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:
Abnormal shoulder morphology (HP:0003043)

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

..Starting node
..Limited shoulder movement (HP:0006467)

Term ID:

6467

Name:

Limited shoulder movement

Synonym:

Limited shoulder movement

Definition:

A limitation of the range of movement of the shoulder joint.

Comments:

Reference:

HP:0006467

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)

Limitation of movement at ankles (HP:0010505)

Limited elbow movement (HP:0002996)

Limited hip movement (HP:0008800)

Limited interphalangeal movement (HP:0006064)

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:0006467	HP:0006467	Limited shoulder movement	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0006467	HP:0006467	Limited shoulder movement	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D		37
HP:0006467	HP:0006467	Limited shoulder movement	0	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS		1361
HP:0006467	HP:0006467	Limited shoulder movement	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040282 - Frequent	173
HP:0006467	HP:0006467	Limited shoulder movement	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0006467	HP:0006467	Limited shoulder movement	0	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria		77
HP:0006467	HP:0006467	Limited shoulder movement	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0006467	HP:0006467	Limited shoulder movement	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0006467	HP:0006467	Limited shoulder movement	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0006467	HP:0006467	Limited shoulder movement	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0006467	HP:0006467	Limited shoulder movement	0	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3	HP:0040282 - Frequent	132
HP:0006467	HP:0006467	Limited shoulder movement	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional	46
HP:0006467	HP:0006467	Limited shoulder movement	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0006467	HP:0006467	Limited shoulder movement	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0006467	HP:0033475	Limited shoulder abduction	1	CL E G H
HP:0006467	HP:0033482	Limited shoulder flexion	1	CL E G H

Genes (14) :COMP ECEL1 FBN1 GNE GNPTAB HGD LMNA MYH7 PKDCC RECQL4 SGCA TRAPPC2 ZC4H2 ZMPSTE24

Diseases (13) :OMIM:177170 OMIM:615065 OMIM:184900 ORPHA:602 ORPHA:576 OMIM:203500 ORPHA:740 ORPHA:437572 OMIM:618821 OMIM:218600 ORPHA:62 ORPHA:93284 OMIM:301041

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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