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ONTOLOGY REPORT - ANNOTATIONS


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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Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7103
        genetic disease 6469
          split hand-foot malformation 1 with sensorineural hearing loss 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      nervous system disease 9148
        sensory system disease 4270
          Otorhinolaryngologic Diseases 1044
            auditory system disease 668
              Hearing Disorders 554
                Hearing Loss 550
                  sensorineural hearing loss 439
                    split hand-foot malformation 1 with sensorineural hearing loss 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.