Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 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 17256
    disease of anatomical entity 16600
      musculoskeletal system disease 6447
        Musculoskeletal Abnormalities 2240
          Congenital Limb Deformities 458
            Ectromelia 13
              Absence of Tibia 2
                hypoplastic or aplastic tibia with polydactyly 2
Path 2
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        Congenital Abnormalities 5599
          Musculoskeletal Abnormalities 2240
            Congenital Limb Deformities 458
              Ectromelia 13
                Absence of Tibia 2
                  hypoplastic or aplastic tibia with polydactyly 2
paths to the root