Diseases

Name Orphanumber Description XREF(s)
X-linked Alport syndrome 88917 Orphanet, MedDRA, ICD-10, OMIM
X-linked agammaglobulinemia 47 A clinically variable form of isolated… Orphanet, MeSH, OMIM, OMIM, MedDRA, ICD-10
X-linked adrenal hypoplasia congenita 95702 A rare genetic adrenal disease… Orphanet, ICD-10, OMIM, OMIM
X-linked acrogigantism due to Xq26 microduplication 448372 Orphanet, ICD-10, OMIM
Xeroderma pigmentosum-Cockayne syndrome complex 220295 Xeroderma pigmentosum/Cockayne syndrome… Orphanet, OMIM, OMIM, OMIM, OMIM
Xeroderma pigmentosum variant 90342 Xeroderma pigmentosum variant is a… Orphanet, MeSH, OMIM, ICD-10
Xeroderma pigmentosum 910 Xeroderma pigmentosum (XP) is a rare… Orphanet, MeSH, MedDRA, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM
Xanthinuria type I 93601 Type I xanthinuria, a type of classical… Orphanet, ICD-10, OMIM
Xanthinuria type II 93602 Type II xanthinuria, a type of… Orphanet, ICD-10, OMIM
Wrinkly skin syndrome 2834 Wrinkly skin syndrome (WSS) is… Orphanet, MeSH, OMIM, ICD-10
Woolly hair-palmoplantar keratoderma syndrome 420686 Woolly hair-palmoplantar keratoderma… Orphanet, OMIM, ICD-10
Woolly hair nevus 79414 Woolly hair nevus (WHN) is a rare non-… Orphanet, OMIM, ICD-10
Woolly hair 170 A rare congenital skin disease defined… Orphanet, MeSH, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM, MedDRA
Woodhouse-Sakati syndrome 3464 Woodhouse-Sakati syndrome is a… Orphanet, ICD-10, MeSH, OMIM
Wolman disease 75233 A severe form of lysosomal acid lipase… Orphanet, OMIM, MeSH, MedDRA, ICD-10
Wolfram-like syndrome 411590 Wolfram-like syndrome is a rare… Orphanet, ICD-10, OMIM
Wolfram syndrome 3463 A rare, genetic, endocrine disorder… Orphanet, ICD-10, MeSH, OMIM, OMIM, OMIM
Wolf-Hirschhorn syndrome 280 A developmental disorder characterized… Orphanet, MeSH, MeSH, OMIM, MedDRA, ICD-10
Wolcott-Rallison syndrome 1667 Wolcott-Rallison syndrome (WRS) is a… Orphanet, OMIM, MeSH, ICD-10
Wiskott-Aldrich syndrome 906 A primary immunodeficiency disease… Orphanet, MeSH, MedDRA, ICD-10, OMIM, OMIM, OMIM
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