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:
Limited elbow movement (HP:0002996)

Parent Node:
Limited elbow flexion (HP:0006376)

..Starting node
..Fixed elbow flexion (HP:0006471)

Term ID:

6471

Name:

Fixed elbow flexion

Synonym:

Definition:

Comments:

Reference:

HP:0006471

Genes and Diseases:

Child Nodes:

Sister Nodes:

Limited elbow flexion/extension (HP:0005060)

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:0006471	HP:0006471	Fixed elbow flexion	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0006471	HP:0006471	Fixed elbow flexion	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0006471	HP:0006471	Fixed elbow flexion	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent	165
HP:0006471	HP:0006471	Fixed elbow flexion	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent	237

Genes (4) :ASXL1 CHST3 LMX1B STXBP1

Diseases (3) :ORPHA:97297 OMIM:143095 ORPHA:495818

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