MCID: ATS363
MIFTS: 6

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to...

MalaCards integrated aliases for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation:

Name: Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 58
Cmt2 Due to Dgat2 Mutation 58

Classifications:

Orphanet: 58  
Rare neurological diseases


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Orphanet 58 ORPHA487814

Summaries for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to...

MalaCards based summary : Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation, is also known as cmt2 due to dgat2 mutation. An important gene associated with Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation is DGAT2 (Diacylglycerol O-Acyltransferase 2).

Related Diseases for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to...

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate a
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Recessive Intermediate B Charcot-Marie-Tooth Disease, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2a Charcot-Marie-Tooth Disease Type 2a2b
Charcot-Marie-Tooth Disease Type 1g Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Dnajb2-Related Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Symptoms & Phenotypes for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to...

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GO Terms for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to...

Sources for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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