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multiple epiphyseal dysplasia, Al-Gazali type

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism.
Uniprot Description An autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
Mondo Term and Equivalent IDs
MONDO:0011778:  multiple epiphyseal dysplasia, Al-Gazali type
MESH:C564621: 
Orphanet:166024: 
SCTID:719688002: