Diseases

Name Orphanumber Description XREF(s)
Congenital dyserythropoietic anemia type II 98873 Congenital dyserythropoietic anemia… Orphanet, OMIM, ICD-10
Congenital dyserythropoietic anemia type III 98870 Congenital dyserythropoietic anemia… Orphanet, ICD-10, OMIM
Congenital dyserythropoietic anemia type I 98869 Congenital dyserythropoietic anemiatype… Orphanet, OMIM, OMIM, ICD-10
Southeast Asian ovalocytosis 98868 Southeast Asian ovalocytosis (SAO) is a… Orphanet, OMIM, ICD-10
X-linked Emery-Dreifuss muscular dystrophy 98863 Orphanet, ICD-10, OMIM, OMIM
Charcot-Marie-Tooth disease type 2B1 98856 Charcot-Marie-Tooth disease, type 2B1 (… Orphanet, MeSH, OMIM, ICD-10
Autosomal recessive Emery-Dreifuss muscular dystrophy 98855 Orphanet, MeSH, ICD-10, OMIM
Autosomal dominant Emery-Dreifuss muscular dystrophy 98853 Orphanet, ICD-10, OMIM, OMIM, OMIM, OMIM
Aggressive systemic mastocytosis 98850 A rare, aggressive form of advanced… Orphanet, MedDRA, ICD-10
Systemic mastocytosis with associated hematologic neoplasm 98849 An advanced form of systemic… Orphanet, ICD-10
Classic Hodgkin lymphoma, nodular sclerosis type 98843 Orphanet, ICD-10
Lymphomatoid papulosis 98842 Lymphomatoid papulosis (LyP) is a rare… Orphanet, MeSH, MedDRA, ICD-10
Intravascular large B-cell lymphoma 98839 Intravascular large B-cell lymphoma (… Orphanet, ICD-10, MedDRA
Primary mediastinal large B-cell lymphoma 98838 A rare subtype of diffuse large B-cell… Orphanet, MedDRA, ICD-10
Acute undifferentiated leukemia 98835 A rare acute leukemia of ambiguous… Orphanet, MedDRA, ICD-10, OMIM
Acute myeloblastic leukemia with maturation 98834 A rare, acute myeloid leukemia… Orphanet, ICD-10
Acute myeloblastic leukemia without maturation 98833 A rare, 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 11q23 abnormalities 98831 A rare tumor arising from hematopoietic… 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
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