Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0002094 | HP:0002094 | Dyspnea | 0 | ABCG5 CL E G H | 64240 | 391665 | | | | ORPHA | 1 | | 605 | 13886 | 605459 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | ABCG8 CL E G H | 64241 | 391665 | | | | ORPHA | 1 | | 659 | 13887 | 605460 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | ACVRL1 CL E G H | 94 | 600376 | Hereditary hemorrhagic telangiectasia type 2 | 600376 | C1838163 | OMIM | 1 | | 888 | 175 | 601284 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | ANG CL E G H | 283 | 803 | | | | ORPHA | 1 | | 114 | 483 | 105850 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | ANXA11 CL E G H | 311 | 803 | | | | ORPHA | 1 | | 305 | 535 | 602572 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | APOB CL E G H | 338 | 391665 | | | | ORPHA | 1 | | 2916 | 603 | 107730 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | ATRX CL E G H | 546 | 231401 | | | | ORPHA | 1 | | 1925 | 886 | 300032 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | ATXN2 CL E G H | 6311 | 803 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | BMPR2 CL E G H | 659 | 178600 | Primary pulmonary hypertension | 178600 | C0152171 | OMIM | 1 | | 1028 | 1078 | 600799 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | BTNL2 CL E G H | 56244 | 797 | | | | ORPHA | 1 | | 30 | 1142 | 606000 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | C9orf72 CL E G H | 203228 | 803 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | CASR CL E G H | 846 | 239200 | Neonatal severe hyperparathyroidism | 239200 | C1832615 | OMIM | 1 | | 2330 | 1514 | 601199 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | CAV1 CL E G H | 857 | 220393 | | | | ORPHA | 1 | | 135 | 1527 | 601047 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | CAV1 CL E G H | 857 | 615343 | Primary pulmonary hypertension 3 | 615343 | C3809192 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | CCN2 CL E G H | 1490 | 220393 | | | | ORPHA | 1 | | 32 | 2500 | 121009 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | CCNF CL E G H | 899 | 803 | | | | ORPHA | 1 | | 151 | 1591 | 600227 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | CCR6 CL E G H | 1235 | 220393 | | | | ORPHA | 1 | | 65 | 1607 | 601835 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | CFAP410 CL E G H | 755 | 803 | | | | ORPHA | 1 | | 459 | 1260 | 603191 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | CHCHD10 CL E G H | 400916 | 803 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | CHMP2B CL E G H | 25978 | 803 | | | | ORPHA | 1 | | 160 | 24537 | 609512 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | CRLF1 CL E G H | 9244 | 272430 | Cold-induced sweating syndrome 1 | 272430 | C1848947 | OMIM | 1 | | 148 | 2364 | 604237 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | CSF2RB CL E G H | 1439 | 614370 | Surfactant metabolism dysfunction, pulmonary, 5 | 614370 | C3280574 | OMIM | 1 | | 533 | 2436 | 138981 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 1074 | 26193 | 611654 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | DAO CL E G H | 1610 | 803 | | | | ORPHA | 1 | | 65 | 2671 | 124050 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | DCTN1 CL E G H | 1639 | 803 | | | | ORPHA | 1 | | 1084 | 2711 | 601143 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | DNASE1L3 CL E G H | 1776 | 36412 | | | | ORPHA | 1 | | 200 | 2959 | 602244 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | DSC2 CL E G H | 1824 | 610476 | Arrhythmogenic right ventricular cardiomyopathy, type 11 | 610476 | C1864850 | OMIM | 1 | | 1402 | 3036 | 125645 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | EIF2AK4 CL E G H | 440275 | 234810 | Familial pulmonary capillary hemangiomatosis | 234810 | C0340848 | OMIM | 1 | | 361 | 19687 | 609280 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | ENG CL E G H | 2022 | 187300 | Osler hemorrhagic telangiectasia syndrome | 187300 | C0039445 | OMIM | 1 | | 1413 | 3349 | 131195 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | EPHA4 CL E G H | 2043 | 803 | | | | ORPHA | 1 | | 193 | 3388 | 602188 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | ERBB4 CL E G H | 2066 | 803 | | | | ORPHA | 1 | | 462 | 3432 | 600543 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | FBP1 CL E G H | 2203 | 229700 | Fructose-biphosphatase deficiency | 229700 | C0016756 | OMIM | 1 | | 212 | 3606 | 611570 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | FIG4 CL E G H | 9896 | 803 | | | | ORPHA | 1 | | 926 | 16873 | 609390 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | FLNC CL E G H | 2318 | 617047 | Cardiomyopathy, familial hypertrophic, 26 | 617047 | C4310749 | OMIM | 1 | | 4208 | 3756 | 102565 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | FUS CL E G H | 2521 | 803 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | GAA CL E G H | 2548 | 232300 | Glycogen storage disease, type II | 232300 | C0017921 | OMIM | 1 | | 2442 | 4065 | 606800 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | GBA CL E G H | 2629 | 230800 | Gaucher's disease, type 1 | 230800 | C1961835 | OMIM | 1 | | | 4177 | 606463 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | GLE1 CL E G H | 2733 | 803 | | | | ORPHA | 1 | | 475 | 4315 | 603371 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 1 | | 1600 | 4827 | 141900 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | HLA-DRB1 CL E G H | 3123 | 220393 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | HLA-DRB1 CL E G H | 3123 | 797 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | HNRNPA1 CL E G H | 3178 | 803 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | IRF5 CL E G H | 3663 | 220393 | | | | ORPHA | 1 | | 65 | 6120 | 607218 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | ISCU CL E G H | 23479 | 255125 | Myopathy with lactic acidosis, hereditary | 255125 | C1850718 | OMIM | 1 | | 160 | 29882 | 611911 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | JPH2 CL E G H | 57158 | 613873 | Familial hypertrophic cardiomyopathy 17 | 613873 | C3151264 | OMIM | 1 | | 770 | 14202 | 605267 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 151 | 6267 | 600877 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | LAMA3 CL E G H | 3909 | 79404 | | | | ORPHA | 1 | | 1379 | 6483 | 600805 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | LAMB3 CL E G H | 3914 | 79404 | | | | ORPHA | 1 | | 1020 | 6490 | 150310 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | LAMC2 CL E G H | 3918 | 79404 | | | | ORPHA | 1 | | 909 | 6493 | 150292 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | LDLR CL E G H | 3949 | 391665 | | | | ORPHA | 1 | | 3819 | 6547 | 606945 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | LDLRAP1 CL E G H | 26119 | 391665 | | | | ORPHA | 1 | | 436 | 18640 | 605747 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | MATR3 CL E G H | 9782 | 803 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | MGME1 CL E G H | 92667 | 352447 | | | | ORPHA | 1 | | 157 | 16205 | 615076 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 157 | 16205 | 615076 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | MRPL3 CL E G H | 11222 | 614582 | Combined oxidative phosphorylation deficiency 9 | 614582 | C3281234 | OMIM | 1 | | 109 | 10379 | 607118 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | MYL2 CL E G H | 4633 | 608758 | Familial hypertrophic cardiomyopathy 10 | 608758 | C1834460 | OMIM | 1 | | 496 | 7583 | 160781 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | NEFH CL E G H | 4744 | 803 | | | | ORPHA | 1 | | 714 | 7737 | 162230 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | NEK1 CL E G H | 4750 | 803 | | | | ORPHA | 1 | | 679 | 7744 | 604588 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | NPPA CL E G H | 4878 | 615745 | Atrial standstill 2 | 615745 | C3810401 | OMIM | 1 | | 182 | 7939 | 108780 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | OPTN CL E G H | 10133 | 803 | | | | ORPHA | 1 | | 428 | 17142 | 602432 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | ORC6 CL E G H | 23594 | 613803 | Meier-Gorlin syndrome 3 | 613803 | C3151113 | OMIM | 1 | | 164 | 17151 | 607213 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | PCSK9 CL E G H | 255738 | 391665 | | | | ORPHA | 1 | | 1000 | 20001 | 607786 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | PFN1 CL E G H | 5216 | 803 | | | | ORPHA | 1 | | 101 | 8881 | 176610 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | PIGT CL E G H | 51604 | 615399 | Paroxysmal nocturnal hemoglobinuria 2 | 615399 | C3809369 | OMIM | 1 | | 277 | 14938 | 610272 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | PON1 CL E G H | 5444 | 803 | | | | ORPHA | 1 | | 65 | 9204 | 168820 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | PON2 CL E G H | 5445 | 803 | | | | ORPHA | 1 | | 68 | 9205 | 602447 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | PON3 CL E G H | 5446 | 803 | | | | ORPHA | 1 | | 62 | 9206 | 602720 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | PPARGC1A CL E G H | 10891 | 803 | | | | ORPHA | 1 | | 71 | 9237 | 604517 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | PRPH CL E G H | 5630 | 803 | | | | ORPHA | 1 | | 76 | 9461 | 170710 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 261 | 34016 | 601428 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | SCN5A CL E G H | 6331 | 113900 | Progressive familial heart block type 1A | 113900 | C1879286 | OMIM | 1 | | 3531 | 10593 | 600163 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | SERPINA1 CL E G H | 5265 | 613490 | Alpha-1-antitrypsin deficiency | 613490 | C0221757 | OMIM | 1 | | 423 | 8941 | 107400 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | SFTPB CL E G H | 6439 | 265120 | Surfactant metabolism dysfunction, pulmonary, 1 | 265120 | C1968602 | OMIM | 1 | | 195 | 10801 | 178640 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | SMPD1 CL E G H | 6609 | 607616 | Niemann-Pick disease, type B | 607616 | C0268243 | OMIM | 1 | | 864 | 11120 | 607608 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | SOD1 CL E G H | 6647 | 803 | | | | ORPHA | 1 | | 294 | 11179 | 147450 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | SQSTM1 CL E G H | 8878 | 803 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | TAF15 CL E G H | 8148 | 803 | | | | ORPHA | 1 | | 125 | 11547 | 601574 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | TARDBP CL E G H | 23435 | 803 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | TBK1 CL E G H | 29110 | 803 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | TNNC1 CL E G H | 7134 | 613243 | Familial hypertrophic cardiomyopathy 13 | 613243 | C2750472 | OMIM | 1 | | 300 | 11943 | 191040 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | TREM2 CL E G H | 54209 | 803 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 1 | | 4172 | 12362 | 605284 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 1 | | 9638 | 12363 | 191092 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | UBQLN2 CL E G H | 29978 | 803 | | | | ORPHA | 1 | | 273 | 12509 | 300264 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | UNC13A CL E G H | 23025 | 803 | | | | ORPHA | 1 | | 140 | 23150 | 609894 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | VAPB CL E G H | 9217 | 803 | | | | ORPHA | 1 | | 359 | 12649 | 605704 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | VCL CL E G H | 7414 | 613255 | Familial hypertrophic cardiomyopathy 15 | 613255 | C2750459 | OMIM | 1 | | 1175 | 12665 | 193065 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | VCP CL E G H | 7415 | 803 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 1 | | 603 | 12731 | 300392 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 1 | | 279 | 12736 | 602357 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | ABCG5 CL E G H | 64240 | 391665 | | | | ORPHA | 1 | | 605 | 13886 | 605459 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | ABCG5 CL E G H | 64240 | 391665 | | | | ORPHA | 1 | | 605 | 13886 | 605459 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | ABCG5 CL E G H | 64240 | 391665 | | | | ORPHA | 1 | | 605 | 13886 | 605459 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | ABCG5 CL E G H | 64240 | 391665 | | | | ORPHA | 1 | | 605 | 13886 | 605459 |
HP:0002094 | HP:0033368 | Platypnea | 1 | ABCG5 CL E G H | 64240 | 391665 | | | | ORPHA | 1 | | 605 | 13886 | 605459 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | ABCG5 CL E G H | 64240 | 391665 | | | | ORPHA | 1 | | 605 | 13886 | 605459 |
HP:0002094 | HP:0033368 | Platypnea | 1 | ABCG8 CL E G H | 64241 | 391665 | | | | ORPHA | 1 | | 659 | 13887 | 605460 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | ABCG8 CL E G H | 64241 | 391665 | | | | ORPHA | 1 | | 659 | 13887 | 605460 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | ABCG8 CL E G H | 64241 | 391665 | | | | ORPHA | 1 | | 659 | 13887 | 605460 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | ABCG8 CL E G H | 64241 | 391665 | | | | ORPHA | 1 | | 659 | 13887 | 605460 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | ABCG8 CL E G H | 64241 | 391665 | | | | ORPHA | 1 | | 659 | 13887 | 605460 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | ABCG8 CL E G H | 64241 | 391665 | | | | ORPHA | 1 | | 659 | 13887 | 605460 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | ACVRL1 CL E G H | 94 | 600376 | Hereditary hemorrhagic telangiectasia type 2 | 600376 | C1838163 | OMIM | 1 | | 888 | 175 | 601284 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | ACVRL1 CL E G H | 94 | 600376 | Hereditary hemorrhagic telangiectasia type 2 | 600376 | C1838163 | OMIM | 1 | | 888 | 175 | 601284 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | ACVRL1 CL E G H | 94 | 600376 | Hereditary hemorrhagic telangiectasia type 2 | 600376 | C1838163 | OMIM | 1 | | 888 | 175 | 601284 |
HP:0002094 | HP:0033368 | Platypnea | 1 | ACVRL1 CL E G H | 94 | 600376 | Hereditary hemorrhagic telangiectasia type 2 | 600376 | C1838163 | OMIM | 1 | | 888 | 175 | 601284 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | ACVRL1 CL E G H | 94 | 600376 | Hereditary hemorrhagic telangiectasia type 2 | 600376 | C1838163 | OMIM | 1 | | 888 | 175 | 601284 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | ACVRL1 CL E G H | 94 | 600376 | Hereditary hemorrhagic telangiectasia type 2 | 600376 | C1838163 | OMIM | 1 | | 888 | 175 | 601284 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | ANG CL E G H | 283 | 803 | | | | ORPHA | 1 | | 114 | 483 | 105850 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | ANG CL E G H | 283 | 803 | | | | ORPHA | 1 | | 114 | 483 | 105850 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | ANG CL E G H | 283 | 803 | | | | ORPHA | 1 | | 114 | 483 | 105850 |
HP:0002094 | HP:0033368 | Platypnea | 1 | ANG CL E G H | 283 | 803 | | | | ORPHA | 1 | | 114 | 483 | 105850 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | ANG CL E G H | 283 | 803 | | | | ORPHA | 1 | | 114 | 483 | 105850 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | ANG CL E G H | 283 | 803 | | | | ORPHA | 1 | | 114 | 483 | 105850 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | ANXA11 CL E G H | 311 | 803 | | | | ORPHA | 1 | | 305 | 535 | 602572 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | ANXA11 CL E G H | 311 | 803 | | | | ORPHA | 1 | | 305 | 535 | 602572 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | ANXA11 CL E G H | 311 | 803 | | | | ORPHA | 1 | | 305 | 535 | 602572 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | ANXA11 CL E G H | 311 | 803 | | | | ORPHA | 1 | | 305 | 535 | 602572 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | ANXA11 CL E G H | 311 | 803 | | | | ORPHA | 1 | | 305 | 535 | 602572 |
HP:0002094 | HP:0033368 | Platypnea | 1 | ANXA11 CL E G H | 311 | 803 | | | | ORPHA | 1 | | 305 | 535 | 602572 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | APOB CL E G H | 338 | 391665 | | | | ORPHA | 1 | | 2916 | 603 | 107730 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | APOB CL E G H | 338 | 391665 | | | | ORPHA | 1 | | 2916 | 603 | 107730 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | APOB CL E G H | 338 | 391665 | | | | ORPHA | 1 | | 2916 | 603 | 107730 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | APOB CL E G H | 338 | 391665 | | | | ORPHA | 1 | | 2916 | 603 | 107730 |
HP:0002094 | HP:0033368 | Platypnea | 1 | APOB CL E G H | 338 | 391665 | | | | ORPHA | 1 | | 2916 | 603 | 107730 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | APOB CL E G H | 338 | 391665 | | | | ORPHA | 1 | | 2916 | 603 | 107730 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0002094 | HP:0033368 | Platypnea | 1 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0002094 | HP:0033368 | Platypnea | 1 | ATRX CL E G H | 546 | 231401 | | | | ORPHA | 1 | | 1925 | 886 | 300032 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | ATRX CL E G H | 546 | 231401 | | | | ORPHA | 1 | | 1925 | 886 | 300032 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | ATRX CL E G H | 546 | 231401 | | | | ORPHA | 1 | | 1925 | 886 | 300032 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | ATRX CL E G H | 546 | 231401 | | | | ORPHA | 1 | | 1925 | 886 | 300032 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | ATRX CL E G H | 546 | 231401 | | | | ORPHA | 1 | | 1925 | 886 | 300032 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | ATRX CL E G H | 546 | 231401 | | | | ORPHA | 1 | | 1925 | 886 | 300032 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | ATXN2 CL E G H | 6311 | 803 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | ATXN2 CL E G H | 6311 | 803 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | ATXN2 CL E G H | 6311 | 803 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0002094 | HP:0033368 | Platypnea | 1 | ATXN2 CL E G H | 6311 | 803 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | ATXN2 CL E G H | 6311 | 803 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | ATXN2 CL E G H | 6311 | 803 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | BMPR2 CL E G H | 659 | 178600 | Primary pulmonary hypertension | 178600 | C0152171 | OMIM | 1 | | 1028 | 1078 | 600799 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | BMPR2 CL E G H | 659 | 178600 | Primary pulmonary hypertension | 178600 | C0152171 | OMIM | 1 | | 1028 | 1078 | 600799 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | BMPR2 CL E G H | 659 | 178600 | Primary pulmonary hypertension | 178600 | C0152171 | OMIM | 1 | | 1028 | 1078 | 600799 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | BMPR2 CL E G H | 659 | 178600 | Primary pulmonary hypertension | 178600 | C0152171 | OMIM | 1 | | 1028 | 1078 | 600799 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | BMPR2 CL E G H | 659 | 178600 | Primary pulmonary hypertension | 178600 | C0152171 | OMIM | 1 | | 1028 | 1078 | 600799 |
HP:0002094 | HP:0033368 | Platypnea | 1 | BMPR2 CL E G H | 659 | 178600 | Primary pulmonary hypertension | 178600 | C0152171 | OMIM | 1 | | 1028 | 1078 | 600799 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | BTNL2 CL E G H | 56244 | 797 | | | | ORPHA | 1 | | 30 | 1142 | 606000 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | BTNL2 CL E G H | 56244 | 797 | | | | ORPHA | 1 | | 30 | 1142 | 606000 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | BTNL2 CL E G H | 56244 | 797 | | | | ORPHA | 1 | | 30 | 1142 | 606000 |
HP:0002094 | HP:0033368 | Platypnea | 1 | BTNL2 CL E G H | 56244 | 797 | | | | ORPHA | 1 | | 30 | 1142 | 606000 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | BTNL2 CL E G H | 56244 | 797 | | | | ORPHA | 1 | | 30 | 1142 | 606000 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | BTNL2 CL E G H | 56244 | 797 | | | | ORPHA | 1 | | 30 | 1142 | 606000 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | C9orf72 CL E G H | 203228 | 803 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | C9orf72 CL E G H | 203228 | 803 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | C9orf72 CL E G H | 203228 | 803 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | C9orf72 CL E G H | 203228 | 803 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | C9orf72 CL E G H | 203228 | 803 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002094 | HP:0033368 | Platypnea | 1 | C9orf72 CL E G H | 203228 | 803 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | CASR CL E G H | 846 | 239200 | Neonatal severe hyperparathyroidism | 239200 | C1832615 | OMIM | 1 | | 2330 | 1514 | 601199 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | CASR CL E G H | 846 | 239200 | Neonatal severe hyperparathyroidism | 239200 | C1832615 | OMIM | 1 | | 2330 | 1514 | 601199 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | CASR CL E G H | 846 | 239200 | Neonatal severe hyperparathyroidism | 239200 | C1832615 | OMIM | 1 | | 2330 | 1514 | 601199 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | CASR CL E G H | 846 | 239200 | Neonatal severe hyperparathyroidism | 239200 | C1832615 | OMIM | 1 | | 2330 | 1514 | 601199 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | CASR CL E G H | 846 | 239200 | Neonatal severe hyperparathyroidism | 239200 | C1832615 | OMIM | 1 | | 2330 | 1514 | 601199 |
HP:0002094 | HP:0033368 | Platypnea | 1 | CASR CL E G H | 846 | 239200 | Neonatal severe hyperparathyroidism | 239200 | C1832615 | OMIM | 1 | | 2330 | 1514 | 601199 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | CAV1 CL E G H | 857 | 220393 | | | | ORPHA | 1 | | 135 | 1527 | 601047 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | CAV1 CL E G H | 857 | 220393 | | | | ORPHA | 1 | | 135 | 1527 | 601047 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | CAV1 CL E G H | 857 | 220393 | | | | ORPHA | 1 | | 135 | 1527 | 601047 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | CAV1 CL E G H | 857 | 220393 | | | | ORPHA | 1 | | 135 | 1527 | 601047 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | CAV1 CL E G H | 857 | 220393 | | | | ORPHA | 1 | | 135 | 1527 | 601047 |
