X-linked chondrodysplasia punctata 2 Disease Ontology Browser

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Disease Ontology Browser

X-linked chondrodysplasia punctata 2 (DOID:0080352)
Alliance: disease page
Synonyms: Conradi-Hunermann Syndrome; Happle syndrome
Alt IDs: OMIM:302960
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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