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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:hand-foot-genital syndrome
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Accession:DOID:0060739 term browser browse the term
Definition:A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15. (DO)
Synonyms:exact_synonym: HFG;   HFG syndrome;   HFGS;   HFU;   HFU syndrome;   hand-foot-uterus syndrome
 primary_id: MESH:C535627
 alt_id: OMIM:140000
 xref: GARD:2594;   ICD10CM:Q51.2;   ORDO:2438

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hand-foot-genital syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa13 homeobox A13 ISO ClinVar Annotator: match by term: HFG syndrome | ClinVar Annotator: match by term: Hand-foot-genital syndrome OMIM
ClinVar		 PMID:1442892 PMID:2774004 PMID:5450271 PMID:8673126 PMID:9020844 More... NCBI chrNW_004936478:3,824,715...3,827,277
Ensembl chrNW_004936478:3,824,715...3,827,277 		JBrowse link
G Hoxa9 homeobox A9 ISO ClinVar Annotator: match by term: Hand-foot-genital syndrome ClinVar NCBI chrNW_004936478:3,789,961...3,793,116
Ensembl chrNW_004936478:3,789,961...3,793,845 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9489
      hand-foot-genital syndrome 2
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        Congenital Abnormalities 7058
          Musculoskeletal Abnormalities 3132
            Congenital Limb Deformities 975
              Lower Extremity Deformities, Congenital 178
                Congenital Foot Deformities 170
                  hand-foot-genital syndrome 2
paths to the root