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:
Metaphyseal widening (HP:0003016)

Parent Node:
Flared metaphysis (HP:0003015)

..Starting node
..Flared lower limb metaphysis (HP:0030307)

Term ID:

30307

Name:

Flared lower limb metaphysis

Synonym:

Flared metaphysis of lower limb bone

Definition:

The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg.

Comments:

Reference:

HP:0030307

Genes and Diseases:

Child Nodes:

........

Flared femoral metaphysis (HP:0002834)

........

Flared distal tibial metaphysis (HP:0030308)

........

Flared distal fibular metaphysis (HP:0030309)

Sister Nodes:

Flared upper limb metaphysis (HP:0003849)

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:0030307	HP:0030307	Flared lower limb metaphysis	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia		222
HP:0030307	HP:0030307	Flared lower limb metaphysis	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0030307	HP:0030307	Flared lower limb metaphysis	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0030307	HP:0030307	Flared lower limb metaphysis	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0030307	HP:0030307	Flared lower limb metaphysis	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0030307	HP:0030309	Flared distal fibular metaphysis	1	CL E G H
HP:0030307	HP:0030308	Flared distal tibial metaphysis	1	CL E G H
HP:0030307	HP:0002834	Flared femoral metaphysis	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional	222
HP:0030307	HP:0002834	Flared femoral metaphysis	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0030307	HP:0002834	Flared femoral metaphysis	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0030307	HP:0002834	Flared femoral metaphysis	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.	214

Genes (5) :COL11A2 COMP EZH2 POLR1A TRPV4

Diseases (5) :ORPHA:1427 OMIM:177170 OMIM:277590 OMIM:616462 OMIM:156530

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