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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:De Hauwere syndrome
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Accession:DOID:9000045 term browser browse the term
Synonyms:exact_synonym: Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities;   Iris Dysplasia with Ocular Hypertelorism, Psychomotor Retardation, and Sensorineural Deafness
 primary_id: MESH:C566234
 alt_id: OMIM:109120


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De Hauwere syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      De Hauwere syndrome 2
Path 2
Term Annotations click to browse term
  disease 21089
    Pathological Conditions, Signs and Symptoms 13265
      Signs and Symptoms 10704
        Neurologic Manifestations 9941
          sensory system disease 6836
            Otorhinolaryngologic Diseases 1778
              auditory system disease 1041
                Hearing Disorders 776
                  Hearing Loss 773
                    sensorineural hearing loss 588
                      De Hauwere syndrome 2
paths to the root