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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
For additional species annotation, visit the Alliance of Genome Resources.


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: Absence of tibia with polydactyly
ClinVar Annotator: match by term: Tibia, hypoplasia or aplasia of, with polydactyly
ClinVar
OMIM
PMID:7726219, PMID:9950363, PMID:12837695, PMID:18156157, PMID:19847792, PMID:24777739, PMID:24965254 NCBI chr 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
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 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        Musculoskeletal Abnormalities 1777
          Congenital Limb Deformities 510
            Ectromelia 12
              Absence of Tibia 2
                hypoplastic or aplastic tibia with polydactyly 2
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        Congenital Abnormalities 4785
          Musculoskeletal Abnormalities 1777
            Congenital Limb Deformities 510
              Ectromelia 12
                Absence of Tibia 2
                  hypoplastic or aplastic tibia with polydactyly 2
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.