Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Fanconi Anemia, Complementation Group J |
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Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Immunodeficiency 54 |
|
Hepatomegaly, Chromosome breakage, Splenomegaly, Lymphadenopathy, Reduced natural killer cell count |
OMIM:609981 |
Fanconi Anemia, Complementation Group V |
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Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Chromosomal breakage induced ... |
OMIM:617243 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
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Abnormality of chromosome stability, Pancytopenia |
OMIM:600546 |
Fanconi Anemia, Complementation Group D1 |
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Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Acute myeloid leukemia, Chromo... |
OMIM:605724 |
Nijmegen Breakage Syndrome-Like Disorder |
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Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Scleroderma, Familial Progressive |
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Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Fanconi Anemia, Complementation Group G |
|
Neutropenia, Anemia, Thrombocytopenia, Leukemia, Abnormality of chromosome stability |
OMIM:614082 |
Chromosomal Instability With Tissue-Specific Radiosensitivity |
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Abnormality of chromosome stability |
OMIM:215510 |
N Syndrome |
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Leukemia, Abnormality of chromosome stability |
OMIM:310465 |
Fanconi Anemia, Complementation Group Q |
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Biliary atresia, Bone marrow hypocellularity, Chromosome breakage |
OMIM:615272 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Transcobalamin Deficiency |
|
Neutropenia, Lymphopenia, Pancytopenia, Thrombocytopenia, Abnormality of chromosome stability |
ORPHA:859 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
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Leukemia, Abnormality of the thymus, Chromosome breakage, Abnormality of chromosome stability |
OMIM:208910 |
Fanconi Anemia, Complementation Group S |
|
Anemia, Chromosome breakage |
OMIM:617883 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage |
OMIM:613390 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Fanconi Anemia, Complementation Group N |
|
Chromosomal breakage induced by crosslinking agents, Aplastic anemia |
OMIM:610832 |
Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Neutropenia |
OMIM:609053 |
Ataxia-Telangiectasia |
|
Aplasia/Hypoplasia of the thymus, Lymphopenia, Abnormality of chromosome stability |
ORPHA:100 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
Fanconi Anemia, Complementation Group E |
|
Thrombocytopenia, Pancytopenia, Neutropenia, Chromosomal breakage induced by crosslinking agents,... |
OMIM:600901 |
Fanconi Anemia, Complementation Group F |
|
Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Chromosomal breakage induced b... |
OMIM:603467 |
Fanconi Anemia, Complementation Group L |
|
Bone marrow hypocellularity, Anemia, Chromosome breakage, Chromosomal breakage induced by crossli... |
OMIM:614083 |
Fanconi Anemia, Complementation Group A |
|
Thrombocytopenia, Pancytopenia, Neutropenia, Chromosomal breakage induced by crosslinking agents,... |
OMIM:227650 |
Fanconi Anemia, Complementation Group C |
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Neutropenia, Thrombocytopenia, Pancytopenia, Bone marrow hypocellularity, Anemia, Leukemia, Retic... |
OMIM:227645 |
Lig4 Syndrome |
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Hepatomegaly, Leukocytosis, Pancytopenia, Lymphadenopathy, Acute leukemia, Abnormality of chromos... |
ORPHA:99812 |
Bloom Syndrome |
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Chromosome breakage, Elevated hemoglobin A1c, Leukemia, Hepatic steatosis, Abnormality of chromos... |
OMIM:210900 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Neutropenia, Thrombocytopenia, Pancytopenia, Bone marrow hypocellularity, Anemi... |
OMIM:227646 |
Icf Syndrome |
|
Abnormality of neutrophils, Anemia, Lymphopenia, Abnormality of chromosome stability |
ORPHA:2268 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Riddle Syndrome |
|
Chromosomal breakage induced by ionizing radiation, Generalized lymphadenopathy |
ORPHA:420741 |
Gracile Bone Dysplasia |
|
Hypoplastic spleen, Asplenia |
OMIM:602361 |
Fanconi Anemia, Complementation Group B |
|
Thrombocytopenia, Aplastic anemia, Abnormality of chromosome stability |
OMIM:300514 |
Revesz Syndrome |
|
Bone marrow hypocellularity, Aplastic anemia, Abnormality of chromosome stability |
OMIM:268130 |
Mirage Syndrome |
|
Lymphopenia, Leukopenia, Hypoplastic spleen, Anemia, Thrombocytopenia |
OMIM:617053 |
Meningioma |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:2495 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormality of the pancreas, Neutropenia, Anemia, Abnormality of chromosome stability |
ORPHA:175 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Splenomegaly, Anemia, Pancreatic fi... |
ORPHA:699 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia, Abnormality of c... |
ORPHA:647 |
Fanconi Anemia |
|
Leukopenia, Anemia, Thrombocytopenia, Pyridoxine-responsive sideroblastic anemia, Abnormality of ... |
ORPHA:84 |