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 metaphysis morphology (HP:0000944)

Parent Node:
Metaphyseal widening (HP:0003016)

..Starting node
..Widened proximal tibial metaphyses (HP:0005028)

Term ID:

5028

Name:

Widened proximal tibial metaphyses

Synonym:

Wide innermost wide portion of shankbone bone; Wide innermost wide portion of shinbone bone

Definition:

Comments:

Reference:

HP:0005028

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dumbbell-shaped long bone (HP:0000947)

Flared metaphysis (HP:0003015)

Upper limb metaphyseal widening (HP:0003856)

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:0005028	HP:0005028	Widened proximal tibial metaphyses	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	.	90
HP:0005028	HP:0005028	Widened proximal tibial metaphyses	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040282 - Frequent	79

Genes (2) :BMPR1B COL10A1

Diseases (2) :OMIM:609441 ORPHA:174

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