Human Phenotype Ontology

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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:
Abnormality of skin physiology (HP:0011122)

Grandparent Node:
Increased inflammatory response (HP:0012649)

Parent Node:
Inflammatory abnormality of the skin (HP:0011123)

..Starting node
..Atopic dermatitis (HP:0001047)

Term ID:	1047
Name:	Atopic dermatitis
Synonym:	Atopic dermatitis, chronic; Baby eczema; Dermatitis, Atopic
Definition:	Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.
Comments:
Reference:	HP:0001047
Genes and Diseases:	SELECT DISTINCT 'HP:0001047' 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:0001047' AND g.term1_id = t.id AND g.distance <=20 AND t2.id = g.term2_id) order by g.distance, gene, DiseaseName;