MCID: PRM335
MIFTS: 7

Primary Bone Dysplasia with Multiple Joint Dislocations

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Primary Bone Dysplasia with Multiple Joint Dislocations

MalaCards integrated aliases for Primary Bone Dysplasia with Multiple Joint Dislocations:

Name: Primary Bone Dysplasia with Multiple Joint Dislocations 58 6
Primary Skeletal Dysplasia with Multiple Joint Dislocations 58
Primary Osteodysplasia with Multiple Joint Dislocations 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA93441

Summaries for Primary Bone Dysplasia with Multiple Joint Dislocations

MalaCards based summary : Primary Bone Dysplasia with Multiple Joint Dislocations, is also known as primary skeletal dysplasia with multiple joint dislocations. An important gene associated with Primary Bone Dysplasia with Multiple Joint Dislocations is SLC35B2 (Solute Carrier Family 35 Member B2). Affiliated tissues include bone.

Related Diseases for Primary Bone Dysplasia with Multiple Joint Dislocations

Symptoms & Phenotypes for Primary Bone Dysplasia with Multiple Joint Dislocations

Drugs & Therapeutics for Primary Bone Dysplasia with Multiple Joint Dislocations

Search Clinical Trials , NIH Clinical Center for Primary Bone Dysplasia with Multiple Joint Dislocations

Genetic Tests for Primary Bone Dysplasia with Multiple Joint Dislocations

Anatomical Context for Primary Bone Dysplasia with Multiple Joint Dislocations

MalaCards organs/tissues related to Primary Bone Dysplasia with Multiple Joint Dislocations:

40
Bone

Publications for Primary Bone Dysplasia with Multiple Joint Dislocations

Variations for Primary Bone Dysplasia with Multiple Joint Dislocations

ClinVar genetic disease variations for Primary Bone Dysplasia with Multiple Joint Dislocations:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC35B2 NM_178148.4(SLC35B2):c.1218_1220del (p.Leu407del) Deletion Pathogenic 984534 rs760851221 6:44222522-44222524 6:44254785-44254787

Expression for Primary Bone Dysplasia with Multiple Joint Dislocations

Search GEO for disease gene expression data for Primary Bone Dysplasia with Multiple Joint Dislocations.

Pathways for Primary Bone Dysplasia with Multiple Joint Dislocations

GO Terms for Primary Bone Dysplasia with Multiple Joint Dislocations

Sources for Primary Bone Dysplasia with Multiple Joint Dislocations

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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