Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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:Fuhrmann syndrome
go back to main search page
Accession:DOID:0090067 term browser browse the term
Definition:A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25. (DO)
Synonyms:exact_synonym: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY
 primary_id: MESH:C538189
 alt_id: OMIM:228930;   RDO:0004131
 xref: GARD:2410;   ICD10CM:Q74.8;   ORDO:2854
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Fuhrmann syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by OMIM:228930 OMIM
ClinVar
PMID:9128926, PMID:16826533 NCBI chr 4:122,994,425...123,040,609
Ensembl chr 4:122,994,425...123,040,609
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Fuhrmann syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4791
          Musculoskeletal Abnormalities 1755
            Congenital Limb Deformities 503
              Lower Extremity Deformities, Congenital 129
                Congenital Foot Deformities 121
                  Fuhrmann syndrome 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.