Diseases

Name Orphanumber Description XREF(s)
Acute myeloid leukemia with t(8;16)(p11;p13) translocation 370026 A distinct form of Acute myeloid… Orphanet
Acute myeloid leukemia with t(8;21)(q22;q22) translocation 102724 A rare acute myeloid leukemia with… Orphanet, ICD-10
Acute myeloid leukemia with t(9;11)(p22;q23) 402017 A tumor of hematopoietic and lymphoid… Orphanet
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 98829 A rare acute myeloid leukemia (AML)… Orphanet, ICD-10
Acute myeloid leukemia with CEBPA somatic mutations 319480 A subtype of acute myeloid leukemia… Orphanet, OMIM, ICD-10
Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) 402020 A subtype of acute myeloid leukemia… Orphanet, ICD-10
Acute myeloid leukemia with minimal differentiation 98832 A rare subtype of acute myeloid… Orphanet, ICD-10
Acute myeloid leukemia with NPM1 somatic mutations 402026 A subtype of acute myeloid leukemia… Orphanet
Acute necrotizing encephalopathy of childhood 263524 A rare neurologic disease characterized… Orphanet, ICD-10, OMIM
Acute neonatal citrullinemia type I 247546 A severe form of citrullinemia type 1… Orphanet
Acute promyelocytic leukemia 520 An aggressive form of acute myeloid… Orphanet, MedDRA, OMIM, MeSH, ICD-10
Acute undifferentiated leukemia 98835 A rare acute leukemia of ambiguous… Orphanet, MedDRA, ICD-10, OMIM
Acyl-CoA dehydrogenase 9 deficiency 99901 A rare disorder characterized by… Orphanet, OMIM, ICD-10
ACys amyloidosis 100008 A form of hereditary cerebral… Orphanet, ICD-10, ICD-10, OMIM
Adams-Oliver syndrome 974 A rare disorder characterized by the… Orphanet, ICD-10, MeSH, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM
ADan amyloidosis 97346 A rare, neurodegenerative disease… Orphanet, MeSH, OMIM, ICD-10, ICD-10
Adenine phosphoribosyltransferase deficiency 976 A rare genetic nephropathy secondary to… Orphanet, ICD-10, OMIM
Adenocarcinoma of ovary 213504 Orphanet, ICD-10, MedDRA
Adenosine monophosphate deaminase deficiency 45 A rare metabolic disorder for which two… Orphanet, OMIM, OMIM, MeSH, ICD-10
Adenylosuccinate lyase deficiency 46 A disorder of purine metabolism… Orphanet, ICD-10, OMIM, MeSH
Download XLSX
Download PDF