Hereditary deafness in man. 1969

B W Konigsmark

UI MeSH Term Description Entries
D006958 Hyperostosis, Cortical, Congenital A disease of young infants characterized by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remission and exacerbation. (Dorland, 27th ed) Caffey-De Toni-Silvermann Syndrome,Cortical Hyperostosis, Congenital,Infantile Cortical Hyperostosis,Caffey Disease,Congenital Hyperostosis, Cortical,Cortical Congenital Hyperostosis,Familial Caffey's Disease,Familial Infantile Cortical Hyperostosis,Caffey De Toni Silvermann Syndrome,Caffey's Disease, Familial,Congenital Cortical Hyperostoses,Congenital Cortical Hyperostosis,Congenital Hyperostoses, Cortical,Cortical Congenital Hyperostoses,Cortical Hyperostoses, Congenital,Cortical Hyperostoses, Infantile,Cortical Hyperostosis, Infantile,Disease, Caffey,Disease, Familial Caffey's,Familial Caffey Disease,Familial Caffeys Disease,Hyperostoses, Congenital Cortical,Hyperostoses, Cortical Congenital,Hyperostoses, Infantile Cortical,Hyperostosis, Congenital Cortical,Hyperostosis, Cortical Congenital,Hyperostosis, Infantile Cortical,Infantile Cortical Hyperostoses,Syndrome, Caffey-De Toni-Silvermann
D007455 Iodine A nonmetallic element of the halogen group that is represented by the atomic symbol I, atomic number 53, and atomic weight of 126.90. It is a nutritionally essential element, especially important in thyroid hormone synthesis. In solution, it has anti-infective properties and is used topically. Iodine-127,Iodine 127
D007592 Joint Diseases Diseases involving the JOINTS. Arthropathies,Arthropathy,Joint Disease
D007674 Kidney Diseases Pathological processes of the KIDNEY or its component tissues. Disease, Kidney,Diseases, Kidney,Kidney Disease
D008297 Male Males
D008342 Mandibulofacial Dysostosis A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) MFD1 Mandibulofacial Dysostosis,Treacher Collins Syndrome,Franceschetti-Zwahlen-Klein Syndrome,Mandibulofacial Dysostosis (MFD1),Treacher Collins-Franceschetti Syndrome,Dysostoses, MFD1 Mandibulofacial,Dysostoses, Mandibulofacial,Dysostoses, Mandibulofacial (MFD1),Dysostosis, MFD1 Mandibulofacial,Dysostosis, Mandibulofacial,Dysostosis, Mandibulofacial (MFD1),Franceschetti Zwahlen Klein Syndrome,Franceschetti-Zwahlen-Klein Syndromes,MFD1 Mandibulofacial Dysostoses,Mandibulofacial Dysostoses,Mandibulofacial Dysostoses (MFD1),Mandibulofacial Dysostoses, MFD1,Mandibulofacial Dysostosis, MFD1,Syndrome, Franceschetti-Zwahlen-Klein,Syndrome, Treacher Collins,Syndrome, Treacher Collins-Franceschetti,Syndromes, Franceschetti-Zwahlen-Klein,Syndromes, Treacher Collins-Franceschetti,Treacher Collins Franceschetti Syndrome,Treacher Collins-Franceschetti Syndromes
D008944 Mitral Valve Insufficiency Backflow of blood from the LEFT VENTRICLE into the LEFT ATRIUM due to imperfect closure of the MITRAL VALVE. This can lead to mitral valve regurgitation. Mitral Incompetence,Mitral Regurgitation,Mitral Valve Incompetence,Mitral Insufficiency,Mitral Valve Regurgitation,Incompetence, Mitral,Incompetence, Mitral Valve,Insufficiency, Mitral,Insufficiency, Mitral Valve,Regurgitation, Mitral,Regurgitation, Mitral Valve,Valve Incompetence, Mitral,Valve Insufficiency, Mitral,Valve Regurgitation, Mitral
D009393 Nephritis Inflammation of any part of the KIDNEY. Nephritides
D010001 Osteitis Deformans A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry. Paget's Disease of Bone,Osseous Paget's Disease,Paget Disease of Bone,Paget Disease, Bone,Pagets Disease, Bone
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

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