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
..Recurrent fever (HP:0001954)

Term ID:

1954

Name:

Recurrent fever

Synonym:

Episodic fever; Hyperthermia, episodic; Increased body temperature, episodic; Intermittent fever

Definition:

Periodic (episodic or recurrent) bouts of fever.

Comments:

Reference:

HP:0001954

Genes and Diseases:

Child Nodes:

Sister Nodes:

Low-grade fever (HP:0011134)

Unexplained fevers (HP:0001955)

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:0001954	HP:0001954	Recurrent fever	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0001954	HP:0001954	Recurrent fever	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0001954	HP:0001954	Recurrent fever	0	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss
HP:0001954	HP:0001954	Recurrent fever	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional	78
HP:0001954	HP:0001954	Recurrent fever	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0001954	HP:0001954	Recurrent fever	0	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040282 - Frequent	8
HP:0001954	HP:0001954	Recurrent fever	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001954	HP:0001954	Recurrent fever	0	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive		92
HP:0001954	HP:0001954	Recurrent fever	0	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0001954	HP:0001954	Recurrent fever	0	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain	.	3
HP:0001954	HP:0001954	Recurrent fever	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040282 - Frequent	71
HP:0001954	HP:0001954	Recurrent fever	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0001954	HP:0001954	Recurrent fever	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.	24
HP:0001954	HP:0001954	Recurrent fever	0	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency	.	73
HP:0001954	HP:0001954	Recurrent fever	0	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	.	86
HP:0001954	HP:0001954	Recurrent fever	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001954	HP:0001954	Recurrent fever	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0001954	HP:0001954	Recurrent fever	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0001954	HP:0001954	Recurrent fever	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040282 - Frequent	79
HP:0001954	HP:0001954	Recurrent fever	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0001954	HP:0001954	Recurrent fever	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0001954	HP:0001954	Recurrent fever	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001954	HP:0001954	Recurrent fever	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.	160
HP:0001954	HP:0001954	Recurrent fever	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.	86
HP:0001954	HP:0001954	Recurrent fever	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0001954	HP:0001954	Recurrent fever	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional	580
HP:0001954	HP:0001954	Recurrent fever	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional	580
HP:0001954	HP:0001954	Recurrent fever	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0001954	HP:0001954	Recurrent fever	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0001954	HP:0001954	Recurrent fever	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0001954	HP:0001954	Recurrent fever	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.	16
HP:0001954	HP:0001954	Recurrent fever	0	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0001954	HP:0001954	Recurrent fever	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040281 - Very frequent	48
HP:0001954	HP:0001954	Recurrent fever	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0001954	HP:0001954	Recurrent fever	0	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR		1
HP:0001954	HP:0001954	Recurrent fever	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040281 - Very frequent	144
HP:0001954	HP:0001954	Recurrent fever	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0001954	HP:0001954	Recurrent fever	0	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS		186
HP:0001954	HP:0001954	Recurrent fever	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0001954	HP:0001954	Recurrent fever	0	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT		281
HP:0001954	HP:0001954	Recurrent fever	0	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE		281
HP:0001954	HP:0001954	Recurrent fever	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0001954	HP:0001954	Recurrent fever	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0001954	HP:0001954	Recurrent fever	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040281 - Very frequent	150
HP:0001954	HP:0001954	Recurrent fever	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0001954	HP:0001954	Recurrent fever	0	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V	HP:0040283 - Occasional	20
HP:0001954	HP:0001954	Recurrent fever	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0001954	HP:0001954	Recurrent fever	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001954	HP:0001954	Recurrent fever	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0001954	HP:0001954	Recurrent fever	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0001954	HP:0001954	Recurrent fever	0	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation		217
HP:0001954	HP:0001954	Recurrent fever	0	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1		217
HP:0001954	HP:0001954	Recurrent fever	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0001954	HP:0001954	Recurrent fever	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0001954	HP:0001954	Recurrent fever	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040282 - Frequent	97
HP:0001954	HP:0001954	Recurrent fever	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0001954	HP:0001954	Recurrent fever	0	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9	.	19
HP:0001954	HP:0001954	Recurrent fever	0	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0001954	HP:0001954	Recurrent fever	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.	98
HP:0001954	HP:0001954	Recurrent fever	0	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040282 - Frequent	79
HP:0001954	HP:0001954	Recurrent fever	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0001954	HP:0001954	Recurrent fever	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0001954	HP:0001954	Recurrent fever	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0001954	HP:0001954	Recurrent fever	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0001954	HP:0001954	Recurrent fever	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0001954	HP:0001954	Recurrent fever	0	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0001954	HP:0001954	Recurrent fever	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.	19
HP:0001954	HP:0001954	Recurrent fever	0	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.	43
HP:0001954	HP:0001954	Recurrent fever	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0001954	HP:0001954	Recurrent fever	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0001954	HP:0001954	Recurrent fever	0	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0001954	HP:0001954	Recurrent fever	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040282 - Frequent	7
HP:0001954	HP:0001954	Recurrent fever	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0001954	HP:0001954	Recurrent fever	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001954	HP:0001954	Recurrent fever	0	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61	.	2
HP:0001954	HP:0001954	Recurrent fever	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0001954	HP:0001954	Recurrent fever	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0001954	HP:0001954	Recurrent fever	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040282 - Frequent	71
HP:0001954	HP:0001954	Recurrent fever	0	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0001954	HP:0001954	Recurrent fever	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001954	HP:0001954	Recurrent fever	0	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0001954	HP:0001954	Recurrent fever	0	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10	.	31
HP:0001954	HP:0001954	Recurrent fever	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0001954	HP:0001954	Recurrent fever	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0001954	HP:0001954	Recurrent fever	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0001954	HP:0001954	Recurrent fever	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001954	HP:0001954	Recurrent fever	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0001954	HP:0001954	Recurrent fever	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0001954	HP:0001954	Recurrent fever	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0001954	HP:0001954	Recurrent fever	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040281 - Very frequent	131
HP:0001954	HP:0001954	Recurrent fever	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0001954	HP:0001954	Recurrent fever	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0001954	HP:0001954	Recurrent fever	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001954	HP:0001954	Recurrent fever	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001954	HP:0001954	Recurrent fever	0	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2	.	81
HP:0001954	HP:0001954	Recurrent fever	0	ZFHX2 CL E G H	85446	20152	OMIM:147430	Marsili syndrome
HP:0001954	HP:0001954	Recurrent fever	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001954	HP:0032323	Periodic fever	1	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040282 - Frequent	79
HP:0001954	HP:0032323	Periodic fever	1	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR		1
HP:0001954	HP:0032324	Non-periodic recurrent fever	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040282 - Frequent	281
HP:0001954	HP:0032323	Periodic fever	1	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation	.	217
HP:0001954	HP:0032323	Periodic fever	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0001954	HP:0033087	Quotidian fever	2	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR		1

