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:
Abnormal nervous system physiology (HP:0012638)

Parent Node:
Abnormality of movement (HP:0100022)

..Starting node
..Stooped posture (HP:0025403)

Term ID:

25403

Name:

Stooped posture

Synonym:

Definition:

A habitual positioning of the body with the head and upper back bent forward.

Comments:

Reference:

HP:0025403

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal head movements (HP:0002457)

Abnormal posturing (HP:0002533)

Abnormal reflex (HP:0031826)

Astasia (HP:0020037)

Asterixis (HP:0012164)

Bimanual synkinesia (HP:0001335)

Cerebral palsy (HP:0100021)

Diminished movement (HP:0002374)

Dyskinesia (HP:0100660)

Dystonia (HP:0001332)

Frontal release signs (HP:0000743)

Gait disturbance (HP:0001288)

Hyperactivity (HP:0000752)

Hyperkinetic movements (HP:0002487)

Involuntary movements (HP:0004305)

Muscle fibrillation (HP:0010546)

Myokymia (HP:0002411)

Postural instability (HP:0002172)

Primitive reflex (HP:0002476)

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:0025403	HP:0025403	Stooped posture	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional	100
HP:0025403	HP:0025403	Stooped posture	0	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0025403	HP:0025403	Stooped posture	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040283 - Occasional	950
HP:0025403	HP:0025403	Stooped posture	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0025403	HP:0025403	Stooped posture	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2	.	2
HP:0025403	HP:0025403	Stooped posture	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	103
HP:0025403	HP:0025403	Stooped posture	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0025403	HP:0025403	Stooped posture	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3		2

Genes (8) :ATP13A2 COL12A1 MECP2 POLG SLC18A2 TK2 TMEM106B WARS2

Diseases (7) :ORPHA:306674 OMIM:616471 ORPHA:3077 ORPHA:254886 OMIM:618049 OMIM:617964 OMIM:619738

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