HP:0002094 | HP:0033368 | Platypnea | 1 | CAV1 CL E G H | 857 | 220393 | | | | ORPHA | 1 | | 135 | 1527 | 601047 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | CAV1 CL E G H | 857 | 615343 | Primary pulmonary hypertension 3 | 615343 | C3809192 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | CAV1 CL E G H | 857 | 615343 | Primary pulmonary hypertension 3 | 615343 | C3809192 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | CAV1 CL E G H | 857 | 615343 | Primary pulmonary hypertension 3 | 615343 | C3809192 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | CAV1 CL E G H | 857 | 615343 | Primary pulmonary hypertension 3 | 615343 | C3809192 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | CAV1 CL E G H | 857 | 615343 | Primary pulmonary hypertension 3 | 615343 | C3809192 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0002094 | HP:0033368 | Platypnea | 1 | CAV1 CL E G H | 857 | 615343 | Primary pulmonary hypertension 3 | 615343 | C3809192 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | CCN2 CL E G H | 1490 | 220393 | | | | ORPHA | 1 | | 32 | 2500 | 121009 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | CCN2 CL E G H | 1490 | 220393 | | | | ORPHA | 1 | | 32 | 2500 | 121009 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | CCN2 CL E G H | 1490 | 220393 | | | | ORPHA | 1 | | 32 | 2500 | 121009 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | CCN2 CL E G H | 1490 | 220393 | | | | ORPHA | 1 | | 32 | 2500 | 121009 |
HP:0002094 | HP:0033368 | Platypnea | 1 | CCN2 CL E G H | 1490 | 220393 | | | | ORPHA | 1 | | 32 | 2500 | 121009 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | CCN2 CL E G H | 1490 | 220393 | | | | ORPHA | 1 | | 32 | 2500 | 121009 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | CCNF CL E G H | 899 | 803 | | | | ORPHA | 1 | | 151 | 1591 | 600227 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | CCNF CL E G H | 899 | 803 | | | | ORPHA | 1 | | 151 | 1591 | 600227 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | CCNF CL E G H | 899 | 803 | | | | ORPHA | 1 | | 151 | 1591 | 600227 |
HP:0002094 | HP:0033368 | Platypnea | 1 | CCNF CL E G H | 899 | 803 | | | | ORPHA | 1 | | 151 | 1591 | 600227 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | CCNF CL E G H | 899 | 803 | | | | ORPHA | 1 | | 151 | 1591 | 600227 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | CCNF CL E G H | 899 | 803 | | | | ORPHA | 1 | | 151 | 1591 | 600227 |
HP:0002094 | HP:0033368 | Platypnea | 1 | CCR6 CL E G H | 1235 | 220393 | | | | ORPHA | 1 | | 65 | 1607 | 601835 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | CCR6 CL E G H | 1235 | 220393 | | | | ORPHA | 1 | | 65 | 1607 | 601835 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | CCR6 CL E G H | 1235 | 220393 | | | | ORPHA | 1 | | 65 | 1607 | 601835 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | CCR6 CL E G H | 1235 | 220393 | | | | ORPHA | 1 | | 65 | 1607 | 601835 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | CCR6 CL E G H | 1235 | 220393 | | | | ORPHA | 1 | | 65 | 1607 | 601835 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | CCR6 CL E G H | 1235 | 220393 | | | | ORPHA | 1 | | 65 | 1607 | 601835 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | CFAP410 CL E G H | 755 | 803 | | | | ORPHA | 1 | | 459 | 1260 | 603191 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | CFAP410 CL E G H | 755 | 803 | | | | ORPHA | 1 | | 459 | 1260 | 603191 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | CFAP410 CL E G H | 755 | 803 | | | | ORPHA | 1 | | 459 | 1260 | 603191 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | CFAP410 CL E G H | 755 | 803 | | | | ORPHA | 1 | | 459 | 1260 | 603191 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | CFAP410 CL E G H | 755 | 803 | | | | ORPHA | 1 | | 459 | 1260 | 603191 |
HP:0002094 | HP:0033368 | Platypnea | 1 | CFAP410 CL E G H | 755 | 803 | | | | ORPHA | 1 | | 459 | 1260 | 603191 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | CHCHD10 CL E G H | 400916 | 803 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | CHCHD10 CL E G H | 400916 | 803 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | CHCHD10 CL E G H | 400916 | 803 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002094 | HP:0033368 | Platypnea | 1 | CHCHD10 CL E G H | 400916 | 803 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | CHCHD10 CL E G H | 400916 | 803 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | CHCHD10 CL E G H | 400916 | 803 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | CHMP2B CL E G H | 25978 | 803 | | | | ORPHA | 1 | | 160 | 24537 | 609512 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | CHMP2B CL E G H | 25978 | 803 | | | | ORPHA | 1 | | 160 | 24537 | 609512 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | CHMP2B CL E G H | 25978 | 803 | | | | ORPHA | 1 | | 160 | 24537 | 609512 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | CHMP2B CL E G H | 25978 | 803 | | | | ORPHA | 1 | | 160 | 24537 | 609512 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | CHMP2B CL E G H | 25978 | 803 | | | | ORPHA | 1 | | 160 | 24537 | 609512 |
