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Summary Literature (0)
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, 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.

Synonyms: chondrodystrophia calcificans congenita,

Xenbase Genes : arsl, ebp

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010556 - X-linked chondrodysplasia punctata


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): chondrodysplasia punctata (is_a)