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 upper limb metaphysis morphology (HP:0009809)

Grandparent Node:
Metaphyseal widening (HP:0003016)

Parent Node:
Flared metaphysis (HP:0003015)

Parent Node:
Upper limb metaphyseal widening (HP:0003856)

..Starting node
..Flared upper limb metaphysis (HP:0003849)

Term ID:

3849

Name:

Flared upper limb metaphysis

Synonym:

Flared metaphyses of the upper limbs; Flared wide portion of the upper limb bone

Definition:

The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm.

Comments:

Reference:

HP:0003849

Genes and Diseases:

Child Nodes:

........

Flared humeral metaphysis (HP:0003911)

........

Flared elbow metaphyses (HP:0003950)

........

Flared radial metaphysis (HP:0004018)

Sister Nodes:

Broad radial metaphysis (HP:0004026)

Wide ulnar metaphysis (HP:0004047)

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:0003849	HP:0003849	Flared upper limb metaphysis	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0003849	HP:0003849	Flared upper limb metaphysis	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0003849	HP:0003950	Flared elbow metaphyses	1	CL E G H
HP:0003849	HP:0004018	Flared radial metaphysis	1	CL E G H
HP:0003849	HP:0003911	Flared humeral metaphysis	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0003849	HP:0003911	Flared humeral metaphysis	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.	214

Genes (2) :EZH2 TRPV4

Diseases (2) :OMIM:277590 OMIM:156530

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