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 temperature regulation (HP:0004370)

Parent Node:
Fever (HP:0001945)

..Starting node
..Unexplained fevers (HP:0001955)

Term ID:

1955

Name:

Unexplained fevers

Synonym:

Unexplained fevers

Definition:

Episodes of fever for which no infectious cause can be identified.

Comments:

Reference:

HP:0001955

Genes and Diseases:

Child Nodes:

Sister Nodes:

Low-grade fever (HP:0011134)

Recurrent fever (HP:0001954)

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:0001955	HP:0001955	Unexplained fevers	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	116
HP:0001955	HP:0001955	Unexplained fevers	0	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2	.	75
HP:0001955	HP:0001955	Unexplained fevers	0	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.	67
HP:0001955	HP:0001955	Unexplained fevers	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent	160
HP:0001955	HP:0001955	Unexplained fevers	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	28
HP:0001955	HP:0001955	Unexplained fevers	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0001955	HP:0001955	Unexplained fevers	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0001955	HP:0001955	Unexplained fevers	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0001955	HP:0001955	Unexplained fevers	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0001955	HP:0001955	Unexplained fevers	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare	51
HP:0001955	HP:0001955	Unexplained fevers	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional	97
HP:0001955	HP:0001955	Unexplained fevers	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent	81
HP:0001955	HP:0001955	Unexplained fevers	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	33
HP:0001955	HP:0001955	Unexplained fevers	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	34
HP:0001955	HP:0001955	Unexplained fevers	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	60
HP:0001955	HP:0001955	Unexplained fevers	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0001955	HP:0001955	Unexplained fevers	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	55
HP:0001955	HP:0001955	Unexplained fevers	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	HP:0040283 - Occasional	24
HP:0001955	HP:0001955	Unexplained fevers	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	56

Genes (19) :ADAR AQP2 AVPR2 GALC IFIH1 LAMA3 LAMB3 LAMC2 LSM11 NKX2-1 NTRK1 PSAP RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 TMEM165 TREX1

Diseases (8) :ORPHA:51 OMIM:125800 OMIM:304800 ORPHA:206436 ORPHA:79404 ORPHA:209905 ORPHA:642 OMIM:614727

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