MCID: BRC020
MIFTS: 6

Brachydactylous Dwarfism Mseleni Type

Categories: Rare diseases

Aliases & Classifications for Brachydactylous Dwarfism Mseleni Type

MalaCards integrated aliases for Brachydactylous Dwarfism Mseleni Type:

Name: Brachydactylous Dwarfism Mseleni Type 20 71
Brachydactylous Dwarfs of Mseleni 20

Classifications:



External Ids:

UMLS 71 C2931420

Summaries for Brachydactylous Dwarfism Mseleni Type

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2619DefinitionMseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD.Visit the Orphanet disease page for more resources.

MalaCards based summary : Brachydactylous Dwarfism Mseleni Type, also known as brachydactylous dwarfs of mseleni, is related to mseleni joint disease and brachydactyly.

Related Diseases for Brachydactylous Dwarfism Mseleni Type

Diseases related to Brachydactylous Dwarfism Mseleni Type via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 3, show less)
# Related Disease Score Top Affiliating Genes
1 mseleni joint disease 11.4
2 brachydactyly 10.3
3 arthropathy 10.3

Symptoms & Phenotypes for Brachydactylous Dwarfism Mseleni Type

Drugs & Therapeutics for Brachydactylous Dwarfism Mseleni Type

Search Clinical Trials , NIH Clinical Center for Brachydactylous Dwarfism Mseleni Type

Genetic Tests for Brachydactylous Dwarfism Mseleni Type

Anatomical Context for Brachydactylous Dwarfism Mseleni Type

Publications for Brachydactylous Dwarfism Mseleni Type

Articles related to Brachydactylous Dwarfism Mseleni Type:

(showing 1, show less)
# Title Authors PMID Year
1
Brachydactylous dwarfs of Mseleni. 61
8362904 1993

Variations for Brachydactylous Dwarfism Mseleni Type

Expression for Brachydactylous Dwarfism Mseleni Type

Search GEO for disease gene expression data for Brachydactylous Dwarfism Mseleni Type.

Pathways for Brachydactylous Dwarfism Mseleni Type

GO Terms for Brachydactylous Dwarfism Mseleni Type

Sources for Brachydactylous Dwarfism Mseleni Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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