MCID: RGR003
MIFTS: 6

Regressive Spondylometaphyseal Dysplasia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Regressive Spondylometaphyseal Dysplasia

MalaCards integrated aliases for Regressive Spondylometaphyseal Dysplasia:

Name: Regressive Spondylometaphyseal Dysplasia 59

Characteristics:

Orphanet epidemiological data:

59
regressive spondylometaphyseal dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA448267
ICD10 via Orphanet 34 Q77.8

Summaries for Regressive Spondylometaphyseal Dysplasia

MalaCards based summary : Regressive Spondylometaphyseal Dysplasia An important gene associated with Regressive Spondylometaphyseal Dysplasia is LBR (Lamin B Receptor). Affiliated tissues include bone.

Related Diseases for Regressive Spondylometaphyseal Dysplasia

Symptoms & Phenotypes for Regressive Spondylometaphyseal Dysplasia

Drugs & Therapeutics for Regressive Spondylometaphyseal Dysplasia

Search Clinical Trials , NIH Clinical Center for Regressive Spondylometaphyseal Dysplasia

Genetic Tests for Regressive Spondylometaphyseal Dysplasia

Anatomical Context for Regressive Spondylometaphyseal Dysplasia

MalaCards organs/tissues related to Regressive Spondylometaphyseal Dysplasia:

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Bone

Publications for Regressive Spondylometaphyseal Dysplasia

Variations for Regressive Spondylometaphyseal Dysplasia

Expression for Regressive Spondylometaphyseal Dysplasia

Search GEO for disease gene expression data for Regressive Spondylometaphyseal Dysplasia.

Pathways for Regressive Spondylometaphyseal Dysplasia

GO Terms for Regressive Spondylometaphyseal Dysplasia

Sources for Regressive Spondylometaphyseal Dysplasia

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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