Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.



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 Hoxa13 homeo box A13 ISO hand-foot-genital syndrome, OMIM:140000
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hand-foot-genital syndrome
OMIM
CTD
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      hand-foot-genital syndrome 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        Congenital Abnormalities 6693
          Musculoskeletal Abnormalities 2713
            Congenital Limb Deformities 601
              Lower Extremity Deformities, Congenital 96
                Congenital Foot Deformities 87
                  hand-foot-genital syndrome 1
paths to the root