Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
expand
Abnormality of temperature regulation (HP:0004370)help
..Starting node
..expand
Fever (HP:0001945)help
Term ID: 1945
Name: Fever
Synonym: Fever; Hyperthermia; Pyrexia
Definition: Body temperature elevated above the normal range.
Comments:
Reference: HP:0001945
Genes and Diseases:
 
       Child Nodes:
........expandEpisodic fever (HP:0001954) help
........expandUnexplained fevers (HP:0001955) help
........expandLow-grade fever (HP:0011134) help

 Sister Nodes: 
..expandHeat intolerance (HP:0002046) help
..expandHypothermia (HP:0002045) help
..expandMalignant hyperthermia (HP:0002047) help
..expandobsolete Impaired thermal sensitivity (HP:0006901) help
..expandTemperature instability (HP:0005968) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001945HP:0001945Fever0ABCC2 CL E G H124453ORPHA:234Dubin-Johnson syndromeHP:0040283 - Occasional119
HP:0001945HP:0001945Fever0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040283 - Occasional415
HP:0001945HP:0001945Fever0ABL1 CL E G H2576ORPHA:521Chronic myeloid leukemiaHP:0040282 - Frequent51
HP:0001945HP:0001945Fever0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040281 - Very frequent91
HP:0001945HP:0001945Fever0ACTN4 CL E G H81166ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional27
HP:0001945HP:0001945Fever0ADA CL E G H100186ORPHA:39041Omenn syndromeHP:0040282 - Frequent75
HP:0001945HP:0001945Fever0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0001945HP:0001945Fever0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0001945HP:0001945Fever0ADAMTS13 CL E G H110931366OMIM:274150Thrombotic thrombocytopenic purpura, hereditary.129
HP:0001945HP:0001945Fever0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0001945HP:0001945Fever0AK2 CL E G H204362ORPHA:33355Reticular dysgenesisHP:0040282 - Frequent19
HP:0001945HP:0001945Fever0ALDOA CL E G H226414ORPHA:57Glycogen storage disease due to aldolase A deficiencyHP:0040281 - Very frequent50
HP:0001945HP:0001945Fever0ALPK1 CL E G H8021620917OMIM:614979Splenomegaly, cytopenia, and vision loss
HP:0001945HP:0001945Fever0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile.126
HP:0001945HP:0001945Fever0ANK1 CL E G H286492ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional150
HP:0001945HP:0001945Fever0ANKFY1 CL E G H5147920763ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0001945HP:0001945Fever0ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001945HP:0001945Fever0ANLN CL E G H5444314082ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional6
HP:0001945HP:0001945Fever0APOL1 CL E G H8542618ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional3
HP:0001945HP:0001945Fever0AQP2 CL E G H359634OMIM:125800Diabetes insipidus, nephrogenic, 275
HP:0001945HP:0001945Fever0AQP2 CL E G H359634ORPHA:223Nephrogenic diabetes insipidusHP:0040282 - Frequent75
HP:0001945HP:0001945Fever0ARHGAP24 CL E G H8347825361ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional4
HP:0001945HP:0001945Fever0ARHGDIA CL E G H396678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional3
HP:0001945HP:0001945Fever0ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0001945HP:0001945Fever0ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis78
HP:0001945HP:0001945Fever0ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent145
HP:0001945HP:0001945Fever0ATM CL E G H472795ORPHA:52416Mantle cell lymphomaHP:0040282 - Frequent3267
HP:0001945HP:0001945Fever0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040283 - Occasional100
HP:0001945HP:0001945Fever0ATP1A2 CL E G H477800OMIM:602481Migraine, familial hemiplegic, 2.239
HP:0001945HP:0001945Fever0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001945HP:0001945Fever0AVP CL E G H551894ORPHA:30925Hereditary central diabetes insipidusHP:0040282 - Frequent22
HP:0001945HP:0001945Fever0AVPR2 CL E G H554897OMIM:304800Diabetes insipidus, nephrogenic, X-linked67
HP:0001945HP:0001945Fever0AVPR2 CL E G H554897ORPHA:223Nephrogenic diabetes insipidusHP:0040282 - Frequent67
HP:0001945HP:0001945Fever0BACH2 CL E G H6046814078OMIM:618394IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001945HP:0001945Fever0BCAP31 CL E G H1013416695ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome8
HP:0001945HP:0001945Fever0BCL10 CL E G H8915989ORPHA:52417MALT lymphomaHP:0040281 - Very frequent18
HP:0001945HP:0001945Fever0BCL2 CL E G H596990ORPHA:545Follicular lymphomaHP:0040281 - Very frequent1
HP:0001945HP:0001945Fever0BCL6 CL E G H6041001ORPHA:545Follicular lymphomaHP:0040281 - Very frequent1
HP:0001945HP:0001945Fever0BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent101
HP:0001945HP:0001945Fever0BCR CL E G H6131014ORPHA:521Chronic myeloid leukemiaHP:0040282 - Frequent5
HP:0001945HP:0001945Fever0BIRC3 CL E G H330591ORPHA:52417MALT lymphomaHP:0040281 - Very frequent
HP:0001945HP:0001945Fever0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent4
HP:0001945HP:0001945Fever0BRCA1 CL E G H6721100ORPHA:70567CholangiocarcinomaHP:0040283 - Occasional5769
HP:0001945HP:0001945Fever0BRCA2 CL E G H6751101ORPHA:70567CholangiocarcinomaHP:0040283 - Occasional7642
HP:0001945HP:0001945Fever0BRCA2 CL E G H6751101ORPHA:654NephroblastomaHP:0040283 - Occasional7642
HP:0001945HP:0001945Fever0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040281 - Very frequent109
HP:0001945HP:0001945Fever0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040282 - Frequent1
HP:0001945HP:0001945Fever0C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001945HP:0001945Fever0C3 CL E G H7181318OMIM:613779Complement component 3 deficiency, autosomal recessive92
HP:0001945HP:0001945Fever0C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040281 - Very frequent1
HP:0001945HP:0001945Fever0CACNA1A CL E G H7731388OMIM:141500Migraine, familial hemiplegic, 1.449
HP:0001945HP:0001945Fever0CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesiaHP:0040282 - Frequent247
HP:0001945HP:0001945Fever0CACNA1S CL E G H7791397OMIM:601887Malignant hyperthermia, susceptibility to, 5.247
HP:0001945HP:0001945Fever0CALR CL E G H8111455ORPHA:131Budd-Chiari syndromeHP:0040282 - Frequent1
HP:0001945HP:0001945Fever0CALR CL E G H8111455OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included1
HP:0001945HP:0001945Fever0CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040283 - Occasional1
HP:0001945HP:0001945Fever0CASK CL E G H85731497OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency.118
HP:0001945HP:0001945Fever0CCND1 CL E G H5951582ORPHA:52416Mantle cell lymphomaHP:0040282 - Frequent1
HP:0001945HP:0001945Fever0CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0001945HP:0001945Fever0CD244 CL E G H5174418171OMIM:180300RHEUMATOID ARTHRITIS; RA2
HP:0001945HP:0001945Fever0CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis8
HP:0001945HP:0001945Fever0CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040282 - Frequent8
HP:0001945HP:0001945Fever0CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0001945HP:0001945Fever0CD2AP CL E G H2360714258ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional105
HP:0001945HP:0001945Fever0CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040282 - Frequent18
HP:0001945HP:0001945Fever0CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040282 - Frequent24
HP:0001945HP:0001945Fever0CD70 CL E G H97011937OMIM:618261LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0001945HP:0001945Fever0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent9
HP:0001945HP:0001945Fever0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent6
HP:0001945HP:0001945Fever0CEBPE CL E G H10531836OMIM:260570Pelger-Huet-Like anomaly and episodic fever with abdominal pain.3
HP:0001945HP:0001945Fever0CFH CL E G H30754883OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.86
HP:0001945HP:0001945Fever0CFHR1 CL E G H30784888OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0001945HP:0001945Fever0CFHR3 CL E G H1087816980OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0001945HP:0001945Fever0CFTR CL E G H10801884ORPHA:60033Idiopathic bronchiectasisHP:0040283 - Occasional1371
