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:
Localized skin lesion (HP:0011355)

Parent Node:
Cutaneous cyst (HP:0025245)

..Starting node
..Epidermoid cyst (HP:0200040)

Term ID:	200040
Name:	Epidermoid cyst
Synonym:	Epidermal cyst; Epidermal inclusion cyst; Epidermoid cysts; Infundibular cyst; Keratin cyst; Sebaceous cyst; Skin cyst
Definition:	Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts.
Comments:
Reference:	HP:0200040
Genes and Diseases:	SELECT DISTINCT 'HP:0200040' 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:0200040' AND g.term1_id = t.id AND g.distance <=20 AND t2.id = g.term2_id) order by g.distance, gene, DiseaseName;