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:
Tremor (HP:0001337)

Parent Node:
Action tremor (HP:0002345)

..Starting node
..Titubation (HP:0030187)

Term ID:

30187

Name:

Titubation

Synonym:

Definition:

Nodding movement of the head or body.

Comments:

Reference:

HP:0030187

Genes and Diseases:

Child Nodes:

........

Head titubation (HP:0002599)

........

Truncal titubation (HP:0030147)

Sister Nodes:

Isometric tremor (HP:0030185)

Kinetic tremor (HP:0030186)

Postural tremor (HP:0002174)

Vocal tremor (HP:0012477)

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:0030187	HP:0030187	Titubation	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0030187	HP:0030187	Titubation	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0030187	HP:0030187	Titubation	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0030187	HP:0030187	Titubation	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		114
HP:0030187	HP:0030187	Titubation	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures		20
HP:0030187	HP:0030187	Titubation	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0030187	HP:0030187	Titubation	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome		111
HP:0030187	HP:0030187	Titubation	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		105
HP:0030187	HP:0030187	Titubation	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0030187	HP:0030187	Titubation	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency		32
HP:0030187	HP:0030187	Titubation	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0030187	HP:0030187	Titubation	0	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18	HP:0040283 - Occasional	1
HP:0030187	HP:0030187	Titubation	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0030187	HP:0030187	Titubation	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040282 - Frequent	17
HP:0030187	HP:0030187	Titubation	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040282 - Frequent	38
HP:0030187	HP:0030187	Titubation	0	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive		38
HP:0030187	HP:0030187	Titubation	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome		35
HP:0030187	HP:0030187	Titubation	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0030187	HP:0030187	Titubation	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75	HP:0040283 - Occasional	4
HP:0030187	HP:0030187	Titubation	0	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy		2
HP:0030187	HP:0030187	Titubation	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy		2
HP:0030187	HP:0030187	Titubation	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0030187	HP:0030187	Titubation	0	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0030187	HP:0030187	Titubation	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0030187	HP:0030187	Titubation	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040282 - Frequent	60
HP:0030187	HP:0030187	Titubation	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040282 - Frequent	60
HP:0030187	HP:0030187	Titubation	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		6
HP:0030187	HP:0030187	Titubation	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0030187	HP:0030187	Titubation	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		287
HP:0030187	HP:0030187	Titubation	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0030187	HP:0030187	Titubation	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		54
HP:0030187	HP:0030187	Titubation	0	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0030187	HP:0030187	Titubation	0	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0030187	HP:0030187	Titubation	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0030187	HP:0030187	Titubation	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0030187	HP:0002599	Head titubation	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0030187	HP:0030147	Truncal titubation	1	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0030187	HP:0002599	Head titubation	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0030187	HP:0002599	Head titubation	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	114
HP:0030187	HP:0030147	Truncal titubation	1	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.	20
HP:0030187	HP:0002599	Head titubation	1	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0030187	HP:0030147	Truncal titubation	1	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040283 - Occasional	111
HP:0030187	HP:0002599	Head titubation	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	105
HP:0030187	HP:0002599	Head titubation	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0030187	HP:0002599	Head titubation	1	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040284 - Very rare	32
HP:0030187	HP:0030147	Truncal titubation	1	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0030187	HP:0030147	Truncal titubation	1	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0030187	HP:0002599	Head titubation	1	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive	.	38
HP:0030187	HP:0002599	Head titubation	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040283 - Occasional	35
HP:0030187	HP:0002599	Head titubation	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0030187	HP:0002599	Head titubation	1	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent	2
HP:0030187	HP:0002599	Head titubation	1	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.	2
HP:0030187	HP:0002599	Head titubation	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0030187	HP:0002599	Head titubation	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0030187	HP:0002599	Head titubation	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	6
HP:0030187	HP:0030147	Truncal titubation	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0030187	HP:0002599	Head titubation	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	287
HP:0030187	HP:0002599	Head titubation	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0030187	HP:0002599	Head titubation	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	54
HP:0030187	HP:0030147	Truncal titubation	1	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0030187	HP:0002599	Head titubation	1	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0030187	HP:0002599	Head titubation	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0030187	HP:0002599	Head titubation	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130

Genes (30) :AARS1 ACBD5 ALS2 BRAT1 EIF2AK2 FLVCR1 FUS GJC2 HIBCH HYCC1 IFRD1 ITPR1 KCNC3 KIF1C LAMA1 LMNB1 MAG NKX6-2 PI4KA PITRM1 PLP1 SIGMAR1 SLC19A3 SPG11 SPTBN1 SPTLC1 THG1L TMEM63A UCHL1 VPS13A

Diseases (31) :OMIM:619691 OMIM:618863 OMIM:205100 ORPHA:300605 OMIM:618056 OMIM:618877 ORPHA:88628 OMIM:608804 ORPHA:88639 OMIM:610532 ORPHA:98771 OMIM:117360 ORPHA:98768 ORPHA:397946 OMIM:611302 ORPHA:370022 ORPHA:99027 ORPHA:459056 ORPHA:527497 OMIM:617560 OMIM:619708 OMIM:619405 OMIM:312080 ORPHA:280219 ORPHA:280210 OMIM:607483 OMIM:619475 OMIM:618800 OMIM:618688 OMIM:615491 ORPHA:2388

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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