Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormality of metabolism/homeostasis (HP:0001939)help
..Starting node
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Abnormality of temperature regulation (HP:0004370)help
Term ID: 4370
Name: Abnormality of temperature regulation
Synonym: Abnormality of temperature regulation; Body temperature changes; Poor temperature regulation
Definition: An abnormality of temperature homeostasis.
Comments:
Reference: HP:0004370
Genes and Diseases:
 
       Child Nodes:
........expandFever (HP:0001945) help
................... HP:0001954 Episodic fever
................... HP:0001955 Unexplained fevers
................... HP:0011134 Low-grade fever
........expandHypothermia (HP:0002045) help
................... HP:0005964 Intermittent hypothermia
........expandHeat intolerance (HP:0002046) help
........expandMalignant hyperthermia (HP:0002047) help
........expandTemperature instability (HP:0005968) help
........expandImpaired thermal sensitivity (HP:0006901) help

 Sister Nodes: 
..expandAbnormal blood ion concentration (HP:0003111) help
..expandAbnormal calcium-phosphate regulating hormone level (HP:0100530) help
..expandAbnormal cellular physiology (HP:0011017) help
..expandAbnormal circulating carbohydrate concentration (HP:0011013) help
..expandAbnormal circulating carboxylic acid concentration (HP:0004354) help
..expandAbnormal circulating lipid concentration (HP:0003119) help
..expandAbnormal circulating nitrogen compound concentration (HP:0004364) help
..expandAbnormal circulating nucleobase concentration (HP:0010932) help
..expandAbnormal circulating porphyrin concentration (HP:0010472) help
..expandAbnormal circulating protein concentration (HP:0010876) help
..expandAbnormal circulating selenium concentration (HP:0031903) help
..expandAbnormal enzyme/coenzyme activity (HP:0012379) help
..expandAbnormal erythrocyte sedimentation rate (HP:0025021) help
..expandAbnormal homeostasis (HP:0012337) help
..expandAbnormal sweat homeostasis (HP:0040127) help
..expandAbnormality of acid-base homeostasis (HP:0004360) help
..expandAbnormality of fluid regulation (HP:0011032) help
..expandAbnormality of Krebs cycle metabolism (HP:0000816) help
..expandAbnormality of superoxide metabolism (HP:0004358) help
..expandAbnormality of urine homeostasis (HP:0003110) help
..expandAbnormality of vitamin metabolism (HP:0100508) help
..expandAmyloidosis (HP:0011034) help
..expandBloodstream infectious agent (HP:0031863) help
..expandFood intolerance (HP:0012537) help
..expandGangrene (HP:0100758) help
..expandHyperbilirubinemia (HP:0002904) help
..expandIncreased level of propylene glycol in blood (HP:0410069) help
..expandKetosis (HP:0001946) help
..expandMolybdenum cofactor deficiency (HP:0003570) help
..expandobsolete Abnormality of glycoprotein metabolism (HP:0004367) help
..expandPresence of xenobiotic (HP:0031838) help
..expandReduced 5-oxoprolinase level (HP:0040142) help
..expandReduced acetaldehyde dehydrogenase level (HP:0003533) help
..expandReduced glutathione synthetase level (HP:0003343) 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:0004370HP:0004370Abnormality of temperature regulation0ABCA12 CL E G H2615414637ORPHA:457Harlequin ichthyosis130
HP:0004370HP:0004370Abnormality of temperature regulation0ABCC2 CL E G H124453ORPHA:234Dubin-Johnson syndrome119
HP:0004370HP:0004370Abnormality of temperature regulation0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancy415
HP:0004370HP:0004370Abnormality of temperature regulation0ABL1 CL E G H2576ORPHA:521Chronic myeloid leukemia51
HP:0004370HP:0004370Abnormality of temperature regulation0ACADSB CL E G H3691OMIM:6100062-Methylbutyryl-Coa dehydrogenase deficiency111
HP:0004370HP:0004370Abnormality of temperature regulation0ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiency200
HP:0004370HP:0004370Abnormality of temperature regulation0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiency91
HP:0004370HP:0004370Abnormality of temperature regulation0ACTN4 CL E G H81166ORPHA:656Genetic steroid-resistant nephrotic syndrome27
HP:0004370HP:0004370Abnormality of temperature regulation0ADA CL E G H100186ORPHA:39041Omenn syndrome75
HP:0004370HP:0004370Abnormality of temperature regulation0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0004370HP:0004370Abnormality of temperature regulation0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0004370HP:0004370Abnormality of temperature regulation0ADAMTS13 CL E G H110931366OMIM:274150Thrombotic thrombocytopenic purpura, hereditary129
HP:0004370HP:0004370Abnormality of temperature regulation0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0004370HP:0004370Abnormality of temperature regulation0AK2 CL E G H204362ORPHA:33355Reticular dysgenesis19
HP:0004370HP:0004370Abnormality of temperature regulation0ALDOA CL E G H226414ORPHA:57Glycogen storage disease due to aldolase A deficiency50
HP:0004370HP:0004370Abnormality of temperature regulation0ALG11 CL E G H44013832456ORPHA:280071ALG11-CDG41
HP:0004370HP:0004370Abnormality of temperature regulation0ALG11 CL E G H44013832456OMIM:613661Congenital disorder of glycosylation, type Ip41
HP:0004370HP:0004370Abnormality of temperature regulation0ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 363
HP:0004370HP:0004370Abnormality of temperature regulation0ALPK1 CL E G H8021620917OMIM:614979Splenomegaly, cytopenia, and vision loss
HP:0004370HP:0004370Abnormality of temperature regulation0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile126
HP:0004370HP:0004370Abnormality of temperature regulation0ANK1 CL E G H286492ORPHA:822Hereditary spherocytosis150
HP:0004370HP:0004370Abnormality of temperature regulation0ANKFY1 CL E G H5147920763ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0004370HP:0004370Abnormality of temperature regulation0ANLN CL E G H5444314082ORPHA:656Genetic steroid-resistant nephrotic syndrome6
HP:0004370HP:0004370Abnormality of temperature regulation0APOL1 CL E G H8542618ORPHA:656Genetic steroid-resistant nephrotic syndrome3
HP:0004370HP:0004370Abnormality of temperature regulation0AQP2 CL E G H359634OMIM:125800Diabetes insipidus, nephrogenic, 275
HP:0004370HP:0004370Abnormality of temperature regulation0AQP2 CL E G H359634ORPHA:223Nephrogenic diabetes insipidus75
HP:0004370HP:0004370Abnormality of temperature regulation0ARHGAP24 CL E G H8347825361ORPHA:656Genetic steroid-resistant nephrotic syndrome4
HP:0004370HP:0004370Abnormality of temperature regulation0ARHGDIA CL E G H396678ORPHA:656Genetic steroid-resistant nephrotic syndrome3
HP:0004370HP:0004370Abnormality of temperature regulation0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0004370HP:0004370Abnormality of temperature regulation0ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0004370HP:0004370Abnormality of temperature regulation0ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis78
HP:0004370HP:0004370Abnormality of temperature regulation0ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasm145
HP:0004370HP:0004370Abnormality of temperature regulation0ATM CL E G H472795ORPHA:52416Mantle cell lymphoma3267
HP:0004370HP:0004370Abnormality of temperature regulation0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndrome100
HP:0004370HP:0004370Abnormality of temperature regulation0ATP1A2 CL E G H477800OMIM:602481Migraine, familial hemiplegic, 2239
HP:0004370HP:0004370Abnormality of temperature regulation0ATP2A1 CL E G H487811OMIM:601003BRODY MYOPATHY80
HP:0004370HP:0004370Abnormality of temperature regulation0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0ATP7A CL E G H538869OMIM:309400Menkes disease192
HP:0004370HP:0004370Abnormality of temperature regulation0ATP7A CL E G H538869ORPHA:565Menkes disease192
HP:0004370HP:0004370Abnormality of temperature regulation0ATP7A CL E G H538869ORPHA:198Occipital horn syndrome192
HP:0004370HP:0004370Abnormality of temperature regulation0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040283 - Occasional14
HP:0004370HP:0004370Abnormality of temperature regulation0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040283 - Occasional14
HP:0004370HP:0004370Abnormality of temperature regulation0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040283 - Occasional14
HP:0004370HP:0004370Abnormality of temperature regulation0AVP CL E G H551894ORPHA:30925Hereditary central diabetes insipidus22
HP:0004370HP:0004370Abnormality of temperature regulation0AVPR2 CL E G H554897OMIM:304800Diabetes insipidus, nephrogenic, X-linked67
HP:0004370HP:0004370Abnormality of temperature regulation0AVPR2 CL E G H554897ORPHA:223Nephrogenic diabetes insipidus67
HP:0004370HP:0004370Abnormality of temperature regulation0BACH2 CL E G H6046814078OMIM:618394IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0004370HP:0004370Abnormality of temperature regulation0BCAP31 CL E G H1013416695ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome8
HP:0004370HP:0004370Abnormality of temperature regulation0BCL10 CL E G H8915989ORPHA:52417MALT lymphoma18
HP:0004370HP:0004370Abnormality of temperature regulation0BCL2 CL E G H596990ORPHA:545Follicular lymphoma1
HP:0004370HP:0004370Abnormality of temperature regulation0BCL6 CL E G H6041001ORPHA:545Follicular lymphoma1
HP:0004370HP:0004370Abnormality of temperature regulation0BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemia101
HP:0004370HP:0004370Abnormality of temperature regulation0BCR CL E G H6131014ORPHA:521Chronic myeloid leukemia5
HP:0004370HP:0004370Abnormality of temperature regulation0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathy99
HP:0004370HP:0004370Abnormality of temperature regulation0BIRC3 CL E G H330591ORPHA:52417MALT lymphoma
HP:0004370HP:0004370Abnormality of temperature regulation0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemia4
HP:0004370HP:0004370Abnormality of temperature regulation0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal20
HP:0004370HP:0004370Abnormality of temperature regulation0BRCA1 CL E G H6721100ORPHA:70567Cholangiocarcinoma5769
HP:0004370HP:0004370Abnormality of temperature regulation0BRCA2 CL E G H6751101ORPHA:70567Cholangiocarcinoma7642
HP:0004370HP:0004370Abnormality of temperature regulation0BRCA2 CL E G H6751101ORPHA:654Nephroblastoma7642
HP:0004370HP:0004370Abnormality of temperature regulation0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemia109
HP:0004370HP:0004370Abnormality of temperature regulation0BTNL2 CL E G H562441142ORPHA:797Sarcoidosis1
HP:0004370HP:0004370Abnormality of temperature regulation0C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0004370HP:0004370Abnormality of temperature regulation0C3 CL E G H7181318OMIM:613779Complement component 3 deficiency, autosomal recessive92
HP:0004370HP:0004370Abnormality of temperature regulation0C4A CL E G H7201323ORPHA:117Behçet disease1
HP:0004370HP:0004370Abnormality of temperature regulation0CACNA1A CL E G H7731388OMIM:141500Migraine, familial hemiplegic, 1449
HP:0004370HP:0004370Abnormality of temperature regulation0CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesia247
HP:0004370HP:0004370Abnormality of temperature regulation0CACNA1S CL E G H7791397OMIM:601887Malignant hyperthermia, susceptibility to, 5247
HP:0004370HP:0004370Abnormality of temperature regulation0CALR CL E G H8111455ORPHA:131Budd-Chiari syndrome1
HP:0004370HP:0004370Abnormality of temperature regulation0CALR CL E G H8111455OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included1
HP:0004370HP:0004370Abnormality of temperature regulation0CALR CL E G H8111455ORPHA:824Primary myelofibrosis1
HP:0004370HP:0004370Abnormality of temperature regulation0CASK CL E G H85731497OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency118
HP:0004370HP:0004370Abnormality of temperature regulation0CCND1 CL E G H5951582ORPHA:52416Mantle cell lymphoma1
HP:0004370HP:0004370Abnormality of temperature regulation0CCR1 CL E G H12301602ORPHA:117Behçet disease
HP:0004370HP:0004370Abnormality of temperature regulation0CD244 CL E G H5174418171OMIM:180300RHEUMATOID ARTHRITIS; RA2
HP:0004370HP:0004370Abnormality of temperature regulation0CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis8
HP:0004370HP:0004370Abnormality of temperature regulation0CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta8
HP:0004370HP:0004370Abnormality of temperature regulation0CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0004370HP:0004370Abnormality of temperature regulation0CD2AP CL E G H2360714258ORPHA:656Genetic steroid-resistant nephrotic syndrome105
HP:0004370HP:0004370Abnormality of temperature regulation0CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta18
HP:0004370HP:0004370Abnormality of temperature regulation0CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta24
HP:0004370HP:0004370Abnormality of temperature regulation0CD70 CL E G H97011937OMIM:618261LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0004370HP:0004370Abnormality of temperature regulation0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemia9
HP:0004370HP:0004370Abnormality of temperature regulation0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemia6
HP:0004370HP:0004370Abnormality of temperature regulation0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephaly200
HP:0004370HP:0004370Abnormality of temperature regulation0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephaly200
HP:0004370HP:0004370Abnormality of temperature regulation0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephaly200
HP:0004370HP:0004370Abnormality of temperature regulation0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephaly200
HP:0004370HP:0004370Abnormality of temperature regulation0CEBPE CL E G H10531836OMIM:260570Pelger-Huet-Like anomaly and episodic fever with abdominal pain3
HP:0004370HP:0004370Abnormality of temperature regulation0CFH CL E G H30754883OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 186
HP:0004370HP:0004370Abnormality of temperature regulation0CFHR1 CL E G H30784888OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0004370HP:0004370Abnormality of temperature regulation0CFHR3 CL E G H1087816980OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0004370HP:0004370Abnormality of temperature regulation0CFTR CL E G H10801884ORPHA:60033Idiopathic bronchiectasis1371
HP:0004370HP:0004370Abnormality of temperature regulation0CFTR CL E G H10801884OMIM:167800Pancreatitis, hereditary1371
HP:0004370HP:0004370Abnormality of temperature regulation0CHD7 CL E G H5563620626ORPHA:39041Omenn syndrome515
HP:0004370HP:0004370Abnormality of temperature regulation0CHEK2 CL E G H1120016627ORPHA:668Osteosarcoma833
HP:0004370HP:0004370Abnormality of temperature regulation0CHRNA1 CL E G H11341955OMIM:253290Multiple pterygium syndrome, Lethal type74
HP:0004370HP:0004370Abnormality of temperature regulation0CHRND CL E G H11441965OMIM:253290Multiple pterygium syndrome, Lethal type88
HP:0004370HP:0004370Abnormality of temperature regulation0CHRNG CL E G H11461967OMIM:253290Multiple pterygium syndrome, Lethal type68
HP:0004370HP:0004370Abnormality of temperature regulation0CIITA CL E G H42617067OMIM:180300RHEUMATOID ARTHRITIS; RA118
HP:0004370HP:0004370Abnormality of temperature regulation0CLCF1 CL E G H2352917412ORPHA:1545Crisponi syndrome6
HP:0004370HP:0004370Abnormality of temperature regulation0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0004370HP:0004370Abnormality of temperature regulation0CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent102
HP:0004370HP:0004370Abnormality of temperature regulation0CLDN10 CL E G H90712033OMIM:617671Helix syndrome3
HP:0004370HP:0004370Abnormality of temperature regulation0CLEC7A CL E G H6458114558ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional3
HP:0004370HP:0004370Abnormality of temperature regulation0CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropenia38
HP:0004370HP:0004370Abnormality of temperature regulation0COA6 CL E G H38875318025OMIM:616501CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX48
HP:0004370HP:0004370Abnormality of temperature regulation0COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome71
HP:0004370HP:0004370Abnormality of temperature regulation0COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0004370HP:0004370Abnormality of temperature regulation0COL1A1 CL E G H12772197ORPHA:1310Caffey disease373
HP:0004370HP:0004370Abnormality of temperature regulation0COL1A1 CL E G H12772197OMIM:114000Caffey disease373
HP:0004370HP:0004370Abnormality of temperature regulation0COL4A3 CL E G H12852204ORPHA:656Genetic steroid-resistant nephrotic syndrome161
HP:0004370HP:0004370Abnormality of temperature regulation0COQ8B CL E G H7993419041ORPHA:656Genetic steroid-resistant nephrotic syndrome35
HP:0004370HP:0004370Abnormality of temperature regulation0COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0004370HP:0004370Abnormality of temperature regulation0COX1 CL E G H45127419ORPHA:550MELAS
HP:0004370HP:0004370Abnormality of temperature regulation0COX2 CL E G H45137421ORPHA:550MELAS
HP:0004370HP:0004370Abnormality of temperature regulation0COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0004370HP:0004370Abnormality of temperature regulation0COX3 CL E G H45147422ORPHA:550MELAS
HP:0004370HP:0004370Abnormality of temperature regulation0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0004370HP:0004370Abnormality of temperature regulation0CPT2 CL E G H13762330OMIM:614212Encephalopathy, acute, infection-induced, susceptibility to, 4101
HP:0004370HP:0004370Abnormality of temperature regulation0CR2 CL E G H13802336OMIM:614699IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID710
HP:0004370HP:0004370Abnormality of temperature regulation0CRB2 CL E G H28620418688ORPHA:656Genetic steroid-resistant nephrotic syndrome12
HP:0004370HP:0004370Abnormality of temperature regulation0CRLF1 CL E G H92442364ORPHA:1545Crisponi syndrome24
HP:0004370HP:0004370Abnormality of temperature regulation0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 124
HP:0004370HP:0004370Abnormality of temperature regulation0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitis10
HP:0004370HP:0004370Abnormality of temperature regulation0CTRC CL E G H113302523OMIM:167800Pancreatitis, hereditary39
HP:0004370HP:0004370Abnormality of temperature regulation0CYBA CL E G H15352577ORPHA:379Chronic granulomatous disease27
HP:0004370HP:0004370Abnormality of temperature regulation0CYBB CL E G H15362578ORPHA:379Chronic granulomatous disease111
HP:0004370HP:0004370Abnormality of temperature regulation0CYBB CL E G H15362578OMIM:306400Chronic granulomatous disease, X-linked111
HP:0004370HP:0004370Abnormality of temperature regulation0CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous disease
HP:0004370HP:0004370Abnormality of temperature regulation0CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0004370HP:0004370Abnormality of temperature regulation0CYP11B2 CL E G H15852592OMIM:203400Corticosterone methyloxidase type I deficiency73
HP:0004370HP:0004370Abnormality of temperature regulation0CYP21A2 CL E G H15892600OMIM:201910Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency86
HP:0004370HP:0004370Abnormality of temperature regulation0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathy
HP:0004370HP:0004370Abnormality of temperature regulation0DAAM2 CL E G H2350018143ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0DBH CL E G H16212689ORPHA:230Dopamine beta-hydroxylase deficiency80
HP:0004370HP:0004370Abnormality of temperature regulation0DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital80
HP:0004370HP:0004370Abnormality of temperature regulation0DCLRE1C CL E G H6442117642ORPHA:39041Omenn syndrome94
HP:0004370HP:0004370Abnormality of temperature regulation0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosum30
HP:0004370HP:0004370Abnormality of temperature regulation0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0004370HP:0004370Abnormality of temperature regulation0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004370HP:0004370Abnormality of temperature regulation0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)57
HP:0004370HP:0004370Abnormality of temperature regulation0DIS3L2 CL E G H12956328648ORPHA:654Nephroblastoma164
HP:0004370HP:0004370Abnormality of temperature regulation0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephaly22
HP:0004370HP:0004370Abnormality of temperature regulation0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephaly22
HP:0004370HP:0004370Abnormality of temperature regulation0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephaly22
HP:0004370HP:0004370Abnormality of temperature regulation0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephaly22
HP:0004370HP:0004370Abnormality of temperature regulation0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephaly3
HP:0004370HP:0004370Abnormality of temperature regulation0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephaly3
HP:0004370HP:0004370Abnormality of temperature regulation0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephaly3
HP:0004370HP:0004370Abnormality of temperature regulation0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephaly3
