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:
Neurological speech impairment (HP:0002167)

Parent Node:
Dysarthria (HP:0001260)

..Starting node
..Nasal, dysarthic speech (HP:0008376)

Term ID:

8376

Name:

Nasal, dysarthic speech

Synonym:

Breathy speech

Definition:

Comments:

Reference:

HP:0008376

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pseudobulbar paralysis (HP:0007024)

Spastic dysarthria (HP:0002464)

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:0008376	HP:0008376	Nasal, dysarthic speech	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040281 - Very frequent
HP:0008376	HP:0008376	Nasal, dysarthic speech	0	GRHL3 CL E G H	57822	25839	ORPHA:99771	Bifid uvula	HP:0040282 - Frequent	12
HP:0008376	HP:0008376	Nasal, dysarthic speech	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040281 - Very frequent
HP:0008376	HP:0008376	Nasal, dysarthic speech	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040280 - Obligate
HP:0008376	HP:0008376	Nasal, dysarthic speech	0	UBB CL E G H	7314	12463	ORPHA:99771	Bifid uvula	HP:0040282 - Frequent

Genes (5) :GIPC1 GRHL3 NOTCH2NLC SELENOI UBB

Diseases (3) :ORPHA:98897 ORPHA:99771 ORPHA:506353

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