MCID: MCR282
MIFTS: 6

Microcephaly and Chorioretinopathy 1

Categories: Genetic diseases, Neuronal diseases, Immune diseases, Mental diseases, Rare diseases, Eye diseases

Aliases & Classifications for Microcephaly and Chorioretinopathy 1

MalaCards integrated aliases for Microcephaly and Chorioretinopathy 1:

Name: Microcephaly and Chorioretinopathy 1 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0080105

Summaries for Microcephaly and Chorioretinopathy 1

Disease Ontology : 12 A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has material basis in homozygous or compound heterozygous mutation in the TUBGCP6 gene.

MalaCards based summary : Microcephaly and Chorioretinopathy 1

Related Diseases for Microcephaly and Chorioretinopathy 1

Symptoms & Phenotypes for Microcephaly and Chorioretinopathy 1

Drugs & Therapeutics for Microcephaly and Chorioretinopathy 1

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Anatomical Context for Microcephaly and Chorioretinopathy 1

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Variations for Microcephaly and Chorioretinopathy 1

Expression for Microcephaly and Chorioretinopathy 1

Search GEO for disease gene expression data for Microcephaly and Chorioretinopathy 1.

Pathways for Microcephaly and Chorioretinopathy 1

GO Terms for Microcephaly and Chorioretinopathy 1

Sources for Microcephaly and Chorioretinopathy 1

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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