Human Phenotype Ontology

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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 joint mobility (HP:0011729)

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

Parent Node:
Limitation of joint mobility (HP:0001376)

..Starting node
..Limitation of movement at ankles (HP:0010505)

Term ID:

10505

Name:

Limitation of movement at ankles

Synonym:

Definition:

An abnormal limitation of the mobility of the ankle joint.

Comments:

Reference:

HP:0010505

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ankylosis (HP:0031013)

Decreased movement range in interphalangeal joints (HP:0006203)

Joint stiffness (HP:0001387)

Limitation of knee mobility (HP:0010501)

Limited elbow movement (HP:0002996)

Limited hip movement (HP:0008800)

Limited interphalangeal movement (HP:0006064)

Limited shoulder movement (HP:0006467)

Limited wrist movement (HP:0006248)

Restricted chest movement (HP:0006596)

Restricted large joint movement (HP:0005193)

Scapulohumeral synostosis (HP:0006595)

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:0010505	HP:0010505	Limitation of movement at ankles	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0010505	HP:0010505	Limitation of movement at ankles	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0010505	HP:0010505	Limitation of movement at ankles	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0010505	HP:0010505	Limitation of movement at ankles	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0010505	HP:0010505	Limitation of movement at ankles	0	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6	HP:0040282 - Frequent	117
HP:0010505	HP:0010505	Limitation of movement at ankles	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional	121
HP:0010505	HP:0010505	Limitation of movement at ankles	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional	278
HP:0010505	HP:0010505	Limitation of movement at ankles	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0010505	HP:0033526	Limited ankle dorsiflexion	1	CL E G H

Genes (8) :FLNA LMNA MAP3K7 MYH7 NIPA1 OCA2 UBE3A ZMPSTE24

Diseases (5) :ORPHA:1826 ORPHA:740 ORPHA:437572 ORPHA:100988 ORPHA:98794

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

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