HP:0001945HP:0001945Fever0CFTR CL E G H10801884OMIM:167800Pancreatitis, hereditary.1371
HP:0001945HP:0001945Fever0CHD7 CL E G H5563620626ORPHA:39041Omenn syndromeHP:0040282 - Frequent515
HP:0001945HP:0001945Fever0CHEK2 CL E G H1120016627ORPHA:668OsteosarcomaHP:0040284 - Very rare833
HP:0001945HP:0001945Fever0CIITA CL E G H42617067OMIM:180300RHEUMATOID ARTHRITIS; RA118
HP:0001945HP:0001945Fever0CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent38
HP:0001945HP:0001945Fever0COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome71
HP:0001945HP:0001945Fever0COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0001945HP:0001945Fever0COL1A1 CL E G H12772197OMIM:114000Caffey disease.373
HP:0001945HP:0001945Fever0COL1A1 CL E G H12772197ORPHA:1310Caffey diseaseHP:0040282 - Frequent373
HP:0001945HP:0001945Fever0COL4A3 CL E G H12852204ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional161
HP:0001945HP:0001945Fever0COQ8B CL E G H7993419041ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional35
HP:0001945HP:0001945Fever0COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0001945HP:0001945Fever0COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0001945HP:0001945Fever0COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0001945HP:0001945Fever0COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0001945HP:0001945Fever0COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0001945HP:0001945Fever0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0001945HP:0001945Fever0CPT2 CL E G H13762330OMIM:614212Encephalopathy, acute, infection-induced, susceptibility to, 4.101
HP:0001945HP:0001945Fever0CR2 CL E G H13802336OMIM:614699IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID710
HP:0001945HP:0001945Fever0CRB2 CL E G H28620418688ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional12
HP:0001945HP:0001945Fever0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 124
HP:0001945HP:0001945Fever0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040281 - Very frequent10
HP:0001945HP:0001945Fever0CTRC CL E G H113302523OMIM:167800Pancreatitis, hereditary.39
HP:0001945HP:0001945Fever0CYBA CL E G H15352577ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent27
HP:0001945HP:0001945Fever0CYBB CL E G H15362578ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent111
HP:0001945HP:0001945Fever0CYBB CL E G H15362578OMIM:306400Chronic granulomatous disease, X-linked111
HP:0001945HP:0001945Fever0CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent
HP:0001945HP:0001945Fever0CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001945HP:0001945Fever0CYP11B2 CL E G H15852592OMIM:203400Corticosterone methyloxidase type I deficiency73
HP:0001945HP:0001945Fever0CYP21A2 CL E G H15892600OMIM:201910Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency.86
HP:0001945HP:0001945Fever0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040283 - Occasional
HP:0001945HP:0001945Fever0DAAM2 CL E G H2350018143ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0001945HP:0001945Fever0DCLRE1C CL E G H6442117642ORPHA:39041Omenn syndromeHP:0040282 - Frequent94
HP:0001945HP:0001945Fever0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent30
HP:0001945HP:0001945Fever0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001945HP:0001945Fever0DIS3L2 CL E G H12956328648ORPHA:654NephroblastomaHP:0040283 - Occasional164
HP:0001945HP:0001945Fever0DNASE2 CL E G H17772960OMIM:619858
HP:0001945HP:0001945Fever0DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0001945HP:0001945Fever0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI.108
HP:0001945HP:0001945Fever0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0001945HP:0001945Fever0EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndromeHP:0040283 - Occasional65
HP:0001945HP:0001945Fever0EIF2B1 CL E G H19673257OMIM:603896Leukoencephalopathy with vanishing white matter.42
HP:0001945HP:0001945Fever0EIF2B2 CL E G H88923258OMIM:603896Leukoencephalopathy with vanishing white matter.24
HP:0001945HP:0001945Fever0EIF2B3 CL E G H88913259OMIM:603896Leukoencephalopathy with vanishing white matter.32
HP:0001945HP:0001945Fever0EIF2B4 CL E G H88903260OMIM:603896Leukoencephalopathy with vanishing white matter.38
HP:0001945HP:0001945Fever0EIF2B5 CL E G H88933261OMIM:603896Leukoencephalopathy with vanishing white matter.48
HP:0001945HP:0001945Fever0ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent79
HP:0001945HP:0001945Fever0ELANE CL E G H19913309OMIM:162800Cyclic neutropenia.79
HP:0001945HP:0001945Fever0ELANE CL E G H19913309ORPHA:2686Cyclic neutropenia79
HP:0001945HP:0001945Fever0ELF4 CL E G H20003319OMIM:301074AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL21
HP:0001945HP:0001945Fever0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III133
HP:0001945HP:0001945Fever0EMP2 CL E G H20133334ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional4
HP:0001945HP:0001945Fever0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040283 - Occasional151
HP:0001945HP:0001945Fever0EPB41 CL E G H20353377ORPHA:288Hereditary elliptocytosisHP:0040284 - Very rare6
HP:0001945HP:0001945Fever0EPB42 CL E G H20383381ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional51
HP:0001945HP:0001945Fever0ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040281 - Very frequent1
HP:0001945HP:0001945Fever0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent106
HP:0001945HP:0001945Fever0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent54
HP:0001945HP:0001945Fever0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent158
HP:0001945HP:0001945Fever0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent83
HP:0001945HP:0001945Fever0F5 CL E G H21533542ORPHA:131Budd-Chiari syndromeHP:0040282 - Frequent159
HP:0001945HP:0001945Fever0FAH CL E G H21843579OMIM:276700Tyrosinemia, type I107
HP:0001945HP:0001945Fever0FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040281 - Very frequent59
HP:0001945HP:0001945Fever0FBP1 CL E G H22033606OMIM:229700Fructose-1,6-Bisphosphatase deficiency.64
HP:0001945HP:0001945Fever0FCGR3B CL E G H22153620ORPHA:464370Neonatal alloimmune neutropeniaHP:0040283 - Occasional5
HP:0001945HP:0001945Fever0FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent4
HP:0001945HP:0001945Fever0FOCAD CL E G H5491423377OMIM:6199913
HP:0001945HP:0001945Fever0FOXP1 CL E G H270863823ORPHA:52417MALT lymphomaHP:0040281 - Very frequent184
HP:0001945HP:0001945Fever0G6PD CL E G H25394057OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency.101
HP:0001945HP:0001945Fever0GAA CL E G H25484065OMIM:232300Glycogen storage disease II.407
HP:0001945HP:0001945Fever0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0001945HP:0001945Fever0GALC CL E G H25814115OMIM:245200Krabbe disease160
HP:0001945HP:0001945Fever0GAPVD1 CL E G H2613023375ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0001945HP:0001945Fever0GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndromeHP:0040282 - Frequent137
HP:0001945HP:0001945Fever0GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B86
HP:0001945HP:0001945Fever0GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent56
HP:0001945HP:0001945Fever0GLA CL E G H27174296ORPHA:324Fabry diseaseHP:0040283 - Occasional291
HP:0001945HP:0001945Fever0GPC3 CL E G H27194451ORPHA:654NephroblastomaHP:0040283 - Occasional73
HP:0001945HP:0001945Fever0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent2
HP:0001945HP:0001945Fever0GYPC CL E G H29954704ORPHA:288Hereditary elliptocytosisHP:0040284 - Very rare5
HP:0001945HP:0001945Fever0H19 CL E G H2831204713ORPHA:654NephroblastomaHP:0040283 - Occasional4
HP:0001945HP:0001945Fever0H4C5 CL E G H83674790OMIM:619950
HP:0001945HP:0001945Fever0HAVCR2 CL E G H8486818437ORPHA:86884Subcutaneous panniculitis-like T-cell lymphomaHP:0040282 - Frequent
HP:0001945HP:0001945Fever0HAVCR2 CL E G H8486818437OMIM:618398T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE.
