Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:457 | Harlequin ichthyosis | | | | 130 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ABCC2 CL E G H | 1244 | 53 | ORPHA:234 | Dubin-Johnson syndrome | | | | 119 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | | | | 415 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ABL1 CL E G H | 25 | 76 | ORPHA:521 | Chronic myeloid leukemia | | | | 51 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ACADSB CL E G H | 36 | 91 | OMIM:610006 | 2-Methylbutyryl-Coa dehydrogenase deficiency | | | | 111 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | | | | 91 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ACTN4 CL E G H | 81 | 166 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 27 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | | | | 75 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | | | | 75 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ADAMTS13 CL E G H | 11093 | 1366 | OMIM:274150 | Thrombotic thrombocytopenic purpura, hereditary | | | | 129 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 116 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | AK2 CL E G H | 204 | 362 | ORPHA:33355 | Reticular dysgenesis | | | | 19 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ALDOA CL E G H | 226 | 414 | ORPHA:57 | Glycogen storage disease due to aldolase A deficiency | | | | 50 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ALG11 CL E G H | 440138 | 32456 | ORPHA:280071 | ALG11-CDG | | | | 41 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ALG11 CL E G H | 440138 | 32456 | OMIM:613661 | Congenital disorder of glycosylation, type Ip | | | | 41 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:606545 | Ichthyosis, congenital, autosomal recessive 3 | | | | 63 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ALPK1 CL E G H | 80216 | 20917 | OMIM:614979 | Splenomegaly, cytopenia, and vision loss | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ALPL CL E G H | 249 | 438 | OMIM:241500 | Hypophosphatasia, infantile | | | | 126 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | | | | 150 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ANKFY1 CL E G H | 51479 | 20763 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ANLN CL E G H | 54443 | 14082 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 6 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | APOL1 CL E G H | 8542 | 618 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | AQP2 CL E G H | 359 | 634 | OMIM:125800 | Diabetes insipidus, nephrogenic, 2 | | | | 75 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | AQP2 CL E G H | 359 | 634 | ORPHA:223 | Nephrogenic diabetes insipidus | | | | 75 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ARHGAP24 CL E G H | 83478 | 25361 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 4 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ARHGDIA CL E G H | 396 | 678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | | | | 78 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:228000 | Farber lipogranulomatosis | | | | 78 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 145 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ATM CL E G H | 472 | 795 | ORPHA:52416 | Mantle cell lymphoma | | | | 3267 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:602481 | Migraine, familial hemiplegic, 2 | | | | 239 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ATP2A1 CL E G H | 487 | 811 | OMIM:601003 | BRODY MYOPATHY | | | | 80 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ATP7A CL E G H | 538 | 869 | OMIM:309400 | Menkes disease | | | | 192 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | | | | 192 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | | | | 192 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | HP:0040283 - Occasional | | | 14 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | HP:0040283 - Occasional | | | 14 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | HP:0040283 - Occasional | | | 14 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | AVP CL E G H | 551 | 894 | ORPHA:30925 | Hereditary central diabetes insipidus | | | | 22 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | AVPR2 CL E G H | 554 | 897 | OMIM:304800 | Diabetes insipidus, nephrogenic, X-linked | | | | 67 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | AVPR2 CL E G H | 554 | 897 | ORPHA:223 | Nephrogenic diabetes insipidus | | | | 67 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | BCAP31 CL E G H | 10134 | 16695 | ORPHA:369939 | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | | | | 8 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | BCL10 CL E G H | 8915 | 989 | ORPHA:52417 | MALT lymphoma | | | | 18 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | BCL2 CL E G H | 596 | 990 | ORPHA:545 | Follicular lymphoma | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | BCL6 CL E G H | 604 | 1001 | ORPHA:545 | Follicular lymphoma | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | | | | 101 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | BCR CL E G H | 613 | 1014 | ORPHA:521 | Chronic myeloid leukemia | | | | 5 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 99 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | BIRC3 CL E G H | 330 | 591 | ORPHA:52417 | MALT lymphoma | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 4 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | | | | 20 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:70567 | Cholangiocarcinoma | | | | 5769 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:70567 | Cholangiocarcinoma | | | | 7642 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:654 | Nephroblastoma | | | | 7642 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | | | | 109 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | C2ORF69 CL E G H | 205327 | 26799 | OMIM:619423 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53 | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | C3 CL E G H | 718 | 1318 | OMIM:613779 | Complement component 3 deficiency, autosomal recessive | | | | 92 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:141500 | Migraine, familial hemiplegic, 1 | | | | 449 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 247 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CACNA1S CL E G H | 779 | 1397 | OMIM:601887 | Malignant hyperthermia, susceptibility to, 5 | | | | 247 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CALR CL E G H | 811 | 1455 | ORPHA:131 | Budd-Chiari syndrome | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CALR CL E G H | 811 | 1455 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 118 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:52416 | Mantle cell lymphoma | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CD244 CL E G H | 51744 | 18171 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 8 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CD27 CL E G H | 939 | 11922 | OMIM:615122 | Lymphoproliferative syndrome 2 | | | | 4 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CD2AP CL E G H | 23607 | 14258 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 105 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CD70 CL E G H | 970 | 11937 | OMIM:618261 | LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3 | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 9 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 6 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | | | | 200 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | | | | 200 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 200 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 200 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CEBPE CL E G H | 1053 | 1836 | OMIM:260570 | Pelger-Huet-Like anomaly and episodic fever with abdominal pain | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | 86 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:60033 | Idiopathic bronchiectasis | | | | 1371 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CFTR CL E G H | 1080 | 1884 | OMIM:167800 | Pancreatitis, hereditary | | | | 1371 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | | | | 515 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:668 | Osteosarcoma | | | | 833 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | | | | 74 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | | | | 88 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | | | | 68 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CIITA CL E G H | 4261 | 7067 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 118 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CLCF1 CL E G H | 23529 | 17412 | ORPHA:1545 | Crisponi syndrome | | | | 6 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CLCN6 CL E G H | 1185 | 2024 | OMIM:619173 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 102 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CLDN10 CL E G H | 9071 | 2033 | OMIM:617671 | Helix syndrome | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CLEC7A CL E G H | 64581 | 14558 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040283 - Occasional | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 38 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | COA6 CL E G H | 388753 | 18025 | OMIM:616501 | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4 | | | | 8 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | COG6 CL E G H | 57511 | 18621 | ORPHA:363523 | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | | | | 71 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1310 | Caffey disease | | | | 373 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:114000 | Caffey disease | | | | 373 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | COL4A3 CL E G H | 1285 | 2204 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 161 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | COQ8B CL E G H | 79934 | 19041 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 35 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:614212 | Encephalopathy, acute, infection-induced, susceptibility to, 4 | | | | 101 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CR2 CL E G H | 1380 | 2336 | OMIM:614699 | IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7 | | | | 10 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CRB2 CL E G H | 286204 | 18688 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 12 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CRLF1 CL E G H | 9244 | 2364 | ORPHA:1545 | Crisponi syndrome | | | | 24 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | | | | 24 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | | | | 10 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CTRC CL E G H | 11330 | 2523 | OMIM:167800 | Pancreatitis, hereditary | | | | 39 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | | | | 27 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | | | | 111 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | | | | 111 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:203400 | Corticosterone methyloxidase type I deficiency | | | | 73 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CYP21A2 CL E G H | 1589 | 2600 | OMIM:201910 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | | | | 86 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DAAM2 CL E G H | 23500 | 18143 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | | | | 80 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DBH CL E G H | 1621 | 2689 | OMIM:223360 | Dopamine beta-hydroxylase deficiency, congenital | | | | 80 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | | | | 94 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | | | | 30 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | | | | 43 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | | | | 57 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:654 | Nephroblastoma | | | | 164 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | | | | 22 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | | | | 22 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 22 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 22 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DNASE2 CL E G H | 1777 | 2960 | OMIM:619858 | | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 167 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | | | | 108 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 121 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:226316 | Genetic transient congenital hypothyroidism | | | | 121 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 11 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | | | | 115 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | EDAR CL E G H | 10913 | 2895 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | | | | 86 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | | | | 86 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 86 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | | | | 56 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | | | | 56 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 56 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | EIF2B1 CL E G H | 1967 | 3257 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | | | | 42 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | EIF2B2 CL E G H | 8892 | 3258 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | | | | 24 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | EIF2B3 CL E G H | 8891 | 3259 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | | | | 32 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | EIF2B4 CL E G H | 8890 | 3260 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | | | | 38 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | EIF2B5 CL E G H | 8893 | 3261 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | | | | 48 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 79 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | | | | 79 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ELANE CL E G H | 1991 | 3309 | OMIM:162800 | Cyclic neutropenia | | | | 79 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | | | | 133 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | | | | 133 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | EMP2 CL E G H | 2013 | 3334 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 4 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | | | | 151 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | EPB41 CL E G H | 2035 | 3377 | ORPHA:288 | Hereditary elliptocytosis | | | | 6 