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:
Abnormality of lower limb joint (HP:0100491)

Parent Node:
Abnormality of the ankles (HP:0003028)

..Starting node
..Increased laxity of ankles (HP:0006460)

Term ID:

6460

Name:

Increased laxity of ankles

Synonym:

Definition:

Comments:

Reference:

HP:0006460

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ankle clonus (HP:0011448)

Ankle flexion contracture (HP:0006466)

Ankle swelling (HP:0001785)

Distal tibial bowing (HP:0006414)

Enlargement of the ankles (HP:0003029)

Limitation of movement at ankles (HP:0010505)

Talipes valgus (HP:0004684)

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:0006460	HP:0006460	Increased laxity of ankles	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0006460	HP:0006460	Increased laxity of ankles	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0006460	HP:0006460	Increased laxity of ankles	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0006460	HP:0006460	Increased laxity of ankles	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional	89
HP:0006460	HP:0006460	Increased laxity of ankles	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0006460	HP:0006460	Increased laxity of ankles	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent	203
HP:0006460	HP:0006460	Increased laxity of ankles	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional	11

Genes (7) :COL6A1 COL6A2 COL6A3 COMP GLI3 MFN2 PYCR2

Diseases (5) :OMIM:254090 ORPHA:750 ORPHA:93322 ORPHA:99947 ORPHA:481152

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