Visualize Submit Comment
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

OMIM:302960

Synonyms

Conradi-Hunermann Syndrome [EXACT]

Happle syndrome [EXACT]

Parent Relationships

is_a chondrodysplasia punctata

Add an item to the term tracker