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Summary Literature (0)
DOID:0110852 - rhizomelic chondrodysplasia punctata type 2

Disease Ontology Definition:A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2.

Synonyms: Dhapat Deficiency, Gnpat Deficiency, Rcdp2, DHAPAT deficiency, GNPAT deficiency, RCDP2, Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency, Dihydroxyacetonephosphate Acyltransferase Deficiency, Glyceronephosphate O-Acyltransferase Deficiency, Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency

Xenbase Genes : gnpat

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009112 - rhizomelic chondrodysplasia punctata type 2

MIM:
MIM:222765 - RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2

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

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