Diseases

Name Orphanumber Description XREF(s)
Primary dystonia, DYT13 type 98807 A rare primary torsion dystonia… Orphanet, ICD-10, OMIM
Autosomal dominant dopa-responsive dystonia 98808 A rare neurometabolic disorder… Orphanet, OMIM, OMIM, ICD-10
Paroxysmal kinesigenic dyskinesia 98809 Paroxysmal kinesigenic dyskinesia (PKD… Orphanet, ICD-10, OMIM, OMIM
Paroxysmal non-kinesigenic dyskinesia 98810 Paroxysmal non-kinesigenic dyskinesia (… Orphanet, MeSH, MedDRA, OMIM, OMIM, MedDRA, ICD-10
Paroxysmal exertion-induced dyskinesia 98811 Paroxysmal exertion-induced dyskinesia… Orphanet, OMIM, ICD-10
Hypohidrotic ectodermal dysplasia with immunodeficiency 98813 A rare ectodermal dysplasia syndrome… Orphanet, OMIM, OMIM, ICD-10
Landau-Kleffner syndrome 98818 Landau-Kleffner syndrome (LKS) is an… Orphanet, ICD-10, MeSH, OMIM, MedDRA
Familial focal epilepsy with variable foci 98820 Familial focal epilepsy with variable… Orphanet, OMIM, OMIM, OMIM, ICD-10
Chronic myelomonocytic leukemia 98823 A rare myelodysplastic/… Orphanet, ICD-10, MeSH, MedDRA
Atypical chronic myeloid leukemia 98824 A rare myelodysplastic/… Orphanet, MeSH, ICD-10, MedDRA
Refractory anemia 98826 Refractory cytopenias with unilineage… Orphanet, MedDRA, MeSH, ICD-10
Unclassified myelodysplastic syndrome 98827 Unclassified myelodysplastic syndrome (… Orphanet, ICD-10
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 11q23 abnormalities 98831 A rare tumor arising from hematopoietic… Orphanet, ICD-10
Acute myeloid leukemia with minimal differentiation 98832 A rare subtype of acute myeloid… Orphanet, ICD-10
Acute myeloblastic leukemia without maturation 98833 A rare, acute myeloid leukemia… Orphanet, ICD-10
Acute myeloblastic leukemia with maturation 98834 A rare, acute myeloid leukemia… Orphanet, ICD-10
Acute undifferentiated leukemia 98835 A rare acute leukemia of ambiguous… Orphanet, MedDRA, ICD-10, OMIM
Primary mediastinal large B-cell lymphoma 98838 A rare subtype of diffuse large B-cell… Orphanet, MedDRA, ICD-10
Intravascular large B-cell lymphoma 98839 Intravascular large B-cell lymphoma (… Orphanet, ICD-10, MedDRA
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