Biomaterial Database

Diagnostic/genetic studies in severe mental retardation. 1978

J M Opitz, and E G Kaveggia, and M V Durkin-Stamm, and E Pendleton

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007621	Karyotyping	Mapping of the KARYOTYPE of a cell.	Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297	Male		Males
D008607	Intellectual Disability	Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)	Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D008661	Metabolism, Inborn Errors	Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.	Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002490	Central Nervous System	The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges.	Cerebrospinal Axis,Axi, Cerebrospinal,Axis, Cerebrospinal,Central Nervous Systems,Cerebrospinal Axi,Nervous System, Central,Nervous Systems, Central,Systems, Central Nervous
D002547	Cerebral Palsy	A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)	Diplegic Infantile Cerebral Palsy,Little Disease,Monoplegic Cerebral Palsy,Quadriplegic Infantile Cerebral Palsy,Spastic Diplegia,CP (Cerebral Palsy),Cerebral Palsy, Athetoid,Cerebral Palsy, Atonic,Cerebral Palsy, Congenital,Cerebral Palsy, Diplegic, Infantile,Cerebral Palsy, Dyskinetic,Cerebral Palsy, Dystonic-Rigid,Cerebral Palsy, Hypotonic,Cerebral Palsy, Mixed,Cerebral Palsy, Monoplegic, Infantile,Cerebral Palsy, Quadriplegic, Infantile,Cerebral Palsy, Rolandic Type,Cerebral Palsy, Spastic,Congenital Cerebral Palsy,Diplegia, Spastic,Infantile Cerebral Palsy, Diplegic,Infantile Cerebral Palsy, Monoplegic,Infantile Cerebral Palsy, Quadriplegic,Little's Disease,Monoplegic Infantile Cerebral Palsy,Rolandic Type Cerebral Palsy,Athetoid Cerebral Palsy,Atonic Cerebral Palsy,Cerebral Palsies, Athetoid,Cerebral Palsies, Dyskinetic,Cerebral Palsies, Dystonic-Rigid,Cerebral Palsies, Monoplegic,Cerebral Palsy, Dystonic Rigid,Cerebral Palsy, Monoplegic,Diplegias, Spastic,Dyskinetic Cerebral Palsy,Dystonic-Rigid Cerebral Palsies,Dystonic-Rigid Cerebral Palsy,Hypotonic Cerebral Palsies,Hypotonic Cerebral Palsy,Mixed Cerebral Palsies,Mixed Cerebral Palsy,Monoplegic Cerebral Palsies,Spastic Cerebral Palsies,Spastic Cerebral Palsy,Spastic Diplegias
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children