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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:Absence of Tibia
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Accession:DOID:9000751 term browser browse the term
Synonyms:exact_synonym: Bilateral absence of the tibia;   THM;   Tibial hemimelia
 primary_id: MESH:C535563;   RDO:0000758
 alt_id: OMIM:275220


show annotations for term's descendants           Sort by:
hypoplastic or aplastic tibia with polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Tibia, hypoplasia or aplasia of, with polydactyly
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7726219 PMID:9950363 PMID:12837695 PMID:18156157 PMID:19847792 More... NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:point mutations:enhancer:404G>A, 404G>C (human) RGD PMID:19847792 RGD:12801438 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      musculoskeletal system disease 8203
        Musculoskeletal Abnormalities 3206
          Congenital Limb Deformities 1015
            Ectromelia 15
              Absence of Tibia 2
                hypoplastic or aplastic tibia with polydactyly 2
Path 2
Term Annotations click to browse term
  disease 21108
    Developmental Disease 18429
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18284
        Congenital Abnormalities 7410
          Musculoskeletal Abnormalities 3206
            Congenital Limb Deformities 1015
              Ectromelia 15
                Absence of Tibia 2
                  hypoplastic or aplastic tibia with polydactyly 2
paths to the root