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:
Exostoses (HP:0100777)

Parent Node:
Multiple exostoses (HP:0002762)

..Starting node
..Multiple long-bone exostoses (HP:0005039)

Term ID:

5039

Name:

Multiple long-bone exostoses

Synonym:

Multiple exostoses of long tubular bones

Definition:

Multiple exostoses originating in long bones.

Comments:

Reference:

HP:0005039

Genes and Diseases:

Child Nodes:

Sister Nodes:

Humeral exostoses (HP:0003872)

Multiple digital exostoses (HP:0005655)

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:0005039	HP:0005039	Multiple long-bone exostoses	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent	96
HP:0005039	HP:0005039	Multiple long-bone exostoses	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent	171

Genes (2) :EXT1 TRPS1

Diseases (1) :ORPHA:502

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