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 neck/head morphology (HP:0003366)

Parent Node:
Abnormal femoral neck morphology (HP:0003367)

..Starting node
..Narrow femoral neck (HP:0008819)

Term ID:

8819

Name:

Narrow femoral neck

Synonym:

Narrow femoral necks; Narrow neck of thigh bone

Definition:

An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).

Comments:

Reference:

HP:0008819

Genes and Diseases:

Child Nodes:

Sister Nodes:

Broad femoral neck (HP:0006429)

Coxa valga (HP:0002673)

Coxa vara (HP:0002812)

Short femoral neck (HP:0100864)

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:0008819	HP:0008819	Narrow femoral neck	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.	284
HP:0008819	HP:0008819	Narrow femoral neck	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14

Genes (2) :COL2A1 KIF22

Diseases (2) :OMIM:609162 OMIM:603546

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