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 diaphysis morphology (HP:0000940)

Grandparent Node:
Abnormality of limb bone morphology (HP:0002813)

Parent Node:
Abnormality of the upper limb (HP:0002817)

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

..Starting node
..Anomaly of the upper limb diaphyses (HP:0009808)

Term ID:

9808

Name:

Anomaly of the upper limb diaphyses

Synonym:

Abnormality involving the diaphyses of the upper limbs; Abnormality of shaft of long bone of the upper limbs; Diaphyseal abnormality of the upper limbs

Definition:

A structural abnormality of a diaphysis of the arm.

Comments:

Reference:

HP:0009808

Genes and Diseases:

Child Nodes:

........

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

................... HP:0003927 Cortical irregularity of humeral diaphysis

........

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

................... HP:0003928 Cortical thickening of humeral diaphysis

........

Diaphyseal sclerosis of the upper limbs (HP:0003860)

................... HP:0003933 Sclerosis of humeral diaphysis

........

Broad diaphyses of the upper limbs (HP:0003861)

................... HP:0003935 Wide humeral diaphysis

........

Abnormality of the humeral diaphysis (HP:0003926)

................... HP:0003889 Abnormality of the deltoid tuberosities
................... HP:0003927 Cortical irregularity of humeral diaphysis
................... HP:0003928 Cortical thickening of humeral diaphysis
................... HP:0003929 Ground glass opacity of humeral diaphysis
................... HP:0003930 Lytic defects of humeral diaphysis
................... HP:0003931 Periosteal new bone of humeral diaphysis
................... HP:0003932 Sclerotic foci of humeral diaphysis
................... HP:0003933 Sclerosis of humeral diaphysis
................... HP:0003934 Slender humeral diaphysis
................... HP:0003935 Wide humeral diaphysis

........

Abnormality of radial diaphysis (HP:0004027)

................... HP:0004028 Spurs of radial diaphysis
................... HP:0004029 Lytic defects of radial diaphysis
................... HP:0004030 Patchy sclerosis of radial diaphysis
................... HP:0004031 Broad radial diaphysis

........

Abnormalities of the diaphyses of the hand (HP:0005925)

Sister Nodes:

Anomaly of lower limb diaphyses (HP:0012699)

Bowing of the long bones (HP:0006487)

Broad long bone diaphyses (HP:0006371)

Increased density of long bone diaphyses (HP:0006440)

Thin long bone diaphyses (HP:0006470)

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:0009808	HP:0009808	Anomaly of the upper limb diaphyses	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0009808	HP:0009808	Anomaly of the upper limb diaphyses	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0009808	HP:0009808	Anomaly of the upper limb diaphyses	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0009808	HP:0004027	Abnormality of radial diaphysis	1	CL E G H
HP:0009808	HP:0005925	Abnormal hand diaphysis morphology	1	CL E G H
HP:0009808	HP:0003861	Broad diaphyses of the upper limbs	1	CL E G H
HP:0009808	HP:0003860	Diaphyseal sclerosis of the upper limbs	1	CL E G H
HP:0009808	HP:0003858	Cortical diaphyseal irregularity of the upper limbs	1	CL E G H
HP:0009808	HP:0003859	Cortical diaphyseal thickening of the upper limbs	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0009808	HP:0003859	Cortical diaphyseal thickening of the upper limbs	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0009808	HP:0003926	Abnormal humeral diaphysis morphology	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0009808	HP:0003929	Ground glass opacity of humeral diaphysis	2	CL E G H
HP:0009808	HP:0003935	Wide humeral diaphysis	2	CL E G H
HP:0009808	HP:0003928	Cortical thickening of humeral diaphysis	2	CL E G H
HP:0009808	HP:0003934	Slender humeral diaphysis	2	CL E G H
HP:0009808	HP:0004031	Broad radial diaphysis	2	CL E G H
HP:0009808	HP:0003927	Cortical irregularity of humeral diaphysis	2	CL E G H
HP:0009808	HP:0003933	Sclerosis of humeral diaphysis	2	CL E G H
HP:0009808	HP:0004030	Patchy sclerosis of radial diaphysis	2	CL E G H
HP:0009808	HP:0003932	Sclerotic foci of humeral diaphysis	2	CL E G H
HP:0009808	HP:0004029	Lytic defects of radial diaphysis	2	CL E G H
HP:0009808	HP:0003931	Periosteal new bone of humeral diaphysis	2	CL E G H
HP:0009808	HP:0004028	Spurs of radial diaphysis	2	CL E G H
HP:0009808	HP:0003930	Lytic defects of humeral diaphysis	2	CL E G H
HP:0009808	HP:0003889	Abnormal deltoid tuberosity morphology	2	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0009808	HP:0003890	Prominent deltoid tuberosities	3	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4

Genes (3) :AIP GPR101 PRKG2

Diseases (2) :ORPHA:963 OMIM:619636

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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