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Disease association ontology term - MONDO:0015626 - Charcot-Marie-Tooth disease

Term summary

ID
MONDO:0015626
Name
Charcot-Marie-Tooth disease
Ontology or CV name
Disease association
Definition
An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.

Parents

Annotation

Disease association

MONDO:0015626 - Charcot-Marie-Tooth disease

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Genes:

MONDO:0014711 - autosomal dominant Charcot-Marie-Tooth disease type 2W

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Genes:

MONDO:0011687 - Charcot-Marie-Tooth disease axonal type 2F

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Genes:

MONDO:0012096 - Charcot-Marie-Tooth disease axonal type 2L

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Genes:

MONDO:0013212 - Charcot-Marie-Tooth disease axonal type 2N

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Genes:

MONDO:0013644 - Charcot-Marie-Tooth disease axonal type 2O

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Genes:

MONDO:0014511 - Charcot-Marie-Tooth disease axonal type 2S

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Genes:

MONDO:0014566 - Charcot-Marie-Tooth disease axonal type 2U

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Genes:

MONDO:0012012 - Charcot-Marie-Tooth disease dominant intermediate C

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Genes:

MONDO:0014074 - Charcot-Marie-Tooth disease dominant intermediate F

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Genes:

MONDO:0013338 - Charcot-Marie-Tooth disease recessive intermediate B

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MONDO:0014467 - Charcot-Marie-Tooth disease recessive intermediate D

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Genes:

MONDO:0012231 - Charcot-Marie-Tooth disease type 2A2

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Genes:

MONDO:0010949 - Charcot-Marie-Tooth disease type 2B

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Genes:

MONDO:0011570 - Charcot-Marie-Tooth disease type 2B2

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Genes:

MONDO:0011091 - Charcot-Marie-Tooth disease type 2D

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Genes:

MONDO:0014735 - Charcot-Marie-Tooth disease type 2Y

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Genes:

MONDO:0011066 - Charcot-Marie-Tooth disease type 4B1

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Genes:

MONDO:0011534 - Charcot-Marie-Tooth disease type 4G

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Genes:

MONDO:0012640 - Charcot-Marie-Tooth disease type 4J

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Genes:

MONDO:0014733 - Charcot-Marie-Tooth disease type 4K

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Genes:

MONDO:0010479 - Charcot-Marie-Tooth disease X-linked dominant 6

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Genes:

MONDO:0010689 - Charcot-Marie-Tooth disease X-linked recessive 4

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Genes:

MONDO:0010699 - Charcot-Marie-Tooth disease X-linked recessive 5

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Genes:

MONDO:0014906 - Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;

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Genes:

MONDO:0032728 - Charcot-Marie-Tooth disease, axonal, type 2EE

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Genes:

MONDO:0011675 - Charcot-Marie-Tooth Disease, axonal, type 2GG

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Genes:

MONDO:0980969 - Charcot-Marie-Tooth disease, axonal, type 2LL

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Genes:

MONDO:0980971 - charcot-marie-tooth disease, axonal, type 2MM

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Genes:

MONDO:0030677 - Charcot-Marie-Tooth disease, demyelinating, IIA 1I

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Genes:

MONDO:0011002 - neuropathy, hereditary motor and sensory, type 6A

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Genes: