MCID: MCR283
MIFTS: 6

Microcephaly and Chorioretinopathy 2

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microcephaly and Chorioretinopathy 2

MalaCards integrated aliases for Microcephaly and Chorioretinopathy 2:

Name: Microcephaly and Chorioretinopathy 2 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0080106

Summaries for Microcephaly and Chorioretinopathy 2

Disease Ontology : 12 A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has material basis in homozygous mutation in the PLK4 gene.

MalaCards based summary : Microcephaly and Chorioretinopathy 2 is related to microcephaly and chorioretinopathy, autosomal recessive, 2. Affiliated tissues include eye.

Related Diseases for Microcephaly and Chorioretinopathy 2

Symptoms & Phenotypes for Microcephaly and Chorioretinopathy 2

Drugs & Therapeutics for Microcephaly and Chorioretinopathy 2

Search Clinical Trials , NIH Clinical Center for Microcephaly and Chorioretinopathy 2

Genetic Tests for Microcephaly and Chorioretinopathy 2

Anatomical Context for Microcephaly and Chorioretinopathy 2

MalaCards organs/tissues related to Microcephaly and Chorioretinopathy 2:

40
Eye

Publications for Microcephaly and Chorioretinopathy 2

Variations for Microcephaly and Chorioretinopathy 2

Expression for Microcephaly and Chorioretinopathy 2

Search GEO for disease gene expression data for Microcephaly and Chorioretinopathy 2.

Pathways for Microcephaly and Chorioretinopathy 2

GO Terms for Microcephaly and Chorioretinopathy 2

Sources for Microcephaly and Chorioretinopathy 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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