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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



show annotations for term's descendants           Sort by:
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 21142
    physical disorder 4940
      laryngomalacia 1
        Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia 0
Path 2
Term Annotations click to browse term
  disease 21142
    Pathological Conditions, Signs and Symptoms 13286
      Signs and Symptoms 10764
        Neurologic Manifestations 9994
          sensory system disease 6892
            Otorhinolaryngologic Diseases 1718
              laryngeal disease 69
                laryngomalacia 1
                  Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia 0
paths to the root