MCID: BRC024
MIFTS: 8

Brachydactyly Elbow Wrist Dysplasia

Categories: Rare diseases

Aliases & Classifications for Brachydactyly Elbow Wrist Dysplasia

MalaCards integrated aliases for Brachydactyly Elbow Wrist Dysplasia:

Name: Brachydactyly Elbow Wrist Dysplasia 49
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 69
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 49
Brachydactyly with Joint Dysplasia 49
Liebenberg Syndrome 49

Classifications:



External Ids:

UMLS 69 C1861313

Summaries for Brachydactyly Elbow Wrist Dysplasia

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Brachydactyly.

MalaCards based summary : Brachydactyly Elbow Wrist Dysplasia, also known as synostosis, carpal, with dysplastic elbow joints and brachydactyly, is related to liebenberg syndrome.

Related Diseases for Brachydactyly Elbow Wrist Dysplasia

Diseases related to Brachydactyly Elbow Wrist Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 liebenberg syndrome 11.5

Symptoms & Phenotypes for Brachydactyly Elbow Wrist Dysplasia

Drugs & Therapeutics for Brachydactyly Elbow Wrist Dysplasia

Search Clinical Trials , NIH Clinical Center for Brachydactyly Elbow Wrist Dysplasia

Genetic Tests for Brachydactyly Elbow Wrist Dysplasia

Anatomical Context for Brachydactyly Elbow Wrist Dysplasia

Publications for Brachydactyly Elbow Wrist Dysplasia

Articles related to Brachydactyly Elbow Wrist Dysplasia:

# Title Authors Year
1
Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family. ( 10970192 )
2000

Variations for Brachydactyly Elbow Wrist Dysplasia

Expression for Brachydactyly Elbow Wrist Dysplasia

Search GEO for disease gene expression data for Brachydactyly Elbow Wrist Dysplasia.

Pathways for Brachydactyly Elbow Wrist Dysplasia

GO Terms for Brachydactyly Elbow Wrist Dysplasia

Sources for Brachydactyly Elbow Wrist Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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