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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:craniofacial-deafness-hand syndrome
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Accession:DOID:0111336 term browser browse the term
Definition:A syndrome 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 the PAX3 gene on chromosome 2q36.1. (DO)
Synonyms:exact_synonym: CDHS;   Sommer-Young-Wee-Frye syndrome
 primary_id: MESH:C536453
 alt_id: OMIM:122880
 xref: GARD:1571;   ORDO:1529

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craniofacial-deafness-hand syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax3 paired box 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniofacial-deafness-hand syndrome
PMID:6859126 PMID:8589691 PMID:8664898 PMID:8863157 PMID:9584079 More... NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    syndrome 10792
      craniofacial-deafness-hand syndrome 1
Path 2
Term Annotations click to browse term
  disease 21121
    Pathological Conditions, Signs and Symptoms 13300
      Signs and Symptoms 10786
        Neurologic Manifestations 10019
          sensory system disease 6932
            Otorhinolaryngologic Diseases 1726
              auditory system disease 986
                Hearing Disorders 813
                  Hearing Loss 808
                    sensorineural hearing loss 618
                      craniofacial-deafness-hand syndrome 1
paths to the root