Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- Quick-Mitome
- Quick-Mitome-Report
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome
- Disease Portal
- HPO Ontology Browser
- Core Symptoms (draft)
- NAMDC-HPO Mapping (retired)
- Expert Panel
- Clinical
- Overview
- Leigh Syndrome Resource
Collaboration
Submission

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:
Abnormality of higher mental function (HP:0011446)

Parent Node:
Neurological speech impairment (HP:0002167)

..Starting node
..Scanning speech (HP:0002168)

Term ID:

2168

Name:

Scanning speech

Synonym:

Explosive speech

Definition:

An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.

Comments:

Reference:

HP:0002168

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent speech (HP:0001344)

Alexia (HP:0010523)

Anarthria (HP:0002425)

Anomic aphasia (HP:0030784)

Aphasia (HP:0002381)

Deficit in nonword repetition (HP:0002526)

Dysarthria (HP:0001260)

Dysgraphia (HP:0010526)

Dysphasia (HP:0002357)

Dysphonia (HP:0001618)

Echolalia (HP:0010529)

Grammar-specific speech disorder (HP:0006977)

Incomprehensible speech (HP:0002546)

Loss of speech (HP:0002371)

Mutism (HP:0002300)

Palilalia (HP:0031814)

Poor speech (HP:0002465)

Stuttering (HP:0025268)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002168	HP:0002168	Scanning speech	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	86	10548	601556
HP:0002168	HP:0002168	Scanning speech	0	ATXN10 CL E G H	25814	98761				ORPHA	1	108	10549	611150
HP:0002168	HP:0002168	Scanning speech	0	ATXN10 CL E G H	25814	603516	Spinocerebellar ataxia 10	603516	C1963674	OMIM	1	108	10549	611150
HP:0002168	HP:0002168	Scanning speech	0	CCDC88C CL E G H	440193	423275				ORPHA	1	279	19967	611204
HP:0002168	HP:0002168	Scanning speech	0	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	205	25223	609825
HP:0002168	HP:0002168	Scanning speech	0	DAB1 CL E G H	1600	363710				ORPHA	1	82	2661	603448
HP:0002168	HP:0002168	Scanning speech	0	ITPR1 CL E G H	3708	1065	Camptodactyly joint contractures and facial skeletal dysplasia			ORPHA	1	1134	6180	147265
HP:0002168	HP:0002168	Scanning speech	0	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	1134	6180	147265
HP:0002168	HP:0002168	Scanning speech	0	PAX6 CL E G H	5080	1065	Camptodactyly joint contractures and facial skeletal dysplasia			ORPHA	1	688	8620	607108
HP:0002168	HP:0002168	Scanning speech	0	PLP1 CL E G H	5354	312080	Pelizaeus-Merzbacher disease	312080	C0205711	OMIM	1	391	9086	300401
HP:0002168	HP:0002168	Scanning speech	0	PNPLA6 CL E G H	10908	215470	Boucher Neuhauser syndrome	215470	C1859093	OMIM	1	943	16268	603197
HP:0002168	HP:0002168	Scanning speech	0	SACS CL E G H	26278	270550	Spastic ataxia Charlevoix-Saguenay type	270550	C1849140	OMIM	1	2506	10519	604490
HP:0002168	HP:0002168	Scanning speech	0	TMEM240 CL E G H	339453	607454	Spinocerebellar ataxia 21	607454	C1843891	OMIM	1	192	25186	616101
HP:0002168	HP:0002168	Scanning speech	0	TPP1 CL E G H	1200	284324				ORPHA	1	849	2073	607998
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (12) :ATXN1 ATXN10 CCDC88C COQ2 DAB1 ITPR1 PAX6 PLP1 PNPLA6 SACS TMEM240 TPP1

Diseases (13) :164400 98761 603516 423275 607426 363710 1065 606658 312080 215470 270550 607454 284324

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

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