About   Help   FAQ
Disease Ontology Browser
X-linked chondrodysplasia punctata 1 (DOID:0060292)
Alliance: disease page
Synonyms: chondrodystrophia calcificans congenita
Alt IDs: OMIM:302950, ICD10CM:Q77.3, MESH:C580533, ORDO:35173
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.

Disease References using Mouse Models (2)
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory