MCID: SKL031
MIFTS: 9

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 59
Neuro-Immuno-Skeletal Dysplasia Syndrome Due to Extl3 Deficiency 59
Extl3-Related Neuro-Immuno-Skeletal Dysplasia Syndrome 59

Classifications:



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Orphanet 59 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:

41
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 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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