H00005 Chronic lymphocytic leukemia
H02418 Non-Hodgkin lymphoma
H00019 Pancreatic cancer
H00038 Melanoma
H00031 Breast cancer
H02531 Familial breast-ovarian cancer
H01132 Aplastic anemia
H00238 Fanconi anemia
H00507 Dyskeratosis congenita
H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related
H00092 T-B-Severe combined immunodeficiency
H01244 T+B+Severe combined immunodeficiencies (SCIDs)
H02554 Omenn syndrome
H00924 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
H02015 LIG4 syndrome
H00064 Ataxia telangiectasia
H00094 Immunodeficiency associated with DNA repair defects
H00962 RIDDLE syndrome
H01344 Nijmegen breakage syndrome
H01346 Bloom syndrome
H02014 Ataxia-telangiectasia-like syndrome
H00768 Autosomal recessive intellectual developmental disorder
H01395 Autosomal recessive progressive external ophthalmoplegia
H00604 Deafness, autosomal dominant
H00627 Premature ovarian failure
H02492 Microcephaly, growth restriction, and increased sister chromatid exchange
H00992 Seckel syndrome
H01889 Meier-Gorlin syndrome
H01733 Werner syndrome
H02576 Familial cutaneous telangiectasia and cancer syndrome
H02578 Short stature, microcephaly, and endocrine dysfunction
H02639 Atelis syndrome
H01623 MDPL syndrome
H00296 Defects in RecQ helicases
|