Hyperonyms
(has_hyperonym)
|
14070360-n:
an impairment of health or a condition of abnormal functioning
|
Hyponyms
(has_hyponym)
|
14074877-n:
an inherited disease controlled by a single pair of genes
|
Hyponyms
(has_hyponym)
|
14075199-n:
an inherited disease controlled by several genes at once
|
Hyponyms
(has_hyponym)
|
14121804-n:
an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
|
Hyponyms
(has_hyponym)
|
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
|
Hyponyms
(has_hyponym)
|
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
|
Hyponyms
(has_hyponym)
|
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
|
Hyponyms
(has_hyponym)
|
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
|
Hyponyms
(has_hyponym)
|
14158594-n:
a genetic disorder characterized by high levels of beta-lipoproteins and cholesterol; can lead to atherosclerosis at an early age
|
Hyponyms
(has_hyponym)
|
14158997-n:
any of several congenital diseases in which the skin is dry and scaly like a fish
|
Hyponyms
(has_hyponym)
|
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
|
Hyponyms
(has_hyponym)
|
14160179-n:
an inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle; results in weakness and cramping
|
Hyponyms
(has_hyponym)
|
14160365-n:
any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles
|
Hyponyms
(has_hyponym)
|
14160665-n:
congenital condition in which some fingers or toes are missing
|
Hyponyms
(has_hyponym)
|
14160786-n:
congenital condition in which some of the teeth are missing
|
Hyponyms
(has_hyponym)
|
14160903-n:
hereditary disorder in which ossification of the labyrinth of the inner ear causes tinnitus and eventual deafness
|
Hyponyms
(has_hyponym)
|
14162025-n:
a disease caused by a dominant mutant gene on an autosome
|
Hyponyms
(has_hyponym)
|
14162275-n:
a disease caused by the presence of two recessive mutant genes on an autosome
|
Hyponyms
(has_hyponym)
|
14164866-n:
a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow
|
Hyponyms
(has_hyponym)
|
14169128-n:
a congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death
|
Hyponyms
(has_hyponym)
|
14171492-n:
a rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma
|
Hyponyms
(has_hyponym)
|
14210119-n:
an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated
|
Hyponyms
(has_hyponym)
|
14367797-n:
thickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction
|
Hyponyms
(has_hyponym)
|
14506403-n:
a genetic abnormality resulting in short stature
|
Hyponyms
(has_hyponym)
|
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
|
Hyponyms
(has_hyponym)
|
14507651-n:
a genetic abnormality of metabolism causing abdominal pains and mental confusion
|
Hyponyms
(has_hyponym)
|
14569121-n:
a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain
|
Hyponyms
(has_hyponym)
|
80000344-n:
|
Hyponyms
(has_hyponym)
|
80000345-n:
|
Hyponyms
(has_hyponym)
|
80001112-n:
an inherited autosomal recessive disease that is characterized by the formation of cystine stones in the kidneys, ureter, and bladder.
|
Glosses
(gloss)
|
00123924-r:
by genetic mechanisms
|
Glosses
(gloss)
|
02315759-v:
receive by genetic transmission
|
Glosses
(gloss)
|
14052403-n:
a physical condition in which there is a disturbance of normal functioning
|
Glosses
(gloss)
|
14070360-n:
an impairment of health or a condition of abnormal functioning
|
Glosses
(rgloss)
|
00153288-n:
any of the diagnostic procedures used to determine whether a fetus has a genetic abnormality
|
Glosses
(rgloss)
|
02332954-n:
a mouse with a genetic defect that prevents them from growing hair and also prevents them from immunologically rejecting human cells and tissues; widely used in preclinical trials
|
Glosses
(rgloss)
|
06651302-n:
guidance for prospective parents on the likelihood of genetic disorders in their future children
|
Glosses
(rgloss)
|
10472447-n:
an achondroplastic dwarf whose small size is the result of a genetic defect; body parts and mental and sexual development are normal
|
Glosses
(rgloss)
|
14074877-n:
an inherited disease controlled by a single pair of genes
|
Glosses
(rgloss)
|
14075199-n:
an inherited disease controlled by several genes at once
|
Glosses
(rgloss)
|
14085220-n:
injury to the brain that impairs its functions (especially permanently); can be caused by trauma to the head, infection, hemorrhage, inadequate oxygen, genetic abnormality, etc.
|
Glosses
(rgloss)
|
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
|
Glosses
(rgloss)
|
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
|
Glosses
(rgloss)
|
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
|
Glosses
(rgloss)
|
14156134-n:
a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth
|
Glosses
(rgloss)
|
14156976-n:
hereditary disease; develops in adulthood and ends in dementia
|
Glosses
(rgloss)
|
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
|
Glosses
(rgloss)
|
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
|
Glosses
(rgloss)
|
14157782-n:
hereditary condition in which certain anesthetics (e.g., halothane) cause high body temperatures and muscle rigidity
|
Glosses
(rgloss)
|
14158594-n:
a genetic disorder characterized by high levels of beta-lipoproteins and cholesterol; can lead to atherosclerosis at an early age
|
Glosses
(rgloss)
|
14158997-n:
any of several congenital diseases in which the skin is dry and scaly like a fish
|
Glosses
(rgloss)
|
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
|
Glosses
(rgloss)
|
14160179-n:
an inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle; results in weakness and cramping
|
Glosses
(rgloss)
|
14160365-n:
any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles
|
Glosses
(rgloss)
|
14171176-n:
a form of hemophilia discovered by Erik von Willebrand; a genetic disorder that is inherited as an autosomal recessive trait; characterized by a deficiency of the coagulation factor and by mucosal bleeding
|
Glosses
(rgloss)
|
14210119-n:
an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated
|
Glosses
(rgloss)
|
14228712-n:
a rare hereditary condition marked by dark crusted patches (sometimes containing pus)
|
Glosses
(rgloss)
|
14306475-n:
syndrome in males that is characterized by small testes and long legs and enlarged breasts and reduced sperm production and mental retardation; a genetic defect in which an extra X chromosome (XXY) is present in the male
|
Glosses
(rgloss)
|
14506403-n:
a genetic abnormality resulting in short stature
|
Glosses
(rgloss)
|
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
|
Glosses
(rgloss)
|
14507651-n:
a genetic abnormality of metabolism causing abdominal pains and mental confusion
|
Glosses
(rgloss)
|
14569121-n:
a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain
|
