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Metadata
ID	DOID:0080352
Name	X-linked chondrodysplasia punctata 2
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. https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-2
Xrefs	MIM:302960
Synonyms	Conradi-Hunermann Syndrome [EXACT] Happle syndrome [EXACT]
Parent Relationships	is_a chondrodysplasia punctata is_a X-linked dominant disease