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ONTOLOGY REPORT - ANNOTATIONS


Term:Fuhrmann syndrome
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Accession:DOID:0090067 term browser browse the term
Definition:A bone development disease characterized by autosomal recessive inheritance of bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in homozygous mutation in the WNT7A gene on chromosome 3p25. (DO)
Synonyms:exact_synonym: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY
 primary_id: MESH:C538189;   RDO:0004131
 alt_id: OMIM:228930
 xref: GARD:2410;   ORDO:2854
For additional species annotation, visit the Alliance of Genome Resources.


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Fuhrmann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt7a Wnt family member 7A JBrowse link 4 122,994,425 123,040,609 RGD:7240710
RGD:8554872

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Path 1
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  disease 14759
    syndrome 4210
      Fuhrmann syndrome 1
Path 2
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Musculoskeletal Abnormalities 1185
            Congenital Limb Deformities 340
              Lower Extremity Deformities, Congenital 73
                Congenital Foot Deformities 66
                  Fuhrmann syndrome 1
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