Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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
go back to main search page
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 PAX3 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
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
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
OMIM
CTD
ClinVar
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      craniofacial-deafness-hand syndrome 1
Path 2
Term Annotations click to browse term
  disease 18256
    Pathological Conditions, Signs and Symptoms 12646
      Signs and Symptoms 10117
        Neurologic Manifestations 9338
          sensory system disease 6575
            Otorhinolaryngologic Diseases 1678
              auditory system disease 1081
                Hearing Disorders 820
                  Hearing Loss 816
                    sensorineural hearing loss 669
                      craniofacial-deafness-hand syndrome 1
paths to the root