HP:0001945HP:0001945Fever0HBB CL E G H30434827ORPHA:231214Beta-thalassemia major580
HP:0001945HP:0001945Fever0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemia580
HP:0001945HP:0001945Fever0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0001945HP:0001945Fever0HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040281 - Very frequent4
HP:0001945HP:0001945Fever0HLA-B CL E G H31064932ORPHA:397Giant cell arteritisHP:0040281 - Very frequent4
HP:0001945HP:0001945Fever0HLA-B CL E G H31064932ORPHA:29207Reactive arthritisHP:0040283 - Occasional4
HP:0001945HP:0001945Fever0HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndromeHP:0040281 - Very frequent4
HP:0001945HP:0001945Fever0HLA-B CL E G H31064932ORPHA:3287Takayasu arteritisHP:0040281 - Very frequent4
HP:0001945HP:0001945Fever0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040281 - Very frequent
HP:0001945HP:0001945Fever0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040281 - Very frequent1
HP:0001945HP:0001945Fever0HLA-DRB1 CL E G H31234948ORPHA:747Autoimmune pulmonary alveolar proteinosisHP:0040284 - Very rare2
HP:0001945HP:0001945Fever0HLA-DRB1 CL E G H31234948ORPHA:545Follicular lymphomaHP:0040281 - Very frequent2
HP:0001945HP:0001945Fever0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritisHP:0040281 - Very frequent2
HP:0001945HP:0001945Fever0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040282 - Frequent2
HP:0001945HP:0001945Fever0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 1.2
HP:0001945HP:0001945Fever0HLA-DRB1 CL E G H31234948ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040281 - Very frequent2
HP:0001945HP:0001945Fever0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040283 - Occasional81
HP:0001945HP:0001945Fever0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040283 - Occasional35
HP:0001945HP:0001945Fever0HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency.35
HP:0001945HP:0001945Fever0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0001945HP:0001945Fever0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0001945HP:0001945Fever0HTR1A CL E G H33505286OMIM:614674Periodic fever, menstrual cycle-dependent.2
HP:0001945HP:0001945Fever0IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 316
HP:0001945HP:0001945Fever0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0001945HP:0001945Fever0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0001945HP:0001945Fever0IFIH1 CL E G H6413518873OMIM:619773IMMUNODEFICIENCY 95; IMD9528
HP:0001945HP:0001945Fever0IFNG CL E G H34585438OMIM:618963IMMUNODEFICIENCY 69; IMD6923
HP:0001945HP:0001945Fever0IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040281 - Very frequent60
HP:0001945HP:0001945Fever0IFNGR1 CL E G H34595439OMIM:209950Immunodeficiency 27A, mycobacteriosis, AR60
HP:0001945HP:0001945Fever0IGH CL E G H34925477ORPHA:545Follicular lymphomaHP:0040281 - Very frequent7
HP:0001945HP:0001945Fever0IGH CL E G H34925477ORPHA:52417MALT lymphomaHP:0040281 - Very frequent7
HP:0001945HP:0001945Fever0IGH CL E G H34925477ORPHA:52416Mantle cell lymphomaHP:0040282 - Frequent7
HP:0001945HP:0001945Fever0IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent7
HP:0001945HP:0001945Fever0IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0001945HP:0001945Fever0IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndromeHP:0040281 - Very frequent8
HP:0001945HP:0001945Fever0IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040281 - Very frequent2
HP:0001945HP:0001945Fever0IL10 CL E G H35865962OMIM:180300RHEUMATOID ARTHRITIS; RA2
HP:0001945HP:0001945Fever0IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0001945HP:0001945Fever0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0001945HP:0001945Fever0IL12B CL E G H35935970ORPHA:3287Takayasu arteritisHP:0040281 - Very frequent31
HP:0001945HP:0001945Fever0IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040281 - Very frequent1
HP:0001945HP:0001945Fever0IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis65
HP:0001945HP:0001945Fever0IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001945HP:0001945Fever0IL2RG CL E G H35616010ORPHA:39041Omenn syndromeHP:0040282 - Frequent48
HP:0001945HP:0001945Fever0IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiency48
HP:0001945HP:0001945Fever0IL36RN CL E G H2652515561OMIM:614204PSORIASIS 14, PUSTULAR; PSORS1451
HP:0001945HP:0001945Fever0IL6 CL E G H35696018ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040281 - Very frequent2
HP:0001945HP:0001945Fever0IL7R CL E G H35756024ORPHA:39041Omenn syndromeHP:0040282 - Frequent94
HP:0001945HP:0001945Fever0IL7R CL E G H35756024ORPHA:169154T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiencyHP:0040283 - Occasional94
HP:0001945HP:0001945Fever0INF2 CL E G H6442323791ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional135
HP:0001945HP:0001945Fever0IRAK1 CL E G H36546112ORPHA:93552Pediatric systemic lupus erythematosusHP:0040282 - Frequent
HP:0001945HP:0001945Fever0IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent4
HP:0001945HP:0001945Fever0IRF4 CL E G H36626119ORPHA:3452Whipple diseaseHP:0040281 - Very frequent1
HP:0001945HP:0001945Fever0IRF8 CL E G H33945358OMIM:614893IMMUNODEFICIENCY 32A; IMD32A5
HP:0001945HP:0001945Fever0IRF8 CL E G H33945358OMIM:226990Immunodeficiency 32B.5
HP:0001945HP:0001945Fever0IRF8 CL E G H33945358ORPHA:319600Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiencyHP:0040281 - Very frequent5
HP:0001945HP:0001945Fever0ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0001945HP:0001945Fever0JAK2 CL E G H37176192ORPHA:131Budd-Chiari syndromeHP:0040282 - Frequent57
HP:0001945HP:0001945Fever0JAK2 CL E G H37176192OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included57
HP:0001945HP:0001945Fever0JAK2 CL E G H37176192ORPHA:824Primary myelofibrosisHP:0040283 - Occasional57
HP:0001945HP:0001945Fever0KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0001945HP:0001945Fever0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0001945HP:0001945Fever0KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent327
HP:0001945HP:0001945Fever0KLHL7 CL E G H5597515646OMIM:617055Crisponi/cold-Induced sweating syndrome 3.42
HP:0001945HP:0001945Fever0KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0001945HP:0001945Fever0KRT18 CL E G H38756430OMIM:215600Cirrhosis, familial.19
HP:0001945HP:0001945Fever0LACC1 CL E G H14481126789OMIM:618795JUVENILE ARTHRITIS; JUVAR1
HP:0001945HP:0001945Fever0LACC1 CL E G H14481126789ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040281 - Very frequent1
HP:0001945HP:0001945Fever0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosa116
HP:0001945HP:0001945Fever0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosa167
HP:0001945HP:0001945Fever0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosa135
HP:0001945HP:0001945Fever0LBR CL E G H39306518ORPHA:779Reynolds syndromeHP:0040282 - Frequent70
HP:0001945HP:0001945Fever0LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndrome144
HP:0001945HP:0001945Fever0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0001945HP:0001945Fever0LIG4 CL E G H39816601ORPHA:39041Omenn syndromeHP:0040282 - Frequent88
HP:0001945HP:0001945Fever0LIPA CL E G H39886617ORPHA:75233Wolman diseaseHP:0040283 - Occasional73
HP:0001945HP:0001945Fever0LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0001945HP:0001945Fever0LPIN1 CL E G H2317513345OMIM:268200Rhabdomyolysis, acute recurrent.95
HP:0001945HP:0001945Fever0LPIN2 CL E G H966314450ORPHA:77297Majeed syndromeHP:0040281 - Very frequent186
HP:0001945HP:0001945Fever0LPIN2 CL E G H966314450OMIM:609628MAJEED SYNDROME; MJDS186
HP:0001945HP:0001945Fever0LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0001945HP:0001945Fever0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0001945HP:0001945Fever0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040282 - Frequent239
HP:0001945HP:0001945Fever0MAGI2 CL E G H986318957ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional59
HP:0001945HP:0001945Fever0MALT1 CL E G H108926819ORPHA:52417MALT lymphomaHP:0040281 - Very frequent6
HP:0001945HP:0001945Fever0MCM10 CL E G H5538818043OMIM:619313IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001945HP:0001945Fever0MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040281 - Very frequent281
HP:0001945HP:0001945Fever0MEFV CL E G H42106998ORPHA:342Familial Mediterranean feverHP:0040281 - Very frequent281
HP:0001945HP:0001945Fever0MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0001945HP:0001945Fever0MEFV CL E G H42106998OMIM:134610FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT281
HP:0001945HP:0001945Fever0MEFV CL E G H42106998OMIM:608068NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE281
HP:0001945HP:0001945Fever0MEFV CL E G H42106998ORPHA:3243Sweet syndrome281
HP:0001945HP:0001945Fever0MIF CL E G H42827097ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040281 - Very frequent1
HP:0001945HP:0001945Fever0MLX CL E G H694511645ORPHA:3287Takayasu arteritisHP:0040281 - Very frequent
HP:0001945HP:0001945Fever0MPL CL E G H43527217OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included97
HP:0001945HP:0001945Fever0MPL CL E G H43527217ORPHA:824Primary myelofibrosisHP:0040283 - Occasional97
HP:0001945HP:0001945Fever0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent1
HP:0001945HP:0001945Fever0MTHFR CL E G H45247436ORPHA:563609Isolated anencephaly183
HP:0001945HP:0001945Fever0MTHFR CL E G H45247436ORPHA:563612Isolated exencephaly183
HP:0001945HP:0001945Fever0MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0001945HP:0001945Fever0MVK CL E G H45987530ORPHA:343Hyperimmunoglobulinemia D with periodic fever150
HP:0001945HP:0001945Fever0MYD88 CL E G H46157562ORPHA:183713Bacterial susceptibility due to TLR signaling pathway deficiencyHP:0040283 - Occasional9
HP:0001945HP:0001945Fever0MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemiaHP:0040283 - Occasional9
HP:0001945HP:0001945Fever0MYO1E CL E G H46437599ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional3
HP:0001945HP:0001945Fever0NAB2 CL E G H46657627ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare
HP:0001945HP:0001945Fever0NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent
HP:0001945HP:0001945Fever0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0001945HP:0001945Fever0NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent13
HP:0001945HP:0001945Fever0NCF2 CL E G H46887661ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent67
HP:0001945HP:0001945Fever0NCF4 CL E G H46897662ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent37
HP:0001945HP:0001945Fever0ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0001945HP:0001945Fever0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001945HP:0001945Fever0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001945HP:0001945Fever0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001945HP:0001945Fever0ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0001945HP:0001945Fever0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001945HP:0001945Fever0ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0001945HP:0001945Fever0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001945HP:0001945Fever0ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0001945HP:0001945Fever0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001945HP:0001945Fever0NFKBIL1 CL E G H47957800OMIM:180300RHEUMATOID ARTHRITIS; RA1
HP:0001945HP:0001945Fever0NGF CL E G H48037808OMIM:608654Neuropathy, hereditary sensory and autonomic, type V20
HP:0001945HP:0001945Fever0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0001945HP:0001945Fever0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndrome51
HP:0001945HP:0001945Fever0NLRC4 CL E G H5848416412OMIM:616050AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC30
HP:0001945HP:0001945Fever0NLRC4 CL E G H5848416412OMIM:616115FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS430
HP:0001945HP:0001945Fever0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0001945HP:0001945Fever0NLRP12 CL E G H9166222938OMIM:611762Familial cold autoinflammatory syndrome 299
HP:0001945HP:0001945Fever0NLRP3 CL E G H11454816400ORPHA:1451CINCA syndromeHP:0040281 - Very frequent217
HP:0001945HP:0001945Fever0NLRP3 CL E G H11454816400OMIM:607115CINCA SYNDROME; CINCA217
HP:0001945HP:0001945Fever0NLRP3 CL E G H11454816400OMIM:617772Deafness, autosomal dominant 34, with or without inflammation.217
HP:0001945HP:0001945Fever0NLRP3 CL E G H11454816400OMIM:120100FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1217
HP:0001945HP:0001945Fever0NLRP3 CL E G H11454816400ORPHA:47045Familial cold urticariaHP:0040281 - Very frequent217
HP:0001945HP:0001945Fever0NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome217
HP:0001945HP:0001945Fever0NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040283 - Occasional217
HP:0001945HP:0001945Fever0NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040282 - Frequent187
HP:0001945HP:0001945Fever0NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0001945HP:0001945Fever0NPHS1 CL E G H48687908ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional241
HP:0001945HP:0001945Fever0NPHS2 CL E G H782713394ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional69
HP:0001945HP:0001945Fever0NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent12
HP:0001945HP:0001945Fever0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0001945HP:0001945Fever0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis97
HP:0001945HP:0001945Fever0NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent
HP:0001945HP:0001945Fever0NUP107 CL E G H5712229914ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional5
HP:0001945HP:0001945Fever0NUP133 CL E G H5574618016ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional1
HP:0001945HP:0001945Fever0NUP160 CL E G H2327918017ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0001945HP:0001945Fever0NUP205 CL E G H2316518658ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional1
HP:0001945HP:0001945Fever0NUP37 CL E G H7902329929ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0001945HP:0001945Fever0NUP85 CL E G H799028734ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0001945HP:0001945Fever0NUP93 CL E G H968828958ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional5
HP:0001945HP:0001945Fever0ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 919
HP:0001945HP:0001945Fever0OTULIN CL E G H9026825118OMIM:617099AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS3
HP:0001945HP:0001945Fever0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritisHP:0040281 - Very frequent3
HP:0001945HP:0001945Fever0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities.
HP:0001945HP:0001945Fever0PAX2 CL E G H50768616ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional39
HP:0001945HP:0001945Fever0PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B98
HP:0001945HP:0001945Fever0PIK3CG CL E G H52948978OMIM:619802IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD972
HP:0001945HP:0001945Fever0PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent43
HP:0001945HP:0001945Fever0PKHD1 CL E G H53149016ORPHA:53035Caroli diseaseHP:0040283 - Occasional563
HP:0001945HP:0001945Fever0PLCE1 CL E G H5119617175ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional118
HP:0001945HP:0001945Fever0PML CL E G H53719113ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent3
HP:0001945HP:0001945Fever0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040283 - Occasional150
HP:0001945HP:0001945Fever0PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathy79
HP:0001945HP:0001945Fever0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0001945HP:0001945Fever0POMP CL E G H5137120330OMIM:618048Proteasome-Associated autoinflammatory syndrome 2.2
HP:0001945HP:0001945Fever0POU6F2 CL E G H1128121694ORPHA:654NephroblastomaHP:0040283 - Occasional2
HP:0001945HP:0001945Fever0PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040281 - Very frequent58
HP:0001945HP:0001945Fever0PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 258
HP:0001945HP:0001945Fever0PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent134
HP:0001945HP:0001945Fever0PRKAR1A CL E G H55739388ORPHA:615Familial atrial myxomaHP:0040283 - Occasional134
HP:0001945HP:0001945Fever0PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0001945HP:0001945Fever0PRNP CL E G H56219449OMIM:600072Fatal familial insomnia.69
HP:0001945HP:0001945Fever0PRSS1 CL E G H56449475OMIM:167800Pancreatitis, hereditary.51
HP:0001945HP:0001945Fever0PRSS2 CL E G H56459483OMIM:167800Pancreatitis, hereditary.1
HP:0001945HP:0001945Fever0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040281 - Very frequent
HP:0001945HP:0001945Fever0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0001945HP:0001945Fever0PSMB10 CL E G H56999538OMIM:619175PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0001945HP:0001945Fever0PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3
HP:0001945HP:0001945Fever0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0001945HP:0001945Fever0PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3
HP:0001945HP:0001945Fever0PSMG2 CL E G H5698424929OMIM:619183PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0001945HP:0001945Fever0PSTPIP1 CL E G H90519580ORPHA:69126Pyogenic arthritis-pyoderma gangrenosum-acne syndromeHP:0040281 - Very frequent96
HP:0001945HP:0001945Fever0PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001945HP:0001945Fever0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritisHP:0040281 - Very frequent3
HP:0001945HP:0001945Fever0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040281 - Very frequent3
HP:0001945HP:0001945Fever0PTPN22 CL E G H261919652OMIM:180300RHEUMATOID ARTHRITIS; RA3
HP:0001945HP:0001945Fever0PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis3
HP:0001945HP:0001945Fever0PTPN3 CL E G H57749655ORPHA:70567CholangiocarcinomaHP:0040283 - Occasional1
HP:0001945HP:0001945Fever0PTPRC CL E G H57889666OMIM:61992425
HP:0001945HP:0001945Fever0PTPRO CL E G H58009678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional2
HP:0001945HP:0001945Fever0PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A19
HP:0001945HP:0001945Fever0QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C43
HP:0001945HP:0001945Fever0RAB27A CL E G H58739766ORPHA:79477Griscelli syndrome type 2HP:0040283 - Occasional67
HP:0001945HP:0001945Fever0RAB27A CL E G H58739766OMIM:607624Griscelli syndrome, type 267
HP:0001945HP:0001945Fever0RAG1 CL E G H58969831ORPHA:39041Omenn syndromeHP:0040282 - Frequent127
HP:0001945HP:0001945Fever0RAG1 CL E G H58969831ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040282 - Frequent127
HP:0001945HP:0001945Fever0RAG2 CL E G H58979832ORPHA:39041Omenn syndromeHP:0040282 - Frequent50
HP:0001945HP:0001945Fever0RAG2 CL E G H58979832ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040282 - Frequent50
HP:0001945HP:0001945Fever0RANBP2 CL E G H59039848ORPHA:88619Familial acute necrotizing encephalopathyHP:0040282 - Frequent57
HP:0001945HP:0001945Fever0RARA CL E G H59149864ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent2
HP:0001945HP:0001945Fever0RB1 CL E G H59259884ORPHA:668OsteosarcomaHP:0040284 - Very rare365
HP:0001945HP:0001945Fever0RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency10
HP:0001945HP:0001945Fever0REL CL E G H59669954OMIM:619652IMMUNODEFICIENCY 92; IMD921
HP:0001945HP:0001945Fever0REST CL E G H59789966ORPHA:654NephroblastomaHP:0040283 - Occasional7
HP:0001945HP:0001945Fever0RIPK1 CL E G H873710019OMIM:618852AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0001945HP:0001945Fever0RMRP CL E G H602310031ORPHA:39041Omenn syndromeHP:0040282 - Frequent37
HP:0001945HP:0001945Fever0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0001945HP:0001945Fever0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0001945HP:0001945Fever0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0001945HP:0001945Fever0RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndrome7
HP:0001945HP:0001945Fever0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0001945HP:0001945Fever0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0001945HP:0001945Fever0RUNX1 CL E G H86110471ORPHA:521Chronic myeloid leukemiaHP:0040282 - Frequent181
HP:0001945HP:0001945Fever0RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesiaHP:0040282 - Frequent1200
HP:0001945HP:0001945Fever0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0001945HP:0001945Fever0SCNN1A CL E G H633710599ORPHA:60033Idiopathic bronchiectasisHP:0040283 - Occasional67
HP:0001945HP:0001945Fever0SCNN1B CL E G H633810600ORPHA:60033Idiopathic bronchiectasisHP:0040283 - Occasional61
HP:0001945HP:0001945Fever0SCNN1G CL E G H634010602ORPHA:60033Idiopathic bronchiectasisHP:0040283 - Occasional57
HP:0001945HP:0001945Fever0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0001945HP:0001945Fever0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent
HP:0001945HP:0001945Fever0SH2B3 CL E G H1001929605OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included4
HP:0001945HP:0001945Fever0SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0001945HP:0001945Fever0SH3KBP1 CL E G H3001113867OMIM:300310Immunodeficiency 612
HP:0001945HP:0001945Fever0SLC11A1 CL E G H655610907ORPHA:3389TuberculosisHP:0040282 - Frequent2
HP:0001945HP:0001945Fever0SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal.75
HP:0001945HP:0001945Fever0SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0001945HP:0001945Fever0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2).110
HP:0001945HP:0001945Fever0SLC22A4 CL E G H658310968OMIM:180300RHEUMATOID ARTHRITIS; RA3
HP:0001945HP:0001945Fever0SLC29A3 CL E G H5531523096ORPHA:168569H syndrome68
HP:0001945HP:0001945Fever0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0001945HP:0001945Fever0SLC34A2 CL E G H1056811020ORPHA:60025Pulmonary alveolar microlithiasisHP:0040284 - Very rare7
HP:0001945HP:0001945Fever0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type II71
HP:0001945HP:0001945Fever0SLC41A1 CL E G H25442819429OMIM:619468NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0001945HP:0001945Fever0SLC4A1 CL E G H652111027ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional109
HP:0001945HP:0001945Fever0SLC5A1 CL E G H652311036ORPHA:35710Glucose-galactose malabsorptionHP:0040284 - Very rare74
HP:0001945HP:0001945Fever0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0001945HP:0001945Fever0SPINK1 CL E G H669011244OMIM:167800Pancreatitis, hereditary.34
HP:0001945HP:0001945Fever0SPP1 CL E G H669611255ORPHA:93552Pediatric systemic lupus erythematosusHP:0040282 - Frequent
HP:0001945HP:0001945Fever0SPTA1 CL E G H670811272ORPHA:288Hereditary elliptocytosisHP:0040284 - Very rare228
HP:0001945HP:0001945Fever0SPTA1 CL E G H670811272ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional228
HP:0001945HP:0001945Fever0SPTB CL E G H671011274ORPHA:288Hereditary elliptocytosisHP:0040284 - Very rare156
HP:0001945HP:0001945Fever0SPTB CL E G H671011274ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional156
HP:0001945HP:0001945Fever0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001945HP:0001945Fever0SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent
HP:0001945HP:0001945Fever0SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent1
HP:0001945HP:0001945Fever0STAT1 CL E G H677211362OMIM:614162Immunodeficiency 31C89
HP:0001945HP:0001945Fever0STAT2 CL E G H677311363OMIM:618886PSEUDO-TORCH SYNDROME 3; PTORCH39
HP:0001945HP:0001945Fever0STAT3 CL E G H677411364ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent110
HP:0001945HP:0001945Fever0STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndromeHP:0040283 - Occasional110
HP:0001945HP:0001945Fever0STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040281 - Very frequent2
HP:0001945HP:0001945Fever0STAT4 CL E G H677511365ORPHA:93552Pediatric systemic lupus erythematosusHP:0040282 - Frequent2
HP:0001945HP:0001945Fever0STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis2
HP:0001945HP:0001945Fever0STAT5B CL E G H677711367ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent12
HP:0001945HP:0001945Fever0STAT6 CL E G H677811368ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare1
HP:0001945HP:0001945Fever0STIM1 CL E G H678611386OMIM:612783Immunodeficiency 1031
HP:0001945HP:0001945Fever0STING1 CL E G H34006127962OMIM:615934STING-associated vasculopathy, infantile-onset
HP:0001945HP:0001945Fever0STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040281 - Very frequent85
HP:0001945HP:0001945Fever0STX11 CL E G H867611429OMIM:603552HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL485
HP:0001945HP:0001945Fever0STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040281 - Very frequent70
HP:0001945HP:0001945Fever0STXBP2 CL E G H681311445OMIM:613101HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL570
HP:0001945HP:0001945Fever0SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0001945HP:0001945Fever0TBC1D8B CL E G H5488524715ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional1
HP:0001945HP:0001945Fever0TBK1 CL E G H2911011584ORPHA:1930Herpes simplex virus encephalitisHP:0040282 - Frequent20
HP:0001945HP:0001945Fever0TBL1XR1 CL E G H7971829529ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent22
HP:0001945HP:0001945Fever0TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent2
HP:0001945HP:0001945Fever0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent241
HP:0001945HP:0001945Fever0TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent82
HP:0001945HP:0001945Fever0TET2 CL E G H5479025941ORPHA:824Primary myelofibrosisHP:0040283 - Occasional3
HP:0001945HP:0001945Fever0TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent3
HP:0001945HP:0001945Fever0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040283 - Occasional80
HP:0001945HP:0001945Fever0TICAM1 CL E G H14802218348ORPHA:1930Herpes simplex virus encephalitisHP:0040282 - Frequent6
HP:0001945HP:0001945Fever0TLR3 CL E G H709811849ORPHA:1930Herpes simplex virus encephalitisHP:0040282 - Frequent3
HP:0001945HP:0001945Fever0TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040281 - Very frequent3
HP:0001945HP:0001945Fever0TLR7 CL E G H5128415631OMIM:301080
HP:0001945HP:0001945Fever0TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK24
HP:0001945HP:0001945Fever0TNFAIP3 CL E G H712811896OMIM:616744AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL26
HP:0001945HP:0001945Fever0TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0001945HP:0001945Fever0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndrome131
HP:0001945HP:0001945Fever0TP53 CL E G H715711998ORPHA:668OsteosarcomaHP:0040284 - Very rare911
HP:0001945HP:0001945Fever0TRAF3 CL E G H718712033ORPHA:1930Herpes simplex virus encephalitisHP:0040282 - Frequent2
HP:0001945HP:0001945Fever0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0001945HP:0001945Fever0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 1.56
HP:0001945HP:0001945Fever0TRIM28 CL E G H1015516384ORPHA:654NephroblastomaHP:0040283 - Occasional2
HP:0001945HP:0001945Fever0TRIP13 CL E G H931912307ORPHA:654NephroblastomaHP:0040283 - Occasional2
HP:0001945HP:0001945Fever0TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0001945HP:0001945Fever0TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0001945HP:0001945Fever0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001945HP:0001945Fever0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0001945HP:0001945Fever0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001945HP:0001945Fever0TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0001945HP:0001945Fever0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0001945HP:0001945Fever0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0001945HP:0001945Fever0TRNT1 CL E G H5109517341OMIM:616084SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD28
HP:0001945HP:0001945Fever0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001945HP:0001945Fever0TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0001945HP:0001945Fever0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001945HP:0001945Fever0TRPC6 CL E G H722512338ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional107
HP:0001945HP:0001945Fever0TSC1 CL E G H724812362ORPHA:538LymphangioleiomyomatosisHP:0040283 - Occasional1090
HP:0001945HP:0001945Fever0TSC2 CL E G H724912363ORPHA:538LymphangioleiomyomatosisHP:0040283 - Occasional2738
HP:0001945HP:0001945Fever0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040283 - Occasional2
HP:0001945HP:0001945Fever0UBA1 CL E G H731712469OMIM:301054VEXAS SYNDROME; VEXAS35
HP:0001945HP:0001945Fever0UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0001945HP:0001945Fever0UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040281 - Very frequent116
HP:0001945HP:0001945Fever0UNC13D CL E G H20129423147OMIM:608898HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3116
HP:0001945HP:0001945Fever0UNC93B1 CL E G H8162213481ORPHA:1930Herpes simplex virus encephalitisHP:0040282 - Frequent5
HP:0001945HP:0001945Fever0VANGL2 CL E G H5721615511ORPHA:563609Isolated anencephaly2
HP:0001945HP:0001945Fever0VANGL2 CL E G H5721615511ORPHA:563612Isolated exencephaly2
HP:0001945HP:0001945Fever0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent65
HP:0001945HP:0001945Fever0WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001945HP:0001945Fever0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent6
HP:0001945HP:0001945Fever0WT1 CL E G H749012796ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional177
HP:0001945HP:0001945Fever0WT1 CL E G H749012796ORPHA:654NephroblastomaHP:0040283 - Occasional177
HP:0001945HP:0001945Fever0XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0001945HP:0001945Fever0XIAP CL E G H331592OMIM:300635Lymphoproliferative syndrome, X-linked, 281
HP:0001945HP:0001945Fever0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent34
HP:0001945HP:0001945Fever0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent86
HP:0001945HP:0001945Fever0ZBTB16 CL E G H770412930ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent1
HP:0001945HP:0001945Fever0ZFHX2 CL E G H8544620152OMIM:147430Marsili syndrome
HP:0001945HP:0001945Fever0ZFYVE19 CL E G H8493620758OMIM:619849
HP:0001945HP:0001945Fever0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0001945HP:0001945Fever0ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001945HP:0001954Recurrent fever1ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0001945HP:0001954Recurrent fever1ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0001945HP:0001955Unexplained fevers1ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent116
HP:0001945HP:0001954Recurrent fever1ALPK1 CL E G H8021620917OMIM:614979Splenomegaly, cytopenia, and vision loss
HP:0001945HP:0011134Low-grade fever1ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0001945HP:0001955Unexplained fevers1AQP2 CL E G H359634OMIM:125800Diabetes insipidus, nephrogenic, 2.75
HP:0001945HP:0001954Recurrent fever1ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040283 - Occasional78
HP:0001945HP:0001954Recurrent fever1ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis78
HP:0001945HP:0001955Unexplained fevers1AVPR2 CL E G H554897OMIM:304800Diabetes insipidus, nephrogenic, X-linked.67
HP:0001945HP:0001954Recurrent fever1BCAP31 CL E G H1013416695ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndromeHP:0040282 - Frequent8
HP:0001945HP:0001954Recurrent fever1C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001945HP:0001954Recurrent fever1C3 CL E G H7181318OMIM:613779Complement component 3 deficiency, autosomal recessive92
HP:0001945HP:0011134Low-grade fever1CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040283 - Occasional1
HP:0001945HP:0011134Low-grade fever1CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional8
HP:0001945HP:0001954Recurrent fever1CD70 CL E G H97011937OMIM:618261LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0001945HP:0001954Recurrent fever1CEBPE CL E G H10531836OMIM:260570Pelger-Huet-Like anomaly and episodic fever with abdominal pain.3
HP:0001945HP:0001954Recurrent fever1COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndromeHP:0040282 - Frequent71
HP:0001945HP:0001954Recurrent fever1COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0001945HP:0001954Recurrent fever1CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0001945HP:0001954Recurrent fever1CYP11B2 CL E G H15852592OMIM:203400Corticosterone methyloxidase type I deficiency.73
HP:0001945HP:0001954Recurrent fever1CYP21A2 CL E G H15892600OMIM:201910Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency.86
HP:0001945HP:0001954Recurrent fever1DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001945HP:0001954Recurrent fever1DNASE2 CL E G H17772960OMIM:619858
HP:0001945HP:0001954Recurrent fever1DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0001945HP:0033031Hyperpyrexia1DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0001945HP:0001954Recurrent fever1ELANE CL E G H19913309ORPHA:2686Cyclic neutropeniaHP:0040282 - Frequent79
HP:0001945HP:0001954Recurrent fever1ELF4 CL E G H20003319OMIM:301074AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL21
HP:0001945HP:0001954Recurrent fever1ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III.133
HP:0001945HP:0001954Recurrent fever1FOCAD CL E G H5491423377OMIM:6199913
HP:0001945HP:0001955Unexplained fevers1GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040281 - Very frequent160
