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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:ischiocoxopodopatellar syndrome
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Accession:DOID:0111382 term browser browse the term
Definition:A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in TBX4 on chromosome 17q23.2. (DO)
Synonyms:exact_synonym: ICPPS;   SPS;   Scott-Taor syndrome;   congenital coxa vara, patella aplasia and tarsal synostosis;   coxo-podo-patellar syndrome;   coxopodipatellar syndrome;   coxopodopatellar syndrome;   ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension;   ischiopatellar dysplasia;   patella aplasia, coxa vara, and tarsal synostosis;   patella aplasia, coxa vara, tarsal synostosis;   small patella syndrome
 primary_id: MESH:C535540;   MESH:C536307
 alt_id: OMIM:147891
 xref: GARD:3030;   ORDO:1509
For additional species annotation, visit the Alliance of Genome Resources.



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ischiocoxopodopatellar syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by OMIM:147891
ClinVar Annotator: match by term: Ischiopatellar dysplasia
ClinVar Annotator: match by term: Coxopodopatellar syndrome
OMIM
ClinVar
PMID:11303519 PMID:15106123 PMID:23592887 PMID:24033266 PMID:25741868 More... NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        Musculoskeletal Abnormalities 2243
          synostosis 242
            ischiocoxopodopatellar syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Skin and Connective Tissue Diseases 5863
        connective tissue disease 4447
          bone disease 3124
            Bone Malalignment 3
              Bone Anteversion 3
                Coxa Vara 3
                  ischiocoxopodopatellar syndrome 1
paths to the root