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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
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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 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.


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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 ClinVar Annotator: match by OMIM:122880
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniofacial deafness hand syndrome
ClinVar Annotator: match by term: Craniofacial-deafness-hand syndrome
OMIM
ClinVar
CTD
PMID:6859126, PMID:8589691, PMID:8664898, PMID:8863157, PMID:9584079, PMID:9856573, PMID:18553554, PMID:23806086, PMID:24033266, PMID:24088041, PMID:25736269, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29407415 NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      craniofacial-deafness-hand syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          Otorhinolaryngologic Diseases 1202
            auditory system disease 767
              Hearing Disorders 623
                Hearing Loss 618
                  sensorineural hearing loss 493
                    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.