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Diseases
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Name
Orphanumber
Description
XREF(s)
Autosomal dominant epilepsy with auditory features
101046
A rare, genetic, familial partial…
Orphanet
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ICD-10
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OMIM
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OMIM
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OMIM
Familial hypocalciuric hypercalcemia type 2
101049
Orphanet
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ICD-10
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MeSH
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OMIM
Familial hypocalciuric hypercalcemia type 3
101050
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MeSH
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ICD-10
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OMIM
Situs inversus totalis
101063
A rare, genetic, developmental defect…
Orphanet
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ICD-10
Congenital stromal corneal dystrophy
101068
Congenital stromal corneal dystrophy (…
Orphanet
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OMIM
,
ICD-10
Bilateral frontoparietal polymicrogyria
101070
Bilateral frontoparietal polymicrogyria…
Orphanet
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OMIM
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ICD-10
X-linked Charcot-Marie-Tooth disease type 1
101075
X-linked Charcot-Marie-Tooth disease…
Orphanet
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OMIM
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MeSH
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ICD-10
X-linked Charcot-Marie-Tooth disease type 4
101078
X-linked Charcot-Marie-Tooth disease…
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ICD-10
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OMIM
Charcot-Marie-Tooth disease type 1A
101081
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ICD-10
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OMIM
Charcot-Marie-Tooth disease type 1B
101082
Charcot-Marie-Tooth disease type 1B (…
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ICD-10
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OMIM
Charcot-Marie-Tooth disease type 1C
101083
A rare, autosomal dominant, hereditary…
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ICD-10
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MeSH
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OMIM
Charcot-Marie-Tooth disease type 1D
101084
Charcot-Marie-Tooth disease type 1D (…
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MeSH
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ICD-10
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OMIM
Charcot-Marie-Tooth disease type 1F
101085
Charcot-Marie-Tooth disease type 1F (…
Orphanet
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ICD-10
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OMIM
X-linked hyper-IgM syndrome
101088
Orphanet
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ICD-10
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OMIM
Hyper-IgM syndrome type 2
101089
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ICD-10
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OMIM
Hyper-IgM syndrome type 3
101090
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ICD-10
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OMIM
Hyper-IgM syndrome type 5
101092
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ICD-10
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OMIM
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
101097
A severe, early-onset form of axonal…
Orphanet
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OMIM
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OMIM
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ICD-10
Charcot-Marie-Tooth disease type 2B2
101101
Charcot-Marie-Tooth disease, type 2B2 (…
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MeSH
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OMIM
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ICD-10
Charcot-Marie-Tooth disease type 2H
101102
Charcot-Marie-Tooth disease, type 2H (…
Orphanet
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OMIM
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MeSH
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ICD-10
Pagination
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