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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    syndrome 5162
      craniofacial-deafness-hand syndrome 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        sensory system disease 4684
          Otorhinolaryngologic Diseases 1074
            auditory system disease 683
              Hearing Disorders 567
                Hearing Loss 563
                  sensorineural hearing loss 457
                    craniofacial-deafness-hand syndrome 1
paths to the root


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