HP:0002094 | HP:0033368 | Platypnea | 1 | CHMP2B CL E G H | 25978 | 803 | | | | ORPHA | 1 | | 160 | 24537 | 609512 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | CRLF1 CL E G H | 9244 | 272430 | Cold-induced sweating syndrome 1 | 272430 | C1848947 | OMIM | 1 | | 148 | 2364 | 604237 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | CRLF1 CL E G H | 9244 | 272430 | Cold-induced sweating syndrome 1 | 272430 | C1848947 | OMIM | 1 | | 148 | 2364 | 604237 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | CRLF1 CL E G H | 9244 | 272430 | Cold-induced sweating syndrome 1 | 272430 | C1848947 | OMIM | 1 | | 148 | 2364 | 604237 |
HP:0002094 | HP:0033368 | Platypnea | 1 | CRLF1 CL E G H | 9244 | 272430 | Cold-induced sweating syndrome 1 | 272430 | C1848947 | OMIM | 1 | | 148 | 2364 | 604237 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | CRLF1 CL E G H | 9244 | 272430 | Cold-induced sweating syndrome 1 | 272430 | C1848947 | OMIM | 1 | | 148 | 2364 | 604237 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | CRLF1 CL E G H | 9244 | 272430 | Cold-induced sweating syndrome 1 | 272430 | C1848947 | OMIM | 1 | | 148 | 2364 | 604237 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | CSF2RB CL E G H | 1439 | 614370 | Surfactant metabolism dysfunction, pulmonary, 5 | 614370 | C3280574 | OMIM | 1 | | 533 | 2436 | 138981 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | CSF2RB CL E G H | 1439 | 614370 | Surfactant metabolism dysfunction, pulmonary, 5 | 614370 | C3280574 | OMIM | 1 | | 533 | 2436 | 138981 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | CSF2RB CL E G H | 1439 | 614370 | Surfactant metabolism dysfunction, pulmonary, 5 | 614370 | C3280574 | OMIM | 1 | | 533 | 2436 | 138981 |
HP:0002094 | HP:0033368 | Platypnea | 1 | CSF2RB CL E G H | 1439 | 614370 | Surfactant metabolism dysfunction, pulmonary, 5 | 614370 | C3280574 | OMIM | 1 | | 533 | 2436 | 138981 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | CSF2RB CL E G H | 1439 | 614370 | Surfactant metabolism dysfunction, pulmonary, 5 | 614370 | C3280574 | OMIM | 1 | | 533 | 2436 | 138981 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | CSF2RB CL E G H | 1439 | 614370 | Surfactant metabolism dysfunction, pulmonary, 5 | 614370 | C3280574 | OMIM | 1 | | 533 | 2436 | 138981 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 1074 | 26193 | 611654 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 1074 | 26193 | 611654 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 1074 | 26193 | 611654 |
HP:0002094 | HP:0033368 | Platypnea | 1 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 1074 | 26193 | 611654 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 1074 | 26193 | 611654 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 1074 | 26193 | 611654 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | DAO CL E G H | 1610 | 803 | | | | ORPHA | 1 | | 65 | 2671 | 124050 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | DAO CL E G H | 1610 | 803 | | | | ORPHA | 1 | | 65 | 2671 | 124050 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | DAO CL E G H | 1610 | 803 | | | | ORPHA | 1 | | 65 | 2671 | 124050 |
HP:0002094 | HP:0033368 | Platypnea | 1 | DAO CL E G H | 1610 | 803 | | | | ORPHA | 1 | | 65 | 2671 | 124050 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | DAO CL E G H | 1610 | 803 | | | | ORPHA | 1 | | 65 | 2671 | 124050 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | DAO CL E G H | 1610 | 803 | | | | ORPHA | 1 | | 65 | 2671 | 124050 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | DCTN1 CL E G H | 1639 | 803 | | | | ORPHA | 1 | | 1084 | 2711 | 601143 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | DCTN1 CL E G H | 1639 | 803 | | | | ORPHA | 1 | | 1084 | 2711 | 601143 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | DCTN1 CL E G H | 1639 | 803 | | | | ORPHA | 1 | | 1084 | 2711 | 601143 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | DCTN1 CL E G H | 1639 | 803 | | | | ORPHA | 1 | | 1084 | 2711 | 601143 |
