Ontology Browser

blepharocheilodontic syndrome 2 (DOID:0080346)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
blepharocheilodontic syndrome 1  
blepharocheilodontic syndrome 2  
A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12. (DO)

Exact Synonyms: BCDS2
Primary IDs: OMIM:617681
Alternate IDs: DOID:9005298 ;   RDO:9005144
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/28301459

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.