Diseases

Name Orphanumber Description XREF(s)
Intermediate DEND syndrome 99989 A rare, genetic, neonatal diabetes… Orphanet
Squamous cell carcinoma of the esophagus 99977 Esophageal squamous cell carcinoma (… Orphanet, ICD-10, ICD-10, ICD-10, ICD-10, OMIM
Well-differentiated liposarcoma 99971 Well-differentiated liposarcoma (WDLS… Orphanet, ICD-10
Dedifferentiated liposarcoma 99970 Dedifferentiated liposarcoma (DDLS) is… Orphanet, ICD-10
Myxoid/round cell liposarcoma 99967 Myxoid/round cell liposarcoma (MRCLS)… Orphanet, OMIM, MeSH, ICD-10
Atypical teratoid rhabdoid tumor 99966 A rare, highly malignant central… Orphanet, ICD-10, OMIM
Benign recurrent intrahepatic cholestasis type 2 99961 Orphanet, MeSH, OMIM, ICD-10
Benign recurrent intrahepatic cholestasis type 1 99960 Orphanet, MeSH, OMIM, ICD-10
Charcot-Marie-Tooth disease type 4B2 99956 Charcot-Marie-Tooth disease type 4B2 (… Orphanet, MeSH, ICD-10, OMIM
Charcot-Marie-Tooth disease type 4B1 99955 Charcot-Marie-Tooth disease type 4B1 (… Orphanet, MeSH, ICD-10, OMIM
Charcot-Marie-Tooth disease type 4H 99954 Charcot-Marie-Tooth disease type 4H is… Orphanet, ICD-10, OMIM
Charcot-Marie-Tooth disease type 4G 99953 Charcot-Marie-Tooth disease type 4G (… Orphanet, ICD-10, OMIM
Charcot-Marie-Tooth disease type 4F 99952 Charcot-Marie-Tooth disease type 4F (… Orphanet, 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 4D 99950 Charcot-Marie-Tooth disease type 4D (… Orphanet, MeSH, OMIM, ICD-10
Charcot-Marie-Tooth disease type 4C 99949 Charcot-Marie-Tooth disease type 4C (… Orphanet, ICD-10, MeSH, OMIM
Charcot-Marie-Tooth disease type 4A 99948 Charcot-Marie-Tooth disease type 4A (… Orphanet, MeSH, ICD-10, OMIM
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 99947 A subtype of Autosomal dominant Charcot… 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 2L 99945 A form of axonal Charcot-Marie-Tooth… Orphanet, ICD-10, OMIM
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