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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, has_material_basis_in X-linked recessive inheritance, has_material_basis_in deficiency of arylsulfatase E. and is associated with associated with vitamin K-related teratogenicity.

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)
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory