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
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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 14920
    syndrome 4714
      Fuhrmann syndrome 1
Path 2
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  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        Congenital Abnormalities 3197
          Musculoskeletal Abnormalities 1196
            Congenital Limb Deformities 344
              Lower Extremity Deformities, Congenital 75
                Congenital Foot Deformities 68
                  Fuhrmann syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.