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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:rhizomelic chondrodysplasia punctata type 2
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Accession:DOID:0110852 term browser browse the term
Definition: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)
Synonyms:exact_synonym: Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency;   Chondrodysplasia punctata, rhizomelic, due to DHAPAT deficiency;   DHAPAT deficiency;   Dihydroxyacetonephosphate acyltransferase deficiency;   GNPAT deficiency;   GNPAT-RELATED CONDITION;   Glyceronephosphate O-Acyltransferase Deficiency;   Glyceronephosphate acyltransferase deficiency;   Human dihydroxyacetonephosphate acyltransferase deficiency;   Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency;   RCDP2
 primary_id: MESH:C537607;   RDO:0003477
 alt_id: OMIM:222765
 xref: ORDO:309796


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rhizomelic chondrodysplasia punctata type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNPAT glyceronephosphate O-acyltransferase ISO ClinVar Annotator: match by term: GNPAT-related condition | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 2 OMIM
ClinVar		 PMID:1405476 PMID:7530787 PMID:9536089 PMID:9536098 PMID:9843043 More... NCBI chr 1:206,794,245...206,830,840
Ensembl chr 1:211,819,259...211,855,885 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10168
      chondrodysplasia punctata 10
        rhizomelic chondrodysplasia punctata 5
          rhizomelic chondrodysplasia punctata type 2 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      musculoskeletal system disease 7805
        connective tissue disease 5332
          bone disease 3850
            bone development disease 2300
              osteochondrodysplasia 870
                chondrodysplasia punctata 10
                  rhizomelic chondrodysplasia punctata 5
                    rhizomelic chondrodysplasia punctata type 2 1
paths to the root