ATLD1 | H02014 | Ataxia-telangiectasia-like syndrome |
NBSLD | H01344 | Nijmegen breakage syndrome |
NBS | H01344 | Nijmegen breakage syndrome |
AA | H01132 | Aplastic anemia |
AT | H00064 | Ataxia telangiectasia |
CLL | H00005 | Chronic lymphocytic leukemia |
MRT38 | H00768 | Autosomal recessive intellectual developmental disorder |
RIDDLE | H00962 | RIDDLE syndrome |
SCKL2 | H00992 | Seckel syndrome |
WRN | H01733 | Werner syndrome |
RecQ | H00296 | Defects in RecQ helicases |
SCKL8 | H00992 | Seckel syndrome |
PFBMFT6 | H02569 | Pulmonary fibrosis and/or bone marrow failure, telomere-related |
SCKL1 | H00992 | Seckel syndrome |
FCTS | H02576 | Familial cutaneous telangiectasia and cancer syndrome |
BC | H00031 | Breast cancer |
PNCA4 | H00019 | Pancreatic cancer |
BROVCA1 | H02531 | Familial breast-ovarian cancer |
FANCS | H00238 | Fanconi anemia |
PNCA2 | H00019 | Pancreatic cancer |
BROVCA2 | H02531 | Familial breast-ovarian cancer |
FANCD | H00238 | Fanconi anemia |
PNCA3 | H00019 | Pancreatic cancer |
FANCN | H00238 | Fanconi anemia |
FANCR | H00238 | Fanconi anemia |
BROVCA3 | H02531 | Familial breast-ovarian cancer |
FANCO | H00238 | Fanconi anemia |
BROVCA4 | H02531 | Familial breast-ovarian cancer |
FANCU | H00238 | Fanconi anemia |
POF17 | H00627 | Premature ovarian failure |
CMM6 | H00038 | Melanoma |
NHL | H02418 | Non-Hodgkin lymphoma |
ATLD2 | H02014 | Ataxia-telangiectasia-like syndrome |
MDPL | H01623 | MDPL syndrome |
MGRISCE1 | H02492 | Microcephaly, growth restriction, and increased sister chromatid exchange |
BLM | H01346 | Bloom syndrome |
MGRISCE2 | H02492 | Microcephaly, growth restriction, and increased sister chromatid exchange |
PEOB5 | H01395 | Autosomal recessive progressive external ophthalmoplegia |
FANCP | H00238 | Fanconi anemia |
DKCA4 | H00507 | Dyskeratosis congenita |
PFBMFT3 | H02569 | Pulmonary fibrosis and/or bone marrow failure, telomere-related |
DFNA70 | H00604 | Deafness, autosomal dominant |
IMD54 | H00094 | Immunodeficiency associated with DNA repair defects |
MGORS8 | H01889 | Meier-Gorlin syndrome |
SCID | H00092 | T-B-Severe combined immunodeficiency |
OMENN | H01244 | T+B+Severe combined immunodeficiencies (SCIDs) |
| H02554 | Omenn syndrome |
LIG4 | H02015 | LIG4 syndrome |
SSMED | H02578 | Short stature, microcephaly, and endocrine dysfunction |