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	DiseaseId	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0008376	HP:0008376	Nasal, dysarthic speech	0	GRHL3 CL E G H	57822	99771	ORPHA	1	138	25839	608317
HP:0008376	HP:0008376	Nasal, dysarthic speech	0	UBB CL E G H	7314	99771	ORPHA	1	49	12463	191339
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (2) :GRHL3 UBB

Diseases (1) :99771

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.