MCID: ERL060
MIFTS: 5

Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia

MalaCards integrated aliases for Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia:

Name: Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA556985

Summaries for Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia

MalaCards based summary : Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia An important gene associated with Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia is CSF1R (Colony Stimulating Factor 1 Receptor). Affiliated tissues include bone.

Related Diseases for Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia

Symptoms & Phenotypes for Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia

Drugs & Therapeutics for Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia

Search Clinical Trials , NIH Clinical Center for Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia

Genetic Tests for Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia

Anatomical Context for Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia

MalaCards organs/tissues related to Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia:

40
Bone

Publications for Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia

Variations for Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia

Expression for Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia

Search GEO for disease gene expression data for Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia.

Pathways for Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia

GO Terms for Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia

Sources for Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia

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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