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Disease Ontology Browser
rhizomelic chondrodysplasia punctata type 3 (DOID:0110853)
Alliance: disease page
Synonyms: AGPS deficiency; Alkyldihydroxyacetonephosphate Synthase Deficiency; Alkylglycerone-Phosphate Synthase Deficiency; RCDP3
Alt IDs: OMIM:600121, ICD10CM:Q77.3, MESH:C537608, ORDO:309803
Definition: A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2.

Disease References using Mouse Models (1)
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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12/10/2024
MGI 6.24 		The Jackson Laboratory