MCID: MGP001
MIFTS: 15

Megaepiphyseal Dwarfism

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Megaepiphyseal Dwarfism

MalaCards integrated aliases for Megaepiphyseal Dwarfism:

Name: Megaepiphyseal Dwarfism 56 52 29 71
Mega-Epiphyseal Dwarfism 74

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive
? variant of oto-spondylo-megaepiphyseal dysplasia (215150)


HPO:

31
megaepiphyseal dwarfism:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 249230
MedGen 41 C1855310
UMLS 71 C1855310

Summaries for Megaepiphyseal Dwarfism

MalaCards based summary : Megaepiphyseal Dwarfism, also known as mega-epiphyseal dwarfism, is related to otospondylomegaepiphyseal dysplasia, autosomal recessive, and has symptoms including arthralgia Affiliated tissues include bone, and related phenotypes are abnormal facial shape and cleft palate

Wikipedia : 74 Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive disorder of bone growth that... more...

More information from OMIM: 249230

Related Diseases for Megaepiphyseal Dwarfism

Diseases related to Megaepiphyseal Dwarfism via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 otospondylomegaepiphyseal dysplasia, autosomal recessive 11.4

Symptoms & Phenotypes for Megaepiphyseal Dwarfism

Human phenotypes related to Megaepiphyseal Dwarfism:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 31 HP:0001999
2 cleft palate 31 HP:0000175
3 epicanthus 31 HP:0000286
4 abnormality of the skeletal system 31 HP:0000924
5 severe short stature 31 HP:0003510
6 inferior lens subluxation 31 HP:0008494

Symptoms via clinical synopsis from OMIM:

56
Skel:
short stature
large joints

H E E N T:
cleft palate
inferior lens subluxation
epicanthal folds
snub nose
unusual facies

Clinical features from OMIM:

249230

UMLS symptoms related to Megaepiphyseal Dwarfism:


arthralgia

Drugs & Therapeutics for Megaepiphyseal Dwarfism

Search Clinical Trials , NIH Clinical Center for Megaepiphyseal Dwarfism

Genetic Tests for Megaepiphyseal Dwarfism

Genetic tests related to Megaepiphyseal Dwarfism:

# Genetic test Affiliating Genes
1 Megaepiphyseal Dwarfism 29

Anatomical Context for Megaepiphyseal Dwarfism

MalaCards organs/tissues related to Megaepiphyseal Dwarfism:

40
Bone

Publications for Megaepiphyseal Dwarfism

Articles related to Megaepiphyseal Dwarfism:

# Title Authors PMID Year
1
Megepiphyseal dwarfism. 56
4729988 1973

Variations for Megaepiphyseal Dwarfism

Expression for Megaepiphyseal Dwarfism

Search GEO for disease gene expression data for Megaepiphyseal Dwarfism.

Pathways for Megaepiphyseal Dwarfism

GO Terms for Megaepiphyseal Dwarfism

Sources for Megaepiphyseal Dwarfism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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