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[Congenital cataract in genetically determined syndromes]. 1967

W Böke, and F Hilgenberg

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
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
D002386 Cataract Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed) Cataract, Membranous,Lens Opacities,Pseudoaphakia,Cataracts,Cataracts, Membranous,Lens Opacity,Membranous Cataract,Membranous Cataracts,Opacities, Lens,Opacity, Lens,Pseudoaphakias
D002493 Central Nervous System Diseases Diseases of any component of the brain (including the cerebral hemispheres, diencephalon, brain stem, and cerebellum) or the spinal cord. CNS Disease,Central Nervous System Disease,Central Nervous System Disorder,CNS Diseases,Central Nervous System Disorders
D002806 Chondrodysplasia Punctata A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form. Chondrodystrophia Calcificans Congenita,Conradi-Hunermann Syndrome,Dysplasia Epiphysialis Punctata,Epiphyses, Stippled,Stippled Epiphyses,Chondrodysplasia Punctata 2, X-Linked,Chondrodysplasia Punctata 2, X-Linked Dominant,Conradi Hunermann Happle Syndrome,Conradi-Hunermann-Happle Syndrome,Conradi-Hünermann Syndrome,Conradi-Hünermann-Happle Syndrome,Happle Syndrome,Hunermann-Conradi Syndrome,X-Linked Chondrodysplasia Punctata 2,X-Linked Dominant Chondrodysplasia Punctata,Chondrodysplasia Punctata 2, X Linked,Chondrodysplasia Punctata 2, X Linked Dominant,Conradi Hunermann Syndrome,Conradi Hünermann Happle Syndrome,Conradi Hünermann Syndrome,Conradi-Hunermann-Happle Syndromes,Conradi-Hünermann Syndromes,Conradi-Hünermann-Happle Syndromes,Hunermann Conradi Syndrome,X Linked Chondrodysplasia Punctata 2,X Linked Dominant Chondrodysplasia Punctata
D005260 Female Females
D005693 Galactosemias A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3) Galactokinase Deficiency Disease,Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease,UDPglucose 4-Epimerase Deficiency Disease,Classic Galactosemia,Deficiency Disease, Galactokinase,Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase,Deficiency Disease, UDP-Galactose-4-Epimerase,Deficiency Disease, UDPglucose 4-Epimerase,Epimerase Deficiency Galactosemia,GALE Deficiency,GALK Deficiency,GALT Deficiency,Galactokinase Deficiency,Galactose Epimerase Deficiency,Galactose-1-Phosphate Uridyltransferase Deficiency,Galactose-1-Phosphate Uridylyltransferase Deficiency,Galactosemia,Galactosemia 2,Galactosemia 3,Galactosemia III,Galactosemia, Classic,Hereditary Galactokinase Deficiency,UDP-Galactose-4-Epimerase Deficiency,UDP-Galactose-4-Epimerase Deficiency Disease,UDPGlucose Hexose-1-Phosphate Uridylyltransferase Deficiency,UTP Hexose-1-Phosphate Uridylyltransferase Deficiency,UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency Disease,Classic Galactosemias,Deficiencies, GALE,Deficiencies, GALK,Deficiencies, GALT,Deficiencies, Galactokinase,Deficiencies, Galactose Epimerase,Deficiencies, Galactose-1-Phosphate Uridyltransferase,Deficiencies, Galactose-1-Phosphate Uridylyltransferase,Deficiencies, Hereditary Galactokinase,Deficiencies, UDP-Galactose-4-Epimerase,Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase,Deficiency Disease, UDP Galactose 4 Epimerase,Deficiency Disease, UDPglucose 4 Epimerase,Deficiency Diseases, UDP-Galactose-4-Epimerase,Deficiency Galactosemia, Epimerase,Deficiency Galactosemias, Epimerase,Deficiency, GALE,Deficiency, GALK,Deficiency, GALT,Deficiency, Galactokinase,Deficiency, Galactose Epimerase,Deficiency, Galactose-1-Phosphate Uridyltransferase,Deficiency, Galactose-1-Phosphate Uridylyltransferase,Deficiency, Hereditary Galactokinase,Deficiency, UDP-Galactose-4-Epimerase,Epimerase Deficiency Galactosemias,GALE Deficiencies,GALK Deficiencies,GALT Deficiencies,Galactokinase Deficiencies,Galactokinase Deficiencies, Hereditary,Galactokinase Deficiency Diseases,Galactokinase Deficiency, Hereditary,Galactose 1 Phosphate Uridyl Transferase Deficiency Disease,Galactose 1 Phosphate Uridyltransferase Deficiency,Galactose 1 Phosphate Uridylyltransferase Deficiency,Galactose Epimerase Deficiencies,Galactose-1-Phosphate Uridyltransferase Deficiencies,Galactose-1-Phosphate Uridylyltransferase Deficiencies,Galactosemia 2s,Galactosemia 3s,Galactosemia IIIs,Galactosemia, Epimerase Deficiency,Galactosemias, Classic,Galactosemias, Epimerase Deficiency,Hereditary Galactokinase Deficiencies,UDP Galactose 4 Epimerase Deficiency,UDP Galactose 4 Epimerase Deficiency Disease,UDP-Galactose-4-Epimerase Deficiencies,UDP-Galactose-4-Epimerase Deficiency Diseases,UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency,UDPglucose 4 Epimerase Deficiency Disease,UTP Hexose 1 Phosphate Uridylyltransferase Deficiency,UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease,Uridyltransferase Deficiencies, Galactose-1-Phosphate,Uridyltransferase Deficiency, Galactose-1-Phosphate,Uridylyltransferase Deficiencies, Galactose-1-Phosphate,Uridylyltransferase Deficiency, Galactose-1-Phosphate
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000013 Congenital Abnormalities Malformations of organs or body parts during development in utero. Birth Defects,Congenital Defects,Deformities,Fetal Anomalies,Fetal Malformations,Abnormalities, Congenital,Defects, Congenital,Abnormality, Congenital,Anomaly, Fetal,Birth Defect,Congenital Abnormality,Congenital Defect,Defect, Birth,Defect, Congenital,Deformity,Fetal Anomaly,Fetal Malformation,Malformation, Fetal

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