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 elbow (HP:0009811)

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

Parent Node:
Elbow dislocation (HP:0003042)

..Starting node
..Bilateral elbow dislocations (HP:0005021)

Term ID:

5021

Name:

Bilateral elbow dislocations

Synonym:

Dislocated elbows on both sides

Definition:

Comments:

Reference:

HP:0005021

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dislocated radial head (HP:0003083)

Radial head subluxation (HP:0003048)

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:0005021	HP:0005021	Bilateral elbow dislocations	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	5
HP:0005021	HP:0005021	Bilateral elbow dislocations	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	165
HP:0005021	HP:0005021	Bilateral elbow dislocations	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63

Genes (3) :B3GAT3 CHST3 MAFB

Diseases (2) :OMIM:245600 OMIM:166300

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