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:
Edema (HP:0000969)

Parent Node:
Lymphedema (HP:0001004)

..Starting node
..Predominantly lower limb lymphedema (HP:0003550)

Term ID:

3550

Name:

Predominantly lower limb lymphedema

Synonym:

Definition:

Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.

Comments:

Reference:

HP:0003550

Genes and Diseases:

Child Nodes:

Sister Nodes:

Intestinal lymphedema (HP:0004788)

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:0003550	HP:0003550	Predominantly lower limb lymphedema	0	CELSR1 CL E G H	9620	1850	OMIM:619319	LYMPHATIC MALFORMATION 9; LMPHM9		13
HP:0003550	HP:0003550	Predominantly lower limb lymphedema	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional	145
HP:0003550	HP:0003550	Predominantly lower limb lymphedema	0	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040282 - Frequent	3
HP:0003550	HP:0003550	Predominantly lower limb lymphedema	0	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0003550	HP:0003550	Predominantly lower limb lymphedema	0	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease	HP:0040282 - Frequent	90
HP:0003550	HP:0003550	Predominantly lower limb lymphedema	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	.	20
HP:0003550	HP:0003550	Predominantly lower limb lymphedema	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040281 - Very frequent	20
HP:0003550	HP:0003550	Predominantly lower limb lymphedema	0	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease	HP:0040282 - Frequent	37
HP:0003550	HP:0003550	Predominantly lower limb lymphedema	0	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.	7
HP:0003550	HP:0003550	Predominantly lower limb lymphedema	0	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040281 - Very frequent	7

Genes (7) :CELSR1 DNMT1 EPHB4 FLT4 FOXC2 GJC2 SOX18

Diseases (9) :OMIM:619319 ORPHA:314404 ORPHA:90186 OMIM:153100 ORPHA:79452 OMIM:153400 ORPHA:33001 OMIM:607823 ORPHA:69735

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