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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:Al Awadi Syndrome
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Accession:DOID:9000443 term browser browse the term
Synonyms:exact_synonym: AARRS;   Al Awadi Rass Rothschild syndrome;   Al-Awadi-Raas-Rothschild Syndrome;   LPHAS;   Limb-Pelvis Hypoplasia-Aplasia syndrome;   Schinzel phocomelia syndrome;   Ulna and fibula absence of with severe limb deficiency
 primary_id: MESH:C535612
 alt_id: OMIM:276820;   RDO:0000836
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Al Awadi Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by OMIM:276820
ClinVar Annotator: match by term: Ulna and fibula absence of with severe limb deficiency
OMIM
ClinVar
PMID:16826533, PMID:20949531, PMID:21271649, PMID:21344627 NCBI chr 4:122,994,425...123,040,609
Ensembl chr 4:122,994,425...123,040,609
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Al Awadi Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Urogenital Diseases 4155
        Female Urogenital Diseases and Pregnancy Complications 1915
          Female Urogenital Diseases 1612
            female reproductive system disease 1608
              amenorrhea 136
                Al Awadi Syndrome 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.