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:
Abnormal upper limb metaphysis morphology (HP:0009809)

Parent Node:
Metaphyseal spurs (HP:0005054)

..Starting node
..Spurred metaphyses of the upper limbs (HP:0003855)

Term ID:

3855

Name:

Spurred metaphyses of the upper limbs

Synonym:

Spurred wide portion of upper limb bone

Definition:

Comments:

Reference:

HP:0003855

Genes and Diseases:

Child Nodes:

........

Spurred ulnar metaphysis (HP:0004046)

Sister Nodes:

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:0003855	HP:0003855	Spurred metaphyses of the upper limbs	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent	46
HP:0003855	HP:0004046	Spurred ulnar metaphysis	1	CL E G H

Genes (1) :TRAPPC2

Diseases (1) :ORPHA:93284

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