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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Desbuquois Dysplasia 1  
Desbuquois Dysplasia 2  
Desbuquois dysplasia-2 (DBQD2) is caused by homozygous or compound heterozygous mutation in the XYLT1 gene on chromosome 16p12.

Synonyms
Exact Synonyms: Baratela-Scott syndrome ;   DBQD2
Primary IDs: MIM:615777

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