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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 3
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Accession:DOID:0110853 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 AGPS gene on chromosome 2q31.2. (DO)
Synonyms:exact_synonym: AGPS deficiency;   Alkyldihydroxyacetonephosphate synthase deficiency;   Alkylglycerone-Phosphate Synthase Deficiency;   RCDP3
 primary_id: MESH:C537608;   RDO:0003478
 alt_id: OMIM:600121
 xref: ORDO:309803
For additional species annotation, visit the Alliance of Genome Resources.


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rhizomelic chondrodysplasia punctata type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agps alkylglycerone phosphate synthase ISO ClinVar Annotator: match by OMIM:600121
ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 3
OMIM
ClinVar
PMID:7807941 PMID:9553082 PMID:11152660 PMID:18414213 PMID:21990100 PMID:25741868 PMID:28492532 NCBI chr 3:62,648,352...62,749,250
Ensembl chr 3:62,648,447...62,749,153
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      chondrodysplasia punctata 7
        rhizomelic chondrodysplasia punctata 4
          rhizomelic chondrodysplasia punctata type 3 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      musculoskeletal system disease 5736
        connective tissue disease 4135
          bone disease 3505
            bone development disease 1305
              osteochondrodysplasia 442
                chondrodysplasia punctata 7
                  rhizomelic chondrodysplasia punctata 4
                    rhizomelic chondrodysplasia punctata type 3 1
paths to the root