| D010022 |
Osteopetrosis |
Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY). |
Albers-Schoenberg Disease,Marble Bone Disease,Osteosclerosis Fragilis,Albers-Schonberg Disease,Albers-Schonberg Disease, Autosomal Dominant,Albers-Schönberg Disease,Autosomal Dominant Osteopetrosis Type 2,Congenital Osteopetrosis,Marble Bones, Autosomal Dominant,Osteopetrosis Autosomal Dominant Type 2,Osteopetrosis, Autosomal Dominant 2,Osteopetrosis, Autosomal Dominant, Type II,Osteosclerosis Fragilis Generalisata,Albers Schoenberg Disease,Albers Schonberg Disease,Albers Schonberg Disease, Autosomal Dominant,Albers Schönberg Disease,Disease, Albers-Schoenberg,Disease, Albers-Schonberg,Disease, Albers-Schönberg,Disease, Marble Bone,Osteopetroses,Osteosclerosis Fragilis Generalisatas |
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| D002239 |
Carbohydrate Metabolism, Inborn Errors |
Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero. |
Carbohydrate Metabolism, Inborn Error |
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| D002807 |
Chondroitin |
A mucopolysaccharide constituent of chondrin. (Grant & Hackh's Chemical Dictionary, 5th ed) |
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| D002973 |
Cleidocranial Dysplasia |
Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies. |
Cleidocranial Dysostosis,Dysostosis, Cleidocranial,Cleidocranial Digital Dysostosis,Marie-Sainton Syndrome,Scheuthauer-Marie-Sainton Syndrome,Cleidocranial Digital Dysostoses,Cleidocranial Dysostoses,Cleidocranial Dysplasias,Dysostoses, Cleidocranial,Dysostoses, Cleidocranial Digital,Dysostosis, Cleidocranial Digital,Dysplasia, Cleidocranial,Dysplasias, Cleidocranial,Marie Sainton Syndrome,Scheuthauer Marie Sainton Syndrome,Syndrome, Marie-Sainton,Syndrome, Scheuthauer-Marie-Sainton |
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| D003937 |
Diagnosis, Differential |
Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. |
Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis |
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| D006025 |
Glycosaminoglycans |
Heteropolysaccharides which contain an N-acetylated hexosamine in a characteristic repeating disaccharide unit. The repeating structure of each disaccharide involves alternate 1,4- and 1,3-linkages consisting of either N-acetylglucosamine (see ACETYLGLUCOSAMINE) or N-acetylgalactosamine (see ACETYLGALACTOSAMINE). |
Glycosaminoglycan,Mucopolysaccharides |
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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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