Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Phenotypic abnormality (HP:0000118)

Parent Node:
Abnormality of the voice (HP:0001608)

..Starting node
..Abnormally low-pitched voice (HP:0010300)

Term ID:

10300

Name:

Abnormally low-pitched voice

Synonym:

Definition:

An abnormally low-pitched voice.

Comments:

Reference:

HP:0010300

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal cry (HP:0025429)

Abnormal speech prosody (HP:0031434)

Dysphonia (HP:0001618)

High pitched voice (HP:0001620)

Hoarse voice (HP:0001609)

Hyponasal speech (HP:0100271)

Loss of voice (HP:0001686)

Nasal speech (HP:0001611)

Speech articulation difficulties (HP:0009088)

Vocal cord dysfunction (HP:0031801)

Weak voice (HP:0001621)

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:0010300	HP:0010300	Abnormally low-pitched voice	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0010300	HP:0010300	Abnormally low-pitched voice	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	4
HP:0010300	HP:0010300	Abnormally low-pitched voice	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0010300	HP:0010300	Abnormally low-pitched voice	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	81
HP:0010300	HP:0010300	Abnormally low-pitched voice	0	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040283 - Occasional	434
HP:0010300	HP:0010300	Abnormally low-pitched voice	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	37
HP:0010300	HP:0010300	Abnormally low-pitched voice	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	494
HP:0010300	HP:0010300	Abnormally low-pitched voice	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	544
HP:0010300	HP:0010300	Abnormally low-pitched voice	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	25
HP:0010300	HP:0010300	Abnormally low-pitched voice	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	135
HP:0010300	HP:0010300	Abnormally low-pitched voice	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	91
HP:0010300	HP:0010300	Abnormally low-pitched voice	0	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040283 - Occasional	50
HP:0010300	HP:0010300	Abnormally low-pitched voice	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	1
HP:0010300	HP:0010300	Abnormally low-pitched voice	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171

Genes (13) :BRD4 EED EZH2 GRIN2A HDAC8 NIPBL NSD1 RAD21 SMC1A SMC3 SRPX2 SUZ12 TRPS1

Diseases (5) :ORPHA:199 ORPHA:3447 OMIM:277590 ORPHA:163721 OMIM:190350

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen