Search Ontology:
Human Disease
X-linked chondrodysplasia punctata 2
- Term ID
- DOID:0080352
- Synonyms
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- 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. https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-2
- References
- Ontology
- Human Disease ( DOID:0080352 )
- is a type of
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- has subtype
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Other Pages
Genes Involved
Zebrafish Models