MCID: MTP022

Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria malady

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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Aliases & Descriptions for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria:

Name: Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria 51

Classifications:



External Ids:

Orphanet51 99646

Summaries for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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MalaCards based summary: Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria is related to d-2-hydroxyglutaric aciduria. An important gene associated with Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria is IDH1 (Isocitrate Dehydrogenase (NADP(+)) 1, Cytosolic). Affiliated tissues include bone.

Related Diseases for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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Diseases related to Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1d-2-hydroxyglutaric aciduria10.3

Symptoms for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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Drugs & Therapeutics for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

Genetic Tests for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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Anatomical Context for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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MalaCards organs/tissues related to Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria:

33
Bone

Animal Models for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria or affiliated genes

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Publications for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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Articles related to Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria:

idTitleAuthorsYear
1
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). (22025298)
2011

Variations for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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Expression for genes affiliated with Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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Search GEO for disease gene expression data for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria.

Pathways for genes affiliated with Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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GO Terms for genes affiliated with Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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Sources for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet