Osteogenesis imperfecta associated with cutaneous pigmentation and other congenital malformations. 1958

G A FROMM, and H PARISIER, and J ROCA, and C A DEFILIPPI NOVOA

UI MeSH Term Description Entries
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
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
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
D012880 Skin Pigmentation Coloration of the skin. Skin Color,Skin Tone,Color, Skin,Colors, Skin,Pigmentation, Skin,Pigmentations, Skin,Skin Colors,Skin Pigmentations,Skin Tones,Tone, Skin,Tones, Skin

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