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:
Abnormality of the upper limb (HP:0002817)

Grandparent Node:
obsolete Anomaly of the limb diaphyses morphology (HP:0006504)

Parent Node:
Anomaly of the upper limb diaphyses (HP:0009808)

..Starting node
..Cortical diaphyseal thickening of the upper limbs (HP:0003859)

Term ID:

3859

Name:

Cortical diaphyseal thickening of the upper limbs

Synonym:

Definition:

Comments:

Reference:

HP:0003859

Genes and Diseases:

Child Nodes:

........

Cortical thickening of humeral diaphysis (HP:0003928)

Sister Nodes:

Abnormal hand diaphysis morphology (HP:0005925)

Abnormal humeral diaphysis morphology (HP:0003926)

Abnormality of radial diaphysis (HP:0004027)

Broad diaphyses of the upper limbs (HP:0003861)

Cortical diaphyseal irregularity of the upper limbs (HP:0003858)

Diaphyseal sclerosis of the upper limbs (HP:0003860)

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:0003859	HP:0003859	Cortical diaphyseal thickening of the upper limbs	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0003859	HP:0003859	Cortical diaphyseal thickening of the upper limbs	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0003859	HP:0003928	Cortical thickening of humeral diaphysis	1	CL E G H

Genes (2) :AIP GPR101

Diseases (1) :ORPHA:963

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