| 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 |
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| 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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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| 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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| 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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