Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 sclerosis (HP:0004979)

..Starting node
..Streaky metaphyseal sclerosis (HP:0005092)

Term ID:

5092

Name:

Streaky metaphyseal sclerosis

Synonym:

Streak increase in bone density in wide portion of wide bone

Definition:

The presence of streaks (bands) of abnormally increased density of metaphyseal bone.

Comments:

Reference:

HP:0005092

Genes and Diseases:

Child Nodes:

Sister Nodes:

Metaphyseal dappling (HP:0011860)

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:0005092	HP:0005092	Streaky metaphyseal sclerosis	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14

Genes (1) :KIF22

Diseases (1) :OMIM:603546

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