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Human Disease
X-linked chondrodysplasia punctata 1
- Term ID
- DOID:0060292
- Synonyms
-
- chondrodystrophia calcificans congenita
- Definition
- A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22. https://en.wikipedia.org/wiki/X-linked_recessive_chondrodysplasia_punctata
- References
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- ICD10CM:Q77.3
- MESH:C580533
- MIM:302950
- ORDO:35173
- Ontology
- Human Disease ( DOID:0060292 )
- is a type of
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Zebrafish Models