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:
Abnormality of femur morphology (HP:0002823)

Grandparent Node:
Aplasia/hypoplasia involving bones of the lower limbs (HP:0006493)

Parent Node:
Abnormal femoral neck/head morphology (HP:0003366)

Parent Node:
Aplasia/Hypoplasia involving the pelvis (HP:0009103)

Parent Node:
Aplasia/hypoplasia of the femur (HP:0005613)

..Starting node
..Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)

Term ID:	9108
Name:	Aplasia/Hypoplasia involving the femoral head and neck
Synonym:	Absent/small head and neck of thighbone; Absent/underdeveloped head and neck of thighbone
Definition:
Comments:
Reference:	HP:0009108
Genes and Diseases:	SELECT DISTINCT 'HP:0009108' 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:0009108' AND g.term1_id = t.id AND g.distance <=20 AND t2.id = g.term2_id) order by g.distance, gene, DiseaseName;