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:
Abnormal lower limb bone morphology (HP:0040069)

Grandparent Node:
Aplasia/hypoplasia involving bones of the extremities (HP:0045060)

Parent Node:
Abnormality of femur morphology (HP:0002823)

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

..Starting node
..Aplasia/hypoplasia of the femur (HP:0005613)

Term ID:	5613
Name:	Aplasia/hypoplasia of the femur
Synonym:	Absent/small thighbone; Absent/underdeveloped thighbone; Hypoplastic to absent femora; Hypoplastic/aplastic femora
Definition:	Absence or underdevelopment of the femur.
Comments:
Reference:	HP:0005613
Genes and Diseases:	SELECT DISTINCT 'HP:0005613' 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:0005613' AND g.term1_id = t.id AND g.distance <=20 AND t2.id = g.term2_id) order by g.distance, gene, DiseaseName;