Term ID: |
245 |
Name: |
Abnormal paranasal sinus morphology |
Synonym: |
Abnormality of the paranasal sinuses; Abnormality of the sinuses; Abnormality of the sinuses of the head |
Definition: |
Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses. |
Comments: |
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Reference: |
HP:0000245 |
Genes and Diseases: | SELECT DISTINCT 'HP:0000245' AS Input, t2.acc as HPO_ID, t2.name as HPO_term, g.Distance, t1.Entrez_gene AS Gene, t1.Entrez_gene_id AS Gene_id_entrez, t1.HGNC_ID, t1.DiseaseId, t1.DiseaseName, t1.Frequency, t1.Onset
#, t1.ConceptID, Source, t1.Typical_association
, h.Variants AS HGMD_variants, c.variants AS ClinVar_variants
FROM hpo202212.graph_path AS g, hpo202212.term AS t, hpo202212.term AS t2
LEFT JOIN hpo202212.hpo_phenotype_to_genes as t1 ON (t1.HPO = t2.acc)
LEFT JOIN gb_exome.clinvar_variation_latest_sum AS c ON ( c.Gene = t1.Entrez_Gene)
LEFT JOIN gb_exome.hgmd_allmumt_sum_latest AS h ON (h.gene = t1.Entrez_Gene )
WHERE (t.acc ='HP:0000245' AND g.term1_id = t.id AND g.distance <=20 AND t2.id = g.term2_id)
order by g.distance, gene, DiseaseName; | |