MCID: OHD001
MIFTS: 8

Ohdo Syndrome, Maat-Kievit-Brunner Type

Categories: Neuronal diseases, Mental diseases

Aliases & Classifications for Ohdo Syndrome, Maat-Kievit-Brunner Type

MalaCards integrated aliases for Ohdo Syndrome, Maat-Kievit-Brunner Type:

Name: Ohdo Syndrome, Maat-Kievit-Brunner Type 25 73
Blepharophimosis-Mental Retardation Syndrome, Maat-Kievit-Brunner Type 25
Ohdo Syndrome, Mkb Type 25
X-Linked Ohdo Syndrome 25
Bmrs, Mkb Type 25

Classifications:



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UMLS 73 C3698541

Summaries for Ohdo Syndrome, Maat-Kievit-Brunner Type

Genetics Home Reference : 25 The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.

MalaCards based summary : Ohdo Syndrome, Maat-Kievit-Brunner Type, also known as blepharophimosis-mental retardation syndrome, maat-kievit-brunner type, is related to ohdo syndrome, x-linked and ohdo syndrome.

Related Diseases for Ohdo Syndrome, Maat-Kievit-Brunner Type

Diseases related to Ohdo Syndrome, Maat-Kievit-Brunner Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ohdo syndrome, x-linked 12.1
2 ohdo syndrome 10.5

Symptoms & Phenotypes for Ohdo Syndrome, Maat-Kievit-Brunner Type

Drugs & Therapeutics for Ohdo Syndrome, Maat-Kievit-Brunner Type

Search Clinical Trials , NIH Clinical Center for Ohdo Syndrome, Maat-Kievit-Brunner Type

Genetic Tests for Ohdo Syndrome, Maat-Kievit-Brunner Type

Anatomical Context for Ohdo Syndrome, Maat-Kievit-Brunner Type

Publications for Ohdo Syndrome, Maat-Kievit-Brunner Type

Articles related to Ohdo Syndrome, Maat-Kievit-Brunner Type:

# Title Authors Year
1
Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation. ( 28794916 )
2017

Variations for Ohdo Syndrome, Maat-Kievit-Brunner Type

Expression for Ohdo Syndrome, Maat-Kievit-Brunner Type

Search GEO for disease gene expression data for Ohdo Syndrome, Maat-Kievit-Brunner Type.

Pathways for Ohdo Syndrome, Maat-Kievit-Brunner Type

GO Terms for Ohdo Syndrome, Maat-Kievit-Brunner Type

Sources for Ohdo Syndrome, Maat-Kievit-Brunner Type

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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