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 the voice (HP:0001608)

Parent Node:
Abnormal speech prosody (HP:0031434)

..Starting node
..Monotonic speech (HP:0031435)

Term ID:

31435

Name:

Monotonic speech

Synonym:

Definition:

A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice.

Comments:

Reference:

HP:0031435

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased pitch variability of speech (HP:0031436)

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:0031435	HP:0031435	Monotonic speech	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent	9
HP:0031435	HP:0031435	Monotonic speech	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0031435	HP:0031435	Monotonic speech	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0031435	HP:0031435	Monotonic speech	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset		36
HP:0031435	HP:0031435	Monotonic speech	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	36
HP:0031435	HP:0031435	Monotonic speech	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0031435	HP:0031435	Monotonic speech	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0031435	HP:0031435	Monotonic speech	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0031435	HP:0031435	Monotonic speech	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0031435	HP:0031435	Monotonic speech	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	65
HP:0031435	HP:0031435	Monotonic speech	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	37

Genes (9) :CWF19L1 DNAJC13 EIF4G1 FBXO7 GBA1 GIGYF2 LRRK2 SNCA VPS35

Diseases (4) :ORPHA:453521 ORPHA:411602 OMIM:260300 ORPHA:171695

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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