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:
Joint dislocation (HP:0001373)

Parent Node:
Abnormality of the wrist (HP:0003019)

Parent Node:
Upper extremity joint dislocation (HP:0030310)

..Starting node
..Dislocated wrist (HP:0003994)

Term ID:

3994

Name:

Dislocated wrist

Synonym:

Dislocated wrist; Dislocations of the wrists

Definition:

An injury of the wrist with displacement of any of the eight carpal bones.

Comments:

Reference:

HP:0003994

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elbow dislocation (HP:0003042)

Shoulder dislocation (HP:0003834)

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:0003994	HP:0003994	Dislocated wrist	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0003994	HP:0003994	Dislocated wrist	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233

Genes (2) :AEBP1 FLNB

Diseases (2) :ORPHA:536532 OMIM:150250

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