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)

Parent Node:
Abnormality of coordination (HP:0011443)

..Starting node
..Slurred speech (HP:0001350)

Term ID:

1350

Name:

Slurred speech

Synonym:

Slurred speech

Definition:

Abnormal coordination of muscles involved in speech.

Comments:

Reference:

HP:0001350

Genes and Diseases:

Child Nodes:

........

Slowed slurred speech (HP:0007164)

Sister Nodes:

Ataxia (HP:0001251)

Incoordination (HP:0002311)

Motor impersistence (HP:0040200)

Poor motor coordination (HP:0002275)

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:0001350	HP:0001350	Slurred speech	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.	135
HP:0001350	HP:0001350	Slurred speech	0	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6	.	2
HP:0001350	HP:0001350	Slurred speech	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	64
HP:0001350	HP:0001350	Slurred speech	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0001350	HP:0001350	Slurred speech	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0001350	HP:0001350	Slurred speech	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional	36
HP:0001350	HP:0001350	Slurred speech	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040282 - Frequent	140
HP:0001350	HP:0001350	Slurred speech	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040282 - Frequent	19
HP:0001350	HP:0001350	Slurred speech	0	CA8 CL E G H	767	1382	OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3	.	8
HP:0001350	HP:0001350	Slurred speech	0	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional	1
HP:0001350	HP:0001350	Slurred speech	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent	9
HP:0001350	HP:0001350	Slurred speech	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040284 - Very rare	60
HP:0001350	HP:0001350	Slurred speech	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism		6
HP:0001350	HP:0001350	Slurred speech	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0001350	HP:0001350	Slurred speech	0	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44		122
HP:0001350	HP:0001350	Slurred speech	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040283 - Occasional	160
HP:0001350	HP:0001350	Slurred speech	0	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III	.	120
HP:0001350	HP:0001350	Slurred speech	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040283 - Occasional	434
HP:0001350	HP:0001350	Slurred speech	0	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional	1
HP:0001350	HP:0001350	Slurred speech	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional
HP:0001350	HP:0001350	Slurred speech	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional	2
HP:0001350	HP:0001350	Slurred speech	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome	.	177
HP:0001350	HP:0001350	Slurred speech	0	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1	.	145
HP:0001350	HP:0001350	Slurred speech	0	KCNA1 CL E G H	3736	6218	ORPHA:972	Hereditary continuous muscle fiber activity	HP:0040282 - Frequent	145
HP:0001350	HP:0001350	Slurred speech	0	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040283 - Occasional	35
HP:0001350	HP:0001350	Slurred speech	0	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64
HP:0001350	HP:0001350	Slurred speech	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome		140
HP:0001350	HP:0001350	Slurred speech	0	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional	1
HP:0001350	HP:0001350	Slurred speech	0	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0001350	HP:0001350	Slurred speech	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.	43
HP:0001350	HP:0001350	Slurred speech	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent	43
HP:0001350	HP:0001350	Slurred speech	0	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional	2
HP:0001350	HP:0001350	Slurred speech	0	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0001350	HP:0001350	Slurred speech	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism		6
HP:0001350	HP:0001350	Slurred speech	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0001350	HP:0001350	Slurred speech	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional	69
HP:0001350	HP:0001350	Slurred speech	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69
HP:0001350	HP:0001350	Slurred speech	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0001350	HP:0001350	Slurred speech	0	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6	HP:0040283 - Occasional	63
HP:0001350	HP:0001350	Slurred speech	0	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6	.	63
HP:0001350	HP:0001350	Slurred speech	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent	66
HP:0001350	HP:0001350	Slurred speech	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0001350	HP:0001350	Slurred speech	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7		171
HP:0001350	HP:0001350	Slurred speech	0	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	126
HP:0001350	HP:0001350	Slurred speech	0	SPTBN2 CL E G H	6712	11276	ORPHA:98766	Spinocerebellar ataxia type 5	HP:0040281 - Very frequent	126
HP:0001350	HP:0001350	Slurred speech	0	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism		9
HP:0001350	HP:0001350	Slurred speech	0	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0001350	HP:0001350	Slurred speech	0	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional
HP:0001350	HP:0001350	Slurred speech	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040281 - Very frequent
HP:0001350	HP:0001350	Slurred speech	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0001350	HP:0001350	Slurred speech	0	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional	3
HP:0001350	HP:0007164	Slowed slurred speech	1	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040281 - Very frequent	6
HP:0001350	HP:0007164	Slowed slurred speech	1	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent	140
HP:0001350	HP:0007164	Slowed slurred speech	1	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0001350	HP:0007164	Slowed slurred speech	1	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040281 - Very frequent	6
HP:0001350	HP:0007164	Slowed slurred speech	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent	171
HP:0001350	HP:0007164	Slowed slurred speech	1	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040281 - Very frequent	9

Genes (44) :ABCD1 ACOX2 ANO10 ATM ATP6AP2 ATP6V0A2 ATXN1 CA8 CTSH CWF19L1 DARS2 DNAJC6 EZH2 FASTKD2 GALC GLB1 GRIN2A HCRT HLA-DQB1 HLA-DRB1 ITPR1 KCNA1 KCND3 LINGO1 MAPT MOG MYORG NEU1 P2RY11 PIDD1 PODXL POLG PRNP SETD2 SLC1A3 SPART SPG7 SPTBN2 SYNJ1 TBC1D2B TNFSF4 TRNK VPS13A ZNF365

Diseases (42) :OMIM:300100 OMIM:617308 ORPHA:284289 OMIM:208900 OMIM:300423 ORPHA:93952 ORPHA:2834 ORPHA:98755 OMIM:613227 ORPHA:2073 ORPHA:453521 ORPHA:137898 ORPHA:391411 OMIM:277590 OMIM:618855 ORPHA:206443 OMIM:230650 ORPHA:98818 OMIM:206700 OMIM:160120 ORPHA:972 ORPHA:98772 OMIM:618103 ORPHA:240071 OMIM:618317 OMIM:256550 ORPHA:812 OMIM:619827 OMIM:157640 ORPHA:157941 ORPHA:282166 OMIM:616831 ORPHA:209967 OMIM:612656 ORPHA:101000 OMIM:607259 ORPHA:99013 ORPHA:352403 ORPHA:98766 OMIM:619323 ORPHA:1349 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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