HP:0004370HP:0004370Abnormality of temperature regulation0DNASE2 CL E G H17772960OMIM:619858
HP:0004370HP:0004370Abnormality of temperature regulation0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathy167
HP:0004370HP:0004370Abnormality of temperature regulation0DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0004370HP:0004370Abnormality of temperature regulation0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0004370HP:0004370Abnormality of temperature regulation0DUOX2 CL E G H5050613273ORPHA:95716Familial thyroid dyshormonogenesis121
HP:0004370HP:0004370Abnormality of temperature regulation0DUOX2 CL E G H5050613273ORPHA:226316Genetic transient congenital hypothyroidism121
HP:0004370HP:0004370Abnormality of temperature regulation0DUOXA2 CL E G H40575332698ORPHA:95716Familial thyroid dyshormonogenesis11
HP:0004370HP:0004370Abnormality of temperature regulation0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked115
HP:0004370HP:0004370Abnormality of temperature regulation0EDAR CL E G H109132895ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia86
HP:0004370HP:0004370Abnormality of temperature regulation0EDAR CL E G H109132895OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant86
HP:0004370HP:0004370Abnormality of temperature regulation0EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive86
HP:0004370HP:0004370Abnormality of temperature regulation0EDARADD CL E G H12817814341ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia56
HP:0004370HP:0004370Abnormality of temperature regulation0EDARADD CL E G H12817814341OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant56
HP:0004370HP:0004370Abnormality of temperature regulation0EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive56
HP:0004370HP:0004370Abnormality of temperature regulation0EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndrome65
HP:0004370HP:0004370Abnormality of temperature regulation0EIF2B1 CL E G H19673257OMIM:603896Leukoencephalopathy with vanishing white matter42
HP:0004370HP:0004370Abnormality of temperature regulation0EIF2B2 CL E G H88923258OMIM:603896Leukoencephalopathy with vanishing white matter24
HP:0004370HP:0004370Abnormality of temperature regulation0EIF2B3 CL E G H88913259OMIM:603896Leukoencephalopathy with vanishing white matter32
HP:0004370HP:0004370Abnormality of temperature regulation0EIF2B4 CL E G H88903260OMIM:603896Leukoencephalopathy with vanishing white matter38
HP:0004370HP:0004370Abnormality of temperature regulation0EIF2B5 CL E G H88933261OMIM:603896Leukoencephalopathy with vanishing white matter48
HP:0004370HP:0004370Abnormality of temperature regulation0ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropenia79
HP:0004370HP:0004370Abnormality of temperature regulation0ELANE CL E G H19913309ORPHA:2686Cyclic neutropenia79
HP:0004370HP:0004370Abnormality of temperature regulation0ELANE CL E G H19913309OMIM:162800Cyclic neutropenia79
HP:0004370HP:0004370Abnormality of temperature regulation0ELF4 CL E G H20003319OMIM:301074AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL21
HP:0004370HP:0004370Abnormality of temperature regulation0ELP1 CL E G H85185959ORPHA:1764Familial dysautonomia133
HP:0004370HP:0004370Abnormality of temperature regulation0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III133
HP:0004370HP:0004370Abnormality of temperature regulation0EMP2 CL E G H20133334ORPHA:656Genetic steroid-resistant nephrotic syndrome4
HP:0004370HP:0004370Abnormality of temperature regulation0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancy151
HP:0004370HP:0004370Abnormality of temperature regulation0EPB41 CL E G H20353377ORPHA:288Hereditary elliptocytosis6
HP:0004370HP:0004370Abnormality of temperature regulation0EPB42 CL E G H20383381ORPHA:822Hereditary spherocytosis51
HP:0004370HP:0004370Abnormality of temperature regulation0ERAP1 CL E G H5175218173ORPHA:117Behçet disease1
HP:0004370HP:0004370Abnormality of temperature regulation0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosum106
HP:0004370HP:0004370Abnormality of temperature regulation0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosum54
HP:0004370HP:0004370Abnormality of temperature regulation0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent158
HP:0004370HP:0004370Abnormality of temperature regulation0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosum158
HP:0004370HP:0004370Abnormality of temperature regulation0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosum83
HP:0004370HP:0004370Abnormality of temperature regulation0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent199
HP:0004370HP:0004370Abnormality of temperature regulation0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent55
HP:0004370HP:0004370Abnormality of temperature regulation0F5 CL E G H21533542ORPHA:131Budd-Chiari syndrome159
HP:0004370HP:0004370Abnormality of temperature regulation0FAH CL E G H21843579OMIM:276700Tyrosinemia, type I107
HP:0004370HP:0004370Abnormality of temperature regulation0FAS CL E G H35511920ORPHA:117Behçet disease59
HP:0004370HP:0004370Abnormality of temperature regulation0FBP1 CL E G H22033606OMIM:229700Fructose-1,6-Bisphosphatase deficiency64
HP:0004370HP:0004370Abnormality of temperature regulation0FCGR3B CL E G H22153620ORPHA:464370Neonatal alloimmune neutropenia5
HP:0004370HP:0004370Abnormality of temperature regulation0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephaly17
HP:0004370HP:0004370Abnormality of temperature regulation0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephaly17
HP:0004370HP:0004370Abnormality of temperature regulation0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephaly17
HP:0004370HP:0004370Abnormality of temperature regulation0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephaly17
HP:0004370HP:0004370Abnormality of temperature regulation0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephaly172
HP:0004370HP:0004370Abnormality of temperature regulation0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephaly172
HP:0004370HP:0004370Abnormality of temperature regulation0FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemia4
HP:0004370HP:0004370Abnormality of temperature regulation0FOCAD CL E G H5491423377OMIM:6199913
HP:0004370HP:0004370Abnormality of temperature regulation0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephaly48
HP:0004370HP:0004370Abnormality of temperature regulation0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephaly48
HP:0004370HP:0004370Abnormality of temperature regulation0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephaly48
HP:0004370HP:0004370Abnormality of temperature regulation0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephaly48
HP:0004370HP:0004370Abnormality of temperature regulation0FOXP1 CL E G H270863823ORPHA:52417MALT lymphoma184
HP:0004370HP:0004370Abnormality of temperature regulation0G6PD CL E G H25394057OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency101
HP:0004370HP:0004370Abnormality of temperature regulation0GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0004370HP:0004370Abnormality of temperature regulation0GABRA2 CL E G H25554076OMIM:618557DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE784
HP:0004370HP:0004370Abnormality of temperature regulation0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0004370HP:0004370Abnormality of temperature regulation0GALC CL E G H25814115OMIM:245200Krabbe disease160
HP:0004370HP:0004370Abnormality of temperature regulation0GAPVD1 CL E G H2613023375ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephaly2
HP:0004370HP:0004370Abnormality of temperature regulation0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephaly2
HP:0004370HP:0004370Abnormality of temperature regulation0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephaly2
HP:0004370HP:0004370Abnormality of temperature regulation0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephaly2
HP:0004370HP:0004370Abnormality of temperature regulation0GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndrome137
HP:0004370HP:0004370Abnormality of temperature regulation0GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B86
HP:0004370HP:0004370Abnormality of temperature regulation0GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropenia56
HP:0004370HP:0004370Abnormality of temperature regulation0GLA CL E G H27174296ORPHA:324Fabry disease291
HP:0004370HP:0004370Abnormality of temperature regulation0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephaly173
HP:0004370HP:0004370Abnormality of temperature regulation0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephaly173
HP:0004370HP:0004370Abnormality of temperature regulation0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephaly173
HP:0004370HP:0004370Abnormality of temperature regulation0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephaly173
HP:0004370HP:0004370Abnormality of temperature regulation0GPC3 CL E G H27194451ORPHA:654Nephroblastoma73
HP:0004370HP:0004370Abnormality of temperature regulation0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitis2
HP:0004370HP:0004370Abnormality of temperature regulation0GYPC CL E G H29954704ORPHA:288Hereditary elliptocytosis5
HP:0004370HP:0004370Abnormality of temperature regulation0H19 CL E G H2831204713ORPHA:654Nephroblastoma4
HP:0004370HP:0004370Abnormality of temperature regulation0H4C5 CL E G H83674790OMIM:619950
HP:0004370HP:0004370Abnormality of temperature regulation0HAVCR2 CL E G H8486818437ORPHA:86884Subcutaneous panniculitis-like T-cell lymphoma
HP:0004370HP:0004370Abnormality of temperature regulation0HAVCR2 CL E G H8486818437OMIM:618398T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0004370HP:0004370Abnormality of temperature regulation0HBB CL E G H30434827ORPHA:231214Beta-thalassemia major580
HP:0004370HP:0004370Abnormality of temperature regulation0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemia580
HP:0004370HP:0004370Abnormality of temperature regulation0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0004370HP:0004370Abnormality of temperature regulation0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0004370HP:0004370Abnormality of temperature regulation0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function21
HP:0004370HP:0004370Abnormality of temperature regulation0HLA-B CL E G H31064932ORPHA:117Behçet disease4
HP:0004370HP:0004370Abnormality of temperature regulation0HLA-B CL E G H31064932ORPHA:397Giant cell arteritis4
HP:0004370HP:0004370Abnormality of temperature regulation0HLA-B CL E G H31064932ORPHA:29207Reactive arthritis4
HP:0004370HP:0004370Abnormality of temperature regulation0HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndrome4
HP:0004370HP:0004370Abnormality of temperature regulation0HLA-B CL E G H31064932ORPHA:3287Takayasu arteritis4
HP:0004370HP:0004370Abnormality of temperature regulation0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitis
HP:0004370HP:0004370Abnormality of temperature regulation0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitis1
HP:0004370HP:0004370Abnormality of temperature regulation0HLA-DRB1 CL E G H31234948ORPHA:747Autoimmune pulmonary alveolar proteinosis2
HP:0004370HP:0004370Abnormality of temperature regulation0HLA-DRB1 CL E G H31234948ORPHA:545Follicular lymphoma2
HP:0004370HP:0004370Abnormality of temperature regulation0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritis2
HP:0004370HP:0004370Abnormality of temperature regulation0HLA-DRB1 CL E G H31234948ORPHA:797Sarcoidosis2
HP:0004370HP:0004370Abnormality of temperature regulation0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 12
HP:0004370HP:0004370Abnormality of temperature regulation0HLA-DRB1 CL E G H31234948ORPHA:85414Systemic-onset juvenile idiopathic arthritis2
HP:0004370HP:0004370Abnormality of temperature regulation0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyria81
HP:0004370HP:0004370Abnormality of temperature regulation0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduria35
HP:0004370HP:0004370Abnormality of temperature regulation0HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency35
HP:0004370HP:0004370Abnormality of temperature regulation0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0004370HP:0004370Abnormality of temperature regulation0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0004370HP:0004370Abnormality of temperature regulation0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0004370HP:0004370Abnormality of temperature regulation0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0004370HP:0004370Abnormality of temperature regulation0HTR1A CL E G H33505286OMIM:614674Periodic fever, menstrual cycle-dependent2
HP:0004370HP:0004370Abnormality of temperature regulation0IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 316
HP:0004370HP:0004370Abnormality of temperature regulation0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0004370HP:0004370Abnormality of temperature regulation0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0004370HP:0004370Abnormality of temperature regulation0IFIH1 CL E G H6413518873OMIM:619773IMMUNODEFICIENCY 95; IMD9528
HP:0004370HP:0004370Abnormality of temperature regulation0IFNG CL E G H34585438OMIM:618963IMMUNODEFICIENCY 69; IMD6923
HP:0004370HP:0004370Abnormality of temperature regulation0IFNGR1 CL E G H34595439ORPHA:117Behçet disease60
HP:0004370HP:0004370Abnormality of temperature regulation0IFNGR1 CL E G H34595439OMIM:209950Immunodeficiency 27A, mycobacteriosis, AR60
HP:0004370HP:0004370Abnormality of temperature regulation0IGH CL E G H34925477ORPHA:545Follicular lymphoma7
HP:0004370HP:0004370Abnormality of temperature regulation0IGH CL E G H34925477ORPHA:52417MALT lymphoma7
HP:0004370HP:0004370Abnormality of temperature regulation0IGH CL E G H34925477ORPHA:52416Mantle cell lymphoma7
HP:0004370HP:0004370Abnormality of temperature regulation0IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemia7
HP:0004370HP:0004370Abnormality of temperature regulation0IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemia3
HP:0004370HP:0004370Abnormality of temperature regulation0IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndrome8
HP:0004370HP:0004370Abnormality of temperature regulation0IL10 CL E G H35865962ORPHA:117Behçet disease2
HP:0004370HP:0004370Abnormality of temperature regulation0IL10 CL E G H35865962OMIM:180300RHEUMATOID ARTHRITIS; RA2
HP:0004370HP:0004370Abnormality of temperature regulation0IL12A CL E G H35925969ORPHA:117Behçet disease
HP:0004370HP:0004370Abnormality of temperature regulation0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet disease
HP:0004370HP:0004370Abnormality of temperature regulation0IL12B CL E G H35935970ORPHA:3287Takayasu arteritis31
HP:0004370HP:0004370Abnormality of temperature regulation0IL17F CL E G H11274416404ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional14
HP:0004370HP:0004370Abnormality of temperature regulation0IL17RA CL E G H237655985ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional196
HP:0004370HP:0004370Abnormality of temperature regulation0IL17RC CL E G H8481818358ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional4
HP:0004370HP:0004370Abnormality of temperature regulation0IL23R CL E G H14923319100ORPHA:117Behçet disease1
HP:0004370HP:0004370Abnormality of temperature regulation0IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis65
HP:0004370HP:0004370Abnormality of temperature regulation0IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0004370HP:0004370Abnormality of temperature regulation0IL2RG CL E G H35616010ORPHA:39041Omenn syndrome48
HP:0004370HP:0004370Abnormality of temperature regulation0IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiency48
HP:0004370HP:0004370Abnormality of temperature regulation0IL36RN CL E G H2652515561OMIM:614204PSORIASIS 14, PUSTULAR; PSORS1451
HP:0004370HP:0004370Abnormality of temperature regulation0IL6 CL E G H35696018ORPHA:85414Systemic-onset juvenile idiopathic arthritis2
HP:0004370HP:0004370Abnormality of temperature regulation0IL6R CL E G H35706019OMIM:618944HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES51
HP:0004370HP:0004370Abnormality of temperature regulation0IL7R CL E G H35756024ORPHA:39041Omenn syndrome94
HP:0004370HP:0004370Abnormality of temperature regulation0IL7R CL E G H35756024ORPHA:169154T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency94
HP:0004370HP:0004370Abnormality of temperature regulation0INF2 CL E G H6442323791ORPHA:656Genetic steroid-resistant nephrotic syndrome135
HP:0004370HP:0004370Abnormality of temperature regulation0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0IRAK1 CL E G H36546112ORPHA:93552Pediatric systemic lupus erythematosus
HP:0004370HP:0004370Abnormality of temperature regulation0IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemia4
HP:0004370HP:0004370Abnormality of temperature regulation0IRF4 CL E G H36626119ORPHA:3452Whipple disease1
HP:0004370HP:0004370Abnormality of temperature regulation0IRF8 CL E G H33945358OMIM:614893IMMUNODEFICIENCY 32A; IMD32A5
HP:0004370HP:0004370Abnormality of temperature regulation0IRF8 CL E G H33945358OMIM:226990Immunodeficiency 32B5
HP:0004370HP:0004370Abnormality of temperature regulation0IRF8 CL E G H33945358ORPHA:319600Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency5
HP:0004370HP:0004370Abnormality of temperature regulation0ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0004370HP:0004370Abnormality of temperature regulation0ITPR2 CL E G H37096181OMIM:106190Anhidrosis, isolated, with normal sweat glands1
HP:0004370HP:0004370Abnormality of temperature regulation0IYD CL E G H38943421071ORPHA:95716Familial thyroid dyshormonogenesis130
HP:0004370HP:0004370Abnormality of temperature regulation0JAK2 CL E G H37176192ORPHA:131Budd-Chiari syndrome57
HP:0004370HP:0004370Abnormality of temperature regulation0JAK2 CL E G H37176192OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included57
HP:0004370HP:0004370Abnormality of temperature regulation0JAK2 CL E G H37176192ORPHA:824Primary myelofibrosis57
HP:0004370HP:0004370Abnormality of temperature regulation0KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 251
HP:0004370HP:0004370Abnormality of temperature regulation0KDF1 CL E G H12669526624ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia1
HP:0004370HP:0004370Abnormality of temperature regulation0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to202
HP:0004370HP:0004370Abnormality of temperature regulation0KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasm327
HP:0004370HP:0004370Abnormality of temperature regulation0KLHL7 CL E G H5597515646OMIM:617055Crisponi/cold-Induced sweating syndrome 342
HP:0004370HP:0004370Abnormality of temperature regulation0KLRC4 CL E G H83026377ORPHA:117Behçet disease
HP:0004370HP:0004370Abnormality of temperature regulation0KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplex110
HP:0004370HP:0004370Abnormality of temperature regulation0KRT14 CL E G H38616416OMIM:161000Naegeli syndrome110
HP:0004370HP:0004370Abnormality of temperature regulation0KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0004370HP:0004370Abnormality of temperature regulation0KRT18 CL E G H38756430OMIM:215600Cirrhosis, familial19
HP:0004370HP:0004370Abnormality of temperature regulation0KRT5 CL E G H38526442ORPHA:79145Dowling-Degos disease173
HP:0004370HP:0004370Abnormality of temperature regulation0KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplex173
HP:0004370HP:0004370Abnormality of temperature regulation0LACC1 CL E G H14481126789OMIM:618795JUVENILE ARTHRITIS; JUVAR1
HP:0004370HP:0004370Abnormality of temperature regulation0LACC1 CL E G H14481126789ORPHA:85414Systemic-onset juvenile idiopathic arthritis1
HP:0004370HP:0004370Abnormality of temperature regulation0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosa116
HP:0004370HP:0004370Abnormality of temperature regulation0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosa167
HP:0004370HP:0004370Abnormality of temperature regulation0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosa135
HP:0004370HP:0004370Abnormality of temperature regulation0LBR CL E G H39306518ORPHA:779Reynolds syndrome70
HP:0004370HP:0004370Abnormality of temperature regulation0LBX1 CL E G H1066016960OMIM:619483CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0004370HP:0004370Abnormality of temperature regulation0LDHA CL E G H39396535ORPHA:284426Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency35
HP:0004370HP:0004370Abnormality of temperature regulation0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function51
HP:0004370HP:0004370Abnormality of temperature regulation0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function43
HP:0004370HP:0004370Abnormality of temperature regulation0LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndrome144
HP:0004370HP:0004370Abnormality of temperature regulation0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0004370HP:0004370Abnormality of temperature regulation0LIG4 CL E G H39816601ORPHA:39041Omenn syndrome88
HP:0004370HP:0004370Abnormality of temperature regulation0LIPA CL E G H39886617ORPHA:75233Wolman disease73
HP:0004370HP:0004370Abnormality of temperature regulation0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophy44
HP:0004370HP:0004370Abnormality of temperature regulation0LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0004370HP:0004370Abnormality of temperature regulation0LPIN1 CL E G H2317513345OMIM:268200Rhabdomyolysis, acute recurrent95
HP:0004370HP:0004370Abnormality of temperature regulation0LPIN2 CL E G H966314450ORPHA:77297Majeed syndrome186
HP:0004370HP:0004370Abnormality of temperature regulation0LPIN2 CL E G H966314450OMIM:609628MAJEED SYNDROME; MJDS186
HP:0004370HP:0004370Abnormality of temperature regulation0LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemia3
HP:0004370HP:0004370Abnormality of temperature regulation0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndrome239
HP:0004370HP:0004370Abnormality of temperature regulation0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0004370HP:0004370Abnormality of temperature regulation0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0004370HP:0004370Abnormality of temperature regulation0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0004370HP:0004370Abnormality of temperature regulation0MAGI2 CL E G H986318957ORPHA:656Genetic steroid-resistant nephrotic syndrome59
HP:0004370HP:0004370Abnormality of temperature regulation0MALT1 CL E G H108926819ORPHA:52417MALT lymphoma6
HP:0004370HP:0004370Abnormality of temperature regulation0MAP2K1 CL E G H56046840OMIM:615279Cardiofaciocutaneous syndrome 3134
HP:0004370HP:0004370Abnormality of temperature regulation0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0004370HP:0004370Abnormality of temperature regulation0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040282 - Frequent22
HP:0004370HP:0004370Abnormality of temperature regulation0MCM10 CL E G H5538818043OMIM:619313IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0004370HP:0004370Abnormality of temperature regulation0MEFV CL E G H42106998ORPHA:117Behçet disease281
HP:0004370HP:0004370Abnormality of temperature regulation0MEFV CL E G H42106998ORPHA:342Familial Mediterranean fever281
HP:0004370HP:0004370Abnormality of temperature regulation0MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0004370HP:0004370Abnormality of temperature regulation0MEFV CL E G H42106998OMIM:134610FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT281
HP:0004370HP:0004370Abnormality of temperature regulation0MEFV CL E G H42106998OMIM:608068NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE281
HP:0004370HP:0004370Abnormality of temperature regulation0MEFV CL E G H42106998ORPHA:3243Sweet syndrome281
HP:0004370HP:0004370Abnormality of temperature regulation0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0004370HP:0004370Abnormality of temperature regulation0MIF CL E G H42827097ORPHA:85414Systemic-onset juvenile idiopathic arthritis1
HP:0004370HP:0004370Abnormality of temperature regulation0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0004370HP:0004370Abnormality of temperature regulation0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0MLX CL E G H694511645ORPHA:3287Takayasu arteritis
HP:0004370HP:0004370Abnormality of temperature regulation0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblC101
HP:0004370HP:0004370Abnormality of temperature regulation0MPL CL E G H43527217OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included97
HP:0004370HP:0004370Abnormality of temperature regulation0MPL CL E G H43527217ORPHA:824Primary myelofibrosis97
HP:0004370HP:0004370Abnormality of temperature regulation0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitis1
HP:0004370HP:0004370Abnormality of temperature regulation0MTHFR CL E G H45247436ORPHA:563609Isolated anencephaly183
HP:0004370HP:0004370Abnormality of temperature regulation0MTHFR CL E G H45247436ORPHA:563612Isolated exencephaly183
HP:0004370HP:0004370Abnormality of temperature regulation0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathy7
HP:0004370HP:0004370Abnormality of temperature regulation0MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0004370HP:0004370Abnormality of temperature regulation0MVK CL E G H45987530ORPHA:343Hyperimmunoglobulinemia D with periodic fever150
HP:0004370HP:0004370Abnormality of temperature regulation0MYD88 CL E G H46157562ORPHA:183713Bacterial susceptibility due to TLR signaling pathway deficiency9
HP:0004370HP:0004370Abnormality of temperature regulation0MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemia9
HP:0004370HP:0004370Abnormality of temperature regulation0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathy19
HP:0004370HP:0004370Abnormality of temperature regulation0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A166
HP:0004370HP:0004370Abnormality of temperature regulation0MYH3 CL E G H46217573ORPHA:2053Freeman-Sheldon syndrome166
HP:0004370HP:0004370Abnormality of temperature regulation0MYO1E CL E G H46437599ORPHA:656Genetic steroid-resistant nephrotic syndrome3
HP:0004370HP:0004370Abnormality of temperature regulation0MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0004370HP:0004370Abnormality of temperature regulation0NAB2 CL E G H46657627ORPHA:2126Solitary fibrous tumor/hemangiopericytoma
HP:0004370HP:0004370Abnormality of temperature regulation0NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemia
HP:0004370HP:0004370Abnormality of temperature regulation0NALCN CL E G H25923219082ORPHA:2053Freeman-Sheldon syndrome48
HP:0004370HP:0004370Abnormality of temperature regulation0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0004370HP:0004370Abnormality of temperature regulation0NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous disease13
HP:0004370HP:0004370Abnormality of temperature regulation0NCF2 CL E G H46887661ORPHA:379Chronic granulomatous disease67
HP:0004370HP:0004370Abnormality of temperature regulation0NCF4 CL E G H46897662ORPHA:379Chronic granulomatous disease37
HP:0004370HP:0004370Abnormality of temperature regulation0ND1 CL E G H45357455ORPHA:550MELAS
HP:0004370HP:0004370Abnormality of temperature regulation0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0ND4 CL E G H45387459ORPHA:550MELAS
HP:0004370HP:0004370Abnormality of temperature regulation0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0ND5 CL E G H45407461ORPHA:550MELAS
HP:0004370HP:0004370Abnormality of temperature regulation0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0ND6 CL E G H45417462ORPHA:550MELAS
HP:0004370HP:0004370Abnormality of temperature regulation0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 17
HP:0004370HP:0004370Abnormality of temperature regulation0NFKBIA CL E G H47927797OMIM:612132ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT27
HP:0004370HP:0004370Abnormality of temperature regulation0NFKBIL1 CL E G H47957800OMIM:180300RHEUMATOID ARTHRITIS; RA1
HP:0004370HP:0004370Abnormality of temperature regulation0NGF CL E G H48037808OMIM:608654Neuropathy, hereditary sensory and autonomic, type V20
HP:0004370HP:0004370Abnormality of temperature regulation0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0004370HP:0004370Abnormality of temperature regulation0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndrome51
HP:0004370HP:0004370Abnormality of temperature regulation0NLRC4 CL E G H5848416412OMIM:616050AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC30
HP:0004370HP:0004370Abnormality of temperature regulation0NLRC4 CL E G H5848416412OMIM:616115FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS430
HP:0004370HP:0004370Abnormality of temperature regulation0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0004370HP:0004370Abnormality of temperature regulation0NLRP12 CL E G H9166222938OMIM:611762Familial cold autoinflammatory syndrome 299
HP:0004370HP:0004370Abnormality of temperature regulation0NLRP3 CL E G H11454816400ORPHA:1451CINCA syndrome217
HP:0004370HP:0004370Abnormality of temperature regulation0NLRP3 CL E G H11454816400OMIM:607115CINCA SYNDROME; CINCA217
HP:0004370HP:0004370Abnormality of temperature regulation0NLRP3 CL E G H11454816400OMIM:617772Deafness, autosomal dominant 34, with or without inflammation217
HP:0004370HP:0004370Abnormality of temperature regulation0NLRP3 CL E G H11454816400OMIM:120100FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1217
HP:0004370HP:0004370Abnormality of temperature regulation0NLRP3 CL E G H11454816400ORPHA:47045Familial cold urticaria217
HP:0004370HP:0004370Abnormality of temperature regulation0NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndrome217
HP:0004370HP:0004370Abnormality of temperature regulation0NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome217
HP:0004370HP:0004370Abnormality of temperature regulation0NOD2 CL E G H641275331ORPHA:90340Blau syndrome187
HP:0004370HP:0004370Abnormality of temperature regulation0NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0004370HP:0004370Abnormality of temperature regulation0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephaly45
HP:0004370HP:0004370Abnormality of temperature regulation0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephaly45
HP:0004370HP:0004370Abnormality of temperature regulation0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephaly45
HP:0004370HP:0004370Abnormality of temperature regulation0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephaly45
HP:0004370HP:0004370Abnormality of temperature regulation0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0004370HP:0004370Abnormality of temperature regulation0NPHS1 CL E G H48687908ORPHA:656Genetic steroid-resistant nephrotic syndrome241
HP:0004370HP:0004370Abnormality of temperature regulation0NPHS2 CL E G H782713394ORPHA:656Genetic steroid-resistant nephrotic syndrome69
HP:0004370HP:0004370Abnormality of temperature regulation0NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemia12
HP:0004370HP:0004370Abnormality of temperature regulation0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0004370HP:0004370Abnormality of temperature regulation0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis97
HP:0004370HP:0004370Abnormality of temperature regulation0NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemia
HP:0004370HP:0004370Abnormality of temperature regulation0NUP107 CL E G H5712229914ORPHA:656Genetic steroid-resistant nephrotic syndrome5
HP:0004370HP:0004370Abnormality of temperature regulation0NUP133 CL E G H5574618016ORPHA:656Genetic steroid-resistant nephrotic syndrome1
HP:0004370HP:0004370Abnormality of temperature regulation0NUP160 CL E G H2327918017ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0NUP205 CL E G H2316518658ORPHA:656Genetic steroid-resistant nephrotic syndrome1
HP:0004370HP:0004370Abnormality of temperature regulation0NUP37 CL E G H7902329929ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0NUP85 CL E G H799028734ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0NUP93 CL E G H968828958ORPHA:656Genetic steroid-resistant nephrotic syndrome5
HP:0004370HP:0004370Abnormality of temperature regulation0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion121
HP:0004370HP:0004370Abnormality of temperature regulation0ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 919
HP:0004370HP:0004370Abnormality of temperature regulation0OTULIN CL E G H9026825118OMIM:617099AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS3
HP:0004370HP:0004370Abnormality of temperature regulation0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritis3
HP:0004370HP:0004370Abnormality of temperature regulation0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities.
HP:0004370HP:0004370Abnormality of temperature regulation0PAX2 CL E G H50768616ORPHA:656Genetic steroid-resistant nephrotic syndrome39
HP:0004370HP:0004370Abnormality of temperature regulation0PAX8 CL E G H78498622OMIM:218700Hypothyroidism, congenital, nongoitrous, 263
HP:0004370HP:0004370Abnormality of temperature regulation0PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B98
HP:0004370HP:0004370Abnormality of temperature regulation0PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0004370HP:0004370Abnormality of temperature regulation0PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease.86
HP:0004370HP:0004370Abnormality of temperature regulation0PIK3CG CL E G H52948978OMIM:619802IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD972
HP:0004370HP:0004370Abnormality of temperature regulation0PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemia43
HP:0004370HP:0004370Abnormality of temperature regulation0PKHD1 CL E G H53149016ORPHA:53035Caroli disease563
HP:0004370HP:0004370Abnormality of temperature regulation0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophy133
HP:0004370HP:0004370Abnormality of temperature regulation0PLCE1 CL E G H5119617175ORPHA:656Genetic steroid-resistant nephrotic syndrome118
HP:0004370HP:0004370Abnormality of temperature regulation0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephaly
HP:0004370HP:0004370Abnormality of temperature regulation0PML CL E G H53719113ORPHA:520Acute promyelocytic leukemia3
HP:0004370HP:0004370Abnormality of temperature regulation0PMM2 CL E G H53739115ORPHA:79318PMM2-CDG150
HP:0004370HP:0004370Abnormality of temperature regulation0PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathy79
HP:0004370HP:0004370Abnormality of temperature regulation0POFUT1 CL E G H2350914988ORPHA:79145Dowling-Degos disease2
HP:0004370HP:0004370Abnormality of temperature regulation0POGLUT1 CL E G H5698322954ORPHA:79145Dowling-Degos disease6
HP:0004370HP:0004370Abnormality of temperature regulation0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0004370HP:0004370Abnormality of temperature regulation0POMP CL E G H5137120330OMIM:618048Proteasome-Associated autoinflammatory syndrome 22
HP:0004370HP:0004370Abnormality of temperature regulation0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function36
HP:0004370HP:0004370Abnormality of temperature regulation0POU6F2 CL E G H1128121694ORPHA:654Nephroblastoma2
HP:0004370HP:0004370Abnormality of temperature regulation0PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosis58
HP:0004370HP:0004370Abnormality of temperature regulation0PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 258
HP:0004370HP:0004370Abnormality of temperature regulation0PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemia134
HP:0004370HP:0004370Abnormality of temperature regulation0PRKAR1A CL E G H55739388ORPHA:615Familial atrial myxoma134
HP:0004370HP:0004370Abnormality of temperature regulation0PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0004370HP:0004370Abnormality of temperature regulation0PRNP CL E G H56219449OMIM:600072Fatal familial insomnia69
HP:0004370HP:0004370Abnormality of temperature regulation0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function54
HP:0004370HP:0004370Abnormality of temperature regulation0PRSS1 CL E G H56449475OMIM:167800Pancreatitis, hereditary51
HP:0004370HP:0004370Abnormality of temperature regulation0PRSS2 CL E G H56459483OMIM:167800Pancreatitis, hereditary1
HP:0004370HP:0004370Abnormality of temperature regulation0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitis
HP:0004370HP:0004370Abnormality of temperature regulation0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0004370HP:0004370Abnormality of temperature regulation0PSENEN CL E G H5585130100ORPHA:79145Dowling-Degos disease2
HP:0004370HP:0004370Abnormality of temperature regulation0PSMB10 CL E G H56999538OMIM:619175PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0004370HP:0004370Abnormality of temperature regulation0PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3
HP:0004370HP:0004370Abnormality of temperature regulation0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0004370HP:0004370Abnormality of temperature regulation0PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3
HP:0004370HP:0004370Abnormality of temperature regulation0PSMG2 CL E G H5698424929OMIM:619183PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0004370HP:0004370Abnormality of temperature regulation0PSTPIP1 CL E G H90519580ORPHA:69126Pyogenic arthritis-pyoderma gangrenosum-acne syndrome96
HP:0004370HP:0004370Abnormality of temperature regulation0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephaly665
HP:0004370HP:0004370Abnormality of temperature regulation0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephaly665
HP:0004370HP:0004370Abnormality of temperature regulation0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephaly665
HP:0004370HP:0004370Abnormality of temperature regulation0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephaly665
HP:0004370HP:0004370Abnormality of temperature regulation0PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0004370HP:0004370Abnormality of temperature regulation0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritis3
HP:0004370HP:0004370Abnormality of temperature regulation0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitis3
HP:0004370HP:0004370Abnormality of temperature regulation0PTPN22 CL E G H261919652OMIM:180300RHEUMATOID ARTHRITIS; RA3
HP:0004370HP:0004370Abnormality of temperature regulation0PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis3
HP:0004370HP:0004370Abnormality of temperature regulation0PTPN3 CL E G H57749655ORPHA:70567Cholangiocarcinoma1
HP:0004370HP:0004370Abnormality of temperature regulation0PTPRC CL E G H57889666OMIM:61992425
HP:0004370HP:0004370Abnormality of temperature regulation0PTPRO CL E G H58009678ORPHA:656Genetic steroid-resistant nephrotic syndrome2
HP:0004370HP:0004370Abnormality of temperature regulation0PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A19
HP:0004370HP:0004370Abnormality of temperature regulation0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C43
HP:0004370HP:0004370Abnormality of temperature regulation0RAB27A CL E G H58739766ORPHA:79477Griscelli syndrome type 267
HP:0004370HP:0004370Abnormality of temperature regulation0RAB27A CL E G H58739766OMIM:607624Griscelli syndrome, type 267
HP:0004370HP:0004370Abnormality of temperature regulation0RAG1 CL E G H58969831ORPHA:39041Omenn syndrome127
HP:0004370HP:0004370Abnormality of temperature regulation0RAG1 CL E G H58969831ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiency127
HP:0004370HP:0004370Abnormality of temperature regulation0RAG2 CL E G H58979832ORPHA:39041Omenn syndrome50
HP:0004370HP:0004370Abnormality of temperature regulation0RAG2 CL E G H58979832ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiency50
HP:0004370HP:0004370Abnormality of temperature regulation0RANBP2 CL E G H59039848ORPHA:88619Familial acute necrotizing encephalopathy57
HP:0004370HP:0004370Abnormality of temperature regulation0RARA CL E G H59149864ORPHA:520Acute promyelocytic leukemia2
HP:0004370HP:0004370Abnormality of temperature regulation0RB1 CL E G H59259884ORPHA:668Osteosarcoma365
HP:0004370HP:0004370Abnormality of temperature regulation0RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency10
HP:0004370HP:0004370Abnormality of temperature regulation0REL CL E G H59669954OMIM:619652IMMUNODEFICIENCY 92; IMD921
HP:0004370HP:0004370Abnormality of temperature regulation0REST CL E G H59789966ORPHA:654Nephroblastoma7
HP:0004370HP:0004370Abnormality of temperature regulation0RIPK1 CL E G H873710019OMIM:618852AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0004370HP:0004370Abnormality of temperature regulation0RMRP CL E G H602310031ORPHA:39041Omenn syndrome37
HP:0004370HP:0004370Abnormality of temperature regulation0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0004370HP:0004370Abnormality of temperature regulation0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0004370HP:0004370Abnormality of temperature regulation0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0004370HP:0004370Abnormality of temperature regulation0RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndrome7
HP:0004370HP:0004370Abnormality of temperature regulation0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0004370HP:0004370Abnormality of temperature regulation0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0RUNX1 CL E G H86110471ORPHA:521Chronic myeloid leukemia181
HP:0004370HP:0004370Abnormality of temperature regulation0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathy1200
HP:0004370HP:0004370Abnormality of temperature regulation0RYR1 CL E G H626110483ORPHA:597Central core disease1200
HP:0004370HP:0004370Abnormality of temperature regulation0RYR1 CL E G H626110483OMIM:117000Central core disease1200
HP:0004370HP:0004370Abnormality of temperature regulation0RYR1 CL E G H626110483ORPHA:424107Congenital myopathy with myasthenic-like onset1200
HP:0004370HP:0004370Abnormality of temperature regulation0RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermia1200
HP:0004370HP:0004370Abnormality of temperature regulation0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0004370HP:0004370Abnormality of temperature regulation0RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesia1200
HP:0004370HP:0004370Abnormality of temperature regulation0RYR1 CL E G H626110483OMIM:145600Malignant hyperthermia, susceptibility to, 11200
HP:0004370HP:0004370Abnormality of temperature regulation0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0004370HP:0004370Abnormality of temperature regulation0SCN10A CL E G H633610582ORPHA:90026Primary erythromelalgia146
HP:0004370HP:0004370Abnormality of temperature regulation0SCN11A CL E G H1128010583ORPHA:90026Primary erythromelalgia19
HP:0004370HP:0004370Abnormality of temperature regulation0SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysis263
HP:0004370HP:0004370Abnormality of temperature regulation0SCN5A CL E G H633110593OMIM:272120Sudden infant death syndrome1134
HP:0004370HP:0004370Abnormality of temperature regulation0SCN9A CL E G H633510597ORPHA:90026Primary erythromelalgia318
HP:0004370HP:0004370Abnormality of temperature regulation0SCNN1A CL E G H633710599ORPHA:60033Idiopathic bronchiectasis67
HP:0004370HP:0004370Abnormality of temperature regulation0SCNN1B CL E G H633810600ORPHA:60033Idiopathic bronchiectasis61
HP:0004370HP:0004370Abnormality of temperature regulation0SCNN1G CL E G H634010602ORPHA:60033Idiopathic bronchiectasis57
HP:0004370HP:0004370Abnormality of temperature regulation0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0004370HP:0004370Abnormality of temperature regulation0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitis
HP:0004370HP:0004370Abnormality of temperature regulation0SH2B3 CL E G H1001929605OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included4
HP:0004370HP:0004370Abnormality of temperature regulation0SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0004370HP:0004370Abnormality of temperature regulation0SH3KBP1 CL E G H3001113867OMIM:300310Immunodeficiency 612
HP:0004370HP:0004370Abnormality of temperature regulation0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0004370HP:0004370Abnormality of temperature regulation0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephaly67
HP:0004370HP:0004370Abnormality of temperature regulation0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephaly67
HP:0004370HP:0004370Abnormality of temperature regulation0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephaly67
HP:0004370HP:0004370Abnormality of temperature regulation0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephaly67
HP:0004370HP:0004370Abnormality of temperature regulation0SHQ1 CL E G H5516425543OMIM:619922
HP:0004370HP:0004370Abnormality of temperature regulation0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephaly32
HP:0004370HP:0004370Abnormality of temperature regulation0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephaly32
HP:0004370HP:0004370Abnormality of temperature regulation0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0004370HP:0004370Abnormality of temperature regulation0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephaly32
HP:0004370HP:0004370Abnormality of temperature regulation0SLC11A1 CL E G H655610907ORPHA:3389Tuberculosis2
HP:0004370HP:0004370Abnormality of temperature regulation0SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal75
HP:0004370HP:0004370Abnormality of temperature regulation0SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0004370HP:0004370Abnormality of temperature regulation0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 22
HP:0004370HP:0004370Abnormality of temperature regulation0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0004370HP:0004370Abnormality of temperature regulation0SLC22A4 CL E G H658310968OMIM:180300RHEUMATOID ARTHRITIS; RA3
HP:0004370HP:0004370Abnormality of temperature regulation0SLC25A19 CL E G H6038614409ORPHA:99742Amish lethal microcephaly36
HP:0004370HP:0004370Abnormality of temperature regulation0SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiency40
HP:0004370HP:0004370Abnormality of temperature regulation0SLC29A3 CL E G H5531523096ORPHA:168569H syndrome68
HP:0004370HP:0004370Abnormality of temperature regulation0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0004370HP:0004370Abnormality of temperature regulation0SLC34A2 CL E G H1056811020ORPHA:60025Pulmonary alveolar microlithiasis7
HP:0004370HP:0004370Abnormality of temperature regulation0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type II71
HP:0004370HP:0004370Abnormality of temperature regulation0SLC41A1 CL E G H25442819429OMIM:619468NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0004370HP:0004370Abnormality of temperature regulation0SLC4A1 CL E G H652111027ORPHA:822Hereditary spherocytosis109
HP:0004370HP:0004370Abnormality of temperature regulation0SLC52A1 CL E G H5506530225OMIM:615026Riboflavin deficiency3
HP:0004370HP:0004370Abnormality of temperature regulation0SLC5A1 CL E G H652311036ORPHA:35710Glucose-galactose malabsorption74
HP:0004370HP:0004370Abnormality of temperature regulation0SLC5A5 CL E G H652811040ORPHA:95716Familial thyroid dyshormonogenesis59
HP:0004370HP:0004370Abnormality of temperature regulation0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0004370HP:0004370Abnormality of temperature regulation0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephaly135
HP:0004370HP:0004370Abnormality of temperature regulation0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent2
HP:0004370HP:0004370Abnormality of temperature regulation0SPINK1 CL E G H669011244OMIM:167800Pancreatitis, hereditary34
HP:0004370HP:0004370Abnormality of temperature regulation0SPP1 CL E G H669611255ORPHA:93552Pediatric systemic lupus erythematosus
HP:0004370HP:0004370Abnormality of temperature regulation0SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiency28
HP:0004370HP:0004370Abnormality of temperature regulation0SPTA1 CL E G H670811272ORPHA:288Hereditary elliptocytosis228
HP:0004370HP:0004370Abnormality of temperature regulation0SPTA1 CL E G H670811272ORPHA:822Hereditary spherocytosis228
HP:0004370HP:0004370Abnormality of temperature regulation0SPTB CL E G H671011274ORPHA:288Hereditary elliptocytosis156
HP:0004370HP:0004370Abnormality of temperature regulation0SPTB CL E G H671011274ORPHA:822Hereditary spherocytosis156
HP:0004370HP:0004370Abnormality of temperature regulation0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004370HP:0004370Abnormality of temperature regulation0SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropenia
HP:0004370HP:0004370Abnormality of temperature regulation0SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasm1
HP:0004370HP:0004370Abnormality of temperature regulation0STAC3 CL E G H24632928423OMIM:255995Myopathy, congenital, bailey-bloch14
HP:0004370HP:0004370Abnormality of temperature regulation0STAC3 CL E G H24632928423ORPHA:168572Native American myopathy14
HP:0004370HP:0004370Abnormality of temperature regulation0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephaly1
HP:0004370HP:0004370Abnormality of temperature regulation0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephaly1
HP:0004370HP:0004370Abnormality of temperature regulation0STAT1 CL E G H677211362OMIM:614162Immunodeficiency 31C89
HP:0004370HP:0004370Abnormality of temperature regulation0STAT2 CL E G H677311363OMIM:618886PSEUDO-TORCH SYNDROME 3; PTORCH39
HP:0004370HP:0004370Abnormality of temperature regulation0STAT3 CL E G H677411364ORPHA:520Acute promyelocytic leukemia110
HP:0004370HP:0004370Abnormality of temperature regulation0STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndrome110
HP:0004370HP:0004370Abnormality of temperature regulation0STAT4 CL E G H677511365ORPHA:117Behçet disease2
HP:0004370HP:0004370Abnormality of temperature regulation0STAT4 CL E G H677511365ORPHA:93552Pediatric systemic lupus erythematosus2
HP:0004370HP:0004370Abnormality of temperature regulation0STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis2
HP:0004370HP:0004370Abnormality of temperature regulation0STAT5B CL E G H677711367ORPHA:520Acute promyelocytic leukemia12
HP:0004370HP:0004370Abnormality of temperature regulation0STAT6 CL E G H677811368ORPHA:2126Solitary fibrous tumor/hemangiopericytoma1
HP:0004370HP:0004370Abnormality of temperature regulation0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephaly99
HP:0004370HP:0004370Abnormality of temperature regulation0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephaly99
HP:0004370HP:0004370Abnormality of temperature regulation0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephaly99
HP:0004370HP:0004370Abnormality of temperature regulation0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephaly99
HP:0004370HP:0004370Abnormality of temperature regulation0STIM1 CL E G H678611386OMIM:612783Immunodeficiency 1031
HP:0004370HP:0004370Abnormality of temperature regulation0STING1 CL E G H34006127962OMIM:615934STING-associated vasculopathy, infantile-onset
HP:0004370HP:0004370Abnormality of temperature regulation0STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosis85
HP:0004370HP:0004370Abnormality of temperature regulation0STX11 CL E G H867611429OMIM:603552HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL485
HP:0004370HP:0004370Abnormality of temperature regulation0STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosis70
HP:0004370HP:0004370Abnormality of temperature regulation0STXBP2 CL E G H681311445OMIM:613101HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL570
HP:0004370HP:0004370Abnormality of temperature regulation0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduria60
HP:0004370HP:0004370Abnormality of temperature regulation0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0004370HP:0004370Abnormality of temperature regulation0SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0004370HP:0004370Abnormality of temperature regulation0TBC1D8B CL E G H5488524715ORPHA:656Genetic steroid-resistant nephrotic syndrome1
HP:0004370HP:0004370Abnormality of temperature regulation0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0004370HP:0004370Abnormality of temperature regulation0TBK1 CL E G H2911011584ORPHA:1930Herpes simplex virus encephalitis20
HP:0004370HP:0004370Abnormality of temperature regulation0TBL1XR1 CL E G H7971829529ORPHA:520Acute promyelocytic leukemia22
HP:0004370HP:0004370Abnormality of temperature regulation0TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndromeHP:0040281 - Very frequent100
HP:0004370HP:0004370Abnormality of temperature regulation0TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemia2
HP:0004370HP:0004370Abnormality of temperature regulation0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitis241
HP:0004370HP:0004370Abnormality of temperature regulation0TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropenia82
HP:0004370HP:0004370Abnormality of temperature regulation0TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent82
HP:0004370HP:0004370Abnormality of temperature regulation0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephaly1
HP:0004370HP:0004370Abnormality of temperature regulation0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephaly1
HP:0004370HP:0004370Abnormality of temperature regulation0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephaly1
HP:0004370HP:0004370Abnormality of temperature regulation0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephaly1
HP:0004370HP:0004370Abnormality of temperature regulation0TET2 CL E G H5479025941ORPHA:824Primary myelofibrosis3
HP:0004370HP:0004370Abnormality of temperature regulation0TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasm3
HP:0004370HP:0004370Abnormality of temperature regulation0TG CL E G H703811764ORPHA:95716Familial thyroid dyshormonogenesis155
HP:0004370HP:0004370Abnormality of temperature regulation0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephaly32
HP:0004370HP:0004370Abnormality of temperature regulation0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephaly32
HP:0004370HP:0004370Abnormality of temperature regulation0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0004370HP:0004370Abnormality of temperature regulation0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephaly32
HP:0004370HP:0004370Abnormality of temperature regulation0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystonia80
HP:0004370HP:0004370Abnormality of temperature regulation0TICAM1 CL E G H14802218348ORPHA:1930Herpes simplex virus encephalitis6
HP:0004370HP:0004370Abnormality of temperature regulation0TLR3 CL E G H709811849ORPHA:1930Herpes simplex virus encephalitis3
HP:0004370HP:0004370Abnormality of temperature regulation0TLR4 CL E G H709911850ORPHA:117Behçet disease3
HP:0004370HP:0004370Abnormality of temperature regulation0TLR7 CL E G H5128415631OMIM:301080
HP:0004370HP:0004370Abnormality of temperature regulation0TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK24
HP:0004370HP:0004370Abnormality of temperature regulation0TNFAIP3 CL E G H712811896OMIM:616744AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL26
HP:0004370HP:0004370Abnormality of temperature regulation0TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0004370HP:0004370Abnormality of temperature regulation0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndrome131
HP:0004370HP:0004370Abnormality of temperature regulation0TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent44
HP:0004370HP:0004370Abnormality of temperature regulation0TP53 CL E G H715711998ORPHA:668Osteosarcoma911
HP:0004370HP:0004370Abnormality of temperature regulation0TPO CL E G H717312015ORPHA:95716Familial thyroid dyshormonogenesis92
HP:0004370HP:0004370Abnormality of temperature regulation0TRAF3 CL E G H718712033ORPHA:1930Herpes simplex virus encephalitis2
HP:0004370HP:0004370Abnormality of temperature regulation0TRAF3IP2 CL E G H107581343ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional4
HP:0004370HP:0004370Abnormality of temperature regulation0TRAF6 CL E G H718912036ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia
HP:0004370HP:0004370Abnormality of temperature regulation0TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome158
HP:0004370HP:0004370Abnormality of temperature regulation0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0004370HP:0004370Abnormality of temperature regulation0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0004370HP:0004370Abnormality of temperature regulation0TRIM28 CL E G H1015516384ORPHA:654Nephroblastoma2
HP:0004370HP:0004370Abnormality of temperature regulation0TRIP13 CL E G H931912307ORPHA:654Nephroblastoma2
HP:0004370HP:0004370Abnormality of temperature regulation0TRNF CL E G H45587481ORPHA:550MELAS
HP:0004370HP:0004370Abnormality of temperature regulation0TRNH CL E G H45647487ORPHA:550MELAS
HP:0004370HP:0004370Abnormality of temperature regulation0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0TRNL1 CL E G H45677490ORPHA:550MELAS
HP:0004370HP:0004370Abnormality of temperature regulation0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0TRNQ CL E G H45727495ORPHA:550MELAS
HP:0004370HP:0004370Abnormality of temperature regulation0TRNS1 CL E G H45747497ORPHA:550MELAS
HP:0004370HP:0004370Abnormality of temperature regulation0TRNS2 CL E G H45757498ORPHA:550MELAS
HP:0004370HP:0004370Abnormality of temperature regulation0TRNT1 CL E G H5109517341OMIM:616084SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD28
HP:0004370HP:0004370Abnormality of temperature regulation0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0TRNW CL E G H45787501ORPHA:550MELAS
HP:0004370HP:0004370Abnormality of temperature regulation0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0TRPC6 CL E G H722512338ORPHA:656Genetic steroid-resistant nephrotic syndrome107
HP:0004370HP:0004370Abnormality of temperature regulation0TSC1 CL E G H724812362ORPHA:538Lymphangioleiomyomatosis1090
HP:0004370HP:0004370Abnormality of temperature regulation0TSC2 CL E G H724912363ORPHA:538Lymphangioleiomyomatosis2738
HP:0004370HP:0004370Abnormality of temperature regulation0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiency9
HP:0004370HP:0004370Abnormality of temperature regulation0TSHR CL E G H725312373ORPHA:90673Hypothyroidism due to TSH receptor mutations97
HP:0004370HP:0004370Abnormality of temperature regulation0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystonia2
HP:0004370HP:0004370Abnormality of temperature regulation0TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome1
HP:0004370HP:0004370Abnormality of temperature regulation0TSPYL1 CL E G H725912382ORPHA:168593Sudden infant death-dysgenesis of the testes syndrome1
HP:0004370HP:0004370Abnormality of temperature regulation0UBA1 CL E G H731712469OMIM:301054VEXAS SYNDROME; VEXAS35
HP:0004370HP:0004370Abnormality of temperature regulation0UBAC2 CL E G H33786720486ORPHA:117Behçet disease
HP:0004370HP:0004370Abnormality of temperature regulation0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutation278
HP:0004370HP:0004370Abnormality of temperature regulation0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion278
HP:0004370HP:0004370Abnormality of temperature regulation0UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15278
HP:0004370HP:0004370Abnormality of temperature regulation0UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosis116
HP:0004370HP:0004370Abnormality of temperature regulation0UNC13D CL E G H20129423147OMIM:608898HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3116
HP:0004370HP:0004370Abnormality of temperature regulation0UNC93B1 CL E G H8162213481ORPHA:1930Herpes simplex virus encephalitis5
HP:0004370HP:0004370Abnormality of temperature regulation0UQCRFS1 CL E G H738612587OMIM:618775MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0004370HP:0004370Abnormality of temperature regulation0VANGL2 CL E G H5721615511ORPHA:563609Isolated anencephaly2
HP:0004370HP:0004370Abnormality of temperature regulation0VANGL2 CL E G H5721615511ORPHA:563612Isolated exencephaly2
HP:0004370HP:0004370Abnormality of temperature regulation0VPS11 CL E G H5582314583OMIM:616683Leukodystrophy, hypomyelinating, 121
HP:0004370HP:0004370Abnormality of temperature regulation0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndrome65
HP:0004370HP:0004370Abnormality of temperature regulation0WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndrome6
HP:0004370HP:0004370Abnormality of temperature regulation0WT1 CL E G H749012796ORPHA:656Genetic steroid-resistant nephrotic syndrome177
HP:0004370HP:0004370Abnormality of temperature regulation0WT1 CL E G H749012796ORPHA:654Nephroblastoma177
HP:0004370HP:0004370Abnormality of temperature regulation0XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0004370HP:0004370Abnormality of temperature regulation0XIAP CL E G H331592OMIM:300635Lymphoproliferative syndrome, X-linked, 281
HP:0004370HP:0004370Abnormality of temperature regulation0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosum34
HP:0004370HP:0004370Abnormality of temperature regulation0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosum86
HP:0004370HP:0004370Abnormality of temperature regulation0ZBTB16 CL E G H770412930ORPHA:520Acute promyelocytic leukemia1
HP:0004370HP:0004370Abnormality of temperature regulation0ZFHX2 CL E G H8544620152OMIM:147430Marsili syndrome
HP:0004370HP:0004370Abnormality of temperature regulation0ZFYVE19 CL E G H8493620758OMIM:619849
HP:0004370HP:0004370Abnormality of temperature regulation0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephaly34
HP:0004370HP:0004370Abnormality of temperature regulation0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephaly34
HP:0004370HP:0004370Abnormality of temperature regulation0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephaly34
HP:0004370HP:0004370Abnormality of temperature regulation0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephaly34
HP:0004370HP:0004370Abnormality of temperature regulation0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0004370HP:0004370Abnormality of temperature regulation0ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0004370HP:0002047Malignant hyperthermia1ABCA12 CL E G H2615414637ORPHA:457Harlequin ichthyosisHP:0040283 - Occasional130
HP:0004370HP:0001945Fever1ABCC2 CL E G H124453ORPHA:234Dubin-Johnson syndromeHP:0040283 - Occasional119
HP:0004370HP:0001945Fever1ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040283 - Occasional415
HP:0004370HP:0001945Fever1ABL1 CL E G H2576ORPHA:521Chronic myeloid leukemiaHP:0040282 - Frequent51
HP:0004370HP:0002045Hypothermia1ACADSB CL E G H3691OMIM:6100062-Methylbutyryl-Coa dehydrogenase deficiency.111
HP:0004370HP:0002045Hypothermia1ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional200
HP:0004370HP:0001945Fever1ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040281 - Very frequent91
HP:0004370HP:0001945Fever1ACTN4 CL E G H81166ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional27
HP:0004370HP:0001945Fever1ADA CL E G H100186ORPHA:39041Omenn syndromeHP:0040282 - Frequent75
HP:0004370HP:0001945Fever1ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0004370HP:0001945Fever1ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0004370HP:0001945Fever1ADAMTS13 CL E G H110931366OMIM:274150Thrombotic thrombocytopenic purpura, hereditary.129
HP:0004370HP:0001945Fever1ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0004370HP:0001945Fever1AK2 CL E G H204362ORPHA:33355Reticular dysgenesisHP:0040282 - Frequent19
HP:0004370HP:0001945Fever1ALDOA CL E G H226414ORPHA:57Glycogen storage disease due to aldolase A deficiencyHP:0040281 - Very frequent50
HP:0004370HP:0005968Temperature instability1ALG11 CL E G H44013832456ORPHA:280071ALG11-CDGHP:0040283 - Occasional41
HP:0004370HP:0005968Temperature instability1ALG11 CL E G H44013832456OMIM:613661Congenital disorder of glycosylation, type Ip.41
HP:0004370HP:0002046Heat intolerance1ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 363
HP:0004370HP:0001945Fever1ALPK1 CL E G H8021620917OMIM:614979Splenomegaly, cytopenia, and vision loss
HP:0004370HP:0001945Fever1ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile.126
HP:0004370HP:0001945Fever1ANK1 CL E G H286492ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional150
HP:0004370HP:0001945Fever1ANKFY1 CL E G H5147920763ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0004370HP:0001945Fever1ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0004370HP:0001945Fever1ANLN CL E G H5444314082ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional6
HP:0004370HP:0001945Fever1APOL1 CL E G H8542618ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional3
HP:0004370HP:0001945Fever1AQP2 CL E G H359634OMIM:125800Diabetes insipidus, nephrogenic, 275
HP:0004370HP:0001945Fever1AQP2 CL E G H359634ORPHA:223Nephrogenic diabetes insipidusHP:0040282 - Frequent75
HP:0004370HP:0001945Fever1ARHGAP24 CL E G H8347825361ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional4
HP:0004370HP:0001945Fever1ARHGDIA CL E G H396678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional3
HP:0004370HP:0001945Fever1ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0004370HP:0001945Fever1ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis78
HP:0004370HP:0001945Fever1ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent145
HP:0004370HP:0001945Fever1ATM CL E G H472795ORPHA:52416Mantle cell lymphomaHP:0040282 - Frequent3267
HP:0004370HP:0001945Fever1ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040283 - Occasional100
HP:0004370HP:0001945Fever1ATP1A2 CL E G H477800OMIM:602481Migraine, familial hemiplegic, 2.239
HP:0004370HP:0002047Malignant hyperthermia1ATP2A1 CL E G H487811OMIM:601003BRODY MYOPATHY80
HP:0004370HP:0002045Hypothermia1ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0001945Fever1ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0002045Hypothermia1ATP7A CL E G H538869OMIM:309400Menkes disease.192
HP:0004370HP:0002045Hypothermia1ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040283 - Occasional192
HP:0004370HP:0002045Hypothermia1ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040282 - Frequent192
HP:0004370HP:0001945Fever1AVP CL E G H551894ORPHA:30925Hereditary central diabetes insipidusHP:0040282 - Frequent22
HP:0004370HP:0001945Fever1AVPR2 CL E G H554897OMIM:304800Diabetes insipidus, nephrogenic, X-linked67
HP:0004370HP:0001945Fever1AVPR2 CL E G H554897ORPHA:223Nephrogenic diabetes insipidusHP:0040282 - Frequent67
HP:0004370HP:0001945Fever1BACH2 CL E G H6046814078OMIM:618394IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0004370HP:0001945Fever1BCAP31 CL E G H1013416695ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome8
HP:0004370HP:0001945Fever1BCL10 CL E G H8915989ORPHA:52417MALT lymphomaHP:0040281 - Very frequent18
HP:0004370HP:0001945Fever1BCL2 CL E G H596990ORPHA:545Follicular lymphomaHP:0040281 - Very frequent1
HP:0004370HP:0001945Fever1BCL6 CL E G H6041001ORPHA:545Follicular lymphomaHP:0040281 - Very frequent1
HP:0004370HP:0001945Fever1BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent101
HP:0004370HP:0001945Fever1BCR CL E G H6131014ORPHA:521Chronic myeloid leukemiaHP:0040282 - Frequent5
HP:0004370HP:0002047Malignant hyperthermia1BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040284 - Very rare99
HP:0004370HP:0001945Fever1BIRC3 CL E G H330591ORPHA:52417MALT lymphomaHP:0040281 - Very frequent
HP:0004370HP:0001945Fever1BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent4
HP:0004370HP:0002045Hypothermia1BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal20
HP:0004370HP:0001945Fever1BRCA1 CL E G H6721100ORPHA:70567CholangiocarcinomaHP:0040283 - Occasional5769
HP:0004370HP:0001945Fever1BRCA2 CL E G H6751101ORPHA:70567CholangiocarcinomaHP:0040283 - Occasional7642
HP:0004370HP:0001945Fever1BRCA2 CL E G H6751101ORPHA:654NephroblastomaHP:0040283 - Occasional7642
HP:0004370HP:0001945Fever1BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040281 - Very frequent109
HP:0004370HP:0001945Fever1BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040282 - Frequent1
HP:0004370HP:0002045Hypothermia1BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040284 - Very rare1
HP:0004370HP:0001945Fever1C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0004370HP:0001945Fever1C3 CL E G H7181318OMIM:613779Complement component 3 deficiency, autosomal recessive92
HP:0004370HP:0001945Fever1C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040281 - Very frequent1
HP:0004370HP:0001945Fever1CACNA1A CL E G H7731388OMIM:141500Migraine, familial hemiplegic, 1.449
HP:0004370HP:0001945Fever1CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesiaHP:0040282 - Frequent247
HP:0004370HP:0002047Malignant hyperthermia1CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesiaHP:0040282 - Frequent247
HP:0004370HP:0001945Fever1CACNA1S CL E G H7791397OMIM:601887Malignant hyperthermia, susceptibility to, 5.247
HP:0004370HP:0001945Fever1CALR CL E G H8111455ORPHA:131Budd-Chiari syndromeHP:0040282 - Frequent1
HP:0004370HP:0001945Fever1CALR CL E G H8111455OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included1
HP:0004370HP:0001945Fever1CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040283 - Occasional1
HP:0004370HP:0001945Fever1CASK CL E G H85731497OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency.118
HP:0004370HP:0001945Fever1CCND1 CL E G H5951582ORPHA:52416Mantle cell lymphomaHP:0040282 - Frequent1
HP:0004370HP:0001945Fever1CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0004370HP:0001945Fever1CD244 CL E G H5174418171OMIM:180300RHEUMATOID ARTHRITIS; RA2
HP:0004370HP:0001945Fever1CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis8
HP:0004370HP:0001945Fever1CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040282 - Frequent8
HP:0004370HP:0001945Fever1CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0004370HP:0001945Fever1CD2AP CL E G H2360714258ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional105
HP:0004370HP:0001945Fever1CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040282 - Frequent18
HP:0004370HP:0001945Fever1CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040282 - Frequent24
HP:0004370HP:0001945Fever1CD70 CL E G H97011937OMIM:618261LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0004370HP:0001945Fever1CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent9
HP:0004370HP:0001945Fever1CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent6
HP:0004370HP:0005968Temperature instability1CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0004370HP:0005968Temperature instability1CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional200
HP:0004370HP:0005968Temperature instability1CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0004370HP:0005968Temperature instability1CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0004370HP:0001945Fever1CEBPE CL E G H10531836OMIM:260570Pelger-Huet-Like anomaly and episodic fever with abdominal pain.3
HP:0004370HP:0001945Fever1CFH CL E G H30754883OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.86
HP:0004370HP:0001945Fever1CFHR1 CL E G H30784888OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0004370HP:0001945Fever1CFHR3 CL E G H1087816980OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0004370HP:0001945Fever1CFTR CL E G H10801884ORPHA:60033Idiopathic bronchiectasisHP:0040283 - Occasional1371
HP:0004370HP:0001945Fever1CFTR CL E G H10801884OMIM:167800Pancreatitis, hereditary.1371
HP:0004370HP:0001945Fever1CHD7 CL E G H5563620626ORPHA:39041Omenn syndromeHP:0040282 - Frequent515
HP:0004370HP:0001945Fever1CHEK2 CL E G H1120016627ORPHA:668OsteosarcomaHP:0040284 - Very rare833
HP:0004370HP:0002047Malignant hyperthermia1CHRNA1 CL E G H11341955OMIM:253290Multiple pterygium syndrome, Lethal type.74
HP:0004370HP:0002047Malignant hyperthermia1CHRND CL E G H11441965OMIM:253290Multiple pterygium syndrome, Lethal type.88
HP:0004370HP:0002047Malignant hyperthermia1CHRNG CL E G H11461967OMIM:253290Multiple pterygium syndrome, Lethal type.68
HP:0004370HP:0001945Fever1CIITA CL E G H42617067OMIM:180300RHEUMATOID ARTHRITIS; RA118
HP:0004370HP:0002047Malignant hyperthermia1CLCF1 CL E G H2352917412ORPHA:1545Crisponi syndromeHP:0040281 - Very frequent6
HP:0004370HP:0002046Heat intolerance1CLDN10 CL E G H90712033OMIM:617671Helix syndrome3
HP:0004370HP:0001945Fever1CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent38
HP:0004370HP:0002045Hypothermia1COA6 CL E G H38875318025OMIM:616501CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX48
HP:0004370HP:0001945Fever1COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome71
HP:0004370HP:0001945Fever1COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0004370HP:0001945Fever1COL1A1 CL E G H12772197ORPHA:1310Caffey diseaseHP:0040282 - Frequent373
HP:0004370HP:0001945Fever1COL1A1 CL E G H12772197OMIM:114000Caffey disease.373
HP:0004370HP:0001945Fever1COL4A3 CL E G H12852204ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional161
HP:0004370HP:0001945Fever1COQ8B CL E G H7993419041ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional35
HP:0004370HP:0001945Fever1COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0004370HP:0001945Fever1COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0004370HP:0001945Fever1COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0004370HP:0001945Fever1COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0004370HP:0001945Fever1COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0004370HP:0001945Fever1CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0004370HP:0001945Fever1CPT2 CL E G H13762330OMIM:614212Encephalopathy, acute, infection-induced, susceptibility to, 4.101
HP:0004370HP:0001945Fever1CR2 CL E G H13802336OMIM:614699IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID710
HP:0004370HP:0001945Fever1CRB2 CL E G H28620418688ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional12
HP:0004370HP:0002047Malignant hyperthermia1CRLF1 CL E G H92442364ORPHA:1545Crisponi syndromeHP:0040281 - Very frequent24
HP:0004370HP:0001945Fever1CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 124
HP:0004370HP:0001945Fever1CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040281 - Very frequent10
HP:0004370HP:0001945Fever1CTRC CL E G H113302523OMIM:167800Pancreatitis, hereditary.39
HP:0004370HP:0001945Fever1CYBA CL E G H15352577ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent27
HP:0004370HP:0001945Fever1CYBB CL E G H15362578ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent111
HP:0004370HP:0001945Fever1CYBB CL E G H15362578OMIM:306400Chronic granulomatous disease, X-linked111
HP:0004370HP:0001945Fever1CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent
HP:0004370HP:0001945Fever1CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0004370HP:0001945Fever1CYP11B2 CL E G H15852592OMIM:203400Corticosterone methyloxidase type I deficiency73
HP:0004370HP:0001945Fever1CYP21A2 CL E G H15892600OMIM:201910Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency.86
HP:0004370HP:0001945Fever1CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040283 - Occasional
HP:0004370HP:0001945Fever1DAAM2 CL E G H2350018143ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0004370HP:0002045Hypothermia1DBH CL E G H16212689ORPHA:230Dopamine beta-hydroxylase deficiencyHP:0040283 - Occasional80
HP:0004370HP:0002045Hypothermia1DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital80
HP:0004370HP:0001945Fever1DCLRE1C CL E G H6442117642ORPHA:39041Omenn syndromeHP:0040282 - Frequent94
HP:0004370HP:0001945Fever1DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent30
HP:0004370HP:0005968Temperature instability1DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency.43
HP:0004370HP:0002045Hypothermia1DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0004370HP:0001945Fever1DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004370HP:0002045Hypothermia1DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0004370HP:0001945Fever1DIS3L2 CL E G H12956328648ORPHA:654NephroblastomaHP:0040283 - Occasional164
HP:0004370HP:0005968Temperature instability1DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0004370HP:0005968Temperature instability1DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional22
HP:0004370HP:0005968Temperature instability1DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0004370HP:0005968Temperature instability1DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0004370HP:0005968Temperature instability1DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0004370HP:0005968Temperature instability1DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional3
HP:0004370HP:0005968Temperature instability1DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0004370HP:0005968Temperature instability1DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0004370HP:0001945Fever1DNASE2 CL E G H17772960OMIM:619858
HP:0004370HP:0002047Malignant hyperthermia1DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040284 - Very rare167
HP:0004370HP:0001945Fever1DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0004370HP:0001945Fever1DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI.108
HP:0004370HP:0002045Hypothermia1DUOX2 CL E G H5050613273ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional121
HP:0004370HP:0002045Hypothermia1DUOX2 CL E G H5050613273ORPHA:226316Genetic transient congenital hypothyroidismHP:0040284 - Very rare121
HP:0004370HP:0002045Hypothermia1DUOXA2 CL E G H40575332698ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional11
HP:0004370HP:0002046Heat intolerance1EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0004370HP:0001945Fever1EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0004370HP:0002047Malignant hyperthermia1EDAR CL E G H109132895ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional86
HP:0004370HP:0002046Heat intolerance1EDAR CL E G H109132895OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.86
HP:0004370HP:0002046Heat intolerance1EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.86
HP:0004370HP:0002047Malignant hyperthermia1EDARADD CL E G H12817814341ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional56
HP:0004370HP:0002046Heat intolerance1EDARADD CL E G H12817814341OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.56
HP:0004370HP:0002046Heat intolerance1EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0004370HP:0001945Fever1EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndromeHP:0040283 - Occasional65
HP:0004370HP:0001945Fever1EIF2B1 CL E G H19673257OMIM:603896Leukoencephalopathy with vanishing white matter.42
HP:0004370HP:0001945Fever1EIF2B2 CL E G H88923258OMIM:603896Leukoencephalopathy with vanishing white matter.24
HP:0004370HP:0001945Fever1EIF2B3 CL E G H88913259OMIM:603896Leukoencephalopathy with vanishing white matter.32
HP:0004370HP:0001945Fever1EIF2B4 CL E G H88903260OMIM:603896Leukoencephalopathy with vanishing white matter.38
HP:0004370HP:0001945Fever1EIF2B5 CL E G H88933261OMIM:603896Leukoencephalopathy with vanishing white matter.48
HP:0004370HP:0001945Fever1ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent79
HP:0004370HP:0001945Fever1ELANE CL E G H19913309ORPHA:2686Cyclic neutropenia79
HP:0004370HP:0001945Fever1ELANE CL E G H19913309OMIM:162800Cyclic neutropenia.79
HP:0004370HP:0001945Fever1ELF4 CL E G H20003319OMIM:301074AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL21
HP:0004370HP:0002047Malignant hyperthermia1ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040281 - Very frequent133
HP:0004370HP:0001945Fever1ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III133
HP:0004370HP:0001945Fever1EMP2 CL E G H20133334ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional4
HP:0004370HP:0001945Fever1ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040283 - Occasional151
HP:0004370HP:0001945Fever1EPB41 CL E G H20353377ORPHA:288Hereditary elliptocytosisHP:0040284 - Very rare6
HP:0004370HP:0001945Fever1EPB42 CL E G H20383381ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional51
HP:0004370HP:0001945Fever1ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040281 - Very frequent1
HP:0004370HP:0001945Fever1ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent106
HP:0004370HP:0001945Fever1ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent54
HP:0004370HP:0001945Fever1ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent158
HP:0004370HP:0001945Fever1ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent83
HP:0004370HP:0001945Fever1F5 CL E G H21533542ORPHA:131Budd-Chiari syndromeHP:0040282 - Frequent159
HP:0004370HP:0001945Fever1FAH CL E G H21843579OMIM:276700Tyrosinemia, type I107
HP:0004370HP:0001945Fever1FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040281 - Very frequent59
HP:0004370HP:0001945Fever1FBP1 CL E G H22033606OMIM:229700Fructose-1,6-Bisphosphatase deficiency.64
HP:0004370HP:0005968Temperature instability1FCGR3B CL E G H22153620ORPHA:464370Neonatal alloimmune neutropeniaHP:0040283 - Occasional5
HP:0004370HP:0001945Fever1FCGR3B CL E G H22153620ORPHA:464370Neonatal alloimmune neutropeniaHP:0040283 - Occasional5
HP:0004370HP:0005968Temperature instability1FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0004370HP:0005968Temperature instability1FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional17
HP:0004370HP:0005968Temperature instability1FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0004370HP:0005968Temperature instability1FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0004370HP:0005968Temperature instability1FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional172
HP:0004370HP:0005968Temperature instability1FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0004370HP:0001945Fever1FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent4
HP:0004370HP:0001945Fever1FOCAD CL E G H5491423377OMIM:6199913
HP:0004370HP:0005968Temperature instability1FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0004370HP:0005968Temperature instability1FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional48
HP:0004370HP:0005968Temperature instability1FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0004370HP:0005968Temperature instability1FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0004370HP:0001945Fever1FOXP1 CL E G H270863823ORPHA:52417MALT lymphomaHP:0040281 - Very frequent184
HP:0004370HP:0001945Fever1G6PD CL E G H25394057OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency.101
HP:0004370HP:0001945Fever1GAA CL E G H25484065OMIM:232300Glycogen storage disease II.407
HP:0004370HP:0002045Hypothermia1GABRA2 CL E G H25554076OMIM:618557DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE784
HP:0004370HP:0001945Fever1GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0004370HP:0005968Temperature instability1GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional160
HP:0004370HP:0001945Fever1GALC CL E G H25814115OMIM:245200Krabbe disease160
HP:0004370HP:0001945Fever1GAPVD1 CL E G H2613023375ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0004370HP:0005968Temperature instability1GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0004370HP:0005968Temperature instability1GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional2
HP:0004370HP:0005968Temperature instability1GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0004370HP:0005968Temperature instability1GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0004370HP:0001945Fever1GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndromeHP:0040282 - Frequent137
HP:0004370HP:0001945Fever1GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B86
HP:0004370HP:0001945Fever1GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent56
HP:0004370HP:0001945Fever1GLA CL E G H27174296ORPHA:324Fabry diseaseHP:0040283 - Occasional291
HP:0004370HP:0005968Temperature instability1GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0004370HP:0005968Temperature instability1GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional173
HP:0004370HP:0005968Temperature instability1GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0004370HP:0005968Temperature instability1GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0004370HP:0001945Fever1GPC3 CL E G H27194451ORPHA:654NephroblastomaHP:0040283 - Occasional73
HP:0004370HP:0001945Fever1GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent2
HP:0004370HP:0001945Fever1GYPC CL E G H29954704ORPHA:288Hereditary elliptocytosisHP:0040284 - Very rare5
HP:0004370HP:0001945Fever1H19 CL E G H2831204713ORPHA:654NephroblastomaHP:0040283 - Occasional4
HP:0004370HP:0001945Fever1H4C5 CL E G H83674790OMIM:619950
HP:0004370HP:0001945Fever1HAVCR2 CL E G H8486818437ORPHA:86884Subcutaneous panniculitis-like T-cell lymphomaHP:0040282 - Frequent
HP:0004370HP:0001945Fever1HAVCR2 CL E G H8486818437OMIM:618398T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE.
HP:0004370HP:0001945Fever1HBB CL E G H30434827ORPHA:231214Beta-thalassemia major580
HP:0004370HP:0001945Fever1HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemia580
HP:0004370HP:0001945Fever1HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0004370HP:0005968Temperature instability1HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0004370HP:0002045Hypothermia1HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent21
HP:0004370HP:0001945Fever1HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040281 - Very frequent4
HP:0004370HP:0001945Fever1HLA-B CL E G H31064932ORPHA:397Giant cell arteritisHP:0040281 - Very frequent4
HP:0004370HP:0001945Fever1HLA-B CL E G H31064932ORPHA:29207Reactive arthritisHP:0040283 - Occasional4
HP:0004370HP:0001945Fever1HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndromeHP:0040281 - Very frequent4
HP:0004370HP:0001945Fever1HLA-B CL E G H31064932ORPHA:3287Takayasu arteritisHP:0040281 - Very frequent4
HP:0004370HP:0001945Fever1HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040281 - Very frequent
HP:0004370HP:0001945Fever1HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040281 - Very frequent1
HP:0004370HP:0001945Fever1HLA-DRB1 CL E G H31234948ORPHA:747Autoimmune pulmonary alveolar proteinosisHP:0040284 - Very rare2
HP:0004370HP:0001945Fever1HLA-DRB1 CL E G H31234948ORPHA:545Follicular lymphomaHP:0040281 - Very frequent2
HP:0004370HP:0001945Fever1HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritisHP:0040281 - Very frequent2
HP:0004370HP:0001945Fever1HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040282 - Frequent2
HP:0004370HP:0002045Hypothermia1HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040284 - Very rare2
HP:0004370HP:0001945Fever1HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 1.2
HP:0004370HP:0001945Fever1HLA-DRB1 CL E G H31234948ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040281 - Very frequent2
HP:0004370HP:0001945Fever1HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040283 - Occasional81
HP:0004370HP:0001945Fever1HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040283 - Occasional35
HP:0004370HP:0002045Hypothermia1HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040284 - Very rare35
HP:0004370HP:0001945Fever1HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency.35
HP:0004370HP:0002046Heat intolerance1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0004370HP:0001945Fever1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0004370HP:0001945Fever1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0004370HP:0002046Heat intolerance1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0004370HP:0002047Malignant hyperthermia1HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0004370HP:0002047Malignant hyperthermia1HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0004370HP:0001945Fever1HTR1A CL E G H33505286OMIM:614674Periodic fever, menstrual cycle-dependent.2
HP:0004370HP:0001945Fever1IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 316
HP:0004370HP:0001945Fever1IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0004370HP:0001945Fever1IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0004370HP:0001945Fever1IFIH1 CL E G H6413518873OMIM:619773IMMUNODEFICIENCY 95; IMD9528
HP:0004370HP:0001945Fever1IFNG CL E G H34585438OMIM:618963IMMUNODEFICIENCY 69; IMD6923
HP:0004370HP:0001945Fever1IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040281 - Very frequent60
HP:0004370HP:0001945Fever1IFNGR1 CL E G H34595439OMIM:209950Immunodeficiency 27A, mycobacteriosis, AR60
HP:0004370HP:0001945Fever1IGH CL E G H34925477ORPHA:545Follicular lymphomaHP:0040281 - Very frequent7
HP:0004370HP:0001945Fever1IGH CL E G H34925477ORPHA:52417MALT lymphomaHP:0040281 - Very frequent7
HP:0004370HP:0001945Fever1IGH CL E G H34925477ORPHA:52416Mantle cell lymphomaHP:0040282 - Frequent7
HP:0004370HP:0001945Fever1IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent7
HP:0004370HP:0001945Fever1IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0004370HP:0001945Fever1IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndromeHP:0040281 - Very frequent8
HP:0004370HP:0001945Fever1IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040281 - Very frequent2
HP:0004370HP:0001945Fever1IL10 CL E G H35865962OMIM:180300RHEUMATOID ARTHRITIS; RA2
HP:0004370HP:0001945Fever1IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0004370HP:0001945Fever1IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0004370HP:0001945Fever1IL12B CL E G H35935970ORPHA:3287Takayasu arteritisHP:0040281 - Very frequent31
HP:0004370HP:0001945Fever1IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040281 - Very frequent1
HP:0004370HP:0001945Fever1IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis65
HP:0004370HP:0001945Fever1IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0004370HP:0001945Fever1IL2RG CL E G H35616010ORPHA:39041Omenn syndromeHP:0040282 - Frequent48
HP:0004370HP:0001945Fever1IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiency48
HP:0004370HP:0001945Fever1IL36RN CL E G H2652515561OMIM:614204PSORIASIS 14, PUSTULAR; PSORS1451
HP:0004370HP:0001945Fever1IL6 CL E G H35696018ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040281 - Very frequent2
HP:0004370HP:0033104Inappropriate absence of fever1IL6R CL E G H35706019OMIM:618944HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES51
HP:0004370HP:0001945Fever1IL7R CL E G H35756024ORPHA:39041Omenn syndromeHP:0040282 - Frequent94
HP:0004370HP:0001945Fever1IL7R CL E G H35756024ORPHA:169154T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiencyHP:0040283 - Occasional94
HP:0004370HP:0001945Fever1INF2 CL E G H6442323791ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional135
HP:0004370HP:0005968Temperature instability1IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0004370HP:0001945Fever1IRAK1 CL E G H36546112ORPHA:93552Pediatric systemic lupus erythematosusHP:0040282 - Frequent
HP:0004370HP:0001945Fever1IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent4
HP:0004370HP:0001945Fever1IRF4 CL E G H36626119ORPHA:3452Whipple diseaseHP:0040281 - Very frequent1
HP:0004370HP:0001945Fever1IRF8 CL E G H33945358OMIM:614893IMMUNODEFICIENCY 32A; IMD32A5
HP:0004370HP:0001945Fever1IRF8 CL E G H33945358OMIM:226990Immunodeficiency 32B.5
HP:0004370HP:0001945Fever1IRF8 CL E G H33945358ORPHA:319600Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiencyHP:0040281 - Very frequent5
HP:0004370HP:0001945Fever1ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0004370HP:0002046Heat intolerance1ITPR2 CL E G H37096181OMIM:106190Anhidrosis, isolated, with normal sweat glands.1
HP:0004370HP:0002045Hypothermia1IYD CL E G H38943421071ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional130
HP:0004370HP:0001945Fever1JAK2 CL E G H37176192ORPHA:131Budd-Chiari syndromeHP:0040282 - Frequent57
HP:0004370HP:0001945Fever1JAK2 CL E G H37176192OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included57
HP:0004370HP:0001945Fever1JAK2 CL E G H37176192ORPHA:824Primary myelofibrosisHP:0040283 - Occasional57
HP:0004370HP:0001945Fever1KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0004370HP:0002047Malignant hyperthermia1KDF1 CL E G H12669526624ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional1
HP:0004370HP:0001945Fever1KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0004370HP:0001945Fever1KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent327
HP:0004370HP:0001945Fever1KLHL7 CL E G H5597515646OMIM:617055Crisponi/cold-Induced sweating syndrome 3.42
HP:0004370HP:0001945Fever1KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0004370HP:0002046Heat intolerance1KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplexHP:0040282 - Frequent110
HP:0004370HP:0002046Heat intolerance1KRT14 CL E G H38616416OMIM:161000Naegeli syndrome.110
HP:0004370HP:0002046Heat intolerance1KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0004370HP:0001945Fever1KRT18 CL E G H38756430OMIM:215600Cirrhosis, familial.19
HP:0004370HP:0002046Heat intolerance1KRT5 CL E G H38526442ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional173
HP:0004370HP:0002046Heat intolerance1KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplexHP:0040282 - Frequent173
HP:0004370HP:0001945Fever1LACC1 CL E G H14481126789OMIM:618795JUVENILE ARTHRITIS; JUVAR1
HP:0004370HP:0001945Fever1LACC1 CL E G H14481126789ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040281 - Very frequent1
HP:0004370HP:0001945Fever1LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosa116
HP:0004370HP:0001945Fever1LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosa167
HP:0004370HP:0001945Fever1LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosa135
HP:0004370HP:0001945Fever1LBR CL E G H39306518ORPHA:779Reynolds syndromeHP:0040282 - Frequent70
HP:0004370HP:0002046Heat intolerance1LBX1 CL E G H1066016960OMIM:619483CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0004370HP:0002046Heat intolerance1LDHA CL E G H39396535ORPHA:284426Glycogen storage disease due to lactate dehydrogenase M-subunit deficiencyHP:0040283 - Occasional35
HP:0004370HP:0002045Hypothermia1LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent51
HP:0004370HP:0002045Hypothermia1LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent43
HP:0004370HP:0001945Fever1LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndrome144
HP:0004370HP:0001945Fever1LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0004370HP:0001945Fever1LIG4 CL E G H39816601ORPHA:39041Omenn syndromeHP:0040282 - Frequent88
HP:0004370HP:0001945Fever1LIPA CL E G H39886617ORPHA:75233Wolman diseaseHP:0040283 - Occasional73
HP:0004370HP:0005968Temperature instability1LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0004370HP:0002045Hypothermia1LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0004370HP:0001945Fever1LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0004370HP:0001945Fever1LPIN1 CL E G H2317513345OMIM:268200Rhabdomyolysis, acute recurrent.95
HP:0004370HP:0001945Fever1LPIN2 CL E G H966314450ORPHA:77297Majeed syndromeHP:0040281 - Very frequent186
HP:0004370HP:0001945Fever1LPIN2 CL E G H966314450OMIM:609628MAJEED SYNDROME; MJDS186
HP:0004370HP:0001945Fever1LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0004370HP:0001945Fever1LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0004370HP:0001945Fever1LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040282 - Frequent239
HP:0004370HP:0005968Temperature instability1MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0004370HP:0005968Temperature instability1MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0004370HP:0001945Fever1MAGI2 CL E G H986318957ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional59
HP:0004370HP:0001945Fever1MALT1 CL E G H108926819ORPHA:52417MALT lymphomaHP:0040281 - Very frequent6
HP:0004370HP:0002046Heat intolerance1MAP2K1 CL E G H56046840OMIM:615279Cardiofaciocutaneous syndrome 3134
HP:0004370HP:0002046Heat intolerance1MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4.178
HP:0004370HP:0002046Heat intolerance1MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040282 - Frequent22
HP:0004370HP:0001945Fever1MCM10 CL E G H5538818043OMIM:619313IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0004370HP:0001945Fever1MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040281 - Very frequent281
HP:0004370HP:0001945Fever1MEFV CL E G H42106998ORPHA:342Familial Mediterranean feverHP:0040281 - Very frequent281
HP:0004370HP:0001945Fever1MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0004370HP:0001945Fever1MEFV CL E G H42106998OMIM:134610FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT281
HP:0004370HP:0001945Fever1MEFV CL E G H42106998OMIM:608068NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE281
HP:0004370HP:0001945Fever1MEFV CL E G H42106998ORPHA:3243Sweet syndrome281
HP:0004370HP:0002045Hypothermia1MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0004370HP:0001945Fever1MIF CL E G H42827097ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040281 - Very frequent1
HP:0004370HP:0005968Temperature instability1MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0004370HP:0005968Temperature instability1MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0004370HP:0001945Fever1MLX CL E G H694511645ORPHA:3287Takayasu arteritisHP:0040281 - Very frequent
HP:0004370HP:0002045Hypothermia1MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040283 - Occasional101
HP:0004370HP:0001945Fever1MPL CL E G H43527217OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included97
HP:0004370HP:0001945Fever1MPL CL E G H43527217ORPHA:824Primary myelofibrosisHP:0040283 - Occasional97
HP:0004370HP:0001945Fever1MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent1
HP:0004370HP:0001945Fever1MTHFR CL E G H45247436ORPHA:563609Isolated anencephaly183
HP:0004370HP:0001945Fever1MTHFR CL E G H45247436ORPHA:563612Isolated exencephaly183
HP:0004370HP:0002047Malignant hyperthermia1MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040284 - Very rare7
HP:0004370HP:0001945Fever1MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0004370HP:0001945Fever1MVK CL E G H45987530ORPHA:343Hyperimmunoglobulinemia D with periodic fever150
HP:0004370HP:0001945Fever1MYD88 CL E G H46157562ORPHA:183713Bacterial susceptibility due to TLR signaling pathway deficiencyHP:0040283 - Occasional9
HP:0004370HP:0001945Fever1MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemiaHP:0040283 - Occasional9
HP:0004370HP:0002047Malignant hyperthermia1MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040284 - Very rare19
HP:0004370HP:0002047Malignant hyperthermia1MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A166
HP:0004370HP:0002047Malignant hyperthermia1MYH3 CL E G H46217573ORPHA:2053Freeman-Sheldon syndromeHP:0040282 - Frequent166
HP:0004370HP:0001945Fever1MYO1E CL E G H46437599ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional3
HP:0004370HP:0005968Temperature instability1MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0004370HP:0001945Fever1NAB2 CL E G H46657627ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare
HP:0004370HP:0001945Fever1NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent
HP:0004370HP:0002047Malignant hyperthermia1NALCN CL E G H25923219082ORPHA:2053Freeman-Sheldon syndromeHP:0040282 - Frequent48
HP:0004370HP:0001945Fever1NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0004370HP:0001945Fever1NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent13
HP:0004370HP:0001945Fever1NCF2 CL E G H46887661ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent67
HP:0004370HP:0001945Fever1NCF4 CL E G H46897662ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent37
HP:0004370HP:0001945Fever1ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0004370HP:0002045Hypothermia1ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0001945Fever1ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0001945Fever1ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0002045Hypothermia1ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0002045Hypothermia1ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0001945Fever1ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0001945Fever1ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0004370HP:0001945Fever1ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0002045Hypothermia1ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0001945Fever1ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0004370HP:0002045Hypothermia1ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0001945Fever1ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0001945Fever1ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0004370HP:0001945Fever1ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0002045Hypothermia1ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0002046Heat intolerance1NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 1HP:0040283 - Occasional7
HP:0004370HP:0002046Heat intolerance1NFKBIA CL E G H47927797OMIM:612132ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT.27
HP:0004370HP:0001945Fever1NFKBIL1 CL E G H47957800OMIM:180300RHEUMATOID ARTHRITIS; RA1
HP:0004370HP:0001945Fever1NGF CL E G H48037808OMIM:608654Neuropathy, hereditary sensory and autonomic, type V20
HP:0004370HP:0001945Fever1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0004370HP:0001945Fever1NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndrome51
HP:0004370HP:0001945Fever1NLRC4 CL E G H5848416412OMIM:616050AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC30
HP:0004370HP:0001945Fever1NLRC4 CL E G H5848416412OMIM:616115FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS430
HP:0004370HP:0001945Fever1NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0004370HP:0001945Fever1NLRP12 CL E G H9166222938OMIM:611762Familial cold autoinflammatory syndrome 299
HP:0004370HP:0001945Fever1NLRP3 CL E G H11454816400ORPHA:1451CINCA syndromeHP:0040281 - Very frequent217
HP:0004370HP:0001945Fever1NLRP3 CL E G H11454816400OMIM:607115CINCA SYNDROME; CINCA217
HP:0004370HP:0001945Fever1NLRP3 CL E G H11454816400OMIM:617772Deafness, autosomal dominant 34, with or without inflammation.217
HP:0004370HP:0001945Fever1NLRP3 CL E G H11454816400OMIM:120100FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1217
HP:0004370HP:0001945Fever1NLRP3 CL E G H11454816400ORPHA:47045Familial cold urticariaHP:0040281 - Very frequent217
HP:0004370HP:0001945Fever1NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome217
HP:0004370HP:0001945Fever1NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040283 - Occasional217
HP:0004370HP:0001945Fever1NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040282 - Frequent187
HP:0004370HP:0001945Fever1NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0004370HP:0005968Temperature instability1NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0004370HP:0005968Temperature instability1NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional45
HP:0004370HP:0005968Temperature instability1NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0004370HP:0005968Temperature instability1NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0004370HP:0005968Temperature instability1NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0004370HP:0001945Fever1NPHS1 CL E G H48687908ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional241
HP:0004370HP:0001945Fever1NPHS2 CL E G H782713394ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional69
HP:0004370HP:0001945Fever1NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent12
HP:0004370HP:0001945Fever1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0004370HP:0002045Hypothermia1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040284 - Very rare97
HP:0004370HP:0001945Fever1NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis97
HP:0004370HP:0001945Fever1NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent
HP:0004370HP:0001945Fever1NUP107 CL E G H5712229914ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional5
HP:0004370HP:0001945Fever1NUP133 CL E G H5574618016ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional1
HP:0004370HP:0001945Fever1NUP160 CL E G H2327918017ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0004370HP:0001945Fever1NUP205 CL E G H2316518658ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional1
HP:0004370HP:0001945Fever1NUP37 CL E G H7902329929ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0004370HP:0001945Fever1NUP85 CL E G H799028734ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0004370HP:0001945Fever1NUP93 CL E G H968828958ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional5
HP:0004370HP:0002046Heat intolerance1OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional121
HP:0004370HP:0002046Heat intolerance1ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 9.19
HP:0004370HP:0001945Fever1ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 919
HP:0004370HP:0001945Fever1OTULIN CL E G H9026825118OMIM:617099AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS3
HP:0004370HP:0001945Fever1P4HA2 CL E G H89748547ORPHA:397Giant cell arteritisHP:0040281 - Very frequent3
HP:0004370HP:0002045Hypothermia1P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities.
HP:0004370HP:0001945Fever1P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities.
HP:0004370HP:0001945Fever1PAX2 CL E G H50768616ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional39
HP:0004370HP:0002045Hypothermia1PAX8 CL E G H78498622OMIM:218700Hypothyroidism, congenital, nongoitrous, 2.63
HP:0004370HP:0001945Fever1PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B98
HP:0004370HP:0002047Malignant hyperthermia1PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0004370HP:0001945Fever1PIK3CG CL E G H52948978OMIM:619802IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD972
HP:0004370HP:0001945Fever1PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent43
HP:0004370HP:0001945Fever1PKHD1 CL E G H53149016ORPHA:53035Caroli diseaseHP:0040283 - Occasional563
HP:0004370HP:0005968Temperature instability1PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040283 - Occasional133
HP:0004370HP:0001945Fever1PLCE1 CL E G H5119617175ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional118
HP:0004370HP:0005968Temperature instability1PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0004370HP:0001945Fever1PML CL E G H53719113ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent3
HP:0004370HP:0001945Fever1PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040283 - Occasional150
HP:0004370HP:0001945Fever1PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathy79
HP:0004370HP:0002046Heat intolerance1POFUT1 CL E G H2350914988ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional2
HP:0004370HP:0002046Heat intolerance1POGLUT1 CL E G H5698322954ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional6
HP:0004370HP:0001945Fever1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0004370HP:0001945Fever1POMP CL E G H5137120330OMIM:618048Proteasome-Associated autoinflammatory syndrome 2.2
HP:0004370HP:0002045Hypothermia1POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent36
HP:0004370HP:0001945Fever1POU6F2 CL E G H1128121694ORPHA:654NephroblastomaHP:0040283 - Occasional2
HP:0004370HP:0001945Fever1PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040281 - Very frequent58
HP:0004370HP:0001945Fever1PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 258
HP:0004370HP:0001945Fever1PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent134
HP:0004370HP:0001945Fever1PRKAR1A CL E G H55739388ORPHA:615Familial atrial myxomaHP:0040283 - Occasional134
HP:0004370HP:0001945Fever1PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0004370HP:0001945Fever1PRNP CL E G H56219449OMIM:600072Fatal familial insomnia.69
HP:0004370HP:0002045Hypothermia1PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent54
HP:0004370HP:0001945Fever1PRSS1 CL E G H56449475OMIM:167800Pancreatitis, hereditary.51
HP:0004370HP:0001945Fever1PRSS2 CL E G H56459483OMIM:167800Pancreatitis, hereditary.1
HP:0004370HP:0001945Fever1PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040281 - Very frequent
HP:0004370HP:0005968Temperature instability1PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional81
HP:0004370HP:0001945Fever1PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0004370HP:0002046Heat intolerance1PSENEN CL E G H5585130100ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional2
HP:0004370HP:0001945Fever1PSMB10 CL E G H56999538OMIM:619175PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0004370HP:0001945Fever1PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3
HP:0004370HP:0001945Fever1PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0004370HP:0001945Fever1PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3
HP:0004370HP:0001945Fever1PSMG2 CL E G H5698424929OMIM:619183PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0004370HP:0001945Fever1PSTPIP1 CL E G H90519580ORPHA:69126Pyogenic arthritis-pyoderma gangrenosum-acne syndromeHP:0040281 - Very frequent96
HP:0004370HP:0005968Temperature instability1PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0004370HP:0005968Temperature instability1PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional665
HP:0004370HP:0005968Temperature instability1PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0004370HP:0005968Temperature instability1PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0004370HP:0001945Fever1PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0004370HP:0001945Fever1PTPN22 CL E G H261919652ORPHA:397Giant cell arteritisHP:0040281 - Very frequent3
HP:0004370HP:0001945Fever1PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040281 - Very frequent3
HP:0004370HP:0001945Fever1PTPN22 CL E G H261919652OMIM:180300RHEUMATOID ARTHRITIS; RA3
HP:0004370HP:0001945Fever1PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis3
HP:0004370HP:0001945Fever1PTPN3 CL E G H57749655ORPHA:70567CholangiocarcinomaHP:0040283 - Occasional1
HP:0004370HP:0001945Fever1PTPRC CL E G H57889666OMIM:61992425
HP:0004370HP:0001945Fever1PTPRO CL E G H58009678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional2
HP:0004370HP:0001945Fever1PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A19
HP:0004370HP:0005968Temperature instability1PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0004370HP:0005968Temperature instability1PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0004370HP:0001945Fever1QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C43
HP:0004370HP:0001945Fever1RAB27A CL E G H58739766ORPHA:79477Griscelli syndrome type 2HP:0040283 - Occasional67
HP:0004370HP:0001945Fever1RAB27A CL E G H58739766OMIM:607624Griscelli syndrome, type 267
HP:0004370HP:0001945Fever1RAG1 CL E G H58969831ORPHA:39041Omenn syndromeHP:0040282 - Frequent127
HP:0004370HP:0001945Fever1RAG1 CL E G H58969831ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040282 - Frequent127
HP:0004370HP:0001945Fever1RAG2 CL E G H58979832ORPHA:39041Omenn syndromeHP:0040282 - Frequent50
HP:0004370HP:0001945Fever1RAG2 CL E G H58979832ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040282 - Frequent50
HP:0004370HP:0001945Fever1RANBP2 CL E G H59039848ORPHA:88619Familial acute necrotizing encephalopathyHP:0040282 - Frequent57
HP:0004370HP:0001945Fever1RARA CL E G H59149864ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent2
HP:0004370HP:0001945Fever1RB1 CL E G H59259884ORPHA:668OsteosarcomaHP:0040284 - Very rare365
HP:0004370HP:0001945Fever1RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency10
HP:0004370HP:0001945Fever1REL CL E G H59669954OMIM:619652IMMUNODEFICIENCY 92; IMD921
HP:0004370HP:0001945Fever1REST CL E G H59789966ORPHA:654NephroblastomaHP:0040283 - Occasional7
HP:0004370HP:0001945Fever1RIPK1 CL E G H873710019OMIM:618852AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0004370HP:0001945Fever1RMRP CL E G H602310031ORPHA:39041Omenn syndromeHP:0040282 - Frequent37
HP:0004370HP:0001945Fever1RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0004370HP:0001945Fever1RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0004370HP:0001945Fever1RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0004370HP:0001945Fever1RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndrome7
HP:0004370HP:0001945Fever1RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0004370HP:0001945Fever1RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0004370HP:0001945Fever1RUNX1 CL E G H86110471ORPHA:521Chronic myeloid leukemiaHP:0040282 - Frequent181
HP:0004370HP:0002047Malignant hyperthermia1RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040284 - Very rare1200
HP:0004370HP:0002047Malignant hyperthermia1RYR1 CL E G H626110483ORPHA:597Central core diseaseHP:0040282 - Frequent1200
HP:0004370HP:0002047Malignant hyperthermia1RYR1 CL E G H626110483OMIM:117000Central core diseaseHP:0040283 - Occasional1200
HP:0004370HP:0002047Malignant hyperthermia1RYR1 CL E G H626110483ORPHA:424107Congenital myopathy with myasthenic-like onsetHP:0040282 - Frequent1200
HP:0004370HP:0002047Malignant hyperthermia1RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermiaHP:0040281 - Very frequent1200
HP:0004370HP:0002047Malignant hyperthermia1RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0004370HP:0002047Malignant hyperthermia1RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesiaHP:0040282 - Frequent1200
HP:0004370HP:0001945Fever1RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesiaHP:0040282 - Frequent1200
HP:0004370HP:0002047Malignant hyperthermia1RYR1 CL E G H626110483OMIM:145600Malignant hyperthermia, susceptibility to, 1.1200
HP:0004370HP:0001945Fever1SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0004370HP:0002045Hypothermia1SCN10A CL E G H633610582ORPHA:90026Primary erythromelalgiaHP:0040283 - Occasional146
HP:0004370HP:0002045Hypothermia1SCN11A CL E G H1128010583ORPHA:90026Primary erythromelalgiaHP:0040283 - Occasional19
HP:0004370HP:0002047Malignant hyperthermia1SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysisHP:0040283 - Occasional263
HP:0004370HP:0002047Malignant hyperthermia1SCN5A CL E G H633110593OMIM:272120Sudden infant death syndrome.1134
HP:0004370HP:0002045Hypothermia1SCN9A CL E G H633510597ORPHA:90026Primary erythromelalgiaHP:0040283 - Occasional318
HP:0004370HP:0001945Fever1SCNN1A CL E G H633710599ORPHA:60033Idiopathic bronchiectasisHP:0040283 - Occasional67
HP:0004370HP:0001945Fever1SCNN1B CL E G H633810600ORPHA:60033Idiopathic bronchiectasisHP:0040283 - Occasional61
HP:0004370HP:0001945Fever1SCNN1G CL E G H634010602ORPHA:60033Idiopathic bronchiectasisHP:0040283 - Occasional57
HP:0004370HP:0001945Fever1SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0004370HP:0001945Fever1SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent
HP:0004370HP:0001945Fever1SH2B3 CL E G H1001929605OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included4
HP:0004370HP:0001945Fever1SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0004370HP:0001945Fever1SH3KBP1 CL E G H3001113867OMIM:300310Immunodeficiency 612
HP:0004370HP:0002046Heat intolerance1SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0004370HP:0005968Temperature instability1SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0004370HP:0005968Temperature instability1SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional67
HP:0004370HP:0005968Temperature instability1SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0004370HP:0005968Temperature instability1SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0004370HP:0005968Temperature instability1SHQ1 CL E G H5516425543OMIM:619922
HP:0004370HP:0005968Temperature instability1SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0004370HP:0005968Temperature instability1SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0004370HP:0005968Temperature instability1SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0004370HP:0005968Temperature instability1SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0004370HP:0001945Fever1SLC11A1 CL E G H655610907ORPHA:3389TuberculosisHP:0040282 - Frequent2
HP:0004370HP:0001945Fever1SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal.75
HP:0004370HP:0001945Fever1SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0004370HP:0005968Temperature instability1SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 2.2
HP:0004370HP:0001945Fever1SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2).110
HP:0004370HP:0001945Fever1SLC22A4 CL E G H658310968OMIM:180300RHEUMATOID ARTHRITIS; RA3
HP:0004370HP:0005968Temperature instability1SLC25A19 CL E G H6038614409ORPHA:99742Amish lethal microcephalyHP:0040282 - Frequent36
HP:0004370HP:0002045Hypothermia1SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiencyHP:0040283 - Occasional40
HP:0004370HP:0001945Fever1SLC29A3 CL E G H5531523096ORPHA:168569H syndrome68
HP:0004370HP:0001945Fever1SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0004370HP:0001945Fever1SLC34A2 CL E G H1056811020ORPHA:60025Pulmonary alveolar microlithiasisHP:0040284 - Very rare7
HP:0004370HP:0001945Fever1SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type II71
HP:0004370HP:0001945Fever1SLC41A1 CL E G H25442819429OMIM:619468NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0004370HP:0001945Fever1SLC4A1 CL E G H652111027ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional109
HP:0004370HP:0002045Hypothermia1SLC52A1 CL E G H5506530225OMIM:615026Riboflavin deficiency3
HP:0004370HP:0001945Fever1SLC5A1 CL E G H652311036ORPHA:35710Glucose-galactose malabsorptionHP:0040284 - Very rare74
HP:0004370HP:0002045Hypothermia1SLC5A5 CL E G H652811040ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional59
HP:0004370HP:0001945Fever1SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0004370HP:0005968Temperature instability1SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0004370HP:0005968Temperature instability1SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0004370HP:0005968Temperature instability1SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0004370HP:0001945Fever1SPINK1 CL E G H669011244OMIM:167800Pancreatitis, hereditary.34
HP:0004370HP:0001945Fever1SPP1 CL E G H669611255ORPHA:93552Pediatric systemic lupus erythematosusHP:0040282 - Frequent
HP:0004370HP:0005968Temperature instability1SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiencyHP:0040282 - Frequent28
HP:0004370HP:0001945Fever1SPTA1 CL E G H670811272ORPHA:288Hereditary elliptocytosisHP:0040284 - Very rare228
HP:0004370HP:0001945Fever1SPTA1 CL E G H670811272ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional228
HP:0004370HP:0001945Fever1SPTB CL E G H671011274ORPHA:288Hereditary elliptocytosisHP:0040284 - Very rare156
HP:0004370HP:0001945Fever1SPTB CL E G H671011274ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional156
HP:0004370HP:0001945Fever1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004370HP:0001945Fever1SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent
HP:0004370HP:0001945Fever1SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent1
HP:0004370HP:0002047Malignant hyperthermia1STAC3 CL E G H24632928423OMIM:255995Myopathy, congenital, bailey-bloch.14
HP:0004370HP:0002047Malignant hyperthermia1STAC3 CL E G H24632928423ORPHA:168572Native American myopathyHP:0040282 - Frequent14
HP:0004370HP:0005968Temperature instability1STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0004370HP:0005968Temperature instability1STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0004370HP:0001945Fever1STAT1 CL E G H677211362OMIM:614162Immunodeficiency 31C89
HP:0004370HP:0001945Fever1STAT2 CL E G H677311363OMIM:618886PSEUDO-TORCH SYNDROME 3; PTORCH39
HP:0004370HP:0001945Fever1STAT3 CL E G H677411364ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent110
HP:0004370HP:0001945Fever1STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndromeHP:0040283 - Occasional110
HP:0004370HP:0001945Fever1STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040281 - Very frequent2
HP:0004370HP:0001945Fever1STAT4 CL E G H677511365ORPHA:93552Pediatric systemic lupus erythematosusHP:0040282 - Frequent2
HP:0004370HP:0001945Fever1STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis2
HP:0004370HP:0001945Fever1STAT5B CL E G H677711367ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent12
HP:0004370HP:0001945Fever1STAT6 CL E G H677811368ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare1
HP:0004370HP:0005968Temperature instability1STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0004370HP:0005968Temperature instability1STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional99
HP:0004370HP:0005968Temperature instability1STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0004370HP:0005968Temperature instability1STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0004370HP:0001945Fever1STIM1 CL E G H678611386OMIM:612783Immunodeficiency 1031
HP:0004370HP:0001945Fever1STING1 CL E G H34006127962OMIM:615934STING-associated vasculopathy, infantile-onset
HP:0004370HP:0001945Fever1STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040281 - Very frequent85
HP:0004370HP:0001945Fever1STX11 CL E G H867611429OMIM:603552HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL485
HP:0004370HP:0001945Fever1STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040281 - Very frequent70
HP:0004370HP:0001945Fever1STXBP2 CL E G H681311445OMIM:613101HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL570
HP:0004370HP:0002045Hypothermia1SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040283 - Occasional60
HP:0004370HP:0002045Hypothermia1SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0004370HP:0001945Fever1SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0004370HP:0001945Fever1TBC1D8B CL E G H5488524715ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional1
HP:0004370HP:0002045Hypothermia1TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040283 - Occasional13
HP:0004370HP:0001945Fever1TBK1 CL E G H2911011584ORPHA:1930Herpes simplex virus encephalitisHP:0040282 - Frequent20
HP:0004370HP:0001945Fever1TBL1XR1 CL E G H7971829529ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent22
HP:0004370HP:0001945Fever1TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent2
HP:0004370HP:0001945Fever1TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent241
HP:0004370HP:0001945Fever1TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent82
HP:0004370HP:0005968Temperature instability1TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0004370HP:0005968Temperature instability1TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional1
HP:0004370HP:0005968Temperature instability1TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0004370HP:0005968Temperature instability1TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0004370HP:0001945Fever1TET2 CL E G H5479025941ORPHA:824Primary myelofibrosisHP:0040283 - Occasional3
HP:0004370HP:0001945Fever1TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent3
HP:0004370HP:0002045Hypothermia1TG CL E G H703811764ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional155
HP:0004370HP:0005968Temperature instability1TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0004370HP:0005968Temperature instability1TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0004370HP:0005968Temperature instability1TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0004370HP:0005968Temperature instability1TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0004370HP:0001945Fever1TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040283 - Occasional80
HP:0004370HP:0001945Fever1TICAM1 CL E G H14802218348ORPHA:1930Herpes simplex virus encephalitisHP:0040282 - Frequent6
HP:0004370HP:0001945Fever1TLR3 CL E G H709811849ORPHA:1930Herpes simplex virus encephalitisHP:0040282 - Frequent3
HP:0004370HP:0001945Fever1TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040281 - Very frequent3
HP:0004370HP:0001945Fever1TLR7 CL E G H5128415631OMIM:301080
HP:0004370HP:0001945Fever1TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK24
HP:0004370HP:0001945Fever1TNFAIP3 CL E G H712811896OMIM:616744AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL26
HP:0004370HP:0001945Fever1TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0004370HP:0001945Fever1TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndrome131
HP:0004370HP:0001945Fever1TP53 CL E G H715711998ORPHA:668OsteosarcomaHP:0040284 - Very rare911
HP:0004370HP:0002045Hypothermia1TPO CL E G H717312015ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional92
HP:0004370HP:0001945Fever1TRAF3 CL E G H718712033ORPHA:1930Herpes simplex virus encephalitisHP:0040282 - Frequent2
HP:0004370HP:0002047Malignant hyperthermia1TRAF6 CL E G H718912036ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional
HP:0004370HP:0002047Malignant hyperthermia1TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeHP:0040281 - Very frequent158
HP:0004370HP:0001945Fever1TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0004370HP:0001945Fever1TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 1.56
HP:0004370HP:0001945Fever1TRIM28 CL E G H1015516384ORPHA:654NephroblastomaHP:0040283 - Occasional2
HP:0004370HP:0001945Fever1TRIP13 CL E G H931912307ORPHA:654NephroblastomaHP:0040283 - Occasional2
HP:0004370HP:0001945Fever1TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0004370HP:0001945Fever1TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0004370HP:0001945Fever1TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0002045Hypothermia1TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0001945Fever1TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0004370HP:0002045Hypothermia1TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0001945Fever1TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0001945Fever1TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0004370HP:0001945Fever1TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0004370HP:0001945Fever1TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0004370HP:0001945Fever1TRNT1 CL E G H5109517341OMIM:616084SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD28
HP:0004370HP:0002045Hypothermia1TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0001945Fever1TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0001945Fever1TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0004370HP:0001945Fever1TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0002045Hypothermia1TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0004370HP:0001945Fever1TRPC6 CL E G H722512338ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional107
HP:0004370HP:0001945Fever1TSC1 CL E G H724812362ORPHA:538LymphangioleiomyomatosisHP:0040283 - Occasional1090
HP:0004370HP:0001945Fever1TSC2 CL E G H724912363ORPHA:538LymphangioleiomyomatosisHP:0040283 - Occasional2738
HP:0004370HP:0002045Hypothermia1TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiencyHP:0040282 - Frequent9
HP:0004370HP:0002045Hypothermia1TSHR CL E G H725312373ORPHA:90673Hypothyroidism due to TSH receptor mutationsHP:0040284 - Very rare97
HP:0004370HP:0001945Fever1TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040283 - Occasional2
HP:0004370HP:0002045Hypothermia1TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome1
HP:0004370HP:0002045Hypothermia1TSPYL1 CL E G H725912382ORPHA:168593Sudden infant death-dysgenesis of the testes syndromeHP:0040281 - Very frequent1
HP:0004370HP:0001945Fever1UBA1 CL E G H731712469OMIM:301054VEXAS SYNDROME; VEXAS35
HP:0004370HP:0001945Fever1UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0004370HP:0002046Heat intolerance1UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040283 - Occasional278
HP:0004370HP:0002046Heat intolerance1UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional278
HP:0004370HP:0002046Heat intolerance1UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15HP:0040283 - Occasional278
HP:0004370HP:0001945Fever1UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040281 - Very frequent116
HP:0004370HP:0001945Fever1UNC13D CL E G H20129423147OMIM:608898HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3116
HP:0004370HP:0001945Fever1UNC93B1 CL E G H8162213481ORPHA:1930Herpes simplex virus encephalitisHP:0040282 - Frequent5
HP:0004370HP:0002045Hypothermia1UQCRFS1 CL E G H738612587OMIM:618775MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0004370HP:0001945Fever1VANGL2 CL E G H5721615511ORPHA:563609Isolated anencephaly2
HP:0004370HP:0001945Fever1VANGL2 CL E G H5721615511ORPHA:563612Isolated exencephaly2
HP:0004370HP:0005968Temperature instability1VPS11 CL E G H5582314583OMIM:616683Leukodystrophy, hypomyelinating, 121
HP:0004370HP:0001945Fever1WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent65
HP:0004370HP:0001945Fever1WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0004370HP:0001945Fever1WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent6
HP:0004370HP:0001945Fever1WT1 CL E G H749012796ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional177
HP:0004370HP:0001945Fever1WT1 CL E G H749012796ORPHA:654NephroblastomaHP:0040283 - Occasional177
HP:0004370HP:0001945Fever1XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0004370HP:0001945Fever1XIAP CL E G H331592OMIM:300635Lymphoproliferative syndrome, X-linked, 281
HP:0004370HP:0001945Fever1XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent34
HP:0004370HP:0001945Fever1XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent86
HP:0004370HP:0001945Fever1ZBTB16 CL E G H770412930ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent1
HP:0004370HP:0001945Fever1ZFHX2 CL E G H8544620152OMIM:147430Marsili syndrome
HP:0004370HP:0001945Fever1ZFYVE19 CL E G H8493620758OMIM:619849
HP:0004370HP:0005968Temperature instability1ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0004370HP:0005968Temperature instability1ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional34
HP:0004370HP:0005968Temperature instability1ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0004370HP:0005968Temperature instability1ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34
HP:0004370HP:0001945Fever1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0004370HP:0001945Fever1ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0004370HP:0001954Recurrent fever2ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0004370HP:0001954Recurrent fever2ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0004370HP:0001955Unexplained fevers2ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent116
HP:0004370HP:0001954Recurrent fever2ALPK1 CL E G H8021620917OMIM:614979Splenomegaly, cytopenia, and vision loss
HP:0004370HP:0011134Low-grade fever2ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0004370HP:0001955Unexplained fevers2AQP2 CL E G H359634OMIM:125800Diabetes insipidus, nephrogenic, 2.75
HP:0004370HP:0001954Recurrent fever2ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040283 - Occasional78
HP:0004370HP:0001954Recurrent fever2ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis78
HP:0004370HP:0001955Unexplained fevers2AVPR2 CL E G H554897OMIM:304800Diabetes insipidus, nephrogenic, X-linked.67
HP:0004370HP:0001954Recurrent fever2BCAP31 CL E G H1013416695ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndromeHP:0040282 - Frequent8
HP:0004370HP:0001954Recurrent fever2C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0004370HP:0001954Recurrent fever2C3 CL E G H7181318OMIM:613779Complement component 3 deficiency, autosomal recessive92
HP:0004370HP:0011134Low-grade fever2CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040283 - Occasional1
HP:0004370HP:0011134Low-grade fever2CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional8
HP:0004370HP:0001954Recurrent fever2CD70 CL E G H97011937OMIM:618261LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0004370HP:0001954Recurrent fever2CEBPE CL E G H10531836OMIM:260570Pelger-Huet-Like anomaly and episodic fever with abdominal pain.3
HP:0004370HP:0001954Recurrent fever2COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndromeHP:0040282 - Frequent71
HP:0004370HP:0001954Recurrent fever2COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0004370HP:0001954Recurrent fever2CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0004370HP:0001954Recurrent fever2CYP11B2 CL E G H15852592OMIM:203400Corticosterone methyloxidase type I deficiency.73
HP:0004370HP:0001954Recurrent fever2CYP21A2 CL E G H15892600OMIM:201910Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency.86
HP:0004370HP:0005964Intermittent hypothermia2DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital.80
HP:0004370HP:0005964Intermittent hypothermia2DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency.43
HP:0004370HP:0001954Recurrent fever2DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004370HP:0001954Recurrent fever2DNASE2 CL E G H17772960OMIM:619858
HP:0004370HP:0001954Recurrent fever2DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0004370HP:0033031Hyperpyrexia2DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0004370HP:0001954Recurrent fever2ELANE CL E G H19913309ORPHA:2686Cyclic neutropeniaHP:0040282 - Frequent79
HP:0004370HP:0001954Recurrent fever2ELF4 CL E G H20003319OMIM:301074AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL21
HP:0004370HP:0001954Recurrent fever2ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III.133
HP:0004370HP:0001954Recurrent fever2FOCAD CL E G H5491423377OMIM:6199913
HP:0004370HP:0001955Unexplained fevers2GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040281 - Very frequent160
HP:0004370HP:0001954Recurrent fever2GALC CL E G H25814115OMIM:245200Krabbe disease.160
HP:0004370HP:0001954Recurrent fever2GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B.86
HP:0004370HP:0001954Recurrent fever2H4C5 CL E G H83674790OMIM:619950
HP:0004370HP:0001954Recurrent fever2HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040283 - Occasional580
HP:0004370HP:0001954Recurrent fever2HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040283 - Occasional580
HP:0004370HP:0001954Recurrent fever2HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0004370HP:0001954Recurrent fever2HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0004370HP:0001954Recurrent fever2HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0004370HP:0001954Recurrent fever2IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 3.16
HP:0004370HP:0001955Unexplained fevers2IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent28
HP:0004370HP:0001954Recurrent fever2IFIH1 CL E G H6413518873OMIM:619773IMMUNODEFICIENCY 95; IMD9528
HP:0004370HP:0011134Low-grade fever2IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional65
HP:0004370HP:0011134Low-grade fever2IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0004370HP:0001954Recurrent fever2IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiencyHP:0040281 - Very frequent48
HP:0004370HP:0001954Recurrent fever2ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0004370HP:0011134Low-grade fever2JAK2 CL E G H37176192ORPHA:824Primary myelofibrosisHP:0040283 - Occasional57
HP:0004370HP:0001954Recurrent fever2LACC1 CL E G H14481126789OMIM:618795JUVENILE ARTHRITIS; JUVAR1
HP:0004370HP:0001955Unexplained fevers2LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional116
HP:0004370HP:0001955Unexplained fevers2LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional167
HP:0004370HP:0001955Unexplained fevers2LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional135
HP:0004370HP:0001954Recurrent fever2LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndromeHP:0040281 - Very frequent144
HP:0004370HP:0001954Recurrent fever2LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0004370HP:0001954Recurrent fever2LPIN2 CL E G H966314450OMIM:609628MAJEED SYNDROME; MJDS186
HP:0004370HP:0001955Unexplained fevers2LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0004370HP:0001954Recurrent fever2MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0004370HP:0001954Recurrent fever2MEFV CL E G H42106998OMIM:134610FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT281
HP:0004370HP:0001954Recurrent fever2MEFV CL E G H42106998OMIM:608068NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE281
HP:0004370HP:0001954Recurrent fever2MEFV CL E G H42106998ORPHA:3243Sweet syndrome281
HP:0004370HP:0011134Low-grade fever2MPL CL E G H43527217ORPHA:824Primary myelofibrosisHP:0040283 - Occasional97
HP:0004370HP:0030244Maternal fever in pregnancy2MTHFR CL E G H45247436ORPHA:563609Isolated anencephalyHP:0040283 - Occasional183
HP:0004370HP:0030244Maternal fever in pregnancy2MTHFR CL E G H45247436ORPHA:563612Isolated exencephalyHP:0040283 - Occasional183
HP:0004370HP:0001954Recurrent fever2MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0004370HP:0001954Recurrent fever2MVK CL E G H45987530ORPHA:343Hyperimmunoglobulinemia D with periodic feverHP:0040281 - Very frequent150
HP:0004370HP:0001954Recurrent fever2NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0004370HP:0001954Recurrent fever2NGF CL E G H48037808OMIM:608654Neuropathy, hereditary sensory and autonomic, type VHP:0040283 - Occasional20
HP:0004370HP:0001955Unexplained fevers2NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040284 - Very rare51
HP:0004370HP:0001954Recurrent fever2NLRC4 CL E G H5848416412OMIM:616050AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC30
HP:0004370HP:0001954Recurrent fever2NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0004370HP:0001954Recurrent fever2NLRP12 CL E G H9166222938OMIM:611762Familial cold autoinflammatory syndrome 299
HP:0004370HP:0001954Recurrent fever2NLRP3 CL E G H11454816400OMIM:607115CINCA SYNDROME; CINCA217
HP:0004370HP:0001954Recurrent fever2NLRP3 CL E G H11454816400OMIM:617772Deafness, autosomal dominant 34, with or without inflammation217
HP:0004370HP:0001954Recurrent fever2NLRP3 CL E G H11454816400OMIM:120100FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1217
HP:0004370HP:0001954Recurrent fever2NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome217
HP:0004370HP:0001954Recurrent fever2NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0004370HP:0001955Unexplained fevers2NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040283 - Occasional97
HP:0004370HP:0001954Recurrent fever2NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040282 - Frequent97
HP:0004370HP:0001954Recurrent fever2NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0004370HP:0001954Recurrent fever2ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 9.19
HP:0004370HP:0001954Recurrent fever2OTULIN CL E G H9026825118OMIM:617099AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS3
HP:0004370HP:0001954Recurrent fever2PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B.98
HP:0004370HP:0001954Recurrent fever2PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathyHP:0040282 - Frequent79
HP:0004370HP:0001954Recurrent fever2PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 258
HP:0004370HP:0001954Recurrent fever2PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0004370HP:0001955Unexplained fevers2PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040281 - Very frequent81
HP:0004370HP:0001954Recurrent fever2PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3
HP:0004370HP:0001954Recurrent fever2PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0004370HP:0001954Recurrent fever2PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3
HP:0004370HP:0001954Recurrent fever2PSMG2 CL E G H5698424929OMIM:619183PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0004370HP:0011134Low-grade fever2PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0004370HP:0011134Low-grade fever2PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional3
HP:0004370HP:0001954Recurrent fever2PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A.19
HP:0004370HP:0001954Recurrent fever2QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C.43
HP:0004370HP:0001954Recurrent fever2RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency10
HP:0004370HP:0001954Recurrent fever2REL CL E G H59669954OMIM:619652IMMUNODEFICIENCY 92; IMD921
HP:0004370HP:0001954Recurrent fever2RIPK1 CL E G H873710019OMIM:618852AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0004370HP:0001955Unexplained fevers2RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent33
HP:0004370HP:0001955Unexplained fevers2RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent34
HP:0004370HP:0001955Unexplained fevers2RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent60
HP:0004370HP:0001954Recurrent fever2RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndromeHP:0040282 - Frequent7
HP:0004370HP:0001954Recurrent fever2RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0004370HP:0001955Unexplained fevers2RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0004370HP:0001955Unexplained fevers2SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent55
HP:0004370HP:0001954Recurrent fever2SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0004370HP:0001954Recurrent fever2SH3KBP1 CL E G H3001113867OMIM:300310Immunodeficiency 61.2
HP:0004370HP:0001954Recurrent fever2SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0004370HP:0001954Recurrent fever2SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040283 - Occasional68
HP:0004370HP:0001954Recurrent fever2SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040282 - Frequent71
HP:0004370HP:0001954Recurrent fever2SLC41A1 CL E G H25442819429OMIM:619468NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0004370HP:0001954Recurrent fever2SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004370HP:0001954Recurrent fever2STAT2 CL E G H677311363OMIM:618886PSEUDO-TORCH SYNDROME 3; PTORCH39
HP:0004370HP:0011134Low-grade fever2STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0004370HP:0001954Recurrent fever2STIM1 CL E G H678611386OMIM:612783Immunodeficiency 10.31
HP:0004370HP:0001954Recurrent fever2STING1 CL E G H34006127962OMIM:615934STING-associated vasculopathy, infantile-onset
HP:0004370HP:0001954Recurrent fever2STX11 CL E G H867611429OMIM:603552HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL485
HP:0004370HP:0001954Recurrent fever2STXBP2 CL E G H681311445OMIM:613101HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL570
HP:0004370HP:0001954Recurrent fever2SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0004370HP:0011134Low-grade fever2TET2 CL E G H5479025941ORPHA:824Primary myelofibrosisHP:0040283 - Occasional3
HP:0004370HP:0001954Recurrent fever2TLR7 CL E G H5128415631OMIM:301080
HP:0004370HP:0001955Unexplained fevers2TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIKHP:0040283 - Occasional24
HP:0004370HP:0001954Recurrent fever2TNFAIP3 CL E G H712811896OMIM:616744AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL26
HP:0004370HP:0001954Recurrent fever2TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0004370HP:0001954Recurrent fever2TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040281 - Very frequent131
HP:0004370HP:0001955Unexplained fevers2TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent56
HP:0004370HP:0001954Recurrent fever2TRNT1 CL E G H5109517341OMIM:616084SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD28
HP:0004370HP:0001954Recurrent fever2UBA1 CL E G H731712469OMIM:301054VEXAS SYNDROME; VEXAS35
HP:0004370HP:0030244Maternal fever in pregnancy2VANGL2 CL E G H5721615511ORPHA:563609Isolated anencephalyHP:0040283 - Occasional2
HP:0004370HP:0030244Maternal fever in pregnancy2VANGL2 CL E G H5721615511ORPHA:563612Isolated exencephalyHP:0040283 - Occasional2
HP:0004370HP:0001954Recurrent fever2WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0004370HP:0001954Recurrent fever2XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0004370HP:0001954Recurrent fever2XIAP CL E G H331592OMIM:300635Lymphoproliferative syndrome, X-linked, 2.81
HP:0004370HP:0001954Recurrent fever2ZFHX2 CL E G H8544620152OMIM:147430Marsili syndrome
HP:0004370HP:0001954Recurrent fever2ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0004370HP:0033399Persistent fever2ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0004370HP:0030245Intrapartum fever3 CL E G H
HP:0004370HP:0030246Maternal first trimester fever3 CL E G H
HP:0004370HP:0032323Periodic fever3ELANE CL E G H19913309ORPHA:2686Cyclic neutropeniaHP:0040282 - Frequent79
HP:0004370HP:0032323Periodic fever3LACC1 CL E G H14481126789OMIM:618795JUVENILE ARTHRITIS; JUVAR1
HP:0004370HP:0032324Non-periodic recurrent fever3MEFV CL E G H42106998ORPHA:3243Sweet syndromeHP:0040282 - Frequent281
HP:0004370HP:0032323Periodic fever3NLRP3 CL E G H11454816400OMIM:617772Deafness, autosomal dominant 34, with or without inflammation.217
HP:0004370HP:0032323Periodic fever3TRNT1 CL E G H5109517341OMIM:616084SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD28
HP:0004370HP:0033087Quotidian fever4LACC1 CL E G H14481126789OMIM:618795JUVENILE ARTHRITIS; JUVAR1


Genes (513) :ABCA12 ABCC2 ABCC6 ABL1 ACADSB ACADVL ACAT1 ACTN4 ADA ADA2 ADAMTS13 ADAR AK2 ALDOA ALG11 ALOXE3 ALPK1 ALPL ANK1 ANKFY1 ANKRD55 ANLN APOL1 AQP2 ARHGAP24 ARHGDIA ARL3 ASAH1 ASXL1 ATM ATP13A2 ATP1A2 ATP2A1 ATP6 ATP7A ATXN3 AVP AVPR2 BACH2 BCAP31 BCL10 BCL2 BCL6 BCOR BCR BIN1 BIRC3 BLNK BRAT1 BRCA1 BRCA2 BTK BTNL2 C2ORF69 C3 C4A CACNA1A CACNA1S CALR CASK CCND1 CCR1 CD244 CD247 CD27 CD2AP CD3D CD3E CD70 CD79A CD79B CDON CEBPE CFH CFHR1 CFHR3 CFTR CHD7 CHEK2 CHRNA1 CHRND CHRNG CIITA CLCF1 CLCN6 CLCN7 CLDN10 CLEC7A CLPB COA6 COG6 COG7 COL1A1 COL4A3 COQ8B COX1 COX2 COX3 CPT2 CR2 CRB2 CRLF1 CTLA4 CTRC CYBA CYBB CYBC1 CYP11B2 CYP21A2 CYTB DAAM2 DBH DCLRE1C DDB2 DDC DEF6 DGUOK DIS3L2 DISP1 DLL1 DNASE2 DNM2 DOCK2 DST DUOX2 DUOXA2 EDA EDAR EDARADD EIF2AK3 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ELANE ELF4 ELP1 EMP2 ENPP1 EPB41 EPB42 ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 F5 FAH FAS FBP1 FCGR3B FGF8 FGFR1 FIP1L1 FOCAD FOXH1 FOXP1 G6PD GAA GABRA2 GALC GAPVD1 GAS1 GATA2 GCH1 GFI1 GLA GLI2 GPC3 GPR35 GYPC H19 H4C5 HAVCR2 HBB HEPHL1 HERC2 HESX1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMBS HMGCL HNRNPK HSPG2 HTR1A IBA57 IFIH1 IFNG IFNGR1 IGH IGHM IGLL1 IKZF1 IL10 IL12A IL12A-AS1 IL12B IL17F IL17RA IL17RC IL23R IL2RA IL2RB IL2RG IL36RN IL6 IL6R IL7R INF2 IPW IRAK1 IRF2BP2 IRF4 IRF8 ITK ITPR2 IYD JAK2 KCNJ1 KDF1 KIF1B KIT KLHL7 KLRC4 KRT14 KRT18 KRT5 LACC1 LAMA3 LAMB3 LAMC2 LBR LBX1 LDHA LHX3 LHX4 LIFR LIG4 LIPA LMNB1 LPIN1 LPIN2 LRRC8A LSM11 LYST MADD MAGEL2 MAGI2 MALT1 MAP2K1 MAP2K2 MBTPS2 MCM10 MEFV MICOS13 MIF MKRN3 MKRN3-AS1 MLX MMACHC MPL MST1 MTHFR MTMR14 MVK MYD88 MYF6 MYH3 MYO1E MYO1H NAB2 NABP1 NALCN NAXD NCF1 NCF2 NCF4 ND1 ND2 ND3 ND4 ND5 ND6 NECTIN4 NFKBIA NFKBIL1 NGF NGLY1 NKX2-1 NLRC4 NLRP1 NLRP12 NLRP3 NOD2 NODAL NPAP1 NPHS1 NPHS2 NPM1 NTRK1 NUMA1 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OCA2 ORAI1 OTULIN P4HA2 P4HTM PAX2 PAX8 PEX6 PGM1 PHOX2B PIK3CG PIK3R1 PKHD1 PLA2G6 PLCE1 PLCH1 PML PMM2 PMP22 POFUT1 POGLUT1 POLR3A POMP POU1F1 POU6F2 PRF1 PRKAR1A PRKCD PRNP PROP1 PRSS1 PRSS2 PRTN3 PSAP PSENEN PSMB10 PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTCH1 PTPN2 PTPN22 PTPN3 PTPRC PTPRO PTS PWAR1 PWRN1 QDPR RAB27A RAG1 RAG2 RANBP2 RARA RB1 RBCK1 REL REST RIPK1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF168 RNU4ATAC RNU7-1 RUNX1 RYR1 SAMHD1 SCN10A SCN11A SCN4A SCN5A SCN9A SCNN1A SCNN1B SCNN1G SCYL1 SEMA4D SH2B3 SH2D1A SH3KBP1 SHANK3 SHH SHQ1 SIX3 SLC11A1 SLC12A1 SLC12A3 SLC18A2 SLC19A3 SLC22A4 SLC25A19 SLC25A20 SLC29A3 SLC34A2 SLC35C1 SLC41A1 SLC4A1 SLC52A1 SLC5A1 SLC5A5 SMARCAL1 SMC1A SNORD115-1 SNORD116-1 SNX10 SPINK1 SPP1 SPR SPTA1 SPTB SPTBN1 SRP54 SRSF2 STAC3 STAG2 STAT1 STAT2 STAT3 STAT4 STAT5B STAT6 STIL STIM1 STING1 STX11 STXBP2 SUCLG1 SYK TBC1D8B TBCK TBK1 TBL1XR1 TBX3 TCF3 TCF4 TCIRG1 TDGF1 TET2 TG TGIF1 TH TICAM1 TLR3 TLR4 TLR7 TMEM165 TNFAIP3 TNFRSF1A TNFSF11 TP53 TPO TRAF3 TRAF3IP2 TRAF6 TRAPPC9 TREX1 TRIM28 TRIP13 TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNT1 TRNV TRNW TRPC6 TSC1 TSC2 TSHB TSHR TSPOAP1 TSPYL1 UBA1 UBAC2 UBE3A UNC13D UNC93B1 UQCRFS1 VANGL2 VPS11 WAS WDR1 WIPF1 WT1 XIAP XPA XPC ZBTB16 ZFHX2 ZFYVE19 ZIC2 ZNF699 ZNFX1

Diseases (351) :ORPHA:457 ORPHA:234 ORPHA:51608 ORPHA:521 OMIM:610006 ORPHA:26793 ORPHA:134 ORPHA:656 ORPHA:39041 OMIM:102700 OMIM:615688 OMIM:274150 ORPHA:51 ORPHA:33355 ORPHA:57 ORPHA:280071 OMIM:613661 OMIM:606545 OMIM:614979 OMIM:241500 ORPHA:822 ORPHA:85408 OMIM:125800 ORPHA:223 OMIM:618161 ORPHA:333 OMIM:228000 ORPHA:98849 ORPHA:52416 ORPHA:306674 OMIM:602481 OMIM:601003 ORPHA:255210 OMIM:309400 ORPHA:565 ORPHA:198 ORPHA:276238 ORPHA:276241 ORPHA:276244 ORPHA:30925 OMIM:304800 OMIM:618394 ORPHA:369939 ORPHA:52417 ORPHA:545 ORPHA:520 ORPHA:169189 ORPHA:33110 OMIM:614498 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 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:260570 OMIM:235400 ORPHA:60033 OMIM:167800 ORPHA:668 OMIM:253290 ORPHA:1545 OMIM:619173 ORPHA:667 OMIM:617671 ORPHA:1334 ORPHA:486 OMIM:616501 ORPHA:363523 ORPHA:79333 ORPHA:1310 OMIM:114000 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:230 OMIM:223360 ORPHA:910 OMIM:608643 OMIM:619573 OMIM:251880 OMIM:619858 OMIM:616433 OMIM:614653 ORPHA:95716 ORPHA:226316 OMIM:305100 ORPHA:1810 OMIM:129490 OMIM:224900 ORPHA:1667 OMIM:603896 ORPHA:2686 OMIM:162800 OMIM:301074 ORPHA:1764 OMIM:223900 ORPHA:288 ORPHA:90321 OMIM:276700 OMIM:229700 ORPHA:464370 OMIM:619991 OMIM:232300 OMIM:618557 ORPHA:206436 OMIM:245200 ORPHA:3226 OMIM:233910 ORPHA:324 ORPHA:171 OMIM:619950 ORPHA:86884 OMIM:618398 ORPHA:231214 ORPHA:231226 OMIM:261990 OMIM:176270 ORPHA:226307 ORPHA:397 ORPHA:29207 ORPHA:36426 ORPHA:3287 ORPHA:747 OMIM:181000 ORPHA:85414 ORPHA:79276 ORPHA:20 OMIM:246450 ORPHA:352665 ORPHA:453504 ORPHA:800 OMIM:255800 OMIM:614674 OMIM:615330 OMIM:615846 OMIM:619773 OMIM:618963 OMIM:209950 ORPHA:276 OMIM:614204 OMIM:618944 ORPHA:169154 ORPHA:93552 ORPHA:3452 OMIM:614893 OMIM:226990 ORPHA:319600 OMIM:613011 OMIM:106190 OMIM:241200 OMIM:256700 OMIM:617055 ORPHA:79400 OMIM:161000 ORPHA:69087 OMIM:215600 ORPHA:79145 OMIM:618795 ORPHA:79404 ORPHA:779 OMIM:619483 ORPHA:284426 ORPHA:3206 OMIM:601559 ORPHA:75233 ORPHA:99027 OMIM:268200 ORPHA:77297 OMIM:609628 ORPHA:167 OMIM:619004 ORPHA:398069 OMIM:615279 OMIM:615280 ORPHA:2273 OMIM:619313 ORPHA:342 OMIM:249100 OMIM:134610 OMIM:608068 ORPHA:3243 OMIM:618329 ORPHA:79282 ORPHA:563609 ORPHA:563612 OMIM:260920 ORPHA:343 ORPHA:183713 ORPHA:33226 OMIM:193700 ORPHA:2053 OMIM:619482 ORPHA:2126 OMIM:618321 OMIM:613573 OMIM:612132 OMIM:608654 OMIM:615273 ORPHA:209905 OMIM:616050 OMIM:616115 OMIM:617388 OMIM:611762 ORPHA:1451 OMIM:607115 OMIM:617772 OMIM:120100 ORPHA:47045 ORPHA:575 OMIM:191900 ORPHA:90340 OMIM:617321 ORPHA:642 OMIM:256800 ORPHA:98794 OMIM:612782 OMIM:617099 OMIM:618493 OMIM:218700 OMIM:614863 OMIM:614921 OMIM:209880 OMIM:619802 ORPHA:53035 ORPHA:35069 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:597 OMIM:117000 ORPHA:424107 ORPHA:466650 OMIM:619542 OMIM:145600 ORPHA:90026 ORPHA:682 OMIM:272120 ORPHA:466794 OMIM:308240 OMIM:300310 OMIM:606232 OMIM:619922 ORPHA:3389 OMIM:601678 OMIM:263800 OMIM:618049 OMIM:607483 ORPHA:99742 ORPHA:159 ORPHA:168569 OMIM:602782 ORPHA:60025 ORPHA:99843 OMIM:619468 OMIM:615026 ORPHA:35710 OMIM:242900 ORPHA:70594 OMIM:619475 OMIM:255995 ORPHA:168572 OMIM:614162 OMIM:618886 ORPHA:2314 OMIM:612783 OMIM:615934 OMIM:603552 OMIM:613101 ORPHA:17 OMIM:245400 OMIM:619381 ORPHA:488632 ORPHA:1930 ORPHA:3138 ORPHA:101150 OMIM:301080 OMIM:614727 OMIM:616744 OMIM:142680 ORPHA:32960 ORPHA:352530 OMIM:225750 OMIM:616084 ORPHA:538 ORPHA:90674 ORPHA:90673 OMIM:608800 ORPHA:168593 OMIM:301054 ORPHA:411511 ORPHA:98795 OMIM:608898 OMIM:618775 OMIM:616683 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.