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:
Limb joint contracture (HP:0003121)

Parent Node:
Abnormal shoulder morphology (HP:0003043)

Parent Node:
Upper-limb joint contracture (HP:0100360)

..Starting node
..Shoulder flexion contracture (HP:0003044)

Term ID:

3044

Name:

Shoulder flexion contracture

Synonym:

Definition:

Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.

Comments:

Reference:

HP:0003044

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elbow flexion contracture (HP:0002987)

Joint contracture of the hand (HP:0009473)

Wrist flexion contracture (HP:0001239)

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:0003044	HP:0003044	Shoulder flexion contracture	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0003044	HP:0003044	Shoulder flexion contracture	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent	345
HP:0003044	HP:0003044	Shoulder flexion contracture	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0003044	HP:0003044	Shoulder flexion contracture	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0003044	HP:0003044	Shoulder flexion contracture	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0003044	HP:0003044	Shoulder flexion contracture	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0003044	HP:0003044	Shoulder flexion contracture	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003044	HP:0003044	Shoulder flexion contracture	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0003044	HP:0003044	Shoulder flexion contracture	0	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy	HP:0040282 - Frequent	37
HP:0003044	HP:0003044	Shoulder flexion contracture	0	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37

Genes (8) :COL12A1 HSPG2 JAG2 KY MYH3 MYL11 RNU4ATAC TNNT1

Diseases (10) :ORPHA:536516 ORPHA:800 OMIM:255800 OMIM:619566 OMIM:617114 OMIM:193700 OMIM:619110 OMIM:210710 ORPHA:98902 OMIM:605355

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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