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:
Abnormality of coordination (HP:0011443)

Parent Node:
Slurred speech (HP:0001350)

..Starting node
..Slowed slurred speech (HP:0007164)

Term ID:

7164

Name:

Slowed slurred speech

Synonym:

Slowed slurred speech

Definition:

Comments:

Reference:

HP:0007164

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:0007164	HP:0007164	Slowed slurred speech	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040281 - Very frequent	6
HP:0007164	HP:0007164	Slowed slurred speech	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent	140
HP:0007164	HP:0007164	Slowed 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:0007164	HP:0007164	Slowed slurred speech	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040281 - Very frequent	6
HP:0007164	HP:0007164	Slowed slurred speech	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent	171
HP:0007164	HP:0007164	Slowed slurred speech	0	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040281 - Very frequent	9

Genes (6) :DNAJC6 MAPT PIDD1 PODXL SPG7 SYNJ1

Diseases (4) :ORPHA:391411 ORPHA:240071 OMIM:619827 ORPHA:99013

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