MCID: MLT030
MIFTS: 10

Multiple Epiphyseal Dysplasia, Dominant

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Multiple Epiphyseal Dysplasia, Dominant

MalaCards integrated aliases for Multiple Epiphyseal Dysplasia, Dominant:

Name: Multiple Epiphyseal Dysplasia, Dominant 24 29

Classifications:



Summaries for Multiple Epiphyseal Dysplasia, Dominant

MalaCards based summary : Multiple Epiphyseal Dysplasia, Dominant is related to multiple epiphyseal dysplasia. An important gene associated with Multiple Epiphyseal Dysplasia, Dominant is MATN3 (Matrilin 3).

Related Diseases for Multiple Epiphyseal Dysplasia, Dominant

Symptoms & Phenotypes for Multiple Epiphyseal Dysplasia, Dominant

Drugs & Therapeutics for Multiple Epiphyseal Dysplasia, Dominant

Search Clinical Trials , NIH Clinical Center for Multiple Epiphyseal Dysplasia, Dominant

Genetic Tests for Multiple Epiphyseal Dysplasia, Dominant

Genetic tests related to Multiple Epiphyseal Dysplasia, Dominant:

id Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia, Dominant 29 24 MATN3

Anatomical Context for Multiple Epiphyseal Dysplasia, Dominant

Publications for Multiple Epiphyseal Dysplasia, Dominant

Articles related to Multiple Epiphyseal Dysplasia, Dominant:

id Title Authors Year
1
Multiple Epiphyseal Dysplasia, Dominant ( 20301302 )
1993

Variations for Multiple Epiphyseal Dysplasia, Dominant

ClinVar genetic disease variations for Multiple Epiphyseal Dysplasia, Dominant:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MATN3 NM_002381.4(MATN3): c.209G> A (p.Arg70His) single nucleotide variant Pathogenic rs104893640 GRCh37 Chromosome 2, 20212184: 20212184

Expression for Multiple Epiphyseal Dysplasia, Dominant

Search GEO for disease gene expression data for Multiple Epiphyseal Dysplasia, Dominant.

Pathways for Multiple Epiphyseal Dysplasia, Dominant

GO Terms for Multiple Epiphyseal Dysplasia, Dominant

Sources for Multiple Epiphyseal Dysplasia, Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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