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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:laryngomalacia
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Accession:DOID:0080833 term browser browse the term
Definition:A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying. (DO)
Synonyms:exact_synonym: chondromalacia of larynx;   congenital laryngomalacia;   laryngomalacias;   larynx chondromalacia;   larynx chondromalacias
 primary_id: MESH:D055092
 alt_id: OMIM:150280
 xref: GARD:6865;   ICD10CM:Q31.5;   ORDO:2373
For additional species annotation, visit the Alliance of Genome Resources.



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laryngomalacia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Congenital laryngomalacia ClinVar PMID:25741868 NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    physical disorder 4121
      laryngomalacia 1
        Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia 0
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        sensory system disease 6393
          Otorhinolaryngologic Diseases 1651
            laryngeal disease 72
              laryngomalacia 1
                Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia 0
paths to the root