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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



show annotations for term's descendants           Sort by:
hand-foot-genital syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA10-HOXA9 HOXA10-HOXA9 readthrough IAGP ClinVar Annotator: match by term: Hand-foot-genital syndrome ClinVar NCBI chr 7:27,162,438...27,180,261 JBrowse link
G HOXA13 homeobox A13 IAGP
ISS
EXP
hand-foot-genital syndrome, OMIM:140000 DNA,protein:point_mutation:CDS:Trp369Ter
ClinVar Annotator: match by term: Hand-foot-genital syndrome
ClinVar Annotator: match by term: Hand foot uterus syndrome
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
OMIM
CTD
RGD
PMID:1442892 PMID:2774004 PMID:5450271 PMID:8673126 PMID:9020844 More... RGD:1599526 NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
JBrowse link
G HOXA9 homeobox A9 IAGP ClinVar Annotator: match by term: Hand-foot-genital syndrome ClinVar NCBI chr 7:27,162,438...27,165,537
Ensembl chr 7:27,162,438...27,175,180
JBrowse link
G LOC107126288 NUP98-HOXA13 recombination region IAGP ClinVar Annotator: match by term: Hand-foot-genital syndrome ClinVar PMID:1442892 PMID:2774004 PMID:9020844 PMID:10839976 PMID:12073020 More... NCBI chr 7:27,198,443...27,202,743 JBrowse link
G LOC107197952 NUP98-HOXA9 recombination region IAGP ClinVar Annotator: match by term: Hand-foot-genital syndrome ClinVar NCBI chr 7:27,163,062...27,169,241 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    syndrome 17742
      hand-foot-genital syndrome 5
Path 2
Term Annotations click to browse term
  disease 40760
    Developmental Disease 36035
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33173
        Congenital Abnormalities 13764
          Musculoskeletal Abnormalities 5196
            Congenital Limb Deformities 1405
              Lower Extremity Deformities, Congenital 228
                Congenital Foot Deformities 219
                  hand-foot-genital syndrome 5
paths to the root