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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:Fuhrmann syndrome
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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
 xref: GARD:2410;   ICD10CM:Q74.8;   ORDO:2854


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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 term: Fuhrmann syndrome OMIM
ClinVar		 PMID:9128926 PMID:16826533 PMID:25741868 PMID:28492532 NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      Fuhrmann syndrome 1
Path 2
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18246
        Congenital Abnormalities 7506
          Musculoskeletal Abnormalities 3217
            Congenital Limb Deformities 1027
              Lower Extremity Deformities, Congenital 186
                Congenital Foot Deformities 178
                  Fuhrmann syndrome 1
paths to the root