Diseases

Name Orphanumber Description XREF(s)
Acyl-CoA dehydrogenase 9 deficiency 99901 A rare disorder characterized by… Orphanet, OMIM, ICD-10
Gynandroblastoma 99914 Orphanet, ICD-10, ICD-10
Maligant granulosa cell tumor of the ovary 99915 A rare malignant sex cord stromal tumor… Orphanet, MeSH, ICD-10
Malignant Sertoli-Leydig cell tumor of the ovary 99916 A rare malignant sex cord stromal tumor… Orphanet, ICD-10
Autosomal dominant Charcot-Marie-Tooth disease type 2B 99936 A severe form of axonal Charcot-Marie-… 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 2D 99938 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 2F 99940 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 2J 99943 A form of axonal Charcot-Marie-Tooth… Orphanet, ICD-10, OMIM
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 2L 99945 A form of axonal Charcot-Marie-Tooth… Orphanet, ICD-10, OMIM
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 99946 A form of axonal Charcot-Marie-Tooth… Orphanet, ICD-10, OMIM
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 99947 A subtype of Autosomal dominant Charcot… Orphanet, ICD-10, OMIM
Charcot-Marie-Tooth disease type 4A 99948 Charcot-Marie-Tooth disease type 4A (… Orphanet, MeSH, ICD-10, OMIM
Charcot-Marie-Tooth disease type 4C 99949 Charcot-Marie-Tooth disease type 4C (… Orphanet, ICD-10, MeSH, OMIM
Charcot-Marie-Tooth disease type 4D 99950 Charcot-Marie-Tooth disease type 4D (… Orphanet, MeSH, OMIM, ICD-10
Charcot-Marie-Tooth disease type 4E 99951 Charcot-Marie-Tooth disease type 4E (… Orphanet, OMIM, MeSH, ICD-10
Charcot-Marie-Tooth disease type 4F 99952 Charcot-Marie-Tooth disease type 4F (… Orphanet, OMIM, ICD-10
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