Diseases

Name Orphanumber Description XREF(s)
Autosomal dominant Charcot-Marie-Tooth disease type 2K 99944 An axonal Charcot-Marie-Tooth (CMT)… Orphanet, ICD-10, OMIM
Autosomal dominant Charcot-Marie-Tooth disease type 2J 99943 A form of axonal Charcot-Marie-Tooth… Orphanet, ICD-10, OMIM
Autosomal dominant Charcot-Marie-Tooth disease type 2I 99942 A form of axonal Charcot-Marie-Tooth… Orphanet, ICD-10, OMIM
Autosomal dominant Charcot-Marie-Tooth disease type 2F 99940 A form of axonal Charcot-Marie-Tooth… Orphanet, ICD-10, OMIM
Autosomal dominant Charcot-Marie-Tooth disease type 2E 99939 A form of axonal Charcot-Marie-Tooth… Orphanet, ICD-10, OMIM
Autosomal dominant Charcot-Marie-Tooth disease type 2D 99938 A form of axonal Charcot-Marie-Tooth… Orphanet, ICD-10, OMIM
Autosomal dominant Charcot-Marie-Tooth disease type 2C 99937 A form of axonal Charcot-Marie-Tooth… Orphanet, ICD-10, OMIM
Autosomal dominant Charcot-Marie-Tooth disease type 2B 99936 A severe form of axonal Charcot-Marie-… Orphanet, ICD-10, OMIM
Malignant Sertoli-Leydig cell tumor of the ovary 99916 A rare malignant sex cord stromal tumor… Orphanet, ICD-10
Maligant granulosa cell tumor of the ovary 99915 A rare malignant sex cord stromal tumor… Orphanet, MeSH, ICD-10
Gynandroblastoma 99914 Orphanet, ICD-10, ICD-10
Acyl-CoA dehydrogenase 9 deficiency 99901 A rare disorder characterized by… Orphanet, OMIM, ICD-10
Long chain acyl-CoA dehydrogenase deficiency 99900 Orphanet, MeSH, ICD-10
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency 99898 Mendelian susceptibility to… Orphanet, OMIM, MeSH, ICD-10
Acute megakaryoblastic leukemia in Down syndrome 99887 Orphanet, ICD-10
Transient neonatal diabetes mellitus 99886 Transient neonatal diabetes mellitus (… Orphanet, OMIM, OMIM, OMIM, ICD-10
Isolated permanent neonatal diabetes mellitus 99885 Permanent neonatal diabetes mellitus (… Orphanet, OMIM, OMIM, ICD-10, OMIM, OMIM
Hyperparathyroidism-jaw tumor syndrome 99880 A rare genetic disease characterized by… Orphanet, ICD-10, OMIM
Familial isolated hyperparathyroidism 99879 A rare, hereditary, familial primary… Orphanet, OMIM, MeSH, OMIM, OMIM, OMIM, ICD-10, OMIM
Hashimoto-Pritzker syndrome 99872 Hashimoto-Pritzker histiocytosis (HPH)… Orphanet, MeSH, ICD-10
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