Term Name:	X-linked chondrodysplasia punctata 2
Synonyms:	Conradi-Hunermann Syndrome, Happle syndrome
Definition:	A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11.
Ontology:	Human Disease [DOID:0080352]   ( DOID:0080352 )