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DO Term : rhizomelic chondrodysplasia punctata type 2 [DOID:0110852] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • Dihydroxyacetonephosphate Acyltransferase Deficiency,
  • GNPAT deficiency,
  • 222765,
  • ICD10CM:Q77.3,
  • DHAPAT deficiency,
  • Glyceronephosphate O-Acyltransferase Deficiency,
  • ORDO:309796,
  • RCDP2,
  • Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency,
  • Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency,
  • MESH:C537607,
  • OMIM:222765
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