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Diseases
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Name
Orphanumber
Description
XREF(s)
X-linked scapuloperoneal muscular dystrophy
431272
A rare, genetic, muscular dystrophy…
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OMIM
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ICD-10
X-linked retinoschisis
792
A rare disorder involving multiple…
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ICD-10
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OMIM
X-linked reticulate pigmentary disorder
85453
X-linked reticulate pigmentary disorder…
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X-linked recessive ocular albinism
54
X-linked recessive ocular albinism (…
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OMIM
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ICD-10
X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome
83648
An X-linked syndromic intellectual…
http://www.orpha.net/consor/cgi-bin/OC_…
X-linked progressive cerebellar ataxia
1175
A rare X-linked cerebellar ataxia,…
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X-linked parkinsonism-spasticity syndrome
363654
A rare, genetic, neurological disorder…
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X-linked osteoporosis with fractures
391330
A rare, genetic, primary bone dysplasia…
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X-linked Opitz G/BBB syndrome
306597
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X-linked non-syndromic intellectual disability
777
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X-linked non progressive cerebellar ataxia
314978
X-linked non progressive cerebellar…
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X-linked myotubular myopathy-abnormal genitalia syndrome
456328
X-linked myotubular myopathy-abnormal…
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X-linked myopathy with postural muscle atrophy
178461
X-linked myopathy with postural muscle…
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X-linked myopathy with excessive autophagy
25980
X-linked myopathy with excessive…
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X-linked mixed deafness with perilymphatic gusher
383
X-linked mixed deafness with…
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X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
435938
X-linked microcephaly-growth…
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ICD-10
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
319623
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X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
319612
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X-linked lymphoproliferative disease due to XIAP deficiency
538934
A rare, genetic, primary…
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X-linked lymphoproliferative disease due to SH2D1A deficiency
538931
A rare, genetic, primary…
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