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | | | | 51 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | | | | 106 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | | | | 54 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 158 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | | | | 158 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | | | | 83 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 199 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 55 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | F5 CL E G H | 2153 | 3542 | ORPHA:131 | Budd-Chiari syndrome | | | | 159 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | | | | 107 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | | | | 59 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | FBP1 CL E G H | 2203 | 3606 | OMIM:229700 | Fructose-1,6-Bisphosphatase deficiency | | | | 64 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | FCGR3B CL E G H | 2215 | 3620 | ORPHA:464370 | Neonatal alloimmune neutropenia | | | | 5 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | | | | 17 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | | | | 17 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 17 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 17 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | | | | 172 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 172 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | | | | 4 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | | | | 48 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | | | | 48 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 48 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 48 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:52417 | MALT lymphoma | | | | 184 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 101 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | | | | 407 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | GABRA2 CL E G H | 2555 | 4076 | OMIM:618557 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78 | | | | 4 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | | | | 160 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | GALC CL E G H | 2581 | 4115 | OMIM:245200 | Krabbe disease | | | | 160 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | GAPVD1 CL E G H | 26130 | 23375 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | | | | 137 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:233910 | Hyperphenylalaninemia, BH4-deficient, B | | | | 86 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 56 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | | | | 291 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | | | | 173 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | | | | 173 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 173 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 173 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:654 | Nephroblastoma | | | | 73 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | GYPC CL E G H | 2995 | 4704 | ORPHA:288 | Hereditary elliptocytosis | | | | 5 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:654 | Nephroblastoma | | | | 4 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HAVCR2 CL E G H | 84868 | 18437 | ORPHA:86884 | Subcutaneous panniculitis-like T-cell lymphoma | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HAVCR2 CL E G H | 84868 | 18437 | OMIM:618398 | T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | | | | 580 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | | | | 580 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 21 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | | | | 4 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | | | | 4 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:29207 | Reactive arthritis | | | | 4 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | | | | 4 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:3287 | Takayasu arteritis | | | | 4 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:747 | Autoimmune pulmonary alveolar proteinosis | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:545 | Follicular lymphoma | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | | | | 81 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | | | | 35 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | | | | 35 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | | | | 8 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | | | | 8 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | | | | 345 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | HTR1A CL E G H | 3350 | 5286 | OMIM:614674 | Periodic fever, menstrual cycle-dependent | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | | | | 16 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 28 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | | | | 28 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:619773 | IMMUNODEFICIENCY 95; IMD95 | | | | 28 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:618963 | IMMUNODEFICIENCY 69; IMD69 | | | | 23 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | | | | 60 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:209950 | Immunodeficiency 27A, mycobacteriosis, AR | | | | 60 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IGH CL E G H | 3492 | 5477 | ORPHA:545 | Follicular lymphoma | | | | 7 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IGH CL E G H | 3492 | 5477 | ORPHA:52417 | MALT lymphoma | | | | 7 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IGH CL E G H | 3492 | 5477 | ORPHA:52416 | Mantle cell lymphoma | | | | 7 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 7 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | | | | 8 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IL10 CL E G H | 3586 | 5962 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IL12B CL E G H | 3593 | 5970 | ORPHA:3287 | Takayasu arteritis | | | | 31 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IL17F CL E G H | 112744 | 16404 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040283 - Occasional | | | 14 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IL17RA CL E G H | 23765 | 5985 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040283 - Occasional | | | 196 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IL17RC CL E G H | 84818 | 18358 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040283 - Occasional | | | 4 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 65 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | | | | 48 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | | | | 48 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IL36RN CL E G H | 26525 | 15561 | OMIM:614204 | PSORIASIS 14, PUSTULAR; PSORS14 | | | | 51 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IL6 CL E G H | 3569 | 6018 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IL6R CL E G H | 3570 | 6019 | OMIM:618944 | HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5 | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | | | | 94 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | INF2 CL E G H | 64423 | 23791 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 135 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | | | | 4 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IRF8 CL E G H | 3394 | 5358 | OMIM:614893 | IMMUNODEFICIENCY 32A; IMD32A | | | | 5 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IRF8 CL E G H | 3394 | 5358 | ORPHA:319600 | Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | | | | 5 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ITPR2 CL E G H | 3709 | 6181 | OMIM:106190 | Anhidrosis, isolated, with normal sweat glands | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 130 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:131 | Budd-Chiari syndrome | | | | 57 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 57 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | | | | 57 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | | | | 51 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | KDF1 CL E G H | 126695 | 26624 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | | | | 202 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 327 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | KLHL7 CL E G H | 55975 | 15646 | OMIM:617055 | Crisponi/cold-Induced sweating syndrome 3 | | | | 42 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79400 | Localized epidermolysis bullosa simplex | | | | 110 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:161000 | Naegeli syndrome | | | | 110 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:69087 | Naegeli-Franceschetti-Jadassohn syndrome | | | | 110 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | | | | 19 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79145 | Dowling-Degos disease | | | | 173 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79400 | Localized epidermolysis bullosa simplex | | | | 173 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LACC1 CL E G H | 144811 | 26789 | OMIM:618795 | JUVENILE ARTHRITIS; JUVAR | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LACC1 CL E G H | 144811 | 26789 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | | | | 116 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | | | | 167 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | | | | 135 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LBR CL E G H | 3930 | 6518 | ORPHA:779 | Reynolds syndrome | | | | 70 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LBX1 CL E G H | 10660 | 16960 | OMIM:619483 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3 | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | | | | 35 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 51 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 43 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LIFR CL E G H | 3977 | 6597 | ORPHA:3206 | Stüve-Wiedemann syndrome | | | | 144 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | | | | 144 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | | | | 88 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LIPA CL E G H | 3988 | 6617 | ORPHA:75233 | Wolman disease | | | | 73 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | | | | 44 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LPIN1 CL E G H | 23175 | 13345 | OMIM:268200 | Rhabdomyolysis, acute recurrent | | | | 95 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LPIN2 CL E G H | 9663 | 14450 | ORPHA:77297 | Majeed syndrome | | | | 186 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LPIN2 CL E G H | 9663 | 14450 | OMIM:609628 | MAJEED SYNDROME; MJDS | | | | 186 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | | | | 239 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MAGI2 CL E G H | 9863 | 18957 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 59 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MALT1 CL E G H | 10892 | 6819 | ORPHA:52417 | MALT lymphoma | | | | 6 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:615279 | Cardiofaciocutaneous syndrome 3 | | | | 134 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | | | | 281 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:342 | Familial Mediterranean fever | | | | 281 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:134610 | FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT | | | | 281 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:608068 | NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE | | | | 281 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | | | | 281 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MIF CL E G H | 4282 | 7097 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MLX CL E G H | 6945 | 11645 | ORPHA:3287 | Takayasu arteritis | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | | | | 101 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MPL CL E G H | 4352 | 7217 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 97 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | | | | 97 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563609 | Isolated anencephaly | | | | 183 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563612 | Isolated exencephaly | | | | 183 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 7 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MVK CL E G H | 4598 | 7530 | ORPHA:343 | Hyperimmunoglobulinemia D with periodic fever | | | | 150 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MYD88 CL E G H | 4615 | 7562 | ORPHA:183713 | Bacterial susceptibility due to TLR signaling pathway deficiency | | | | 9 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | | | | 9 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 19 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | | | | 166 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2053 | Freeman-Sheldon syndrome | | | | 166 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MYO1E CL E G H | 4643 | 7599 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NAB2 CL E G H | 4665 | 7627 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:2053 | Freeman-Sheldon syndrome | | | | 48 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NAXD CL E G H | 55739 | 25576 | OMIM:618321 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | | | | 13 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | | | | 67 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | | | | 37 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | | | | 7 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NFKBIA CL E G H | 4792 | 7797 | OMIM:612132 | ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT | | | | 27 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NFKBIL1 CL E G H | 4795 | 7800 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NGF CL E G H | 4803 | 7808 | OMIM:608654 | Neuropathy, hereditary sensory and autonomic, type V | | | | 20 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | | | | 51 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616115 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4 | | | | 30 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NLRP12 CL E G H | 91662 | 22938 | OMIM:611762 | Familial cold autoinflammatory syndrome 2 | | | | 99 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | | | | 217 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:617772 | Deafness, autosomal dominant 34, with or without inflammation | | | | 217 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 | | | | 217 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:47045 | Familial cold urticaria | | | | 217 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | | | | 217 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:191900 | Muckle-Wells syndrome | | | | 217 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | | | | 187 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:617321 | YAO SYNDROME; YAOS | | | | 187 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | | | | 45 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | | | | 45 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 45 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 45 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NPHS1 CL E G H | 4868 | 7908 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 241 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NPHS2 CL E G H | 7827 | 13394 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 69 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | | | | 12 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | | | | 97 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | | | | 97 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 5 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NUP133 CL E G H | 55746 | 18016 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NUP160 CL E G H | 23279 | 18017 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NUP205 CL E G H | 23165 | 18658 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NUP37 CL E G H | 79023 | 29929 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NUP85 CL E G H | 79902 | 8734 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | NUP93 CL E G H | 9688 | 28958 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 5 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | | | | 121 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ORAI1 CL E G H | 84876 | 25896 | OMIM:612782 | Immunodeficiency 9 | | | | 19 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | . | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 39 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | | | | 63 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614863 | Peroxisome biogenesis disorder 4B | | | | 98 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PHOX2B CL E G H | 8929 | 9143 | OMIM:209880 | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | . | | | 86 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 43 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | | | | 563 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | | | | 133 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PLCE1 CL E G H | 51196 | 17175 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 118 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | | | | 150 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:98916 | Acute inflammatory demyelinating polyradiculoneuropathy | | | | 79 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | POFUT1 CL E G H | 23509 | 14988 | ORPHA:79145 | Dowling-Degos disease | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | POGLUT1 CL E G H | 56983 | 22954 | ORPHA:79145 | Dowling-Degos disease | | | | 6 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 36 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | POU6F2 CL E G H | 11281 | 21694 | ORPHA:654 | Nephroblastoma | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 58 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | | | | 134 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:615 | Familial atrial myxoma | | | | 134 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:600072 | Fatal familial insomnia | | | | 69 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 54 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PRSS1 CL E G H | 5644 | 9475 | OMIM:167800 | Pancreatitis, hereditary | | | | 51 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PRSS2 CL E G H | 5645 | 9483 | OMIM:167800 | Pancreatitis, hereditary | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | | | | 81 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PSENEN CL E G H | 55851 | 30100 | ORPHA:79145 | Dowling-Degos disease | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PSMB10 CL E G H | 5699 | 9538 | OMIM:619175 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5 | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PSMG2 CL E G H | 56984 | 24929 | OMIM:619183 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4 | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PSTPIP1 CL E G H | 9051 | 9580 | ORPHA:69126 | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | | | | 96 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | | | | 665 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | | | | 665 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 665 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 665 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PTPN22 CL E G H | 26191 | 9652 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PTPN3 CL E G H | 5774 | 9655 | ORPHA:70567 | Cholangiocarcinoma | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PTPRO CL E G H | 5800 | 9678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PTS CL E G H | 5805 | 9689 | OMIM:261640 | Hyperphenylalaninemia, BH4-deficient, A | | | | 19 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | QDPR CL E G H | 5860 | 9752 | OMIM:261630 | Hyperphenylalaninemia, bh4-deficient, C | | | | 43 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | | | | 67 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RAB27A CL E G H | 5873 | 9766 | OMIM:607624 | Griscelli syndrome, type 2 | | | | 67 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | | | | 127 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 127 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | | | | 50 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 50 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RANBP2 CL E G H | 5903 | 9848 | ORPHA:88619 | Familial acute necrotizing encephalopathy | | | | 57 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RB1 CL E G H | 5925 | 9884 | ORPHA:668 | Osteosarcoma | | | | 365 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | | | | 10 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | REST CL E G H | 5978 | 9966 | ORPHA:654 | Nephroblastoma | | | | 7 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618852 | AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | | | | 37 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 33 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 34 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 60 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RNF168 CL E G H | 165918 | 26661 | ORPHA:420741 | RIDDLE syndrome | | | | 7 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RUNX1 CL E G H | 861 | 10471 | ORPHA:521 | Chronic myeloid leukemia | | | | 181 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 1200 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:597 | Central core disease | | | | 1200 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:117000 | Central core disease | | | | 1200 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:424107 | Congenital myopathy with myasthenic-like onset | | | | 1200 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | | | | 1200 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 1200 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:145600 | Malignant hyperthermia, susceptibility to, 1 | | | | 1200 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 55 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SCN10A CL E G H | 6336 | 10582 | ORPHA:90026 | Primary erythromelalgia | | | | 146 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SCN11A CL E G H | 11280 | 10583 | ORPHA:90026 | Primary erythromelalgia | | | | 19 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | | | | 263 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:272120 | Sudden infant death syndrome | | | | 1134 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:90026 | Primary erythromelalgia | | | | 318 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:60033 | Idiopathic bronchiectasis | | | | 67 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:60033 | Idiopathic bronchiectasis | | | | 61 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:60033 | Idiopathic bronchiectasis | | | | 57 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | | | | 5 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 4 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SH3KBP1 CL E G H | 30011 | 13867 | OMIM:300310 | Immunodeficiency 61 | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | | | | 67 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | | | | 67 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 67 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 67 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SHQ1 CL E G H | 55164 | 25543 | OMIM:619922 | | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | | | | 32 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | | | | 32 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 32 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 32 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SLC11A1 CL E G H | 6556 | 10907 | ORPHA:3389 | Tuberculosis | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | | | | 75 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SLC18A2 CL E G H | 6571 | 10935 | OMIM:618049 | Parkinsonism-Dystonia, infantile, 2 | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | | | | 110 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SLC22A4 CL E G H | 6583 | 10968 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SLC25A19 CL E G H | 60386 | 14409 | ORPHA:99742 | Amish lethal microcephaly | | | | 36 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | | | | 40 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | | | | 68 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SLC34A2 CL E G H | 10568 | 11020 | ORPHA:60025 | Pulmonary alveolar microlithiasis | | | | 7 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | | | | 71 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SLC41A1 CL E G H | 254428 | 19429 | OMIM:619468 | NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2 | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | | | | 109 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SLC52A1 CL E G H | 55065 | 30225 | OMIM:615026 | Riboflavin deficiency | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SLC5A1 CL E G H | 6523 | 11036 | ORPHA:35710 | Glucose-galactose malabsorption | | | | 74 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 59 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 135 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SNX10 CL E G H | 29887 | 14974 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SPINK1 CL E G H | 6690 | 11244 | OMIM:167800 | Pancreatitis, hereditary | | | | 34 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SPR CL E G H | 6697 | 11257 | ORPHA:70594 | Dopa-responsive dystonia due to sepiapterin reductase deficiency | | | | 28 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:288 | Hereditary elliptocytosis | | | | 228 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | | | | 228 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:288 | Hereditary elliptocytosis | | | | 156 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | | | | 156 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STAC3 CL E G H | 246329 | 28423 | OMIM:255995 | Myopathy, congenital, bailey-bloch | | | | 14 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STAC3 CL E G H | 246329 | 28423 | ORPHA:168572 | Native American myopathy | | | | 14 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STAT2 CL E G H | 6773 | 11363 | OMIM:618886 | PSEUDO-TORCH SYNDROME 3; PTORCH3 | | | | 9 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | | | | 110 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | | | | 110 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | | | | 12 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STAT6 CL E G H | 6778 | 11368 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | | | | 99 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | | | | 99 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 99 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 99 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:612783 | Immunodeficiency 10 | | | | 31 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 85 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 70 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | STXBP2 CL E G H | 6813 | 11445 | OMIM:613101 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 | | | | 70 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | | | | 60 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | | | | 60 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TBC1D8B CL E G H | 54885 | 24715 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | | | | 13 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 20 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | | | | 22 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | HP:0040281 - Very frequent | | | 100 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | | | | 241 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 82 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 82 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 155 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | | | | 32 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | | | | 32 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 32 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 32 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TH CL E G H | 7054 | 11782 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | | | | 80 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TICAM1 CL E G H | 148022 | 18348 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 6 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TLR3 CL E G H | 7098 | 11849 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | | | | 3 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | | | | 24 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TNFAIP3 CL E G H | 7128 | 11896 | OMIM:616744 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL | | | | 26 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TNFRSF1A CL E G H | 7132 | 11916 | OMIM:142680 | Periodic fever, familial, autosomal dominant | | | | 131 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | | | | 131 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TNFSF11 CL E G H | 8600 | 11926 