OBO ID: DOID:0110853
Term Name: rhizomelic chondrodysplasia punctata type 3 Search Ontology:
Synonyms:
  • Agps Deficiency
  • Alkyldihydroxyacetonephosphate Synthase Deficiency
  • Alkylglycerone-Phosphate Synthase Deficiency
  • Rcdp3
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. https://www.ncbi.nlm.nih.gov/pubmed/22871920
References:
Ontology: Human Disease   ( DOID:0110853 )
OTHER rhizomelic chondrodysplasia punctata type 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AGPS Rhizomelic chondrodysplasia punctata, type 3 600121
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None