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 56

Classifications:



External Ids:

OMIM 56 609047

Summaries for Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa

MalaCards based summary : Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa Affiliated tissues include bone.

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

MalaCards organs/tissues related to Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa:

40
Bone

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. 56
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 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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