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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:CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME
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Accession:DOID:9009257 term browser browse the term
Definition:This is a syndromic disease that has developmental abnormalities involving structures of the heart, cleft lip/palate, craniofacial dysmoprhism, and hearing loss. It has_material_basis_in mutation in the HYAL2 gene on chromosome 3p21.31.
Synonyms:exact_synonym: CLEFT LIP AND PALATE/CRANIOFACIAL DYSMORPHISM/CONGENITAL HEART DEFECT/HEARING LOSS SYNDROME;   cleft lip and palate, craniofacial dysmorphism, congenital heart defect, deafness syndrome;   hyaluronidase 2 deficiency


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CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyal2 hyaluronidase 2 ISO ClinVar Annotator: match by term: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome ClinVar PMID:25741868 NCBI chr 8:108,241,895...108,246,853
Ensembl chr 8:108,243,133...108,246,850 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19104
    physical disorder 5185
      congenital heart disease 1405
        CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 19104
    Pathological Conditions, Signs and Symptoms 13617
      Signs and Symptoms 11197
        Neurologic Manifestations 10431
          sensory system disease 7340
            Otorhinolaryngologic Diseases 1795
              auditory system disease 1055
                Hearing Disorders 842
                  Hearing Loss 837
                    CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME 1
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