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 44 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:668 | Osteosarcoma | | | | 911 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 92 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TRAF3 CL E G H | 7187 | 12033 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TRAF3IP2 CL E G H | 10758 | 1343 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040283 - Occasional | | | 4 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TRAF6 CL E G H | 7189 | 12036 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | | | | 158 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 56 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TRIM28 CL E G H | 10155 | 16384 | ORPHA:654 | Nephroblastoma | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:654 | Nephroblastoma | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TRPC6 CL E G H | 7225 | 12338 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 107 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:538 | Lymphangioleiomyomatosis | | | | 1090 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:538 | Lymphangioleiomyomatosis | | | | 2738 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | | | | 9 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:90673 | Hypothyroidism due to TSH receptor mutations | | | | 97 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TSPOAP1 CL E G H | 9256 | 16831 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TSPYL1 CL E G H | 7259 | 12382 | OMIM:608800 | Sudden infant death with dysgenesis of the testes syndrome | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | TSPYL1 CL E G H | 7259 | 12382 | ORPHA:168593 | Sudden infant death-dysgenesis of the testes syndrome | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | UBA1 CL E G H | 7317 | 12469 | OMIM:301054 | VEXAS SYNDROME; VEXAS | | | | 35 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | | | | 278 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | | | | 278 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98795 | Angelman syndrome due to paternal uniparental disomy of chromosome 15 | | | | 278 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 116 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | UNC13D CL E G H | 201294 | 23147 | OMIM:608898 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 | | | | 116 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | UNC93B1 CL E G H | 81622 | 13481 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 5 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | UQCRFS1 CL E G H | 7386 | 12587 | OMIM:618775 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10 | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563609 | Isolated anencephaly | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563612 | Isolated exencephaly | | | | 2 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | VPS11 CL E G H | 55823 | 14583 | OMIM:616683 | Leukodystrophy, hypomyelinating, 12 | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 6 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 177 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:654 | Nephroblastoma | | | | 177 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | XIAP CL E G H | 331 | 592 | OMIM:300635 | Lymphoproliferative syndrome, X-linked, 2 | | | | 81 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | | | | 34 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | | | | 86 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | | | | 1 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ZFHX2 CL E G H | 85446 | 20152 | OMIM:147430 | Marsili syndrome | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ZFYVE19 CL E G H | 84936 | 20758 | OMIM:619849 | | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | | | | 34 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | | | | 34 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 34 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 34 | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0004370 | HP:0004370 | Abnormality of temperature regulation | 0 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:457 | Harlequin ichthyosis | HP:0040283 - Occasional | | | 130 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ABCC2 CL E G H | 1244 | 53 | ORPHA:234 | Dubin-Johnson syndrome | HP:0040283 - Occasional | | | 119 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 415 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ABL1 CL E G H | 25 | 76 | ORPHA:521 | Chronic myeloid leukemia | HP:0040282 - Frequent | | | 51 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | ACADSB CL E G H | 36 | 91 | OMIM:610006 | 2-Methylbutyryl-Coa dehydrogenase deficiency | . | | | 111 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 200 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | HP:0040281 - Very frequent | | | 91 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ACTN4 CL E G H | 81 | 166 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 75 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | | | | 75 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ADAMTS13 CL E G H | 11093 | 1366 | OMIM:274150 | Thrombotic thrombocytopenic purpura, hereditary | . | | | 129 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 116 | | |
HP:0004370 | HP:0001945 | Fever | 1 | AK2 CL E G H | 204 | 362 | ORPHA:33355 | Reticular dysgenesis | HP:0040282 - Frequent | | | 19 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ALDOA CL E G H | 226 | 414 | ORPHA:57 | Glycogen storage disease due to aldolase A deficiency | HP:0040281 - Very frequent | | | 50 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | ALG11 CL E G H | 440138 | 32456 | ORPHA:280071 | ALG11-CDG | HP:0040283 - Occasional | | | 41 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | ALG11 CL E G H | 440138 | 32456 | OMIM:613661 | Congenital disorder of glycosylation, type Ip | . | | | 41 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:606545 | Ichthyosis, congenital, autosomal recessive 3 | | | | 63 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ALPK1 CL E G H | 80216 | 20917 | OMIM:614979 | Splenomegaly, cytopenia, and vision loss | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | ALPL CL E G H | 249 | 438 | OMIM:241500 | Hypophosphatasia, infantile | . | | | 126 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 150 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ANKFY1 CL E G H | 51479 | 20763 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | ANLN CL E G H | 54443 | 14082 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0004370 | HP:0001945 | Fever | 1 | APOL1 CL E G H | 8542 | 618 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0004370 | HP:0001945 | Fever | 1 | AQP2 CL E G H | 359 | 634 | OMIM:125800 | Diabetes insipidus, nephrogenic, 2 | | | | 75 | | |
HP:0004370 | HP:0001945 | Fever | 1 | AQP2 CL E G H | 359 | 634 | ORPHA:223 | Nephrogenic diabetes insipidus | HP:0040282 - Frequent | | | 75 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ARHGAP24 CL E G H | 83478 | 25361 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ARHGDIA CL E G H | 396 | 678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | | | | 78 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ASAH1 CL E G H | 427 | 735 | OMIM:228000 | Farber lipogranulomatosis | | | | 78 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 145 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ATM CL E G H | 472 | 795 | ORPHA:52416 | Mantle cell lymphoma | HP:0040282 - Frequent | | | 3267 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ATP1A2 CL E G H | 477 | 800 | OMIM:602481 | Migraine, familial hemiplegic, 2 | . | | | 239 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | ATP2A1 CL E G H | 487 | 811 | OMIM:601003 | BRODY MYOPATHY | | | | 80 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | ATP7A CL E G H | 538 | 869 | OMIM:309400 | Menkes disease | . | | | 192 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | HP:0040283 - Occasional | | | 192 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | HP:0040282 - Frequent | | | 192 | | |
HP:0004370 | HP:0001945 | Fever | 1 | AVP CL E G H | 551 | 894 | ORPHA:30925 | Hereditary central diabetes insipidus | HP:0040282 - Frequent | | | 22 | | |
HP:0004370 | HP:0001945 | Fever | 1 | AVPR2 CL E G H | 554 | 897 | OMIM:304800 | Diabetes insipidus, nephrogenic, X-linked | | | | 67 | | |
HP:0004370 | HP:0001945 | Fever | 1 | AVPR2 CL E G H | 554 | 897 | ORPHA:223 | Nephrogenic diabetes insipidus | HP:0040282 - Frequent | | | 67 | | |
HP:0004370 | HP:0001945 | Fever | 1 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | BCAP31 CL E G H | 10134 | 16695 | ORPHA:369939 | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | | | | 8 | | |
HP:0004370 | HP:0001945 | Fever | 1 | BCL10 CL E G H | 8915 | 989 | ORPHA:52417 | MALT lymphoma | HP:0040281 - Very frequent | | | 18 | | |
HP:0004370 | HP:0001945 | Fever | 1 | BCL2 CL E G H | 596 | 990 | ORPHA:545 | Follicular lymphoma | HP:0040281 - Very frequent | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | BCL6 CL E G H | 604 | 1001 | ORPHA:545 | Follicular lymphoma | HP:0040281 - Very frequent | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 101 | | |
HP:0004370 | HP:0001945 | Fever | 1 | BCR CL E G H | 613 | 1014 | ORPHA:521 | Chronic myeloid leukemia | HP:0040282 - Frequent | | | 5 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040284 - Very rare | | | 99 | | |
HP:0004370 | HP:0001945 | Fever | 1 | BIRC3 CL E G H | 330 | 591 | ORPHA:52417 | MALT lymphoma | HP:0040281 - Very frequent | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 4 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | BRAT1 CL E G H | 221927 | 21701 | OMIM:614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | | | | 20 | | |
HP:0004370 | HP:0001945 | Fever | 1 | BRCA1 CL E G H | 672 | 1100 | ORPHA:70567 | Cholangiocarcinoma | HP:0040283 - Occasional | | | 5769 | | |
HP:0004370 | HP:0001945 | Fever | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:70567 | Cholangiocarcinoma | HP:0040283 - Occasional | | | 7642 | | |
HP:0004370 | HP:0001945 | Fever | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:654 | Nephroblastoma | HP:0040283 - Occasional | | | 7642 | | |
HP:0004370 | HP:0001945 | Fever | 1 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | HP:0040281 - Very frequent | | | 109 | | |
HP:0004370 | HP:0001945 | Fever | 1 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 1 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040284 - Very rare | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | C2ORF69 CL E G H | 205327 | 26799 | OMIM:619423 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53 | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | C3 CL E G H | 718 | 1318 | OMIM:613779 | Complement component 3 deficiency, autosomal recessive | | | | 92 | | |
HP:0004370 | HP:0001945 | Fever | 1 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CACNA1A CL E G H | 773 | 1388 | OMIM:141500 | Migraine, familial hemiplegic, 1 | . | | | 449 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040282 - Frequent | | | 247 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040282 - Frequent | | | 247 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CACNA1S CL E G H | 779 | 1397 | OMIM:601887 | Malignant hyperthermia, susceptibility to, 5 | . | | | 247 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CALR CL E G H | 811 | 1455 | ORPHA:131 | Budd-Chiari syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CALR CL E G H | 811 | 1455 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | . | | | 118 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CCND1 CL E G H | 595 | 1582 | ORPHA:52416 | Mantle cell lymphoma | HP:0040282 - Frequent | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | CD244 CL E G H | 51744 | 18171 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 8 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040282 - Frequent | | | 8 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CD27 CL E G H | 939 | 11922 | OMIM:615122 | Lymphoproliferative syndrome 2 | | | | 4 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CD2AP CL E G H | 23607 | 14258 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 105 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040282 - Frequent | | | 18 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040282 - Frequent | | | 24 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CD70 CL E G H | 970 | 11937 | OMIM:618261 | LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3 | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 9 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 6 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CEBPE CL E G H | 1053 | 1836 | OMIM:260570 | Pelger-Huet-Like anomaly and episodic fever with abdominal pain | . | | | 3 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | 86 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | CFTR CL E G H | 1080 | 1884 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040283 - Occasional | | | 1371 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CFTR CL E G H | 1080 | 1884 | OMIM:167800 | Pancreatitis, hereditary | . | | | 1371 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:668 | Osteosarcoma | HP:0040284 - Very rare | | | 833 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 74 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | CHRND CL E G H | 1144 | 1965 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 88 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | CHRNG CL E G H | 1146 | 1967 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 68 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CIITA CL E G H | 4261 | 7067 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 118 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | CLCF1 CL E G H | 23529 | 17412 | ORPHA:1545 | Crisponi syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | CLDN10 CL E G H | 9071 | 2033 | OMIM:617671 | Helix syndrome | | | | 3 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 38 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | COA6 CL E G H | 388753 | 18025 | OMIM:616501 | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4 | | | | 8 | | |
HP:0004370 | HP:0001945 | Fever | 1 | COG6 CL E G H | 57511 | 18621 | ORPHA:363523 | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | | | | 71 | | |
HP:0004370 | HP:0001945 | Fever | 1 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0004370 | HP:0001945 | Fever | 1 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1310 | Caffey disease | HP:0040282 - Frequent | | | 373 | | |
HP:0004370 | HP:0001945 | Fever | 1 | COL1A1 CL E G H | 1277 | 2197 | OMIM:114000 | Caffey disease | . | | | 373 | | |
HP:0004370 | HP:0001945 | Fever | 1 | COL4A3 CL E G H | 1285 | 2204 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 161 | | |
HP:0004370 | HP:0001945 | Fever | 1 | COQ8B CL E G H | 79934 | 19041 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0004370 | HP:0001945 | Fever | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CPT2 CL E G H | 1376 | 2330 | OMIM:614212 | Encephalopathy, acute, infection-induced, susceptibility to, 4 | . | | | 101 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CR2 CL E G H | 1380 | 2336 | OMIM:614699 | IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7 | | | | 10 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CRB2 CL E G H | 286204 | 18688 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | CRLF1 CL E G H | 9244 | 2364 | ORPHA:1545 | Crisponi syndrome | HP:0040281 - Very frequent | | | 24 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | | | | 24 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040281 - Very frequent | | | 10 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CTRC CL E G H | 11330 | 2523 | OMIM:167800 | Pancreatitis, hereditary | . | | | 39 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 27 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 111 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | | | | 111 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:203400 | Corticosterone methyloxidase type I deficiency | | | | 73 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CYP21A2 CL E G H | 1589 | 2600 | OMIM:201910 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | . | | | 86 | | |
HP:0004370 | HP:0001945 | Fever | 1 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | DAAM2 CL E G H | 23500 | 18143 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | HP:0040283 - Occasional | | | 80 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | DBH CL E G H | 1621 | 2689 | OMIM:223360 | Dopamine beta-hydroxylase deficiency, congenital | | | | 80 | | |
HP:0004370 | HP:0001945 | Fever | 1 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 94 | | |
HP:0004370 | HP:0001945 | Fever | 1 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 30 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | . | | | 43 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | | | | 43 | | |
HP:0004370 | HP:0001945 | Fever | 1 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | . | | | 57 | | |
HP:0004370 | HP:0001945 | Fever | 1 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:654 | Nephroblastoma | HP:0040283 - Occasional | | | 164 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0004370 | HP:0001945 | Fever | 1 | DNASE2 CL E G H | 1777 | 2960 | OMIM:619858 | | | | | | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040284 - Very rare | | | 167 | | |
HP:0004370 | HP:0001945 | Fever | 1 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0004370 | HP:0001945 | Fever | 1 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | . | | | 108 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 121 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:226316 | Genetic transient congenital hypothyroidism | HP:0040284 - Very rare | | | 121 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 11 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0004370 | HP:0001945 | Fever | 1 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | EDAR CL E G H | 10913 | 2895 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 86 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | EDAR CL E G H | 10913 | 2895 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | . | | | 86 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | EDAR CL E G H | 10913 | 2895 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 86 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | EDARADD CL E G H | 128178 | 14341 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 56 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | EDARADD CL E G H | 128178 | 14341 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | . | | | 56 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | EDARADD CL E G H | 128178 | 14341 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0004370 | HP:0001945 | Fever | 1 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0004370 | HP:0001945 | Fever | 1 | EIF2B1 CL E G H | 1967 | 3257 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 42 | | |
HP:0004370 | HP:0001945 | Fever | 1 | EIF2B2 CL E G H | 8892 | 3258 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 24 | | |
HP:0004370 | HP:0001945 | Fever | 1 | EIF2B3 CL E G H | 8891 | 3259 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 32 | | |
HP:0004370 | HP:0001945 | Fever | 1 | EIF2B4 CL E G H | 8890 | 3260 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 38 | | |
HP:0004370 | HP:0001945 | Fever | 1 | EIF2B5 CL E G H | 8893 | 3261 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 48 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 79 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | | | | 79 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ELANE CL E G H | 1991 | 3309 | OMIM:162800 | Cyclic neutropenia | . | | | 79 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | HP:0040281 - Very frequent | | | 133 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | | | | 133 | | |
HP:0004370 | HP:0001945 | Fever | 1 | EMP2 CL E G H | 2013 | 3334 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 151 | | |
HP:0004370 | HP:0001945 | Fever | 1 | EPB41 CL E G H | 2035 | 3377 | ORPHA:288 | Hereditary elliptocytosis | HP:0040284 - Very rare | | | 6 | | |
HP:0004370 | HP:0001945 | Fever | 1 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 51 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 106 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 54 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 158 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 83 | | |
HP:0004370 | HP:0001945 | Fever | 1 | F5 CL E G H | 2153 | 3542 | ORPHA:131 | Budd-Chiari syndrome | HP:0040282 - Frequent | | | 159 | | |
HP:0004370 | HP:0001945 | Fever | 1 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | | | | 107 | | |
HP:0004370 | HP:0001945 | Fever | 1 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 59 | | |
HP:0004370 | HP:0001945 | Fever | 1 | FBP1 CL E G H | 2203 | 3606 | OMIM:229700 | Fructose-1,6-Bisphosphatase deficiency | . | | | 64 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | FCGR3B CL E G H | 2215 | 3620 | ORPHA:464370 | Neonatal alloimmune neutropenia | HP:0040283 - Occasional | | | 5 | | |
HP:0004370 | HP:0001945 | Fever | 1 | FCGR3B CL E G H | 2215 | 3620 | ORPHA:464370 | Neonatal alloimmune neutropenia | HP:0040283 - Occasional | | | 5 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0004370 | HP:0001945 | Fever | 1 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0004370 | HP:0001945 | Fever | 1 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0004370 | HP:0001945 | Fever | 1 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:52417 | MALT lymphoma | HP:0040281 - Very frequent | | | 184 | | |
HP:0004370 | HP:0001945 | Fever | 1 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | . | | | 101 | | |
HP:0004370 | HP:0001945 | Fever | 1 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | . | | | 407 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | GABRA2 CL E G H | 2555 | 4076 | OMIM:618557 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78 | | | | 4 | | |
HP:0004370 | HP:0001945 | Fever | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | | | | 160 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0004370 | HP:0001945 | Fever | 1 | GALC CL E G H | 2581 | 4115 | OMIM:245200 | Krabbe disease | | | | 160 | | |
HP:0004370 | HP:0001945 | Fever | 1 | GAPVD1 CL E G H | 26130 | 23375 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | HP:0040282 - Frequent | | | 137 | | |
HP:0004370 | HP:0001945 | Fever | 1 | GCH1 CL E G H | 2643 | 4193 | OMIM:233910 | Hyperphenylalaninemia, BH4-deficient, B | | | | 86 | | |
HP:0004370 | HP:0001945 | Fever | 1 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 56 | | |
HP:0004370 | HP:0001945 | Fever | 1 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040283 - Occasional | | | 291 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0004370 | HP:0001945 | Fever | 1 | GPC3 CL E G H | 2719 | 4451 | ORPHA:654 | Nephroblastoma | HP:0040283 - Occasional | | | 73 | | |
HP:0004370 | HP:0001945 | Fever | 1 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | GYPC CL E G H | 2995 | 4704 | ORPHA:288 | Hereditary elliptocytosis | HP:0040284 - Very rare | | | 5 | | |
HP:0004370 | HP:0001945 | Fever | 1 | H19 CL E G H | 283120 | 4713 | ORPHA:654 | Nephroblastoma | HP:0040283 - Occasional | | | 4 | | |
HP:0004370 | HP:0001945 | Fever | 1 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | HAVCR2 CL E G H | 84868 | 18437 | ORPHA:86884 | Subcutaneous panniculitis-like T-cell lymphoma | HP:0040282 - Frequent | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | HAVCR2 CL E G H | 84868 | 18437 | OMIM:618398 | T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE | . | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | | | | 580 | | |
HP:0004370 | HP:0001945 | Fever | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | | | | 580 | | |
HP:0004370 | HP:0001945 | Fever | 1 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 21 | | |
HP:0004370 | HP:0001945 | Fever | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 4 | | |
HP:0004370 | HP:0001945 | Fever | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 4 | | |
HP:0004370 | HP:0001945 | Fever | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:29207 | Reactive arthritis | HP:0040283 - Occasional | | | 4 | | |
HP:0004370 | HP:0001945 | Fever | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0004370 | HP:0001945 | Fever | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:3287 | Takayasu arteritis | HP:0040281 - Very frequent | | | 4 | | |
HP:0004370 | HP:0001945 | Fever | 1 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040281 - Very frequent | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040281 - Very frequent | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:747 | Autoimmune pulmonary alveolar proteinosis | HP:0040284 - Very rare | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:545 | Follicular lymphoma | HP:0040281 - Very frequent | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 2 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040284 - Very rare | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | . | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040281 - Very frequent | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040283 - Occasional | | | 81 | | |
HP:0004370 | HP:0001945 | Fever | 1 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040283 - Occasional | | | 35 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040284 - Very rare | | | 35 | | |
HP:0004370 | HP:0001945 | Fever | 1 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | . | | | 35 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040283 - Occasional | | | 8 | | |
HP:0004370 | HP:0001945 | Fever | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | | | | 8 | | |
HP:0004370 | HP:0001945 | Fever | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | | | | 8 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040283 - Occasional | | | 8 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | . | | | 345 | | |
HP:0004370 | HP:0001945 | Fever | 1 | HTR1A CL E G H | 3350 | 5286 | OMIM:614674 | Periodic fever, menstrual cycle-dependent | . | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | | | | 16 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 28 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | | | | 28 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IFIH1 CL E G H | 64135 | 18873 | OMIM:619773 | IMMUNODEFICIENCY 95; IMD95 | | | | 28 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IFNG CL E G H | 3458 | 5438 | OMIM:618963 | IMMUNODEFICIENCY 69; IMD69 | | | | 23 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 60 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:209950 | Immunodeficiency 27A, mycobacteriosis, AR | | | | 60 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IGH CL E G H | 3492 | 5477 | ORPHA:545 | Follicular lymphoma | HP:0040281 - Very frequent | | | 7 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IGH CL E G H | 3492 | 5477 | ORPHA:52417 | MALT lymphoma | HP:0040281 - Very frequent | | | 7 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IGH CL E G H | 3492 | 5477 | ORPHA:52416 | Mantle cell lymphoma | HP:0040282 - Frequent | | | 7 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 7 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IL10 CL E G H | 3586 | 5962 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | IL12B CL E G H | 3593 | 5970 | ORPHA:3287 | Takayasu arteritis | HP:0040281 - Very frequent | | | 31 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 65 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | | | | 48 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IL36RN CL E G H | 26525 | 15561 | OMIM:614204 | PSORIASIS 14, PUSTULAR; PSORS14 | | | | 51 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IL6 CL E G H | 3569 | 6018 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040281 - Very frequent | | | 2 | | |
HP:0004370 | HP:0033104 | Inappropriate absence of fever | 1 | IL6R CL E G H | 3570 | 6019 | OMIM:618944 | HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5 | | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 94 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0004370 | HP:0001945 | Fever | 1 | INF2 CL E G H | 64423 | 23791 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IRF8 CL E G H | 3394 | 5358 | OMIM:614893 | IMMUNODEFICIENCY 32A; IMD32A | | | | 5 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | . | | | 5 | | |
HP:0004370 | HP:0001945 | Fever | 1 | IRF8 CL E G H | 3394 | 5358 | ORPHA:319600 | Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | HP:0040281 - Very frequent | | | 5 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | ITPR2 CL E G H | 3709 | 6181 | OMIM:106190 | Anhidrosis, isolated, with normal sweat glands | . | | | 1 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 130 | | |
HP:0004370 | HP:0001945 | Fever | 1 | JAK2 CL E G H | 3717 | 6192 | ORPHA:131 | Budd-Chiari syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0004370 | HP:0001945 | Fever | 1 | JAK2 CL E G H | 3717 | 6192 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 57 | | |
HP:0004370 | HP:0001945 | Fever | 1 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 57 | | |
HP:0004370 | HP:0001945 | Fever | 1 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | . | | | 51 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | KDF1 CL E G H | 126695 | 26624 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | . | | | 202 | | |
HP:0004370 | HP:0001945 | Fever | 1 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 327 | | |
HP:0004370 | HP:0001945 | Fever | 1 | KLHL7 CL E G H | 55975 | 15646 | OMIM:617055 | Crisponi/cold-Induced sweating syndrome 3 | . | | | 42 | | |
HP:0004370 | HP:0001945 | Fever | 1 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79400 | Localized epidermolysis bullosa simplex | HP:0040282 - Frequent | | | 110 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | KRT14 CL E G H | 3861 | 6416 | OMIM:161000 | Naegeli syndrome | . | | | 110 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | KRT14 CL E G H | 3861 | 6416 | ORPHA:69087 | Naegeli-Franceschetti-Jadassohn syndrome | | | | 110 | | |
HP:0004370 | HP:0001945 | Fever | 1 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | . | | | 19 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79145 | Dowling-Degos disease | HP:0040283 - Occasional | | | 173 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79400 | Localized epidermolysis bullosa simplex | HP:0040282 - Frequent | | | 173 | | |
HP:0004370 | HP:0001945 | Fever | 1 | LACC1 CL E G H | 144811 | 26789 | OMIM:618795 | JUVENILE ARTHRITIS; JUVAR | | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | LACC1 CL E G H | 144811 | 26789 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040281 - Very frequent | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | | | | 116 | | |
HP:0004370 | HP:0001945 | Fever | 1 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | | | | 167 | | |
HP:0004370 | HP:0001945 | Fever | 1 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | | | | 135 | | |
HP:0004370 | HP:0001945 | Fever | 1 | LBR CL E G H | 3930 | 6518 | ORPHA:779 | Reynolds syndrome | HP:0040282 - Frequent | | | 70 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | LBX1 CL E G H | 10660 | 16960 | OMIM:619483 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3 | | | | | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | HP:0040283 - Occasional | | | 35 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 51 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 43 | | |
HP:0004370 | HP:0001945 | Fever | 1 | LIFR CL E G H | 3977 | 6597 | ORPHA:3206 | Stüve-Wiedemann syndrome | | | | 144 | | |
HP:0004370 | HP:0001945 | Fever | 1 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | | | | 144 | | |
HP:0004370 | HP:0001945 | Fever | 1 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0004370 | HP:0001945 | Fever | 1 | LIPA CL E G H | 3988 | 6617 | ORPHA:75233 | Wolman disease | HP:0040283 - Occasional | | | 73 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040283 - Occasional | | | 44 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040283 - Occasional | | | 44 | | |
HP:0004370 | HP:0001945 | Fever | 1 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0004370 | HP:0001945 | Fever | 1 | LPIN1 CL E G H | 23175 | 13345 | OMIM:268200 | Rhabdomyolysis, acute recurrent | . | | | 95 | | |
HP:0004370 | HP:0001945 | Fever | 1 | LPIN2 CL E G H | 9663 | 14450 | ORPHA:77297 | Majeed syndrome | HP:0040281 - Very frequent | | | 186 | | |
HP:0004370 | HP:0001945 | Fever | 1 | LPIN2 CL E G H | 9663 | 14450 | OMIM:609628 | MAJEED SYNDROME; MJDS | | | | 186 | | |
HP:0004370 | HP:0001945 | Fever | 1 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0004370 | HP:0001945 | Fever | 1 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040282 - Frequent | | | 239 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 63 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0004370 | HP:0001945 | Fever | 1 | MAGI2 CL E G H | 9863 | 18957 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0004370 | HP:0001945 | Fever | 1 | MALT1 CL E G H | 10892 | 6819 | ORPHA:52417 | MALT lymphoma | HP:0040281 - Very frequent | | | 6 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:615279 | Cardiofaciocutaneous syndrome 3 | | | | 134 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | . | | | 178 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0004370 | HP:0001945 | Fever | 1 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 281 | | |
HP:0004370 | HP:0001945 | Fever | 1 | MEFV CL E G H | 4210 | 6998 | ORPHA:342 | Familial Mediterranean fever | HP:0040281 - Very frequent | | | 281 | | |
HP:0004370 | HP:0001945 | Fever | 1 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0004370 | HP:0001945 | Fever | 1 | MEFV CL E G H | 4210 | 6998 | OMIM:134610 | FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT | | | | 281 | | |
HP:0004370 | HP:0001945 | Fever | 1 | MEFV CL E G H | 4210 | 6998 | OMIM:608068 | NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE | | | | 281 | | |
HP:0004370 | HP:0001945 | Fever | 1 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | | | | 281 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | MIF CL E G H | 4282 | 7097 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040281 - Very frequent | | | 1 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | MLX CL E G H | 6945 | 11645 | ORPHA:3287 | Takayasu arteritis | HP:0040281 - Very frequent | | | | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040283 - Occasional | | | 101 | | |
HP:0004370 | HP:0001945 | Fever | 1 | MPL CL E G H | 4352 | 7217 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 97 | | |
HP:0004370 | HP:0001945 | Fever | 1 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 97 | | |
HP:0004370 | HP:0001945 | Fever | 1 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563609 | Isolated anencephaly | | | | 183 | | |
HP:0004370 | HP:0001945 | Fever | 1 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563612 | Isolated exencephaly | | | | 183 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040284 - Very rare | | | 7 | | |
HP:0004370 | HP:0001945 | Fever | 1 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0004370 | HP:0001945 | Fever | 1 | MVK CL E G H | 4598 | 7530 | ORPHA:343 | Hyperimmunoglobulinemia D with periodic fever | | | | 150 | | |
HP:0004370 | HP:0001945 | Fever | 1 | MYD88 CL E G H | 4615 | 7562 | ORPHA:183713 | Bacterial susceptibility due to TLR signaling pathway deficiency | HP:0040283 - Occasional | | | 9 | | |
HP:0004370 | HP:0001945 | Fever | 1 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | HP:0040283 - Occasional | | | 9 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040284 - Very rare | | | 19 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | | | | 166 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0004370 | HP:0001945 | Fever | 1 | MYO1E CL E G H | 4643 | 7599 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | NAB2 CL E G H | 4665 | 7627 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | HP:0040284 - Very rare | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | NALCN CL E G H | 259232 | 19082 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NAXD CL E G H | 55739 | 25576 | OMIM:618321 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 13 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 67 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 37 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | HP:0040283 - Occasional | | | 7 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | NFKBIA CL E G H | 4792 | 7797 | OMIM:612132 | ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT | . | | | 27 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NFKBIL1 CL E G H | 4795 | 7800 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NGF CL E G H | 4803 | 7808 | OMIM:608654 | Neuropathy, hereditary sensory and autonomic, type V | | | | 20 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | | | | 51 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616115 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4 | | | | 30 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NLRP12 CL E G H | 91662 | 22938 | OMIM:611762 | Familial cold autoinflammatory syndrome 2 | | | | 99 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | HP:0040281 - Very frequent | | | 217 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:617772 | Deafness, autosomal dominant 34, with or without inflammation | . | | | 217 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 | | | | 217 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:47045 | Familial cold urticaria | HP:0040281 - Very frequent | | | 217 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:191900 | Muckle-Wells syndrome | | | | 217 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | HP:0040283 - Occasional | | | 217 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | HP:0040282 - Frequent | | | 187 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NOD2 CL E G H | 64127 | 5331 | OMIM:617321 | YAO SYNDROME; YAOS | | | | 187 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NPHS1 CL E G H | 4868 | 7908 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 241 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NPHS2 CL E G H | 7827 | 13394 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 69 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | | | | 97 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040284 - Very rare | | | 97 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | | | | 97 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | NUP107 CL E G H | 57122 | 29914 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NUP133 CL E G H | 55746 | 18016 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NUP160 CL E G H | 23279 | 18017 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | NUP205 CL E G H | 23165 | 18658 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | NUP37 CL E G H | 79023 | 29929 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | NUP85 CL E G H | 79902 | 8734 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | NUP93 CL E G H | 9688 | 28958 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040283 - Occasional | | | 121 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | ORAI1 CL E G H | 84876 | 25896 | OMIM:612782 | Immunodeficiency 9 | . | | | 19 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ORAI1 CL E G H | 84876 | 25896 | OMIM:612782 | Immunodeficiency 9 | | | | 19 | | |
HP:0004370 | HP:0001945 | Fever | 1 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0004370 | HP:0001945 | Fever | 1 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 3 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | . | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | . | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | PAX2 CL E G H | 5076 | 8616 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | . | | | 63 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PEX6 CL E G H | 5190 | 8859 | OMIM:614863 | Peroxisome biogenesis disorder 4B | | | | 98 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 43 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | HP:0040283 - Occasional | | | 563 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | HP:0040283 - Occasional | | | 133 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PLCE1 CL E G H | 51196 | 17175 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 118 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 3 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040283 - Occasional | | | 150 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:98916 | Acute inflammatory demyelinating polyradiculoneuropathy | | | | 79 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | POFUT1 CL E G H | 23509 | 14988 | ORPHA:79145 | Dowling-Degos disease | HP:0040283 - Occasional | | | 2 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | POGLUT1 CL E G H | 56983 | 22954 | ORPHA:79145 | Dowling-Degos disease | HP:0040283 - Occasional | | | 6 | | |
HP:0004370 | HP:0001945 | Fever | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0004370 | HP:0001945 | Fever | 1 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | . | | | 2 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 36 | | |
HP:0004370 | HP:0001945 | Fever | 1 | POU6F2 CL E G H | 11281 | 21694 | ORPHA:654 | Nephroblastoma | HP:0040283 - Occasional | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 58 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 134 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:615 | Familial atrial myxoma | HP:0040283 - Occasional | | | 134 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PRNP CL E G H | 5621 | 9449 | OMIM:600072 | Fatal familial insomnia | . | | | 69 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 54 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PRSS1 CL E G H | 5644 | 9475 | OMIM:167800 | Pancreatitis, hereditary | . | | | 51 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PRSS2 CL E G H | 5645 | 9483 | OMIM:167800 | Pancreatitis, hereditary | . | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040281 - Very frequent | | | | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 81 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | | | | 81 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | PSENEN CL E G H | 55851 | 30100 | ORPHA:79145 | Dowling-Degos disease | HP:0040283 - Occasional | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PSMB10 CL E G H | 5699 | 9538 | OMIM:619175 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5 | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | PSMG2 CL E G H | 56984 | 24929 | OMIM:619183 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4 | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | PSTPIP1 CL E G H | 9051 | 9580 | ORPHA:69126 | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | HP:0040281 - Very frequent | | | 96 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 3 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040281 - Very frequent | | | 3 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PTPN22 CL E G H | 26191 | 9652 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 3 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 3 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PTPN3 CL E G H | 5774 | 9655 | ORPHA:70567 | Cholangiocarcinoma | HP:0040283 - Occasional | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PTPRO CL E G H | 5800 | 9678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | PTS CL E G H | 5805 | 9689 | OMIM:261640 | Hyperphenylalaninemia, BH4-deficient, A | | | | 19 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | QDPR CL E G H | 5860 | 9752 | OMIM:261630 | Hyperphenylalaninemia, bh4-deficient, C | | | | 43 | | |
