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 irregularity (HP:0003025)

Parent Node:
Lower-limb metaphyseal irregularity (HP:0030291)

..Starting node
..Tibial metaphyseal irregularity (HP:0030292)

Term ID:

30292

Name:

Tibial metaphyseal irregularity

Synonym:

Definition:

Irregularity of the normally smooth surface of a metaphysis of a tibia.

Comments:

Reference:

HP:0030292

Genes and Diseases:

Child Nodes:

Sister Nodes:

Distal femoral metaphyseal irregularity (HP:0045079)

Fibular metaphyseal irregularity (HP:0030293)

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:0030292	HP:0030292	Tibial metaphyseal irregularity	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2

Genes (1) :RSPRY1

Diseases (1) :ORPHA:457395

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