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 joint morphology (HP:0001367)

Parent Node:
Abnormal forearm morphology (HP:0002973)

Parent Node:
Abnormality of the synovia (HP:0005262)

..Starting node
..Abnormality of the radioulnar joints (HP:0003059)

Term ID:

3059

Name:

Abnormality of the radioulnar joints

Synonym:

Definition:

Comments:

Reference:

HP:0003059

Genes and Diseases:

Child Nodes:

........

Wide radioulnar joints (HP:0003973)

........

Maldevelopment of radioulnar joint (HP:0005829)

........

Radioulnar dislocation (HP:0006439)

Sister Nodes:

Abnormal hip joint morphology (HP:0001384)

Stiff interphalangeal joints (HP:0005198)

Synovial hypertrophy (HP:0005186)

Synovitis (HP:0100769)

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:0003059	HP:0003059	Abnormality of the radioulnar joints	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0003059	HP:0003059	Abnormality of the radioulnar joints	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity		38
HP:0003059	HP:0003059	Abnormality of the radioulnar joints	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0003059	HP:0003059	Abnormality of the radioulnar joints	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity		3
HP:0003059	HP:0003059	Abnormality of the radioulnar joints	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0003059	HP:0003059	Abnormality of the radioulnar joints	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional	214
HP:0003059	HP:0003973	Wide radioulnar joints	1	CL E G H
HP:0003059	HP:0005829	Maldevelopment of radioulnar joint	1	CL E G H
HP:0003059	HP:0006439	Radioulnar dislocation	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0003059	HP:0006439	Radioulnar dislocation	1	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent	38
HP:0003059	HP:0006439	Radioulnar dislocation	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85
HP:0003059	HP:0006439	Radioulnar dislocation	1	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent	3
HP:0003059	HP:0006439	Radioulnar dislocation	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76

Genes (6) :AEBP1 B3GALT6 CANT1 EXOC6B POR TRPV4

Diseases (5) :ORPHA:536532 ORPHA:93359 OMIM:251450 ORPHA:95699 ORPHA:93314

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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