MCID: SYB002
MIFTS: 11

Say-Barber-Biesecker Variant of Ohdo Syndrome malady

Categories: Genetic diseases (common), Neuronal diseases, Mental diseases

Aliases & Classifications for Say-Barber-Biesecker Variant of Ohdo Syndrome

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Aliases & Descriptions for Say-Barber-Biesecker Variant of Ohdo Syndrome:

Name: Say-Barber-Biesecker Variant of Ohdo Syndrome 22
Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome 22 23
Sbbyss 22 23
Blepharophimosis and Mental Retardation Syndrome, Say-Barber/biesecker/young-Simpson Type 23
Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/biesecker/young-Simpson Type 23
Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant 23
Say-Barber-Biesecker-Young-Simpson Syndrome 23
 
Ohdo Syndrome, Say-Barber-Biesecker Variant 23
Sbbys Variant of Ohdo Syndrome 23
Ohdo Syndrome, Sbbys Variant 23
Young Simpson Syndrome 65
Young-Simpson Syndrome 23
Ohdo/sbbys Syndrome 22
Bmrs Sbbys 23

Classifications:



Summaries for Say-Barber-Biesecker Variant of Ohdo Syndrome

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Genetics Home Reference:23 The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body.

MalaCards based summary: Say-Barber-Biesecker Variant of Ohdo Syndrome, also known as say-barber-biesecker-young-simpson variant of ohdo syndrome, is related to sbbyss syndrome and genitopatellar syndrome. An important gene associated with Say-Barber-Biesecker Variant of Ohdo Syndrome is KAT6B (Lysine Acetyltransferase 6B).

Related Diseases for Say-Barber-Biesecker Variant of Ohdo Syndrome

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Diseases related to Say-Barber-Biesecker Variant of Ohdo Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1sbbyss syndrome12.0
2genitopatellar syndrome10.7

Symptoms for Say-Barber-Biesecker Variant of Ohdo Syndrome

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Drugs & Therapeutics for Say-Barber-Biesecker Variant of Ohdo Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Say-Barber-Biesecker Variant of Ohdo Syndrome

Genetic Tests for Say-Barber-Biesecker Variant of Ohdo Syndrome

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Genetic tests related to Say-Barber-Biesecker Variant of Ohdo Syndrome:

id Genetic test Affiliating Genes
1 Say-Barber-Biesecker Variant of Ohdo Syndrome22

Anatomical Context for Say-Barber-Biesecker Variant of Ohdo Syndrome

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Animal Models for Say-Barber-Biesecker Variant of Ohdo Syndrome or affiliated genes

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Publications for Say-Barber-Biesecker Variant of Ohdo Syndrome

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Articles related to Say-Barber-Biesecker Variant of Ohdo Syndrome:

idTitleAuthorsYear
1
Observations on sheep with polyarthritis produced by an agent of the psittacosis-lymphogranuloma venereum-trachoma group. (6066932)
1967

Variations for Say-Barber-Biesecker Variant of Ohdo Syndrome

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Expression for genes affiliated with Say-Barber-Biesecker Variant of Ohdo Syndrome

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Search GEO for disease gene expression data for Say-Barber-Biesecker Variant of Ohdo Syndrome.

Pathways for genes affiliated with Say-Barber-Biesecker Variant of Ohdo Syndrome

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GO Terms for genes affiliated with Say-Barber-Biesecker Variant of Ohdo Syndrome

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Sources for Say-Barber-Biesecker Variant of Ohdo Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet