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 the musculature (HP:0003011)

Grandparent Node:
Abnormality of the neck (HP:0000464)

Parent Node:
Abnormal morphology of the musculature of the neck (HP:0011006)

..Starting node
..Congenital muscular torticollis (HP:0005988)

Term ID:

5988

Name:

Congenital muscular torticollis

Synonym:

Torticollis, congenital

Definition:

A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending.

Comments:

Reference:

HP:0005988

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal geniohyoid muscle morphology (HP:3000046)

Abnormal platysma muscle morphology (HP:3000013)

Neck muscle hypertrophy (HP:0012893)

Neck muscle weakness (HP:0000467)

Torticollis (HP:0000473)

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:0005988	HP:0005988	Congenital muscular torticollis	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0005988	HP:0005988	Congenital muscular torticollis	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.	442
HP:0005988	HP:0005988	Congenital muscular torticollis	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.	478
HP:0005988	HP:0005988	Congenital muscular torticollis	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.	702
HP:0005988	HP:0005988	Congenital muscular torticollis	0	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040282 - Frequent	7
HP:0005988	HP:0005988	Congenital muscular torticollis	0	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040282 - Frequent	64
HP:0005988	HP:0005988	Congenital muscular torticollis	0	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0005988	HP:0005988	Congenital muscular torticollis	0	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040282 - Frequent	5
HP:0005988	HP:0005988	Congenital muscular torticollis	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0005988	HP:0005988	Congenital muscular torticollis	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.	10
HP:0005988	HP:0005988	Congenital muscular torticollis	0	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5		108

Genes (9) :COL12A1 COL6A1 COL6A2 COL6A3 GDF3 GDF6 MEOX1 PPP2R5D SYNGAP1

Diseases (7) :ORPHA:536516 OMIM:158810 ORPHA:2345 OMIM:118100 ORPHA:457279 OMIM:616355 OMIM:612621

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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