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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, 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)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
The Jackson Laboratory