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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 IB
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Accession:DOID:0080055 term browser browse the term
Definition:An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen. (DO)
Synonyms:exact_synonym: ACG1B;   Fraccaro achondrogenesis;   achondrogenesis type 1B;   achondrogenesis, Fraccaro type
 primary_id: MESH:C536016
 alt_id: OMIM:600972;   RDO:0001426
 xref: GARD:460
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 OMIM:600972
DNA:mutations:cds:
ClinVar Annotator: match by term: Achondrogenesis, type IB
ClinVar Annotator: match by term: Achondrogenesis Fraccaro type
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: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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      bone development disease 1335
        osteochondrodysplasia 445
          achondroplasia 11
            achondrogenesis type IB 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              osteochondrodysplasia 445
                achondroplasia 11
                  achondrogenesis type IB 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.