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:
Involuntary movements (HP:0004305)

Parent Node:
Motor stereotypy (HP:0000733)

..Starting node
..Stereotypical body rocking (HP:0012172)

Term ID:

12172

Name:

Stereotypical body rocking

Synonym:

Definition:

Habitual repetitive movement of the body.

Comments:

Reference:

HP:0012172

Genes and Diseases:

Child Nodes:

Sister Nodes:

Eye poking (HP:0001483)

Punding (HP:0030218)

Recurrent hand flapping (HP:0100023)

Repetitive compulsive behavior (HP:0008762)

Stereotypical hand wringing (HP:0012171)

Tongue thrusting (HP:0100703)

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:0012172	HP:0012172	Stereotypical body rocking	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040283 - Occasional	59
HP:0012172	HP:0012172	Stereotypical body rocking	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe		59
HP:0012172	HP:0012172	Stereotypical body rocking	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040284 - Very rare	38
HP:0012172	HP:0012172	Stereotypical body rocking	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012172	HP:0012172	Stereotypical body rocking	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0012172	HP:0012172	Stereotypical body rocking	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0012172	HP:0012172	Stereotypical body rocking	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional	8

Genes (6) :AFF2 DPAGT1 GNB2 KIF15 NEXMIF WDR26

Diseases (7) :ORPHA:100973 OMIM:309548 ORPHA:86309 OMIM:619503 ORPHA:261323 OMIM:300912 ORPHA:513456

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