MCID: MTP033

Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria malady

Categories: Bone diseases, Fetal diseases, Rare diseases

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

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

Name: Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 52
 
Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria 54

Characteristics:

Orphanet epidemiological data:

54
metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria:
Inheritance: Not applicable; Age of onset: Childhood,Infancy,Neonatal

Classifications:



External Ids:

OMIM52 614875
Orphanet54 ORPHA99646

Summaries for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

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

Description from OMIM:52 614875

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

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

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

Symptoms & Phenotypes for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

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Clinical features from OMIM:

614875

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

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Interventional clinical trials:

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

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

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

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

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Bone

Publications for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

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Variations for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

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

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

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

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

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Sources for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet