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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 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.


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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 16022
    syndrome 6143
      Fuhrmann syndrome 1
Path 2
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  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        Congenital Abnormalities 4509
          Musculoskeletal Abnormalities 1504
            Congenital Limb Deformities 422
              Lower Extremity Deformities, Congenital 71
                Congenital Foot Deformities 63
                  Fuhrmann syndrome 1
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