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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:Amelia, Autosomal Recessive
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Accession:DOID:9005155 term browser browse the term
Synonyms:exact_synonym: PAPPAS;   posterior amelia with pelvic and pulmonary hypoplasia syndrome
 broad_synonym: TBX4-RELATED CONDITION
 primary_id: MESH:C563338
 alt_id: OMIM:601360


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Amelia, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx4 T-box 4 ISO ClinVar Annotator: match by term: Autosomal recessive amelia OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31761294 PMID:31965066 NCBI chr11:85,777,193...85,806,923
Ensembl chr11:85,777,248...85,806,923 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16107
    disease of anatomical entity 15663
      musculoskeletal system disease 7968
        Musculoskeletal Abnormalities 3351
          Congenital Limb Deformities 1028
            Ectromelia 16
              Amelia, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 16107
    Developmental Disease 13806
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12830
        Congenital Abnormalities 7611
          Musculoskeletal Abnormalities 3351
            Congenital Limb Deformities 1028
              Ectromelia 16
                Amelia, Autosomal Recessive 1
paths to the root