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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:achondrogenesis
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Accession:DOID:0080043 term browser browse the term
Definition:An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. (DO)
Synonyms:exact_synonym: Achondrogenesis Syndrome
 primary_id: MESH:C579878
 alt_id: RDO:0015859
 xref: GARD:2882;   OMIM:PS200600
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
achondrogenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Achondrogenesis ClinVar NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
JBrowse link
G Trip11 thyroid hormone receptor interactor 11 ISO ClinVar Annotator: match by term: Achondrogenesis ClinVar NCBI chr 6:125,741,520...125,812,926
Ensembl chr 6:125,742,796...125,812,517
JBrowse link
achondrogenesis type IA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip11 thyroid hormone receptor interactor 11 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar Annotator: match by OMIM:200600
OMIM
ClinVar
PMID:200899 PMID:2008997 PMID:20089971 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29872333 PMID:30728324 NCBI chr 6:125,741,520...125,812,926
Ensembl chr 6:125,742,796...125,812,517
JBrowse link
achondrogenesis type IB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Achondrogenesis Fraccaro type
ClinVar Annotator: match by term: Achondrogenesis, type IB
DNA:mutations:cds:
ClinVar Annotator: match by OMIM:600972
OMIM
ClinVar
PMID:7923357 PMID:8528239 PMID:8571951 PMID:8702127 PMID:8723100 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11558903 PMID:11565064 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:17393463 PMID:18708426 PMID:18925670 PMID:20219950 PMID:20301524 PMID:20525296 PMID:20981092 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21228398 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831, PMID:8528239 RGD:11068488 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
JBrowse link
achondrogenesis type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by OMIM:200610
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Achondrogenesis, type II
ClinVar Annotator: match by term: Achondrogenesis type II
OMIM
ClinVar
CTD
PMID:7741714 PMID:7752132 PMID:7757081 PMID:7829510 PMID:8325895 PMID:9101290 PMID:10982970 PMID:12429249 PMID:12939326 PMID:15054848 PMID:17994563 PMID:23592912 PMID:25741868 PMID:28492532 PMID:28559085 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      bone development disease 1343
        osteochondrodysplasia 446
          achondrogenesis 3
            achondrogenesis type IA 1
            achondrogenesis type IB 1
            achondrogenesis type II 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      Skin and Connective Tissue Diseases 5478
        connective tissue disease 4105
          bone disease 3536
            bone development disease 1343
              osteochondrodysplasia 446
                achondrogenesis 3
                  achondrogenesis type IA 1
                  achondrogenesis type IB 1
                  achondrogenesis type II 1
paths to the root