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 metaphysis morphology (HP:0006490)

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

Parent Node:
Abnormal femoral metaphysis morphology (HP:0006489)

..Starting node
..Broad femoral metaphyses (HP:0006417)

Term ID:

6417

Name:

Broad femoral metaphyses

Synonym:

Broad wide portion of thigh bone

Definition:

Comments:

Reference:

HP:0006417

Genes and Diseases:

Child Nodes:

........

Wide proximal femoral metaphysis (HP:0008783)

Sister Nodes:

Distal femoral metaphyseal abnormality (HP:0030299)

Flared femoral metaphysis (HP:0002834)

Proximal femoral metaphyseal abnormality (HP:0006431)

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:0006417	HP:0006417	Broad femoral metaphyses	0	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome	.	145
HP:0006417	HP:0006417	Broad femoral metaphyses	0	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type		2
HP:0006417	HP:0008783	Wide proximal femoral metaphysis	1	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type	.	2

Genes (2) :FGFR3 UFSP2

Diseases (2) :OMIM:610474 OMIM:142669

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