Diseases

Name Orphanumber Description XREF(s)
C syndrome 1308 C syndrome is a rare multiple… Orphanet, OMIM, ICD-10
3C syndrome 7 Cranio-cerebello-cardiac (3C) syndrome… Orphanet, MeSH, ICD-10, OMIM, OMIM, OMIM, OMIM
CK syndrome 251383 CK syndrome is a rare, genetic, X-… Orphanet, ICD-10, OMIM
3M syndrome 2616 A rare primordial growth disorder… Orphanet, OMIM, OMIM, OMIM, ICD-10
H syndrome 168569 A rare cutaneous disease and a systemic… Orphanet, ICD-10, OMIM
Syndrome d'auto-immunité-auto-inflammation-immunodéficience à début précoce 619948
Syndrome de Loeys-Dietz 60030 Loeys-Dietz syndrome is a rare genetic… ORPHANET
FG syndrome type 1 93932 A rare X-linked syndromic intellectual… Orphanet, MeSH, ICD-10, OMIM
Syndromic congenital sodium diarrhea 563708 A rare, genetic, syndromic intestinal… Orphanet, ICD-10, ICD-10
Syndromic diarrhea 84064 A rare gastroenterologic disease… Orphanet, ICD-10, OMIM, OMIM
Syndromic microphthalmia type 5 178364 Syndromic microphthalmia, type 5 is… Orphanet, ICD-10, OMIM
Syndromic multisystem autoimmune disease due to Itch deficiency 228426 Syndromic multisystem autoimmune… Orphanet, OMIM, ICD-10
Syndromic recessive X-linked ichthyosis 281090 A rare genetic skin disease belonging… Orphanet, OMIM, ICD-10
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect 457223 A rare mitochondrial disease… Orphanet, ICD-10, OMIM
SYNGAP1-related developmental and epileptic encephalopathy 544254 A rare genetic developmental and… Orphanet
Synovial sarcoma 3273 Synovial sarcoma is an aggressive soft… Orphanet, OMIM, MedDRA, ICD-10
Synpolydactyly type 1 295195 Orphanet, ICD-10, OMIM, ICD-10
Synpolydactyly type 2 295197 Orphanet, ICD-10, ICD-10, OMIM
Syringocystadenoma papilliferum 840 A rare non-malignant adnexal neoplasm… Orphanet, ICD-10, MedDRA
Systemic lupus erythematosus 536 Orphanet, OMIM, OMIM, ICD-10, ICD-10, ICD-10, ICD-10, MeSH
Download XLSX
Download PDF