Term Name: | X-linked chondrodysplasia punctata 2 |
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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 ) |