MCID: SKL031
MIFTS: 8

Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome

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

Aliases & Classifications for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

MalaCards integrated aliases for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome:

Name: Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome 60
Neuro-Immuno-Skeletal Dysplasia Syndrome Due to Extl3 Deficiency 60
Extl3-Related Neuro-Immuno-Skeletal Dysplasia Syndrome 60

Classifications:



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Orphanet 60 ORPHA508533

Summaries for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

MalaCards based summary : Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome, is also known as neuro-immuno-skeletal dysplasia syndrome due to extl3 deficiency. An important gene associated with Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome is EXTL3 (Exostosin Like Glycosyltransferase 3). Affiliated tissues include t cells and bone.

Related Diseases for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

Symptoms & Phenotypes for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

Drugs & Therapeutics for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

Search Clinical Trials , NIH Clinical Center for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome

Genetic Tests for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

Anatomical Context for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

MalaCards organs/tissues related to Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome:

42
T Cells, Bone

Publications for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

Variations for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

Expression for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

Search GEO for disease gene expression data for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome.

Pathways for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

GO Terms for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

Sources for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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