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities
+ Werdnig-Hoffman_disease	n	1	[ congenital_disease ]	eng-30-14170070-n	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
+ Wilson's_disease	n	1	[ congenital_disease ]	eng-30-14569121-n	a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain
+ X-linked_SCID	n	1	[ congenital_disease ]	eng-30-14129351-n	SCID in male children resulting from mutation of a gene that codes for a protein on the surface of T cells that allows them to develop a growth factor receptor
+ X-SCID	n	1	[ congenital_disease ]	eng-30-14129351-n	SCID in male children resulting from mutation of a gene that codes for a protein on the surface of T cells that allows them to develop a growth factor receptor
+ xeroderma	n	1	[ congenital_disease ]	eng-30-14537563-n	a mild form of ichthyosis characterized by abnormal dryness and roughness of the skin
+ xeroderma_pigmentosum	n	1	[ congenital_disease ]	eng-30-14537735-n	a rare genetic condition characterized by an eruption of exposed skin occurring in childhood and photosensitivity with severe sunburn; inherited as a recessive autosomal trait in which DNA repair processes are defective so they are more likely to chromosome breaks and cancers when exposed to ultraviolet light
+ xerodermia	n	1	[ congenital_disease ]	eng-30-14537563-n	a mild form of ichthyosis characterized by abnormal dryness and roughness of the skin

Seminario de Lingüística Informática - Grupo TALG, Universidade de Vigo, 2019
Deseño e programación: Xavier Gómez Guinovart & Miguel Solla