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 49 69
Short Stature, Congenital Optic Atrophy, and Hypoplasia of the Cervical Vertebral Bodies and Distal Phalanges 49
Cleft Nare, Brachydactyly, Short Stature Dwarfism 49
Congenital Optic Atrophy and Brachytelephalangy 49
Kyphosis Brachyphalangy Optic Atrophy 49

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

UMLS 69 C2930899

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:

# Related Disease Score Top Affiliating Genes
1 tabatznik syndrome 10.3

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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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