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:
Abnormality of the elbow (HP:0009811)

Grandparent Node:
Limitation of joint mobility (HP:0001376)

Parent Node:
Limited elbow movement (HP:0002996)

..Starting node
..Limited elbow flexion (HP:0006376)

Term ID:

6376

Name:

Limited elbow flexion

Synonym:

Definition:

Comments:

Reference:

HP:0006376

Genes and Diseases:

Child Nodes:

........

Limited elbow flexion/extension (HP:0005060)

........

Fixed elbow flexion (HP:0006471)

Sister Nodes:

Elbow flexion contracture (HP:0002987)

Limited elbow extension (HP:0001377)

Limited pronation/supination of forearm (HP:0006394)

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:0006376	HP:0006376	Limited elbow flexion	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0006376	HP:0006376	Limited elbow flexion	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0006376	HP:0006376	Limited elbow flexion	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0006376	HP:0006376	Limited elbow flexion	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0006376	HP:0006376	Limited elbow flexion	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0006376	HP:0006376	Limited elbow flexion	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		165
HP:0006376	HP:0006376	Limited elbow flexion	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040282 - Frequent	75
HP:0006376	HP:0006376	Limited elbow flexion	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040281 - Very frequent	58
HP:0006376	HP:0006376	Limited elbow flexion	0	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4	.	166
HP:0006376	HP:0006376	Limited elbow flexion	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		237
HP:0006376	HP:0006471	Fixed elbow flexion	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0006376	HP:0006471	Fixed elbow flexion	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0006376	HP:0005060	Limited elbow flexion/extension	1	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0006376	HP:0005060	Limited elbow flexion/extension	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0006376	HP:0005060	Limited elbow flexion/extension	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040283 - Occasional	4
HP:0006376	HP:0006471	Fixed elbow flexion	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent	165
HP:0006376	HP:0006471	Fixed elbow flexion	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent	237

Genes (10) :ASXL1 CHST3 FZD2 GPC6 KCNK9 LMX1B MYOT PTH1R SLC26A2 STXBP1

Diseases (9) :ORPHA:97297 OMIM:143095 OMIM:164745 OMIM:258315 ORPHA:166108 ORPHA:495818 ORPHA:266 ORPHA:79106 OMIM:226900

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