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:
Broad femoral metaphyses (HP:0006417)

Parent Node:
Proximal femoral metaphyseal abnormality (HP:0006431)

..Starting node
..Wide proximal femoral metaphysis (HP:0008783)

Term ID:

8783

Name:

Wide proximal femoral metaphysis

Synonym:

Wide metaphysis of innermost thighbone

Definition:

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

Comments:

Reference:

HP:0008783

Genes and Diseases:

Child Nodes:

Sister Nodes:

Proximal femoral metaphyseal irregularity (HP:0003411)

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:0008783	HP:0008783	Wide proximal femoral metaphysis	0	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type	.	2

Genes (1) :UFSP2

Diseases (1) :OMIM:142669

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