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Diseases
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Orphanumber
Description
XREF(s)
Autosomal dominant Charcot-Marie-Tooth disease type 2K
99944
An axonal Charcot-Marie-Tooth (CMT)…
Orphanet
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ICD-10
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OMIM
Autosomal dominant Charcot-Marie-Tooth disease type 2J
99943
A form of axonal Charcot-Marie-Tooth…
Orphanet
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ICD-10
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OMIM
Autosomal dominant Charcot-Marie-Tooth disease type 2I
99942
A form of axonal Charcot-Marie-Tooth…
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ICD-10
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OMIM
Autosomal dominant Charcot-Marie-Tooth disease type 2F
99940
A form of axonal Charcot-Marie-Tooth…
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ICD-10
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OMIM
Autosomal dominant Charcot-Marie-Tooth disease type 2E
99939
A form of axonal Charcot-Marie-Tooth…
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ICD-10
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OMIM
Autosomal dominant Charcot-Marie-Tooth disease type 2D
99938
A form of axonal Charcot-Marie-Tooth…
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ICD-10
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OMIM
Autosomal dominant Charcot-Marie-Tooth disease type 2C
99937
A form of axonal Charcot-Marie-Tooth…
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ICD-10
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OMIM
Autosomal dominant Charcot-Marie-Tooth disease type 2B
99936
A severe form of axonal Charcot-Marie-…
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ICD-10
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OMIM
Malignant Sertoli-Leydig cell tumor of the ovary
99916
A rare malignant sex cord stromal tumor…
Orphanet
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ICD-10
Maligant granulosa cell tumor of the ovary
99915
A rare malignant sex cord stromal tumor…
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MeSH
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ICD-10
Gynandroblastoma
99914
Orphanet
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ICD-10
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ICD-10
Acyl-CoA dehydrogenase 9 deficiency
99901
A rare disorder characterized by…
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OMIM
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ICD-10
Long chain acyl-CoA dehydrogenase deficiency
99900
Orphanet
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MeSH
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ICD-10
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
99898
Mendelian susceptibility to…
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OMIM
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MeSH
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ICD-10
Acute megakaryoblastic leukemia in Down syndrome
99887
Orphanet
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ICD-10
Transient neonatal diabetes mellitus
99886
Transient neonatal diabetes mellitus (…
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OMIM
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OMIM
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OMIM
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ICD-10
Isolated permanent neonatal diabetes mellitus
99885
Permanent neonatal diabetes mellitus (…
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OMIM
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OMIM
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ICD-10
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OMIM
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OMIM
Hyperparathyroidism-jaw tumor syndrome
99880
A rare genetic disease characterized by…
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ICD-10
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OMIM
Familial isolated hyperparathyroidism
99879
A rare, hereditary, familial primary…
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OMIM
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MeSH
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OMIM
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OMIM
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OMIM
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ICD-10
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OMIM
Hashimoto-Pritzker syndrome
99872
Hashimoto-Pritzker histiocytosis (HPH)…
Orphanet
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MeSH
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ICD-10
Pagination
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