Human Phenotype Ontology

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 forearm morphology (HP:0002973)

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

Parent Node:
Abnormality of the radioulnar joints (HP:0003059)

..Starting node
..Radioulnar dislocation (HP:0006439)

Term ID:

6439

Name:

Radioulnar dislocation

Synonym:

Dislocated radioulnar joints

Definition:

Comments:

Reference:

HP:0006439

Genes and Diseases:

Child Nodes:

Sister Nodes:

Maldevelopment of radioulnar joint (HP:0005829)

Wide radioulnar joints (HP:0003973)

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:0006439	HP:0006439	Radioulnar dislocation	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0006439	HP:0006439	Radioulnar dislocation	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent	38
HP:0006439	HP:0006439	Radioulnar dislocation	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85
HP:0006439	HP:0006439	Radioulnar dislocation	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent	3
HP:0006439	HP:0006439	Radioulnar dislocation	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76

Genes (5) :AEBP1 B3GALT6 CANT1 EXOC6B POR

Diseases (4) :ORPHA:536532 ORPHA:93359 OMIM:251450 ORPHA:95699

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