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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:atelosteogenesis
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Accession:DOID:0050648 term browser browse the term
Definition:An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns. (DO)
Synonyms:xref: OMIM:PS108720
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
atelosteogenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISS OMIM:108720 | OMIM:108721 | OMIM:256050 MouseDO NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO
ISS
ClinVar Annotator: match by term: Atelosteogenesis
OMIM:108720 | OMIM:108721 | OMIM:256050
ClinVar
MouseDO
NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
JBrowse link
Atelosteogenesis Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: Atelosteogenesis type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:108720
OMIM
ClinVar
CTD
PMID:14991055 PMID:24624349 PMID:25741868 PMID:28492532 NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO ClinVar Annotator: match by term: Atelosteogenesis type 1 ClinVar PMID:25741868 PMID:25899317 PMID:27426733 NCBI chr 5:47,183,142...47,244,424
Ensembl chr 5:47,186,558...47,244,416
Ensembl chr 9:47,186,558...47,244,416
JBrowse link
Atelosteogenesis Type 2 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:256050
ClinVar Annotator: match by synonym: De la chapelle dysplasia
ClinVar Annotator: match by term: Atelosteogenesis type 2
ClinVar Annotator: match by term: Neonatal osseous dysplasia 1
ClinVar Annotator: match by term: Atelosteogenesis type II
OMIM
ClinVar
PMID:4644462 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 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
JBrowse link
Atelosteogenesis Type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: Atelosteogenesis type III
ClinVar Annotator: match by term: Atelosteogenesis type 3
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:14991055 PMID:25741868 PMID:28492532 NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      bone development disease 1326
        osteochondrodysplasia 447
          atelosteogenesis 3
            Atelosteogenesis Type 1 2
            Atelosteogenesis Type 2 1
            Atelosteogenesis Type 3 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        connective tissue disease 3651
          bone disease 2997
            bone development disease 1326
              osteochondrodysplasia 447
                atelosteogenesis 3
                  Atelosteogenesis Type 1 2
                  Atelosteogenesis Type 2 1
                  Atelosteogenesis Type 3 1
paths to the root