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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 type IA
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Accession:DOID:0080054 term browser browse the term
Definition:An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine. (DO)
Synonyms:exact_synonym: ACG1A;   Achondrogenesis, Houston-Harris type;   Houston-Harris achondrogenesis;   achondrogenesis type 1A
 broad_synonym: TRIP11-related condition
 primary_id: MESH:C536015
 alt_id: OMIM:200600
 xref: GARD:459
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 OMIM:200600
ClinVar Annotator: match by term: Achondrogenesis, type IA
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        bone disease 3534
          spinal disease 1461
            achondrogenesis type IA 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Skin and Connective Tissue Diseases 5476
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              osteochondrodysplasia 446
                achondroplasia 11
                  achondrogenesis type IA 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.