Diseases

Name Orphanumber Description XREF(s)
Woolly hair nevus 79414 Woolly hair nevus (WHN) is a rare non-… Orphanet, OMIM, ICD-10
Woolly hair-palmoplantar keratoderma syndrome 420686 Woolly hair-palmoplantar keratoderma… Orphanet, OMIM, ICD-10
Wrinkly skin syndrome 2834 Wrinkly skin syndrome (WSS) is… Orphanet, MeSH, OMIM, ICD-10
Xanthinuria type II 93602 Type II xanthinuria, a type of… Orphanet, ICD-10, OMIM
Xanthinuria type I 93601 Type I xanthinuria, a type of classical… Orphanet, ICD-10, OMIM
Xeroderma pigmentosum 910 Xeroderma pigmentosum (XP) is a rare… Orphanet, MeSH, MedDRA, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM
Xeroderma pigmentosum variant 90342 Xeroderma pigmentosum variant is a… Orphanet, MeSH, OMIM, ICD-10
Xeroderma pigmentosum-Cockayne syndrome complex 220295 Xeroderma pigmentosum/Cockayne syndrome… Orphanet, OMIM, OMIM, OMIM, OMIM
X-linked acrogigantism due to Xq26 microduplication 448372 Orphanet, ICD-10, OMIM
X-linked adrenal hypoplasia congenita 95702 A rare genetic adrenal disease… Orphanet, ICD-10, OMIM, OMIM
X-linked agammaglobulinemia 47 A clinically variable form of isolated… Orphanet, MeSH, OMIM, OMIM, MedDRA, ICD-10
X-linked Alport syndrome 88917 Orphanet, MedDRA, ICD-10, OMIM
X-linked Alport syndrome 88917 Alport syndrome (AS) is an inherited…
X-linked Alport syndrome-diffuse leiomyomatosis 1018 A rare renal disease characterized by… Orphanet, ICD-10, OMIM, OMIM
X-linked central congenital hypothyroidism with late-onset testicular enlargement 329235 X-linked central congenital… Orphanet, ICD-10, OMIM
X-linked centronuclear myopathy 596 A rare X-linked congenital myopathy… Orphanet, ICD-10, MeSH, OMIM
X-linked cerebral adrenoleukodystrophy 139396 A progressive peroxisomal disease,… Orphanet, OMIM, ICD-10
X-linked Charcot-Marie-Tooth disease type 6 352675 X-linked Charcot-Marie-Tooth disease… Orphanet, OMIM, ICD-10
X-linked Charcot-Marie-Tooth disease type 5 99014 A rare form of X-linked Charcot-Marie-… Orphanet, ICD-10, OMIM
X-linked Charcot-Marie-Tooth disease type 4 101078 X-linked Charcot-Marie-Tooth disease… Orphanet, ICD-10, OMIM