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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 homeo box A13 ISO
ISS		 hand-foot-genital syndrome, OMIM:140000
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HFG syndrome | ClinVar Annotator: match by term: Hand-foot-genital syndrome		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:1442892 PMID:2774004 PMID:5450271 PMID:8673126 PMID:9020844 More... RGD:1599526 NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091 		JBrowse link
G Hoxa9 homeobox A9 ISO ClinVar Annotator: match by term: Hand-foot-genital syndrome ClinVar NCBI chr 4:81,323,235...81,329,344
Ensembl chr 4:81,323,382...81,326,358 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      hand-foot-genital syndrome 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        Congenital Abnormalities 7577
          Musculoskeletal Abnormalities 3303
            Congenital Limb Deformities 1023
              Lower Extremity Deformities, Congenital 183
                Congenital Foot Deformities 175
                  hand-foot-genital syndrome 2
paths to the root