HP:0004370 | HP:0001945 | Fever | 1 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | HP:0040283 - Occasional | | | 67 | | |
HP:0004370 | HP:0001945 | Fever | 1 | RAB27A CL E G H | 5873 | 9766 | OMIM:607624 | Griscelli syndrome, type 2 | | | | 67 | | |
HP:0004370 | HP:0001945 | Fever | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0004370 | HP:0001945 | Fever | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040282 - Frequent | | | 127 | | |
HP:0004370 | HP:0001945 | Fever | 1 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0004370 | HP:0001945 | Fever | 1 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040282 - Frequent | | | 50 | | |
HP:0004370 | HP:0001945 | Fever | 1 | RANBP2 CL E G H | 5903 | 9848 | ORPHA:88619 | Familial acute necrotizing encephalopathy | HP:0040282 - Frequent | | | 57 | | |
HP:0004370 | HP:0001945 | Fever | 1 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | RB1 CL E G H | 5925 | 9884 | ORPHA:668 | Osteosarcoma | HP:0040284 - Very rare | | | 365 | | |
HP:0004370 | HP:0001945 | Fever | 1 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | | | | 10 | | |
HP:0004370 | HP:0001945 | Fever | 1 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | REST CL E G H | 5978 | 9966 | ORPHA:654 | Nephroblastoma | HP:0040283 - Occasional | | | 7 | | |
HP:0004370 | HP:0001945 | Fever | 1 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618852 | AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0004370 | HP:0001945 | Fever | 1 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 33 | | |
HP:0004370 | HP:0001945 | Fever | 1 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 34 | | |
HP:0004370 | HP:0001945 | Fever | 1 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 60 | | |
HP:0004370 | HP:0001945 | Fever | 1 | RNF168 CL E G H | 165918 | 26661 | ORPHA:420741 | RIDDLE syndrome | | | | 7 | | |
HP:0004370 | HP:0001945 | Fever | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0004370 | HP:0001945 | Fever | 1 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | RUNX1 CL E G H | 861 | 10471 | ORPHA:521 | Chronic myeloid leukemia | HP:0040282 - Frequent | | | 181 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040284 - Very rare | | | 1200 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:597 | Central core disease | HP:0040282 - Frequent | | | 1200 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:117000 | Central core disease | HP:0040283 - Occasional | | | 1200 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:424107 | Congenital myopathy with myasthenic-like onset | HP:0040282 - Frequent | | | 1200 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | HP:0040281 - Very frequent | | | 1200 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040282 - Frequent | | | 1200 | | |
HP:0004370 | HP:0001945 | Fever | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040282 - Frequent | | | 1200 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:145600 | Malignant hyperthermia, susceptibility to, 1 | . | | | 1200 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 55 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | SCN10A CL E G H | 6336 | 10582 | ORPHA:90026 | Primary erythromelalgia | HP:0040283 - Occasional | | | 146 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | SCN11A CL E G H | 11280 | 10583 | ORPHA:90026 | Primary erythromelalgia | HP:0040283 - Occasional | | | 19 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | HP:0040283 - Occasional | | | 263 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | SCN5A CL E G H | 6331 | 10593 | OMIM:272120 | Sudden infant death syndrome | . | | | 1134 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | SCN9A CL E G H | 6335 | 10597 | ORPHA:90026 | Primary erythromelalgia | HP:0040283 - Occasional | | | 318 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040283 - Occasional | | | 67 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040283 - Occasional | | | 61 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040283 - Occasional | | | 57 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | SH2B3 CL E G H | 10019 | 29605 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 4 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SH3KBP1 CL E G H | 30011 | 13867 | OMIM:300310 | Immunodeficiency 61 | | | | 2 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | SHQ1 CL E G H | 55164 | 25543 | OMIM:619922 | | | | | | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SLC11A1 CL E G H | 6556 | 10907 | ORPHA:3389 | Tuberculosis | HP:0040282 - Frequent | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | . | | | 75 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | SLC18A2 CL E G H | 6571 | 10935 | OMIM:618049 | Parkinsonism-Dystonia, infantile, 2 | . | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | . | | | 110 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SLC22A4 CL E G H | 6583 | 10968 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 3 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | SLC25A19 CL E G H | 60386 | 14409 | ORPHA:99742 | Amish lethal microcephaly | HP:0040282 - Frequent | | | 36 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | HP:0040283 - Occasional | | | 40 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | | | | 68 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SLC34A2 CL E G H | 10568 | 11020 | ORPHA:60025 | Pulmonary alveolar microlithiasis | HP:0040284 - Very rare | | | 7 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | | | | 71 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SLC41A1 CL E G H | 254428 | 19429 | OMIM:619468 | NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2 | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 109 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | SLC52A1 CL E G H | 55065 | 30225 | OMIM:615026 | Riboflavin deficiency | | | | 3 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SLC5A1 CL E G H | 6523 | 11036 | ORPHA:35710 | Glucose-galactose malabsorption | HP:0040284 - Very rare | | | 74 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 59 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 135 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | SPINK1 CL E G H | 6690 | 11244 | OMIM:167800 | Pancreatitis, hereditary | . | | | 34 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | SPR CL E G H | 6697 | 11257 | ORPHA:70594 | Dopa-responsive dystonia due to sepiapterin reductase deficiency | HP:0040282 - Frequent | | | 28 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:288 | Hereditary elliptocytosis | HP:0040284 - Very rare | | | 228 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 228 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SPTB CL E G H | 6710 | 11274 | ORPHA:288 | Hereditary elliptocytosis | HP:0040284 - Very rare | | | 156 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 156 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 1 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | STAC3 CL E G H | 246329 | 28423 | OMIM:255995 | Myopathy, congenital, bailey-bloch | . | | | 14 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | STAC3 CL E G H | 246329 | 28423 | ORPHA:168572 | Native American myopathy | HP:0040282 - Frequent | | | 14 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0004370 | HP:0001945 | Fever | 1 | STAT2 CL E G H | 6773 | 11363 | OMIM:618886 | PSEUDO-TORCH SYNDROME 3; PTORCH3 | | | | 9 | | |
HP:0004370 | HP:0001945 | Fever | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 110 | | |
HP:0004370 | HP:0001945 | Fever | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | HP:0040283 - Occasional | | | 110 | | |
HP:0004370 | HP:0001945 | Fever | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0004370 | HP:0001945 | Fever | 1 | STAT6 CL E G H | 6778 | 11368 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | HP:0040284 - Very rare | | | 1 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0004370 | HP:0001945 | Fever | 1 | STIM1 CL E G H | 6786 | 11386 | OMIM:612783 | Immunodeficiency 10 | | | | 31 | | |
HP:0004370 | HP:0001945 | Fever | 1 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 85 | | |
HP:0004370 | HP:0001945 | Fever | 1 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0004370 | HP:0001945 | Fever | 1 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 70 | | |
HP:0004370 | HP:0001945 | Fever | 1 | STXBP2 CL E G H | 6813 | 11445 | OMIM:613101 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 | | | | 70 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | HP:0040283 - Occasional | | | 60 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | | | | 60 | | |
HP:0004370 | HP:0001945 | Fever | 1 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TBC1D8B CL E G H | 54885 | 24715 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TBK1 CL E G H | 29110 | 11584 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 20 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 22 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 241 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 82 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 3 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 3 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 155 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TH CL E G H | 7054 | 11782 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040283 - Occasional | | | 80 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TICAM1 CL E G H | 148022 | 18348 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 6 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TLR3 CL E G H | 7098 | 11849 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 3 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 3 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | | | | 24 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TNFAIP3 CL E G H | 7128 | 11896 | OMIM:616744 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL | | | | 26 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TNFRSF1A CL E G H | 7132 | 11916 | OMIM:142680 | Periodic fever, familial, autosomal dominant | | | | 131 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | | | | 131 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:668 | Osteosarcoma | HP:0040284 - Very rare | | | 911 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 92 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TRAF3 CL E G H | 7187 | 12033 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 2 | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | TRAF6 CL E G H | 7189 | 12036 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0002047 | Malignant hyperthermia | 1 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 158 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 56 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | . | | | 56 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TRIM28 CL E G H | 10155 | 16384 | ORPHA:654 | Nephroblastoma | HP:0040283 - Occasional | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:654 | Nephroblastoma | HP:0040283 - Occasional | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | TRPC6 CL E G H | 7225 | 12338 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 107 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TSC1 CL E G H | 7248 | 12362 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040283 - Occasional | | | 1090 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TSC2 CL E G H | 7249 | 12363 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040283 - Occasional | | | 2738 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | TSHR CL E G H | 7253 | 12373 | ORPHA:90673 | Hypothyroidism due to TSH receptor mutations | HP:0040284 - Very rare | | | 97 | | |
HP:0004370 | HP:0001945 | Fever | 1 | TSPOAP1 CL E G H | 9256 | 16831 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040283 - Occasional | | | 2 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | TSPYL1 CL E G H | 7259 | 12382 | OMIM:608800 | Sudden infant death with dysgenesis of the testes syndrome | | | | 1 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | TSPYL1 CL E G H | 7259 | 12382 | ORPHA:168593 | Sudden infant death-dysgenesis of the testes syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | UBA1 CL E G H | 7317 | 12469 | OMIM:301054 | VEXAS SYNDROME; VEXAS | | | | 35 | | |
HP:0004370 | HP:0001945 | Fever | 1 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | HP:0040283 - Occasional | | | 278 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040283 - Occasional | | | 278 | | |
HP:0004370 | HP:0002046 | Heat intolerance | 1 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98795 | Angelman syndrome due to paternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 278 | | |
HP:0004370 | HP:0001945 | Fever | 1 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 116 | | |
HP:0004370 | HP:0001945 | Fever | 1 | UNC13D CL E G H | 201294 | 23147 | OMIM:608898 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 | | | | 116 | | |
HP:0004370 | HP:0001945 | Fever | 1 | UNC93B1 CL E G H | 81622 | 13481 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 5 | | |
HP:0004370 | HP:0002045 | Hypothermia | 1 | UQCRFS1 CL E G H | 7386 | 12587 | OMIM:618775 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10 | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563609 | Isolated anencephaly | | | | 2 | | |
HP:0004370 | HP:0001945 | Fever | 1 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563612 | Isolated exencephaly | | | | 2 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | VPS11 CL E G H | 55823 | 14583 | OMIM:616683 | Leukodystrophy, hypomyelinating, 12 | | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0004370 | HP:0001945 | Fever | 1 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0004370 | HP:0001945 | Fever | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 177 | | |
HP:0004370 | HP:0001945 | Fever | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:654 | Nephroblastoma | HP:0040283 - Occasional | | | 177 | | |
HP:0004370 | HP:0001945 | Fever | 1 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0004370 | HP:0001945 | Fever | 1 | XIAP CL E G H | 331 | 592 | OMIM:300635 | Lymphoproliferative syndrome, X-linked, 2 | | | | 81 | | |
