MCID: ISL034
MIFTS: 6

Isolated Megalencephaly

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Megalencephaly

MalaCards integrated aliases for Isolated Megalencephaly:

Name: Isolated Megalencephaly 59
Isolated Macrencephaly 59

Classifications:



External Ids:

Orphanet 59 ORPHA268920
UMLS via Orphanet 74 C0221355
ICD10 via Orphanet 34 Q04.5

Summaries for Isolated Megalencephaly

MalaCards based summary : Isolated Megalencephaly, is also known as isolated macrencephaly. An important gene associated with Isolated Megalencephaly is TBC1D7 (TBC1 Domain Family Member 7).

Related Diseases for Isolated Megalencephaly

Symptoms & Phenotypes for Isolated Megalencephaly

Drugs & Therapeutics for Isolated Megalencephaly

Search Clinical Trials , NIH Clinical Center for Isolated Megalencephaly

Genetic Tests for Isolated Megalencephaly

Anatomical Context for Isolated Megalencephaly

Publications for Isolated Megalencephaly

Variations for Isolated Megalencephaly

Expression for Isolated Megalencephaly

Search GEO for disease gene expression data for Isolated Megalencephaly.

Pathways for Isolated Megalencephaly

GO Terms for Isolated Megalencephaly

Sources for Isolated Megalencephaly

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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