rhizomelic chondrodysplasia punctata type 2 - Ontology Browser

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Ontology Browser

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 + is-a

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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