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:
Abnormal central motor function (HP:0011442)

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

Grandparent Node:
Craniofacial dystonia (HP:0012179)

Parent Node:
Torticollis (HP:0000473)

..Starting node
..Retrocollis (HP:0002544)

Term ID:

2544

Name:

Retrocollis

Synonym:

Definition:

A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.

Comments:

Reference:

HP:0002544

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0002544	HP:0002544	Retrocollis	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0002544	HP:0002544	Retrocollis	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	114
HP:0002544	HP:0002544	Retrocollis	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	105
HP:0002544	HP:0002544	Retrocollis	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	.	11
HP:0002544	HP:0002544	Retrocollis	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.	140
HP:0002544	HP:0002544	Retrocollis	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.	37
HP:0002544	HP:0002544	Retrocollis	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	6
HP:0002544	HP:0002544	Retrocollis	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	287
HP:0002544	HP:0002544	Retrocollis	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	54

Genes (8) :ALS2 FUS KMT2B MAPT PRKRA SIGMAR1 SPG11 SPTLC1

Diseases (5) :OMIM:205100 ORPHA:300605 OMIM:617284 OMIM:601104 OMIM:612067

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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