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:
Inflammatory abnormality of the skin (HP:0011123)

Parent Node:
Skin rash (HP:0000988)

..Starting node
..Malar rash (HP:0025300)

Term ID:

25300

Name:

Malar rash

Synonym:

Butterfly rash; Cheekbone rash

Definition:

An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.

Comments:

Reference:

HP:0025300

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bull's eye rash (HP:0040325)

Discoid lupus rash (HP:0007417)

Heliotrope rash (HP:0040324)

Maculopapular exanthema (HP:0040186)

Morbilliform rash (HP:0012282)

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:0025300	HP:0025300	Malar rash	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0025300	HP:0025300	Malar rash	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0025300	HP:0025300	Malar rash	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0025300	HP:0025300	Malar rash	0	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus	.	10
HP:0025300	HP:0025300	Malar rash	0	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus	.	3
HP:0025300	HP:0025300	Malar rash	0	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus	.	6
HP:0025300	HP:0025300	Malar rash	0	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus	.	2
HP:0025300	HP:0025300	Malar rash	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0025300	HP:0025300	Malar rash	0	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus	.	3
HP:0025300	HP:0025300	Malar rash	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0025300	HP:0025300	Malar rash	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional	2
HP:0025300	HP:0025300	Malar rash	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0025300	HP:0025300	Malar rash	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0025300	HP:0025300	Malar rash	0	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus	.	56

Genes (14) :BLM CASP10 CDK10 CTLA4 DNASE1 FCGR2A FCGR2B IRAK1 PTPN22 SPP1 STAT4 STING1 TLR7 TREX1

Diseases (7) :OMIM:210900 OMIM:603909 OMIM:617694 OMIM:152700 ORPHA:93552 OMIM:615934 OMIM:301080

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