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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 LMBR1 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: OMIM:188740
 alt_id: MESH:C535564;   MESH:C566046
 xref: GARD:8309;   ORDO:3332;   ORDO:988
For additional species annotation, visit the Alliance of Genome Resources.


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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: 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
    syndrome 7003
      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.