| D009154 |
Mutation |
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. |
Mutations |
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| D009190 |
Myelodysplastic Syndromes |
Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA. |
Dysmyelopoietic Syndromes,Hematopoetic Myelodysplasia,Dysmyelopoietic Syndrome,Hematopoetic Myelodysplasias,Myelodysplasia, Hematopoetic,Myelodysplasias, Hematopoetic,Myelodysplastic Syndrome,Syndrome, Dysmyelopoietic,Syndrome, Myelodysplastic,Syndromes, Dysmyelopoietic,Syndromes, Myelodysplastic |
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| D002872 |
Chromosome Deletion |
Actual loss of portion of a chromosome. |
Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies |
|
| D002888 |
Chromosomes, Human, Pair 19 |
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification. |
Chromosome 19 |
|
| D002895 |
Chromosomes, Human, Pair 5 |
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5). |
Chromosome 5 |
|
| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
|
| D012269 |
Ribosomal Proteins |
Proteins found in ribosomes. They are believed to have a catalytic function in reconstituting biologically active ribosomal subunits. |
Proteins, Ribosomal,Ribosomal Protein,Protein, Ribosomal |
|
| D012270 |
Ribosomes |
Multicomponent ribonucleoprotein structures found in the CYTOPLASM of all cells, and in MITOCHONDRIA, and PLASTIDS. They function in PROTEIN BIOSYNTHESIS via GENETIC TRANSLATION. |
Ribosome |
|
| D029503 |
Anemia, Diamond-Blackfan |
A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94) |
Diamond-Blackfan Anemia,Anemia, Congenital Hypoplastic, Of Blackfan And Diamond,Anemia, Diamond-Blackfan Type,Blackfan Diamond Anemia,Blackfan-Diamond Disease,Blackfan-Diamond Syndrome,Chronic Congenital Agenerative Anemia,Congenital Erythroid Hypoplastic Anemia,Congenital Hypoplastic Anemia of Blackfan and Diamond,Congenital Pure Red Cell Anemia,Congenital Pure Red Cell Aplasia,Erythrogenesis Imperfecta,Hypoplastic Congenital Anemia,Inherited Erythroblastopenia,Pure Hereditary Red Cell Aplasia,Red Cell Aplasia, Pure, Hereditary,Anemia, Blackfan Diamond,Anemia, Diamond Blackfan,Anemia, Diamond Blackfan Type,Anemia, Hypoplastic Congenital,Anemias, Hypoplastic Congenital,Blackfan Diamond Disease,Blackfan Diamond Syndrome,Congenital Anemia, Hypoplastic,Congenital Anemias, Hypoplastic,Diamond Anemia, Blackfan,Diamond Blackfan Anemia,Diamond-Blackfan Type Anemia,Disease, Blackfan-Diamond,Erythroblastopenia, Inherited,Erythroblastopenias, Inherited,Erythrogenesis Imperfectas,Hypoplastic Congenital Anemias,Imperfecta, Erythrogenesis,Imperfectas, Erythrogenesis,Inherited Erythroblastopenias |
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