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Diseases
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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
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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
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MeSH
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MedDRA
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ICD-10
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OMIM
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OMIM
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OMIM
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OMIM
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OMIM
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OMIM
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OMIM
Xeroderma pigmentosum variant
90342
Xeroderma pigmentosum variant is a…
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,
MeSH
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OMIM
,
ICD-10
Xeroderma pigmentosum-Cockayne syndrome complex
220295
Xeroderma pigmentosum/Cockayne syndrome…
Orphanet
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OMIM
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OMIM
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OMIM
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OMIM
X-linked acrogigantism due to Xq26 microduplication
448372
Orphanet
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ICD-10
,
OMIM
X-linked adrenal hypoplasia congenita
95702
A rare genetic adrenal disease…
Orphanet
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ICD-10
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OMIM
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OMIM
X-linked agammaglobulinemia
47
A clinically variable form of isolated…
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MeSH
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OMIM
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OMIM
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MedDRA
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ICD-10
X-linked Alport syndrome
88917
Orphanet
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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…
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ICD-10
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OMIM
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OMIM
X-linked central congenital hypothyroidism with late-onset testicular enlargement
329235
X-linked central congenital…
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ICD-10
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OMIM
X-linked centronuclear myopathy
596
A rare X-linked congenital myopathy…
Orphanet
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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
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