HP:0004370 | HP:0001945 | Fever | 1 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 34 | | |
HP:0004370 | HP:0001945 | Fever | 1 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 86 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 1 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ZFHX2 CL E G H | 85446 | 20152 | OMIM:147430 | Marsili syndrome | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | ZFYVE19 CL E G H | 84936 | 20758 | OMIM:619849 | | | | | | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0004370 | HP:0005968 | Temperature instability | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0004370 | HP:0001945 | Fever | 1 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0004370 | HP:0001945 | Fever | 1 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | | | | 75 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0004370 | HP:0001955 | Unexplained fevers | 2 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 116 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | ALPK1 CL E G H | 80216 | 20917 | OMIM:614979 | Splenomegaly, cytopenia, and vision loss | | | | | | |
HP:0004370 | HP:0011134 | Low-grade fever | 2 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001955 | Unexplained fevers | 2 | AQP2 CL E G H | 359 | 634 | OMIM:125800 | Diabetes insipidus, nephrogenic, 2 | . | | | 75 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040283 - Occasional | | | 78 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | ASAH1 CL E G H | 427 | 735 | OMIM:228000 | Farber lipogranulomatosis | | | | 78 | | |
HP:0004370 | HP:0001955 | Unexplained fevers | 2 | AVPR2 CL E G H | 554 | 897 | OMIM:304800 | Diabetes insipidus, nephrogenic, X-linked | . | | | 67 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | BCAP31 CL E G H | 10134 | 16695 | ORPHA:369939 | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | C2ORF69 CL E G H | 205327 | 26799 | OMIM:619423 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53 | | | | | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | C3 CL E G H | 718 | 1318 | OMIM:613779 | Complement component 3 deficiency, autosomal recessive | | | | 92 | | |
HP:0004370 | HP:0011134 | Low-grade fever | 2 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 1 | | |
HP:0004370 | HP:0011134 | Low-grade fever | 2 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 8 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | CD70 CL E G H | 970 | 11937 | OMIM:618261 | LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3 | | | | | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | CEBPE CL E G H | 1053 | 1836 | OMIM:260570 | Pelger-Huet-Like anomaly and episodic fever with abdominal pain | . | | | 3 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | COG6 CL E G H | 57511 | 18621 | ORPHA:363523 | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | HP:0040282 - Frequent | | | 71 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | . | | | 24 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:203400 | Corticosterone methyloxidase type I deficiency | . | | | 73 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | CYP21A2 CL E G H | 1589 | 2600 | OMIM:201910 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | . | | | 86 | | |
HP:0004370 | HP:0005964 | Intermittent hypothermia | 2 | DBH CL E G H | 1621 | 2689 | OMIM:223360 | Dopamine beta-hydroxylase deficiency, congenital | . | | | 80 | | |
HP:0004370 | HP:0005964 | Intermittent hypothermia | 2 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | . | | | 43 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | DNASE2 CL E G H | 1777 | 2960 | OMIM:619858 | | | | | | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0004370 | HP:0033031 | Hyperpyrexia | 2 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | | | | 108 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040282 - Frequent | | | 79 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | . | | | 133 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0004370 | HP:0001955 | Unexplained fevers | 2 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | HP:0040281 - Very frequent | | | 160 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | GALC CL E G H | 2581 | 4115 | OMIM:245200 | Krabbe disease | . | | | 160 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | GCH1 CL E G H | 2643 | 4193 | OMIM:233910 | Hyperphenylalaninemia, BH4-deficient, B | . | | | 86 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040283 - Occasional | | | 580 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040283 - Occasional | | | 580 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040283 - Occasional | | | 8 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040283 - Occasional | | | 8 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | . | | | 16 | | |
HP:0004370 | HP:0001955 | Unexplained fevers | 2 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | IFIH1 CL E G H | 64135 | 18873 | OMIM:619773 | IMMUNODEFICIENCY 95; IMD95 | | | | 28 | | |
HP:0004370 | HP:0011134 | Low-grade fever | 2 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 65 | | |
HP:0004370 | HP:0011134 | Low-grade fever | 2 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040281 - Very frequent | | | 48 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0004370 | HP:0011134 | Low-grade fever | 2 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 57 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | LACC1 CL E G H | 144811 | 26789 | OMIM:618795 | JUVENILE ARTHRITIS; JUVAR | | | | 1 | | |
HP:0004370 | HP:0001955 | Unexplained fevers | 2 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 116 | | |
HP:0004370 | HP:0001955 | Unexplained fevers | 2 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 167 | | |
HP:0004370 | HP:0001955 | Unexplained fevers | 2 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 135 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | LIFR CL E G H | 3977 | 6597 | ORPHA:3206 | Stüve-Wiedemann syndrome | HP:0040281 - Very frequent | | | 144 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | . | | | 144 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | LPIN2 CL E G H | 9663 | 14450 | OMIM:609628 | MAJEED SYNDROME; MJDS | | | | 186 | | |
HP:0004370 | HP:0001955 | Unexplained fevers | 2 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | MEFV CL E G H | 4210 | 6998 | OMIM:134610 | FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT | | | | 281 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | MEFV CL E G H | 4210 | 6998 | OMIM:608068 | NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE | | | | 281 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | | | | 281 | | |
HP:0004370 | HP:0011134 | Low-grade fever | 2 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 97 | | |
HP:0004370 | HP:0030244 | Maternal fever in pregnancy | 2 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563609 | Isolated anencephaly | HP:0040283 - Occasional | | | 183 | | |
HP:0004370 | HP:0030244 | Maternal fever in pregnancy | 2 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563612 | Isolated exencephaly | HP:0040283 - Occasional | | | 183 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | MVK CL E G H | 4598 | 7530 | ORPHA:343 | Hyperimmunoglobulinemia D with periodic fever | HP:0040281 - Very frequent | | | 150 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | NAXD CL E G H | 55739 | 25576 | OMIM:618321 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | | | | | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | NGF CL E G H | 4803 | 7808 | OMIM:608654 | Neuropathy, hereditary sensory and autonomic, type V | HP:0040283 - Occasional | | | 20 | | |
HP:0004370 | HP:0001955 | Unexplained fevers | 2 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | HP:0040284 - Very rare | | | 51 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | NLRP12 CL E G H | 91662 | 22938 | OMIM:611762 | Familial cold autoinflammatory syndrome 2 | | | | 99 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | NLRP3 CL E G H | 114548 | 16400 | OMIM:617772 | Deafness, autosomal dominant 34, with or without inflammation | | | | 217 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | NLRP3 CL E G H | 114548 | 16400 | OMIM:120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 | | | | 217 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | NLRP3 CL E G H | 114548 | 16400 | OMIM:191900 | Muckle-Wells syndrome | | | | 217 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | NOD2 CL E G H | 64127 | 5331 | OMIM:617321 | YAO SYNDROME; YAOS | | | | 187 | | |
HP:0004370 | HP:0001955 | Unexplained fevers | 2 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040283 - Occasional | | | 97 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040282 - Frequent | | | 97 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | . | | | 97 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | ORAI1 CL E G H | 84876 | 25896 | OMIM:612782 | Immunodeficiency 9 | . | | | 19 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | PEX6 CL E G H | 5190 | 8859 | OMIM:614863 | Peroxisome biogenesis disorder 4B | . | | | 98 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | PMP22 CL E G H | 5376 | 9118 | ORPHA:98916 | Acute inflammatory demyelinating polyradiculoneuropathy | HP:0040282 - Frequent | | | 79 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0004370 | HP:0001955 | Unexplained fevers | 2 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | HP:0040281 - Very frequent | | | 81 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | | | | | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | | | | | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | PSMG2 CL E G H | 56984 | 24929 | OMIM:619183 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4 | | | | | | |
HP:0004370 | HP:0011134 | Low-grade fever | 2 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0004370 | HP:0011134 | Low-grade fever | 2 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 3 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | PTS CL E G H | 5805 | 9689 | OMIM:261640 | Hyperphenylalaninemia, BH4-deficient, A | . | | | 19 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | QDPR CL E G H | 5860 | 9752 | OMIM:261630 | Hyperphenylalaninemia, bh4-deficient, C | . | | | 43 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | | | | 10 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618852 | AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL | | | | | | |
HP:0004370 | HP:0001955 | Unexplained fevers | 2 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0004370 | HP:0001955 | Unexplained fevers | 2 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0004370 | HP:0001955 | Unexplained fevers | 2 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | RNF168 CL E G H | 165918 | 26661 | ORPHA:420741 | RIDDLE syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0004370 | HP:0001955 | Unexplained fevers | 2 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0004370 | HP:0001955 | Unexplained fevers | 2 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | SH3KBP1 CL E G H | 30011 | 13867 | OMIM:300310 | Immunodeficiency 61 | . | | | 2 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040282 - Frequent | | | 71 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | SLC41A1 CL E G H | 254428 | 19429 | OMIM:619468 | NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2 | | | | | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | STAT2 CL E G H | 6773 | 11363 | OMIM:618886 | PSEUDO-TORCH SYNDROME 3; PTORCH3 | | | | 9 | | |
HP:0004370 | HP:0011134 | Low-grade fever | 2 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | STIM1 CL E G H | 6786 | 11386 | OMIM:612783 | Immunodeficiency 10 | . | | | 31 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | STXBP2 CL E G H | 6813 | 11445 | OMIM:613101 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 | | | | 70 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0004370 | HP:0011134 | Low-grade fever | 2 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 3 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0004370 | HP:0001955 | Unexplained fevers | 2 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | HP:0040283 - Occasional | | | 24 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | TNFAIP3 CL E G H | 7128 | 11896 | OMIM:616744 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL | | | | 26 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | TNFRSF1A CL E G H | 7132 | 11916 | OMIM:142680 | Periodic fever, familial, autosomal dominant | | | | 131 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | HP:0040281 - Very frequent | | | 131 | | |
HP:0004370 | HP:0001955 | Unexplained fevers | 2 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | UBA1 CL E G H | 7317 | 12469 | OMIM:301054 | VEXAS SYNDROME; VEXAS | | | | 35 | | |
HP:0004370 | HP:0030244 | Maternal fever in pregnancy | 2 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563609 | Isolated anencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0004370 | HP:0030244 | Maternal fever in pregnancy | 2 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563612 | Isolated exencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | XIAP CL E G H | 331 | 592 | OMIM:300635 | Lymphoproliferative syndrome, X-linked, 2 | . | | | 81 | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | ZFHX2 CL E G H | 85446 | 20152 | OMIM:147430 | Marsili syndrome | | | | | | |
HP:0004370 | HP:0001954 | Recurrent fever | 2 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0004370 | HP:0033399 | Persistent fever | 2 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0004370 | HP:0030245 | Intrapartum fever | 3 | CL E G H | | | | | | | | | | |
HP:0004370 | HP:0030246 | Maternal first trimester fever | 3 | CL E G H | | | | | | | | | | |
HP:0004370 | HP:0032323 | Periodic fever | 3 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040282 - Frequent | | | 79 | | |
HP:0004370 | HP:0032323 | Periodic fever | 3 | LACC1 CL E G H | 144811 | 26789 | OMIM:618795 | JUVENILE ARTHRITIS; JUVAR | | | | 1 | | |
HP:0004370 | HP:0032324 | Non-periodic recurrent fever | 3 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | HP:0040282 - Frequent | | | 281 | | |
HP:0004370 | HP:0032323 | Periodic fever | 3 | NLRP3 CL E G H | 114548 | 16400 | OMIM:617772 | Deafness, autosomal dominant 34, with or without inflammation | . | | | 217 | | |
HP:0004370 | HP:0032323 | Periodic fever | 3 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0004370 | HP:0033087 | Quotidian fever | 4 | LACC1 CL E G H | 144811 | 26789 | OMIM:618795 | JUVENILE ARTHRITIS; JUVAR | | | | 1 | | |