Diseases

Name Orphanumber Description XREF(s)
Lymphomatoid papulosis 98842 Lymphomatoid papulosis (LyP) is a rare… Orphanet, MeSH, MedDRA, ICD-10
Classic Hodgkin lymphoma, nodular sclerosis type 98843 Orphanet, ICD-10
Systemic mastocytosis with associated hematologic neoplasm 98849 An advanced form of systemic… Orphanet, ICD-10
Aggressive systemic mastocytosis 98850 A rare, aggressive form of advanced… Orphanet, MedDRA, ICD-10
Autosomal dominant Emery-Dreifuss muscular dystrophy 98853 Orphanet, ICD-10, OMIM, OMIM, OMIM, OMIM
Autosomal recessive Emery-Dreifuss muscular dystrophy 98855 Orphanet, MeSH, ICD-10, OMIM
Charcot-Marie-Tooth disease type 2B1 98856 Charcot-Marie-Tooth disease, type 2B1 (… Orphanet, MeSH, OMIM, ICD-10
X-linked Emery-Dreifuss muscular dystrophy 98863 Orphanet, ICD-10, OMIM, OMIM
Southeast Asian ovalocytosis 98868 Southeast Asian ovalocytosis (SAO) is a… Orphanet, OMIM, ICD-10
Congenital dyserythropoietic anemia type I 98869 Congenital dyserythropoietic anemiatype… Orphanet, OMIM, OMIM, ICD-10
Congenital dyserythropoietic anemia type III 98870 Congenital dyserythropoietic anemia… Orphanet, ICD-10, OMIM
Congenital dyserythropoietic anemia type II 98873 Congenital dyserythropoietic anemia… Orphanet, OMIM, ICD-10
Hemophilia A 98878 Hemophilia A is the most common form of… Orphanet
Hemophilia B 98879 Hemophilia B is a form of hemophilia (… Orphanet
Familial afibrinogenemia 98880 Familial afibrinogenemia is a… Orphanet, OMIM, ICD-10
Familial dysfibrinogenemia 98881 Familial dysfibrinogenemia is a… Orphanet, OMIM, ICD-10
Bleeding diathesis due to glycoprotein VI deficiency 98885 Orphanet, OMIM, ICD-10
Bilateral perisylvian polymicrogyria 98889 Orphanet, ICD-10, OMIM, OMIM, OMIM
Early-onset X-linked optic atrophy 98890 Early-onset X-linked optic atrophy is a… Orphanet, ICD-10, OMIM
Periventricular nodular heterotopia 98892 Periventricular nodular heterotopia (… Orphanet, OMIM, OMIM, OMIM, MeSH, OMIM, OMIM, OMIM, OMIM, OMIM, MedDRA, ICD-10
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