Berk-Tabatznik syndrome

Preferred Label : Berk-Tabatznik syndrome;

MeSH note : Short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges;

CISMeF synonym : cleft nare, brachydactyly, short stature/dwarfism;

MeSH synonym : kyphosis brachyphalangy optic atrophy; congenital optic atrophy and brachytelephalangy; berk tabatznik syndrome; Cleft nare, brachydactyly, short stature-dwarfism;

Details

Origin ID

C535432;

UMLS CUI

C2930899;

False automatic mappings
- Heart-hand syndrome type 2 [ORDO Disease]
MeSH term(s) associated for indexing
- brachydactyly [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- optic atrophies, hereditary [MeSH Descriptor]
- spine [MeSH Descriptor]
Record concept(s)
- Berk-Tabatznik syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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