| Disease Browser
|
Parent Node:
 Brachydactyly (D059327) | Parent Node:
Growth Disorders (D006130) | Parent Node:
Optic Atrophies, Hereditary (D015418) | ..Starting node
.. Berk-Tabatznik syndrome (C535432)
|
Child Nodes:
|
Sister Nodes: | ..Berk-Tabatznik syndrome (C535432)
| ..Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
| ..Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy (C535642)
| ..Hagemoser Weinstein Bresnick syndrome (C537626)
| ..Konigsmark Knox Hussels syndrome (C537214)
| ..Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
| ..Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult (C563530)
| ..Optic atrophy 1 and deafness (C537124)
| ..Optic Atrophy 4 (C565343)
| ..Optic atrophy 5 (C537126)
| ..Optic atrophy 6 (C537127)
| ..Optic Atrophy 7 (C567833)
| ..Optic atrophy and cataract, autosomal dominant (C537128)
| ..Optic atrophy polyneuropathy deafness (C537129)
| ..Optic Atrophy Spastic Paraplegia Syndrome (C564084)
| ..Optic Atrophy with Demyelinating Disease of CNS (C563496)
| ..Optic Atrophy with Negative Electroretinograms (C563494)
| ..Optic Atrophy, Autosomal Dominant (D029241)
| ..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
| ..Optic Atrophy, Hereditary, Leber (D029242)  1
| ..Senior Loken Syndrome (C537580)
| ..Senior-Loken Syndrome 3 (C564637)
| ..Senior-Loken Syndrome 5 (C563763)
| ..Senior-Loken Syndrome 6 (C565708)
| ..Spastic Paraplegia, Optic Atrophy, And Dementia (C566679)
| ..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
| ..Wolfram Syndrome (D014929) 1
| ..Wolfram Syndrome, Mitochondrial Form (C564012)
|
Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
|
|
|
| Term ID: | 1222 |
| Name: | Berk-Tabatznik syndrome |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D006130|MESH:D015418|MESH:D059327 |
| TreeNumbers: | C05.660.585.262/C535432 |C10.292.700.225.500/C535432 |C10.574.500.662/C535432 |C11.270.564/C535432 |C11.640.451.451/C535432 |C16.131.621.585.262/C535432 |C16.320.290.564/C535432 |C16.320.400.630/C535432 |C23.550.393/C535432 |
| Synonyms: | Berk Tabatznik syndrome |Cleft nare, brachydactyly, short stature/dwarfism |Congenital optic atrophy and brachytelephalangy |Kyphosis brachyphalangy optic atrophy |
| Slim Mappings: | Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (process) |
| Reference: |
MedGen: C535432
MeSH: C535432
OMIM:
Genes: | | Phenotypes | | | Disease Causing ClinVar Variants | |
|
