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entity go
that which is perceived or known or inferred to have its own distinct existence (living or nonliving)

abstraction, abstract entity go
a general concept formed by extracting common features from specific examples

attribute go
an abstraction belonging to or characteristic of an entity

state go
the way something is with respect to its main attributes

condition, status go
a state at a particular time

physical condition, physiological state, physiological condition go
the condition or state of the body or bodily functions

pathological state go
a physical condition that is caused by disease

ill health, unhealthiness, health problem go
a state in which you are unable to function normally and without pain

illness, unwellness, malady, sickness go
impairment of normal physiological function affecting part or all of an organism

disease go
an impairment of health or a condition of abnormal functioning

genetic disease, genetic disorder, genetic abnormality, genetic defect, congenital disease, inherited disease, inherited disorder, hereditary disease, hereditary condition go
a disease or disorder that is inherited genetically

autosomal recessive disease, autosomal recessive defect
a disease caused by the presence of two recessive mutant genes on an autosome

noun.state

6 Subcategories

limb-girdle muscular dystrophy go
an autosomal recessive form of muscular dystrophy that appears anywhere from late childhood to middle age
Niemann-Pick disease go
a disorder of lipid metabolism that is inherited as an autosomal recessive trait
Tay-Sachs disease, Tay-Sachs, Sachs disease, infantile amaurotic idiocy go
a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe
thrombasthenia go
a rare autosomal recessive disease in which the platelets do not produce clots in the normal way and hemorrhage results
tyrosinemia go
autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation
Werdnig-Hoffman disease go
autosomal recessive disease in which the degeneration of spinal nerve cells and brain nerve cells leads to atrophy of skeletal muscles and flaccid paralysis