MCID: SKL028
MIFTS: 4

Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa

Categories: Bone diseases

Aliases & Classifications for Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa

MalaCards integrated aliases for Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa:

Name: Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa 57

Classifications:



External Ids:

OMIM 57 609047

Summaries for Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa

MalaCards based summary : Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa

More information from OMIM: 609047

Related Diseases for Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa

Symptoms & Phenotypes for Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa

Clinical features from OMIM:

609047

Drugs & Therapeutics for Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa

Search Clinical Trials , NIH Clinical Center for Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa

Genetic Tests for Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa

Anatomical Context for Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa

Publications for Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa

Articles related to Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa:

# Title Authors PMID Year
1
A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa. 8
15372527 2004

Variations for Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa

Expression for Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa

Search GEO for disease gene expression data for Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa.

Pathways for Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa

GO Terms for Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa

Sources for Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....