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Term:split hand-foot malformation 1 with sensorineural hearing loss
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Accession:DOID:0090024 term browser browse the term
Definition:A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: SHFM1D;   SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE;   congenital deafness and split hands and feet;   congenital deafness with split hands and feet
 primary_id: MESH:C565647
 alt_id: OMIM:220600;   RDO:0014230
 xref: ORDO:71271
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split hand-foot malformation 1 with sensorineural hearing loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlx5 distal-less homeobox 5 JBrowse link 4 32,387,741 32,392,085 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          split hand-foot malformation 1 with sensorineural hearing loss 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          Otorhinolaryngologic Diseases 1035
            auditory system disease 660
              Hearing Disorders 549
                Hearing Loss 545
                  sensorineural hearing loss 422
                    split hand-foot malformation 1 with sensorineural hearing loss 1
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