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Ontology Browser

Term:
rhizomelic chondrodysplasia punctata type 2 (DOID:0110852)
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  
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. (DO)
rhizomelic chondrodysplasia punctata type 3  
rhizomelic chondrodysplasia punctata type 5  

Synonyms
Exact Synonyms: Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency ;   Chondrodysplasia punctata, rhizomelic, due to DHAPAT deficiency ;   DHAPAT deficiency ;   Dihydroxyacetonephosphate acyltransferase deficiency ;   GNPAT deficiency ;   Glyceronephosphate O-Acyltransferase Deficiency ;   Glyceronephosphate acyltransferase deficiency ;   Human dihydroxyacetonephosphate acyltransferase deficiency ;   Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency ;   RCDP2
Primary IDs: MESH:C537607 ;   RDO:0003477
Alternate IDs: OMIM:222765
Xrefs: ORDO:309796
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/1405476 "DO"

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