Term ID: |
309 |
Name: |
Abnormal midface morphology |
Synonym: |
Abnormal morphology of the midface; Abnormality of the midface; Anomaly of the midface; Deformity of the midface; Malformation of the midface |
Definition: |
An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. |
Comments: |
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Reference: |
HP:0000309 |
Genes and Diseases: | SELECT DISTINCT 'HP:0000309' 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:0000309' AND g.term1_id = t.id AND g.distance <=20 AND t2.id = g.term2_id)
order by g.distance, gene, DiseaseName; | |