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Ontology Browser

Term:
rhizomelic chondrodysplasia punctata type 3 (DOID:0110853)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
rhizomelic chondrodysplasia punctata type 1  
rhizomelic chondrodysplasia punctata type 2  
rhizomelic chondrodysplasia punctata type 3  
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. (DO)
rhizomelic chondrodysplasia punctata type 5  

Synonyms
Exact Synonyms: AGPS deficiency ;   RCDP3 ;   alkyldihydroxyacetonephosphate synthase deficiency ;   alkylglycerone-phosphate synthase deficiency
Primary IDs: MESH:C537608
Alternate IDs: OMIM:600121
Xrefs: ORDO:309803
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/22871920 "DO" "DO"

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