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Cystinuria in mentally retarded siblings with atypical osteogenesis imperfecta. 1959

H K BERRY

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008499 Medical Records Recording of pertinent information concerning patient's illness or illnesses. Health Diaries,Medical Transcription,Records, Medical,Transcription, Medical,Diaries, Health,Diary, Health,Health Diary,Medical Record,Medical Transcriptions,Record, Medical,Transcriptions, Medical
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
D010013 Osteogenesis Imperfecta COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I. Fragilitas Ossium,Lobstein Disease,Brittle Bone Disease,Lobstein's Disease,Osteogenesis Imperfecta Tarda,Osteogenesis Imperfecta with Blue Sclerae,Osteogenesis Imperfecta, Type 1,Osteogenesis Imperfecta, Type I,Disease, Lobstein,Disease, Lobstein's,Lobsteins Disease,Ossiums, Fragilitas,Osteogenesis Imperfecta Tardas
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003555 Cystinuria An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1. Cystinurias
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D019989 Persons with Mental Disabilities Persons diagnosed as having significantly lower than average intelligence and considerable problems in adapting to everyday life or lacking independence in regard to activities of daily living. Intellectually Disabled Persons,Mentally Disabled,Mentally Disabled Persons,Mentally Handicapped,Persons with Intellectual Disability,Mentally Retarded,Disabled Persons, Intellectually,Disabled, Mentally,Intellectually Disabled Person,Mentally Disabled Person,Person, Mentally Disabled,Persons, Intellectually Disabled,Persons, Mentally Disabled
D035781 Siblings Persons or animals having at least one parent in common. (American College Dictionary, 3d ed) Brothers,Sisters,Brother,Sibling,Sister

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