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 femoral metaphysis morphology (HP:0006489)

Parent Node:
Distal femoral metaphyseal abnormality (HP:0030299)

..Starting node
..Wide distal femoral metaphysis (HP:0006387)

Term ID:

6387

Name:

Wide distal femoral metaphysis

Synonym:

Broad outermost wide portion of thighbone; Wide distal metaphysis of femur

Definition:

Increased width of the distal part of the shaft (metaphysis) of the femur.

Comments:

Reference:

HP:0006387

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006387	HP:0006387	Wide distal femoral metaphysis	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0006387	HP:0006387	Wide distal femoral metaphysis	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143

Genes (2) :EZH2 SETBP1

Diseases (2) :OMIM:277590 OMIM:269150

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.