rhizomelic chondrodysplasia punctata type 2 Disease Ontology Browser

Disease Ontology Browser

rhizomelic chondrodysplasia punctata type 2 (DOID:0110852)
Alliance: disease page
Synonyms: Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency; DHAPAT deficiency; Dihydroxyacetonephosphate Acyltransferase Deficiency; Glyceronephosphate O-Acyltransferase Deficiency; GNPAT deficiency; Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency; RCDP2
Alt IDs: OMIM:222765, ICD10CM:Q77.3, MESH:C537607, ORDO:309796
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.

Disease References using Mouse Models (1)

Allelic Composition	Genetic Background	Reference	Phenotypes
Gnpattm1Just/Gnpattm1Just	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:84690	View

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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