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 50
 
Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria 52

Characteristics:

Orphanet epidemiological data:

52
metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria:
Inheritance: Not applicable; Age of onset: Childhood,Infancy,Neonatal

Classifications:



External Ids:

OMIM50 614875
Orphanet52 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:50 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 aciduria10.3

Symptoms 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

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

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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet