Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal morphology of the great vessels (HP:0030962)

Grandparent Node:
Abnormal systemic arterial morphology (HP:0011004)

Parent Node:
Abnormal aortic morphology (HP:0001679)

..Starting node
..Abnormal ascending aorta morphology (HP:0031784)

Term ID:	31784
Name:	Abnormal ascending aorta morphology
Synonym:
Definition:	Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise.
Comments:
Reference:	HP:0031784
Genes and Diseases:	SELECT DISTINCT 'HP:0031784' 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:0031784' AND g.term1_id = t.id AND g.distance <=20 AND t2.id = g.term2_id) order by g.distance, gene, DiseaseName;