MCID: BRK005
MIFTS: 7

Berk-Tabatznik Syndrome

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Berk-Tabatznik Syndrome

MalaCards integrated aliases for Berk-Tabatznik Syndrome:

Name: Berk-Tabatznik Syndrome 50 69
Short Stature, Congenital Optic Atrophy, and Hypoplasia of the Cervical Vertebral Bodies and Distal Phalanges 50
Cleft Nare, Brachydactyly, Short Stature Dwarfism 50
Congenital Optic Atrophy and Brachytelephalangy 50
Kyphosis Brachyphalangy Optic Atrophy 50

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


Summaries for Berk-Tabatznik Syndrome

MalaCards based summary : Berk-Tabatznik Syndrome, also known as short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges, is related to tabatznik syndrome.

Related Diseases for Berk-Tabatznik Syndrome

Diseases related to Berk-Tabatznik Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 tabatznik syndrome 10.2

Symptoms & Phenotypes for Berk-Tabatznik Syndrome

Drugs & Therapeutics for Berk-Tabatznik Syndrome

Search Clinical Trials , NIH Clinical Center for Berk-Tabatznik Syndrome

Genetic Tests for Berk-Tabatznik Syndrome

Anatomical Context for Berk-Tabatznik Syndrome

Publications for Berk-Tabatznik Syndrome

Articles related to Berk-Tabatznik Syndrome:

id Title Authors Year
1
Congenital optic atrophy and brachytelephalangy: the Berk-Tabatznik syndrome. ( 3128111 )
1988

Variations for Berk-Tabatznik Syndrome

Expression for Berk-Tabatznik Syndrome

Search GEO for disease gene expression data for Berk-Tabatznik Syndrome.

Pathways for Berk-Tabatznik Syndrome

GO Terms for Berk-Tabatznik Syndrome

Sources for Berk-Tabatznik Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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