MCID: NNT055
MIFTS: 3

Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency

MalaCards integrated aliases for Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency:

Name: Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Orphanet 58 ORPHA557064

Summaries for Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency

MalaCards based summary : Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency An important gene associated with Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency is GLS (Glutaminase).

Related Diseases for Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency

Symptoms & Phenotypes for Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency

Drugs & Therapeutics for Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency

Search Clinical Trials , NIH Clinical Center for Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency

Genetic Tests for Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency

Anatomical Context for Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency

Publications for Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency

Variations for Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency

Expression for Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency

Search GEO for disease gene expression data for Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency.

Pathways for Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency

GO Terms for Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency

Sources for Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency

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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