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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:hypoplastic or aplastic tibia with polydactyly
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Accession:DOID:0111564 term browser browse the term
Definition:A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3. (DO)
Synonyms:exact_synonym: THYP;   WMS;   Werner mesomelic syndrome;   absence of tibia with polydactyly;   absent tibia-polydactyly syndrome;   hypoplasia of tibia with polydactyly;   hypoplasia or aplasia of tibia with polydactyly;   hypoplastic tibiae-postaxial polydactyly syndrome;   polydactyly with absent tibia;   tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia;   tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome;   tibial hypoplasia or aplasia with polydactyly
 primary_id: MIM:188740
 alt_id: MESH:C535564;   MESH:C566046
 xref: GARD:8309;   ORDO:3332;   ORDO:988


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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 ClinVar 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 19051
    syndrome 11180
      hypoplastic or aplastic tibia with polydactyly 2
Path 2
Term Annotations click to browse term
  disease 19051
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        Congenital Abnormalities 7760
          Musculoskeletal Abnormalities 3419
            Congenital Limb Deformities 1060
              Ectromelia 15
                Absence of Tibia 2
                  hypoplastic or aplastic tibia with polydactyly 2
paths to the root