MCID: RDL037
MIFTS: 12

Radial Ray Deficiency, X-Linked

Aliases & Classifications for Radial Ray Deficiency, X-Linked

MalaCards integrated aliases for Radial Ray Deficiency, X-Linked:

Name: Radial Ray Deficiency, X-Linked 57 73
Radial Ray Deficiency 57 13
Rrdx 57

External Ids:

OMIM 57 300378
MedGen 42 C1845717
UMLS 73 C1845717

Summaries for Radial Ray Deficiency, X-Linked

MalaCards based summary : Radial Ray Deficiency, X-Linked, also known as radial ray deficiency, is related to polydactyly and synostosis. An important gene associated with Radial Ray Deficiency, X-Linked is RRDX (Radial Ray Deficiency).

Description from OMIM: 300378

Related Diseases for Radial Ray Deficiency, X-Linked

Diseases related to Radial Ray Deficiency, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 polydactyly 9.8
2 synostosis 9.8

Symptoms & Phenotypes for Radial Ray Deficiency, X-Linked

Clinical features from OMIM:

300378

Drugs & Therapeutics for Radial Ray Deficiency, X-Linked

Search Clinical Trials , NIH Clinical Center for Radial Ray Deficiency, X-Linked

Genetic Tests for Radial Ray Deficiency, X-Linked

Anatomical Context for Radial Ray Deficiency, X-Linked

Publications for Radial Ray Deficiency, X-Linked

Articles related to Radial Ray Deficiency, X-Linked:

# Title Authors Year
1
Reconstruction of active elbow flexion in patients with radial ray deficiency: report of two cases. ( 25441570 )
2014
2
Associated malformations among infants with radial ray deficiency. ( 24032294 )
2013
3
The ubiquitin/SUMO pathway and radial ray deficiency syndromes. ( 22395051 )
2013
4
A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency. ( 22903933 )
2012
5
X-linked recessive inheritance of radial ray deficiencies in a family with four affected males. ( 11571552 )
2001
6
Unilateral longitudinal radial ray deficiency of the hand and metacarpal 4-5 synostosis. ( 10631924 )
1999
7
Radial ray deficiency and ulnar ray deficiency in two sibs. ( 1642817 )
1992
8
Experimental study of radial ray deficiency. ( 2269841 )
1990
9
Radial ray deficiency. ( 3429657 )
1987

Variations for Radial Ray Deficiency, X-Linked

Expression for Radial Ray Deficiency, X-Linked

Search GEO for disease gene expression data for Radial Ray Deficiency, X-Linked.

Pathways for Radial Ray Deficiency, X-Linked

GO Terms for Radial Ray Deficiency, X-Linked

Sources for Radial Ray Deficiency, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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