Fraxf Syndrome |
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Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
N Syndrome |
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Abnormality of chromosome stability, Neoplasm, Leukemia |
OMIM:310465 |
Fanconi Anemia, Complementation Group D1 |
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Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... |
OMIM:605724 |
Fanconi Anemia, Complementation Group G |
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Abnormality of chromosome stability, Leukemia, Myelodysplasia |
OMIM:614082 |
Mosaic Variegated Aneuploidy Syndrome 4 |
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Abnormality of chromosome stability |
OMIM:620153 |
Nijmegen Breakage Syndrome-Like Disorder |
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Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Fanconi Anemia, Complementation Group T |
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Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
Xeroderma Pigmentosum, Complementation Group F |
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Seborrheic keratosis, Defective DNA repair after ultraviolet radiation damage, Keratoacanthoma, S... |
OMIM:278760 |
Scleroderma, Familial Progressive |
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Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Immunodeficiency 54 |
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Chromosome breakage, Lymphoproliferative disorder |
OMIM:609981 |
Xeroderma Pigmentosum, Complementation Group G |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Fanconi Anemia, Complementation Group J |
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Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Fanconi Anemia, Complementation Group S |
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Chromosome breakage, Ovarian carcinoma, Breast carcinoma, Ovarian neoplasm |
OMIM:617883 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
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Abnormality of chromosome stability |
OMIM:600546 |
Fanconi Anemia, Complementation Group N |
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Nephroblastoma, Medulloblastoma, Neuroblastoma, Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Radial-Renal Syndrome |
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Chromosome breakage |
OMIM:179280 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
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Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Fanconi Anemia, Complementation Group O |
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Chromosome breakage |
OMIM:613390 |
Fragile X Syndrome |
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Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Xeroderma Pigmentosum, Complementation Group E |
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Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Defective DNA repair after u... |
OMIM:278740 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
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Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
Fragile X Syndrome |
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Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Fanconi Anemia, Complementation Group V |
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Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Fanconi Anemia, Complementation Group U |
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Chromosome breakage, Patent ductus arteriosus |
OMIM:617247 |
Xeroderma Pigmentosum, Complementation Group C |
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Defective DNA repair after ultraviolet radiation damage, Basal cell carcinoma, Squamous cell carc... |
OMIM:278720 |
Fanconi Anemia, Complementation Group Q |
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Chromosome breakage |
OMIM:615272 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
Fanconi Anemia, Complementation Group P |
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Chromosomal breakage induced by crosslinking agents, Squamous cell carcinoma |
OMIM:613951 |
Bloom Syndrome |
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Chromosome breakage, Abnormality of chromosome stability, Lymphoma, Squamous cell carcinoma, Leuk... |
OMIM:210900 |
Transcobalamin Deficiency |
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Abnormality of chromosome stability |
ORPHA:859 |
Ataxia-Telangiectasia |
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Abnormality of chromosome stability, Neoplasm |
ORPHA:100 |
Nut Midline Carcinoma |
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Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Fanconi Anemia, Complementation Group E |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... |
OMIM:227650 |
Bone Marrow Failure Syndrome 3 |
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Acute myeloid leukemia, Chromosome breakage |
OMIM:617052 |
Xeroderma Pigmentosum, Complementation Group A |
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Melanoma, Squamous cell carcinoma of the skin, Defective DNA repair after ultraviolet radiation d... |
OMIM:278700 |
Fanconi Anemia, Complementation Group R |
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Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
Fanconi Anemia, Complementation Group I |
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Chromosomal breakage induced by crosslinking agents |
OMIM:609053 |
Fanconi Anemia, Complementation Group C |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... |
OMIM:227645 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Chromosomal breakage induced by crosslinking agents |
OMIM:620133 |
Lig4 Syndrome |
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Abnormality of chromosome stability, Lymphoma, Acute leukemia |
ORPHA:99812 |
Fanconi Anemia, Complementation Group D2 |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Patent ductus arteriosus, Leukemia, Ch... |
OMIM:227646 |
Xeroderma Pigmentosum, Complementation Group D |
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Melanoma, Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
Fanconi Anemia, Complementation Group L |
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Chromosome breakage, Chromosomal breakage induced by crosslinking agents |
OMIM:614083 |
Fanconi Anemia, Complementation Group F |
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Patent ductus arteriosus, Chromosomal breakage induced by crosslinking agents |
OMIM:603467 |
Meningioma |
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Neoplasm of the anterior pituitary, Neurofibroma, Chromosomal breakage induced by ionizing radiat... |
ORPHA:2495 |
De Sanctis-Cacchione Syndrome |
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Melanoma, Defective DNA repair after ultraviolet radiation damage |
OMIM:278800 |
Nijmegen Breakage Syndrome |
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Abnormality of chromosome stability, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphoma, T-cell ... |
ORPHA:647 |
Fanconi Anemia, Complementation Group B |
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Abnormality of chromosome stability, Patent ductus arteriosus |
OMIM:300514 |
Trichothiodystrophy |
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Defective DNA repair after ultraviolet radiation damage, Squamous cell carcinoma |
ORPHA:33364 |
Icf Syndrome |
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Abnormality of chromosome stability |
ORPHA:2268 |
Riddle Syndrome |
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Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
Xfe Progeroid Syndrome |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:610965 |
Revesz Syndrome |
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Abnormality of chromosome stability |
OMIM:268130 |
Cartilage-Hair Hypoplasia |
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Abnormality of chromosome stability |
ORPHA:175 |
Fanconi Anemia |
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Abnormality of chromosome stability, Patent ductus arteriosus, Neoplasm, Myelodysplasia |
ORPHA:84 |