MCID: MLT142
MIFTS: 7

Multiple Epiphyseal Dysplasia, Autosomal Dominant

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

Aliases & Classifications for Multiple Epiphyseal Dysplasia, Autosomal Dominant

MalaCards integrated aliases for Multiple Epiphyseal Dysplasia, Autosomal Dominant:

Name: Multiple Epiphyseal Dysplasia, Autosomal Dominant 25

Characteristics:

GeneReviews:

25
Penetrance There is some evidence for reduced penetrance in med caused by matn3 pathogenic variants [mortier et al 2001, mäkitie et al 2004] while pathogenic variants in comp and the type ix collagen genes are believed to be fully penetrant...

Classifications:



Summaries for Multiple Epiphyseal Dysplasia, Autosomal Dominant

MalaCards based summary : Multiple Epiphyseal Dysplasia, Autosomal Dominant is related to multiple epiphyseal dysplasia. Affiliated tissues include bone.

GeneReviews: NBK1123

Related Diseases for Multiple Epiphyseal Dysplasia, Autosomal Dominant

Diseases in the Multiple Epiphyseal Dysplasia family:

Epiphyseal Dysplasia, Multiple, 1 Epiphyseal Dysplasia, Multiple, 4
Epiphyseal Dysplasia, Multiple, 2 Epiphyseal Dysplasia, Multiple, 3
Epiphyseal Dysplasia, Multiple, 5 Epiphyseal Dysplasia, Multiple, 6
Epiphyseal Dysplasia, Multiple, 7 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly
Multiple Epiphyseal Dysplasia, Autosomal Dominant Multiple Epiphyseal Dysplasia, Recessive

Diseases related to Multiple Epiphyseal Dysplasia, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 multiple epiphyseal dysplasia 11.4

Symptoms & Phenotypes for Multiple Epiphyseal Dysplasia, Autosomal Dominant

Drugs & Therapeutics for Multiple Epiphyseal Dysplasia, Autosomal Dominant

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

Genetic Tests for Multiple Epiphyseal Dysplasia, Autosomal Dominant

Anatomical Context for Multiple Epiphyseal Dysplasia, Autosomal Dominant

MalaCards organs/tissues related to Multiple Epiphyseal Dysplasia, Autosomal Dominant:

42
Bone

Publications for Multiple Epiphyseal Dysplasia, Autosomal Dominant

Variations for Multiple Epiphyseal Dysplasia, Autosomal Dominant

Expression for Multiple Epiphyseal Dysplasia, Autosomal Dominant

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

Pathways for Multiple Epiphyseal Dysplasia, Autosomal Dominant

GO Terms for Multiple Epiphyseal Dysplasia, Autosomal Dominant

Sources for Multiple Epiphyseal Dysplasia, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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