MCID: KZL003
MIFTS: 5

Kozlowski Ouvrier Syndrome

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Kozlowski Ouvrier Syndrome

MalaCards integrated aliases for Kozlowski Ouvrier Syndrome:

Name: Kozlowski Ouvrier Syndrome 52 71
Agenesis of the Corpus Callosum with Mental Retardation and Osseous Lesions 52

Classifications:



External Ids:

UMLS 71 C2931512

Summaries for Kozlowski Ouvrier Syndrome

MalaCards based summary : Kozlowski Ouvrier Syndrome, also known as agenesis of the corpus callosum with mental retardation and osseous lesions, is related to corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia.

Related Diseases for Kozlowski Ouvrier Syndrome

Diseases related to Kozlowski Ouvrier Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.3

Symptoms & Phenotypes for Kozlowski Ouvrier Syndrome

Drugs & Therapeutics for Kozlowski Ouvrier Syndrome

Search Clinical Trials , NIH Clinical Center for Kozlowski Ouvrier Syndrome

Genetic Tests for Kozlowski Ouvrier Syndrome

Anatomical Context for Kozlowski Ouvrier Syndrome

Publications for Kozlowski Ouvrier Syndrome

Articles related to Kozlowski Ouvrier Syndrome:

# Title Authors PMID Year
1
Agenesis of the corpus callosum with mental retardation and osseous lesions. 61
8357037 1993

Variations for Kozlowski Ouvrier Syndrome

Expression for Kozlowski Ouvrier Syndrome

Search GEO for disease gene expression data for Kozlowski Ouvrier Syndrome.

Pathways for Kozlowski Ouvrier Syndrome

GO Terms for Kozlowski Ouvrier Syndrome

Sources for Kozlowski Ouvrier Syndrome

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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