Genes (83) :ADA ADA2 ALPK1 ASAH1 BCAP31 C2ORF69 C3 CD70 CEBPE COG6 COG7 CRLF1 CYP11B2 CYP21A2 DEF6 DNASE2 DOCK2 ELANE ELF4 ELP1 FOCAD GALC GCH1 H4C5 HBB HEPHL1 HNRNPK IBA57 IFIH1 IL2RG ITK LACC1 LIFR LPIN2 MEFV MVK NAXD NGF NLRC4 NLRP1 NLRP12 NLRP3 NOD2 NTRK1 ORAI1 OTULIN PEX6 PMP22 PRF1 PRKCD PSMB4 PSMB8 PSMB9 PSMG2 PTS QDPR RBCK1 REL RIPK1 RNF168 RNU4ATAC SH2D1A SH3KBP1 SLC12A3 SLC29A3 SLC35C1 SLC41A1 SPTBN1 STAT2 STIM1 STING1 STX11 STXBP2 SYK TLR7 TNFAIP3 TNFRSF1A TRNT1 UBA1 WDR1 XIAP ZFHX2 ZNFX1

Diseases (95) :OMIM:102700 OMIM:615688 OMIM:614979 ORPHA:333 OMIM:228000 ORPHA:369939 OMIM:619423 OMIM:613779 OMIM:618261 OMIM:260570 ORPHA:363523 ORPHA:79333 OMIM:272430 OMIM:203400 OMIM:201910 OMIM:619573 OMIM:619858 OMIM:616433 ORPHA:2686 OMIM:301074 OMIM:223900 OMIM:619991 OMIM:245200 OMIM:233910 OMIM:619950 ORPHA:231214 ORPHA:231226 OMIM:261990 ORPHA:352665 ORPHA:453504 OMIM:615330 OMIM:619773 ORPHA:276 OMIM:613011 OMIM:618795 ORPHA:3206 OMIM:601559 OMIM:609628 OMIM:249100 OMIM:134610 OMIM:608068 ORPHA:3243 OMIM:260920 ORPHA:343 OMIM:618321 OMIM:608654 OMIM:616050 OMIM:617388 OMIM:611762 OMIM:607115 OMIM:617772 OMIM:120100 OMIM:191900 OMIM:617321 ORPHA:642 OMIM:256800 OMIM:612782 OMIM:617099 OMIM:614863 ORPHA:98916 OMIM:603553 OMIM:615559 OMIM:617591 OMIM:256040 OMIM:619183 OMIM:261640 OMIM:261630 OMIM:615895 OMIM:619652 OMIM:618852 ORPHA:420741 OMIM:210710 OMIM:308240 OMIM:300310 OMIM:263800 ORPHA:168569 ORPHA:99843 OMIM:619468 OMIM:619475 OMIM:618886 OMIM:612783 OMIM:615934 OMIM:603552 OMIM:613101 OMIM:619381 OMIM:301080 OMIM:616744 OMIM:142680 ORPHA:32960 OMIM:616084 OMIM:301054 OMIM:150550 OMIM:300635 OMIM:147430 OMIM:619644

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