HP:0001945HP:0001954Recurrent fever1GALC CL E G H25814115OMIM:245200Krabbe disease.160
HP:0001945HP:0001954Recurrent fever1GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B.86
HP:0001945HP:0001954Recurrent fever1H4C5 CL E G H83674790OMIM:619950
HP:0001945HP:0001954Recurrent fever1HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040283 - Occasional580
HP:0001945HP:0001954Recurrent fever1HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040283 - Occasional580
HP:0001945HP:0001954Recurrent fever1HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0001945HP:0001954Recurrent fever1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0001945HP:0001954Recurrent fever1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0001945HP:0001954Recurrent fever1IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 3.16
HP:0001945HP:0001955Unexplained fevers1IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent28
HP:0001945HP:0001954Recurrent fever1IFIH1 CL E G H6413518873OMIM:619773IMMUNODEFICIENCY 95; IMD9528
HP:0001945HP:0011134Low-grade fever1IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional65
HP:0001945HP:0011134Low-grade fever1IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0001945HP:0001954Recurrent fever1IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiencyHP:0040281 - Very frequent48
HP:0001945HP:0001954Recurrent fever1ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0001945HP:0011134Low-grade fever1JAK2 CL E G H37176192ORPHA:824Primary myelofibrosisHP:0040283 - Occasional57
HP:0001945HP:0001954Recurrent fever1LACC1 CL E G H14481126789OMIM:618795JUVENILE ARTHRITIS; JUVAR1
HP:0001945HP:0001955Unexplained fevers1LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional116
HP:0001945HP:0001955Unexplained fevers1LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional167
HP:0001945HP:0001955Unexplained fevers1LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional135
HP:0001945HP:0001954Recurrent fever1LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndromeHP:0040281 - Very frequent144
HP:0001945HP:0001954Recurrent fever1LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0001945HP:0001954Recurrent fever1LPIN2 CL E G H966314450OMIM:609628MAJEED SYNDROME; MJDS186
HP:0001945HP:0001955Unexplained fevers1LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0001945HP:0001954Recurrent fever1MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0001945HP:0001954Recurrent fever1MEFV CL E G H42106998OMIM:134610FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT281
HP:0001945HP:0001954Recurrent fever1MEFV CL E G H42106998OMIM:608068NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE281
HP:0001945HP:0001954Recurrent fever1MEFV CL E G H42106998ORPHA:3243Sweet syndrome281
HP:0001945HP:0011134Low-grade fever1MPL CL E G H43527217ORPHA:824Primary myelofibrosisHP:0040283 - Occasional97
HP:0001945HP:0030244Maternal fever in pregnancy1MTHFR CL E G H45247436ORPHA:563609Isolated anencephalyHP:0040283 - Occasional183
HP:0001945HP:0030244Maternal fever in pregnancy1MTHFR CL E G H45247436ORPHA:563612Isolated exencephalyHP:0040283 - Occasional183
HP:0001945HP:0001954Recurrent fever1MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0001945HP:0001954Recurrent fever1MVK CL E G H45987530ORPHA:343Hyperimmunoglobulinemia D with periodic feverHP:0040281 - Very frequent150
HP:0001945HP:0001954Recurrent fever1NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0001945HP:0001954Recurrent fever1NGF CL E G H48037808OMIM:608654Neuropathy, hereditary sensory and autonomic, type VHP:0040283 - Occasional20
HP:0001945HP:0001955Unexplained fevers1NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040284 - Very rare51
HP:0001945HP:0001954Recurrent fever1NLRC4 CL E G H5848416412OMIM:616050AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC30
HP:0001945HP:0001954Recurrent fever1NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0001945HP:0001954Recurrent fever1NLRP12 CL E G H9166222938OMIM:611762Familial cold autoinflammatory syndrome 299
HP:0001945HP:0001954Recurrent fever1NLRP3 CL E G H11454816400OMIM:607115CINCA SYNDROME; CINCA217
HP:0001945HP:0001954Recurrent fever1NLRP3 CL E G H11454816400OMIM:617772Deafness, autosomal dominant 34, with or without inflammation217
HP:0001945HP:0001954Recurrent fever1NLRP3 CL E G H11454816400OMIM:120100FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1217
HP:0001945HP:0001954Recurrent fever1NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome217
HP:0001945HP:0001954Recurrent fever1NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0001945HP:0001955Unexplained fevers1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040283 - Occasional97
HP:0001945HP:0001954Recurrent fever1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040282 - Frequent97
HP:0001945HP:0001954Recurrent fever1NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0001945HP:0001954Recurrent fever1ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 9.19
HP:0001945HP:0001954Recurrent fever1OTULIN CL E G H9026825118OMIM:617099AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS3
HP:0001945HP:0001954Recurrent fever1PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B.98
HP:0001945HP:0001954Recurrent fever1PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathyHP:0040282 - Frequent79
HP:0001945HP:0001954Recurrent fever1PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 258
HP:0001945HP:0001954Recurrent fever1PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0001945HP:0001955Unexplained fevers1PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040281 - Very frequent81
HP:0001945HP:0001954Recurrent fever1PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3
HP:0001945HP:0001954Recurrent fever1PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0001945HP:0001954Recurrent fever1PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3
HP:0001945HP:0001954Recurrent fever1PSMG2 CL E G H5698424929OMIM:619183PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0001945HP:0011134Low-grade fever1PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0001945HP:0011134Low-grade fever1PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional3
HP:0001945HP:0001954Recurrent fever1PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A.19
HP:0001945HP:0001954Recurrent fever1QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C.43
HP:0001945HP:0001954Recurrent fever1RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency10
HP:0001945HP:0001954Recurrent fever1REL CL E G H59669954OMIM:619652IMMUNODEFICIENCY 92; IMD921
HP:0001945HP:0001954Recurrent fever1RIPK1 CL E G H873710019OMIM:618852AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0001945HP:0001955Unexplained fevers1RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent33
HP:0001945HP:0001955Unexplained fevers1RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent34
HP:0001945HP:0001955Unexplained fevers1RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent60
HP:0001945HP:0001954Recurrent fever1RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndromeHP:0040282 - Frequent7
HP:0001945HP:0001954Recurrent fever1RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0001945HP:0001955Unexplained fevers1RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0001945HP:0001955Unexplained fevers1SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent55
HP:0001945HP:0001954Recurrent fever1SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0001945HP:0001954Recurrent fever1SH3KBP1 CL E G H3001113867OMIM:300310Immunodeficiency 61.2
HP:0001945HP:0001954Recurrent fever1SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0001945HP:0001954Recurrent fever1SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040283 - Occasional68
HP:0001945HP:0001954Recurrent fever1SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040282 - Frequent71
HP:0001945HP:0001954Recurrent fever1SLC41A1 CL E G H25442819429OMIM:619468NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0001945HP:0001954Recurrent fever1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001945HP:0001954Recurrent fever1STAT2 CL E G H677311363OMIM:618886PSEUDO-TORCH SYNDROME 3; PTORCH39
HP:0001945HP:0011134Low-grade fever1STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0001945HP:0001954Recurrent fever1STIM1 CL E G H678611386OMIM:612783Immunodeficiency 10.31
