Diseases

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