Human Phenotype Ontology

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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 widening (HP:0003016)

..Starting node
..Upper limb metaphyseal widening (HP:0003856)

Term ID:

3856

Name:

Upper limb metaphyseal widening

Synonym:

Broad wide portion of upper limb bone; Wide/broad metaphyses of the upper limbs

Definition:

Increased width (breadth) of metaphyses of the arms.

Comments:

Reference:

HP:0003856

Genes and Diseases:

Child Nodes:

........

Flared upper limb metaphysis (HP:0003849)

................... HP:0003911 Flared humeral metaphysis
................... HP:0003950 Flared elbow metaphyses
................... HP:0004018 Flared radial metaphysis

........

Broad radial metaphysis (HP:0004026)

........

Wide ulnar metaphysis (HP:0004047)

Sister Nodes:

Dumbbell-shaped long bone (HP:0000947)

Flared metaphysis (HP:0003015)

Widened proximal tibial metaphyses (HP:0005028)

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:0003856	HP:0003856	Upper limb metaphyseal widening	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0003856	HP:0003856	Upper limb metaphyseal widening	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent	217
HP:0003856	HP:0003856	Upper limb metaphyseal widening	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0003856	HP:0004026	Broad radial metaphysis	1	CL E G H
HP:0003856	HP:0004047	Wide ulnar metaphysis	1	CL E G H
HP:0003856	HP:0003849	Flared upper limb metaphysis	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0003856	HP:0003849	Flared upper limb metaphysis	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0003856	HP:0004018	Flared radial metaphysis	2	CL E G H
HP:0003856	HP:0003950	Flared elbow metaphyses	2	CL E G H
HP:0003856	HP:0003911	Flared humeral metaphysis	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0003856	HP:0003911	Flared humeral metaphysis	2	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.	214

Genes (3) :EZH2 PHEX TRPV4

Diseases (3) :OMIM:277590 ORPHA:89936 OMIM:156530

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

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