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
..Distal femoral metaphyseal abnormality (HP:0030299)

Term ID:

30299

Name:

Distal femoral metaphyseal abnormality

Synonym:

Abnormality of wide portion of outermost thighbone

Definition:

An anomaly of the metaphysis of the distal femur (close to the knee).

Comments:

Reference:

HP:0030299

Genes and Diseases:

Child Nodes:

........

Wide distal femoral metaphysis (HP:0006387)

Sister Nodes:

Broad femoral metaphyses (HP:0006417)

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:0030299	HP:0030299	Distal femoral metaphyseal abnormality	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040281 - Very frequent	79
HP:0030299	HP:0030299	Distal femoral metaphyseal abnormality	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0030299	HP:0030299	Distal femoral metaphyseal abnormality	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0030299	HP:0006387	Wide distal femoral metaphysis	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0030299	HP:0006387	Wide distal femoral metaphysis	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143

Genes (3) :COL10A1 EZH2 SETBP1

Diseases (3) :ORPHA:174 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.