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 hand wringing (HP:0012171)

Term ID:

12171

Name:

Stereotypical hand wringing

Synonym:

Definition:

Habitual clasping and squeezing of the hands.

Comments:

Reference:

HP:0012171

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 body rocking (HP:0012172)

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:0012171	HP:0012171	Stereotypical hand wringing	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent	405
HP:0012171	HP:0012171	Stereotypical hand wringing	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent	405
HP:0012171	HP:0012171	Stereotypical hand wringing	0	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0012171	HP:0012171	Stereotypical hand wringing	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0012171	HP:0012171	Stereotypical hand wringing	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0012171	HP:0012171	Stereotypical hand wringing	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0012171	HP:0012171	Stereotypical hand wringing	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent	5
HP:0012171	HP:0012171	Stereotypical hand wringing	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0012171	HP:0012171	Stereotypical hand wringing	0	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB		1
HP:0012171	HP:0012171	Stereotypical hand wringing	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040283 - Occasional	434
HP:0012171	HP:0012171	Stereotypical hand wringing	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012171	HP:0012171	Stereotypical hand wringing	0	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	HP:0040282 - Frequent	119
HP:0012171	HP:0012171	Stereotypical hand wringing	0	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26		65
HP:0012171	HP:0012171	Stereotypical hand wringing	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040283 - Occasional	16
HP:0012171	HP:0012171	Stereotypical hand wringing	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0012171	HP:0012171	Stereotypical hand wringing	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent	950
HP:0012171	HP:0012171	Stereotypical hand wringing	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040281 - Very frequent	950
HP:0012171	HP:0012171	Stereotypical hand wringing	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome		950
HP:0012171	HP:0012171	Stereotypical hand wringing	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0012171	HP:0012171	Stereotypical hand wringing	0	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	HP:0040281 - Very frequent	1
HP:0012171	HP:0012171	Stereotypical hand wringing	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0012171	HP:0012171	Stereotypical hand wringing	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent	1
HP:0012171	HP:0012171	Stereotypical hand wringing	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0012171	HP:0012171	Stereotypical hand wringing	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent	135
HP:0012171	HP:0012171	Stereotypical hand wringing	0	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0012171	HP:0012171	Stereotypical hand wringing	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22		16

Genes (22) :CDKL5 CELF2 CNTNAP2 DYRK1A GABBR2 GNAI1 GRIA2 GRIN2A H4C5 IQSEC2 KCNB1 LARP7 LMNB1 MECP2 MGAT2 NACC1 NEXMIF NTNG1 SATB1 SMC1A VAMP2 ZBTB18

Diseases (22) :ORPHA:3095 ORPHA:505652 OMIM:619561 ORPHA:163681 ORPHA:268261 OMIM:614104 OMIM:619854 OMIM:618917 ORPHA:289266 OMIM:619950 ORPHA:397933 OMIM:616056 ORPHA:319671 OMIM:619179 ORPHA:778 OMIM:312750 ORPHA:79329 ORPHA:500545 OMIM:300912 OMIM:619229 OMIM:618760 OMIM:612337

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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