Term info
database cross reference
- MESH:C535432 (MONDO:equivalentTo)
- GARD:0005109 (MONDO:equivalentTo)
- UMLS:C2930899 (MONDO:equivalentTo)
Subsets
gard_rare
exactMatch
http://linkedlifedata.com/resource/umls/id/C2930899, http://identifiers.org/mesh/C535432
has related synonym
Berk Tabatznik syndrome, cleft nare, brachydactyly, short stature-dwarfism, short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges, kyphosis brachyphalangy optic atrophy, congenital optic atrophy and brachytelephalangy, cleft nare, brachydactyly, short stature dwarfism
id
MONDO:0021994
seeAlso
https://rarediseases.info.nih.gov/diseases/5109/berk-tabatznik-syndrome