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ONTOLOGY REPORT - ANNOTATIONS


Term:craniofacial-deafness-hand syndrome
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Accession:DOID:0111336 term browser browse the term
Definition:An autosomal dominant disease characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in PAX3 on chromosome 2q36.1. (DO)
Synonyms:exact_synonym: CDHS;   Sommer-Young-Wee-Frye syndrome
 primary_id: MESH:C536453
 alt_id: OMIM:122880;   RDO:0002047
 xref: GARD:1571;   ORDO:1529
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craniofacial-deafness-hand syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      craniofacial-deafness-hand syndrome 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        sensory system disease 4697
          Otorhinolaryngologic Diseases 1078
            auditory system disease 686
              Hearing Disorders 570
                Hearing Loss 566
                  sensorineural hearing loss 459
                    craniofacial-deafness-hand syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.