X-linked chondrodysplasia punctata 1

Summary

DOID:0060292 - X-linked chondrodysplasia punctata 1

Disease Ontology 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.

Synonyms: chondrodystrophia calcificans congenita

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ebp

MIM:

MIM:302950 - chondrodysplasia punctata 1, x-linked recessive; cdpx1
MIM:302960 - chondrodysplasia punctata 2, x-linked dominant; cdpx2

MIM:302950 - chondrodysplasia punctata 1, x-linked recessive; cdpx1

MIM:302960 - chondrodysplasia punctata 2, x-linked dominant; cdpx2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): chondrodysplasia punctata (is_a), X-linked recessive disease (is_a)