Diseases

Name Orphanumber Description XREF(s)
X-linked sideroblastic anemia and spinocerebellar ataxia 2802 A rare syndromic, inherited form of… Orphanet, OMIM, ICD-10
X-linked spastic paraplegia type 34 171607 X-linked spastic paraplegia type 34 is… Orphanet, OMIM, ICD-10
X-linked spastic paraplegia type 16 100997 A complex, hereditary, spastic… Orphanet, OMIM, MeSH, ICD-10
X-linked spasticity-intellectual disability-epilepsy syndrome 3175 A rare ARX-related epileptic… Orphanet, OMIM, ICD-10
X-linked spondyloepimetaphyseal dysplasia 93349 A rare, genetic primary bone dysplasia… Orphanet, ICD-10, OMIM
X-linked thrombocytopenia with normal platelets 852 Orphanet, ICD-10, OMIM
Xq21 microdeletion syndrome 1435 An X-linked retinal dystrophy… Orphanet, OMIM, ICD-10
Xq25 microduplication syndrome 521258 A rare, X-linked, multiple congenital… Orphanet
Xq27.3q28 duplication syndrome 261483 Xq27.3q28 duplication syndrome is a… Orphanet, ICD-10, OMIM
XYLT1-CDG 370930 XYLT1-CDG is a rare congenital disorder… Orphanet
Young adult-onset distal hereditary motor neuropathy 314485 Young adult-onset distal hereditary… Orphanet, OMIM, ICD-10, OMIM
Young-onset Parkinson disease 2828 A rare, genetic, parkinsonian disorder… Orphanet, OMIM, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM
Yunis-Varon syndrome 3472 A rare, genetic, multiple congenital… Orphanet, ICD-10, OMIM, MeSH
Zebra body myopathy 97240 Zebra body myopathy is a benign… Orphanet, ICD-10
Zellweger syndrome 912 A rare peroxisome biogenesis disorder (… Orphanet, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, MeSH, ICD-10
Zimmermann-Laband syndrome 3473 A rare genetic multiple congenital… Orphanet, ICD-10, OMIM, OMIM, OMIM
Zygodactyly type 3 295191 Orphanet, ICD-10, ICD-10, ICD-10, ICD-10
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