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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
Xenbase Genes
:
arsl,
ebp
| MONDO:0010556 - X-linked chondrodysplasia punctata |
| 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)