HP:0001945HP:0001954Recurrent fever1STING1 CL E G H34006127962OMIM:615934STING-associated vasculopathy, infantile-onset
HP:0001945HP:0001954Recurrent fever1STX11 CL E G H867611429OMIM:603552HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL485
HP:0001945HP:0001954Recurrent fever1STXBP2 CL E G H681311445OMIM:613101HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL570
HP:0001945HP:0001954Recurrent fever1SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0001945HP:0011134Low-grade fever1TET2 CL E G H5479025941ORPHA:824Primary myelofibrosisHP:0040283 - Occasional3
HP:0001945HP:0001954Recurrent fever1TLR7 CL E G H5128415631OMIM:301080
HP:0001945HP:0001955Unexplained fevers1TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIKHP:0040283 - Occasional24
HP:0001945HP:0001954Recurrent fever1TNFAIP3 CL E G H712811896OMIM:616744AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL26
HP:0001945HP:0001954Recurrent fever1TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0001945HP:0001954Recurrent fever1TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040281 - Very frequent131
HP:0001945HP:0001955Unexplained fevers1TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent56
HP:0001945HP:0001954Recurrent fever1TRNT1 CL E G H5109517341OMIM:616084SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD28
HP:0001945HP:0001954Recurrent fever1UBA1 CL E G H731712469OMIM:301054VEXAS SYNDROME; VEXAS35
HP:0001945HP:0030244Maternal fever in pregnancy1VANGL2 CL E G H5721615511ORPHA:563609Isolated anencephalyHP:0040283 - Occasional2
HP:0001945HP:0030244Maternal fever in pregnancy1VANGL2 CL E G H5721615511ORPHA:563612Isolated exencephalyHP:0040283 - Occasional2
HP:0001945HP:0001954Recurrent fever1WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001945HP:0001954Recurrent fever1XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0001945HP:0001954Recurrent fever1XIAP CL E G H331592OMIM:300635Lymphoproliferative syndrome, X-linked, 2.81
HP:0001945HP:0001954Recurrent fever1ZFHX2 CL E G H8544620152OMIM:147430Marsili syndrome
HP:0001945HP:0033399Persistent fever1ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001945HP:0001954Recurrent fever1ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001945HP:0030246Maternal first trimester fever2 CL E G H
HP:0001945HP:0030245Intrapartum fever2 CL E G H
HP:0001945HP:0032323Periodic fever2ELANE CL E G H19913309ORPHA:2686Cyclic neutropeniaHP:0040282 - Frequent79
HP:0001945HP:0032323Periodic fever2LACC1 CL E G H14481126789OMIM:618795JUVENILE ARTHRITIS; JUVAR1
HP:0001945HP:0032324Non-periodic recurrent fever2MEFV CL E G H42106998ORPHA:3243Sweet syndromeHP:0040282 - Frequent281
HP:0001945HP:0032323Periodic fever2NLRP3 CL E G H11454816400OMIM:617772Deafness, autosomal dominant 34, with or without inflammation.217
HP:0001945HP:0032323Periodic fever2TRNT1 CL E G H5109517341OMIM:616084SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD28
HP:0001945HP:0033087Quotidian fever3LACC1 CL E G H14481126789OMIM:618795JUVENILE ARTHRITIS; JUVAR1


Genes (384) :ABCC2 ABCC6 ABL1 ACAT1 ACTN4 ADA ADA2 ADAMTS13 ADAR AK2 ALDOA ALPK1 ALPL ANK1 ANKFY1 ANKRD55 ANLN APOL1 AQP2 ARHGAP24 ARHGDIA ASAH1 ASXL1 ATM ATP13A2 ATP1A2 ATP6 AVP AVPR2 BACH2 BCAP31 BCL10 BCL2 BCL6 BCOR BCR BIRC3 BLNK BRCA1 BRCA2 BTK BTNL2 C2ORF69 C3 C4A CACNA1A CACNA1S CALR CASK CCND1 CCR1 CD244 CD247 CD27 CD2AP CD3D CD3E CD70 CD79A CD79B CEBPE CFH CFHR1 CFHR3 CFTR CHD7 CHEK2 CIITA CLPB COG6 COG7 COL1A1 COL4A3 COQ8B COX1 COX2 COX3 CPT2 CR2 CRB2 CRLF1 CTLA4 CTRC CYBA CYBB CYBC1 CYP11B2 CYP21A2 CYTB DAAM2 DCLRE1C DDB2 DEF6 DIS3L2 DNASE2 DOCK2 DST EDA EIF2AK3 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ELANE ELF4 ELP1 EMP2 ENPP1 EPB41 EPB42 ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 F5 FAH FAS FBP1 FCGR3B FIP1L1 FOCAD FOXP1 G6PD GAA GALC GAPVD1 GATA2 GCH1 GFI1 GLA GPC3 GPR35 GYPC H19 H4C5 HAVCR2 HBB HEPHL1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMBS HMGCL HNRNPK HTR1A IBA57 IFIH1 IFNG IFNGR1 IGH IGHM IGLL1 IKZF1 IL10 IL12A IL12A-AS1 IL12B IL23R IL2RA IL2RB IL2RG IL36RN IL6 IL7R INF2 IRAK1 IRF2BP2 IRF4 IRF8 ITK JAK2 KCNJ1 KIF1B KIT KLHL7 KLRC4 KRT18 LACC1 LAMA3 LAMB3 LAMC2 LBR LIFR LIG4 LIPA LPIN1 LPIN2 LRRC8A LSM11 LYST MAGI2 MALT1 MCM10 MEFV MIF MLX MPL MST1 MTHFR MVK MYD88 MYO1E NAB2 NABP1 NAXD NCF1 NCF2 NCF4 ND1 ND2 ND3 ND4 ND5 ND6 NFKBIL1 NGF NGLY1 NKX2-1 NLRC4 NLRP1 NLRP12 NLRP3 NOD2 NPHS1 NPHS2 NPM1 NTRK1 NUMA1 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 ORAI1 OTULIN P4HA2 P4HTM PAX2 PEX6 PIK3CG PIK3R1 PKHD1 PLCE1 PML PMM2 PMP22 POLR3A POMP POU6F2 PRF1 PRKAR1A PRKCD PRNP PRSS1 PRSS2 PRTN3 PSAP PSMB10 PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTPN2 PTPN22 PTPN3 PTPRC PTPRO PTS QDPR RAB27A RAG1 RAG2 RANBP2 RARA RB1 RBCK1 REL REST RIPK1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF168 RNU4ATAC RNU7-1 RUNX1 RYR1 SAMHD1 SCNN1A SCNN1B SCNN1G SCYL1 SEMA4D SH2B3 SH2D1A SH3KBP1 SLC11A1 SLC12A1 SLC12A3 SLC19A3 SLC22A4 SLC29A3 SLC34A2 SLC35C1 SLC41A1 SLC4A1 SLC5A1 SMARCAL1 SPINK1 SPP1 SPTA1 SPTB SPTBN1 SRP54 SRSF2 STAT1 STAT2 STAT3 STAT4 STAT5B STAT6 STIM1 STING1 STX11 STXBP2 SYK TBC1D8B TBK1 TBL1XR1 TCF3 TCF4 TCIRG1 TET2 TH TICAM1 TLR3 TLR4 TLR7 TMEM165 TNFAIP3 TNFRSF1A TP53 TRAF3 TREX1 TRIM28 TRIP13 TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNT1 TRNV TRNW TRPC6 TSC1 TSC2 TSPOAP1 UBA1 UBAC2 UNC13D UNC93B1 VANGL2 WAS WDR1 WIPF1 WT1 XIAP XPA XPC ZBTB16 ZFHX2 ZFYVE19 ZNF699 ZNFX1

Diseases (251) :ORPHA:234 ORPHA:51608 ORPHA:521 ORPHA:134 ORPHA:656 ORPHA:39041 OMIM:102700 OMIM:615688 OMIM:274150 ORPHA:51 ORPHA:33355 ORPHA:57 OMIM:614979 OMIM:241500 ORPHA:822 ORPHA:85408 OMIM:125800 ORPHA:223 ORPHA:333 OMIM:228000 ORPHA:98849 ORPHA:52416 ORPHA:306674 OMIM:602481 ORPHA:255210 ORPHA:30925 OMIM:304800 OMIM:618394 ORPHA:369939 ORPHA:52417 ORPHA:545 ORPHA:520 ORPHA:33110 ORPHA:70567 ORPHA:654 ORPHA:47 ORPHA:797 OMIM:619423 OMIM:613779 ORPHA:117 OMIM:141500 ORPHA:423 OMIM:601887 ORPHA:131 OMIM:254450 ORPHA:824 OMIM:300908 OMIM:180300 ORPHA:169160 OMIM:615122 OMIM:618261 OMIM:260570 OMIM:235400 ORPHA:60033 OMIM:167800 ORPHA:668 ORPHA:486 ORPHA:363523 ORPHA:79333 OMIM:114000 ORPHA:1310 ORPHA:99845 ORPHA:550 OMIM:608836 OMIM:614212 OMIM:614699 OMIM:272430 ORPHA:900 ORPHA:379 OMIM:306400 OMIM:618935 OMIM:203400 OMIM:201910 ORPHA:137675 ORPHA:910 OMIM:619573 OMIM:619858 OMIM:616433 OMIM:614653 OMIM:305100 ORPHA:1667 OMIM:603896 OMIM:162800 ORPHA:2686 OMIM:301074 OMIM:223900 ORPHA:288 OMIM:276700 OMIM:229700 ORPHA:464370 OMIM:619991 OMIM:232300 ORPHA:206436 OMIM:245200 ORPHA:3226 OMIM:233910 ORPHA:324 ORPHA:171 OMIM:619950 ORPHA:86884 OMIM:618398 ORPHA:231214 ORPHA:231226 OMIM:261990 ORPHA:397 ORPHA:29207 ORPHA:36426 ORPHA:3287 ORPHA:747 OMIM:181000 ORPHA:85414 ORPHA:79276 ORPHA:20 OMIM:246450 ORPHA:352665 ORPHA:453504 OMIM:614674 OMIM:615330 OMIM:615846 OMIM:619773 OMIM:618963 OMIM:209950 ORPHA:276 OMIM:614204 ORPHA:169154 ORPHA:93552 ORPHA:3452 OMIM:614893 OMIM:226990 ORPHA:319600 OMIM:613011 OMIM:241200 OMIM:256700 OMIM:617055 OMIM:215600 OMIM:618795 ORPHA:79404 ORPHA:779 ORPHA:3206 OMIM:601559 ORPHA:75233 OMIM:268200 ORPHA:77297 OMIM:609628 ORPHA:167 OMIM:619313 ORPHA:342 OMIM:249100 OMIM:134610 OMIM:608068 ORPHA:3243 ORPHA:563609 ORPHA:563612 OMIM:260920 ORPHA:343 ORPHA:183713 ORPHA:33226 ORPHA:2126 OMIM:618321 OMIM:608654 OMIM:615273 ORPHA:209905 OMIM:616050 OMIM:616115 OMIM:617388 OMIM:611762 ORPHA:1451 OMIM:607115 OMIM:617772 OMIM:120100 ORPHA:47045 OMIM:191900 ORPHA:575 ORPHA:90340 OMIM:617321 ORPHA:642 OMIM:256800 OMIM:612782 OMIM:617099 OMIM:618493 OMIM:614863 OMIM:619802 ORPHA:53035 ORPHA:79318 ORPHA:98916 ORPHA:3455 OMIM:618048 ORPHA:540 OMIM:603553 ORPHA:615 OMIM:615559 OMIM:600072 OMIM:619175 OMIM:617591 OMIM:256040 OMIM:619183 ORPHA:69126 OMIM:619924 OMIM:261640 OMIM:261630 ORPHA:79477 OMIM:607624 ORPHA:331206 ORPHA:88619 OMIM:615895 OMIM:619652 OMIM:618852 ORPHA:420741 OMIM:210710 ORPHA:466794 OMIM:308240 OMIM:300310 ORPHA:3389 OMIM:601678 OMIM:263800 OMIM:607483 ORPHA:168569 OMIM:602782 ORPHA:60025 ORPHA:99843 OMIM:619468 ORPHA:35710 OMIM:242900 OMIM:619475 OMIM:614162 OMIM:618886 ORPHA:2314 OMIM:612783 OMIM:615934 OMIM:603552 OMIM:613101 OMIM:619381 ORPHA:1930 ORPHA:101150 OMIM:301080 OMIM:614727 OMIM:616744 OMIM:142680 ORPHA:32960 OMIM:225750 OMIM:616084 ORPHA:538 OMIM:301054 OMIM:608898 ORPHA:906 OMIM:150550 OMIM:300635 OMIM:147430 OMIM:619849 OMIM:619488 OMIM:619644
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.