HP:0002094 | HP:0033368 | Platypnea | 1 | DCTN1 CL E G H | 1639 | 803 | | | | ORPHA | 1 | | 1084 | 2711 | 601143 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | DCTN1 CL E G H | 1639 | 803 | | | | ORPHA | 1 | | 1084 | 2711 | 601143 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | DNASE1L3 CL E G H | 1776 | 36412 | | | | ORPHA | 1 | | 200 | 2959 | 602244 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | DNASE1L3 CL E G H | 1776 | 36412 | | | | ORPHA | 1 | | 200 | 2959 | 602244 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | DNASE1L3 CL E G H | 1776 | 36412 | | | | ORPHA | 1 | | 200 | 2959 | 602244 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | DNASE1L3 CL E G H | 1776 | 36412 | | | | ORPHA | 1 | | 200 | 2959 | 602244 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | DNASE1L3 CL E G H | 1776 | 36412 | | | | ORPHA | 1 | | 200 | 2959 | 602244 |
HP:0002094 | HP:0033368 | Platypnea | 1 | DNASE1L3 CL E G H | 1776 | 36412 | | | | ORPHA | 1 | | 200 | 2959 | 602244 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | DSC2 CL E G H | 1824 | 610476 | Arrhythmogenic right ventricular cardiomyopathy, type 11 | 610476 | C1864850 | OMIM | 1 | | 1402 | 3036 | 125645 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | DSC2 CL E G H | 1824 | 610476 | Arrhythmogenic right ventricular cardiomyopathy, type 11 | 610476 | C1864850 | OMIM | 1 | | 1402 | 3036 | 125645 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | DSC2 CL E G H | 1824 | 610476 | Arrhythmogenic right ventricular cardiomyopathy, type 11 | 610476 | C1864850 | OMIM | 1 | | 1402 | 3036 | 125645 |
HP:0002094 | HP:0033368 | Platypnea | 1 | DSC2 CL E G H | 1824 | 610476 | Arrhythmogenic right ventricular cardiomyopathy, type 11 | 610476 | C1864850 | OMIM | 1 | | 1402 | 3036 | 125645 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | DSC2 CL E G H | 1824 | 610476 | Arrhythmogenic right ventricular cardiomyopathy, type 11 | 610476 | C1864850 | OMIM | 1 | | 1402 | 3036 | 125645 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | DSC2 CL E G H | 1824 | 610476 | Arrhythmogenic right ventricular cardiomyopathy, type 11 | 610476 | C1864850 | OMIM | 1 | | 1402 | 3036 | 125645 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | EIF2AK4 CL E G H | 440275 | 234810 | Familial pulmonary capillary hemangiomatosis | 234810 | C0340848 | OMIM | 1 | | 361 | 19687 | 609280 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | EIF2AK4 CL E G H | 440275 | 234810 | Familial pulmonary capillary hemangiomatosis | 234810 | C0340848 | OMIM | 1 | | 361 | 19687 | 609280 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | EIF2AK4 CL E G H | 440275 | 234810 | Familial pulmonary capillary hemangiomatosis | 234810 | C0340848 | OMIM | 1 | | 361 | 19687 | 609280 |
HP:0002094 | HP:0033368 | Platypnea | 1 | EIF2AK4 CL E G H | 440275 | 234810 | Familial pulmonary capillary hemangiomatosis | 234810 | C0340848 | OMIM | 1 | | 361 | 19687 | 609280 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | EIF2AK4 CL E G H | 440275 | 234810 | Familial pulmonary capillary hemangiomatosis | 234810 | C0340848 | OMIM | 1 | | 361 | 19687 | 609280 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | EIF2AK4 CL E G H | 440275 | 234810 | Familial pulmonary capillary hemangiomatosis | 234810 | C0340848 | OMIM | 1 | | 361 | 19687 | 609280 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | ENG CL E G H | 2022 | 187300 | Osler hemorrhagic telangiectasia syndrome | 187300 | C0039445 | OMIM | 1 | | 1413 | 3349 | 131195 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | ENG CL E G H | 2022 | 187300 | Osler hemorrhagic telangiectasia syndrome | 187300 | C0039445 | OMIM | 1 | | 1413 | 3349 | 131195 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | ENG CL E G H | 2022 | 187300 | Osler hemorrhagic telangiectasia syndrome | 187300 | C0039445 | OMIM | 1 | | 1413 | 3349 | 131195 |
HP:0002094 | HP:0033368 | Platypnea | 1 | ENG CL E G H | 2022 | 187300 | Osler hemorrhagic telangiectasia syndrome | 187300 | C0039445 | OMIM | 1 | | 1413 | 3349 | 131195 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | ENG CL E G H | 2022 | 187300 | Osler hemorrhagic telangiectasia syndrome | 187300 | C0039445 | OMIM | 1 | | 1413 | 3349 | 131195 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | ENG CL E G H | 2022 | 187300 | Osler hemorrhagic telangiectasia syndrome | 187300 | C0039445 | OMIM | 1 | | 1413 | 3349 | 131195 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | EPHA4 CL E G H | 2043 | 803 | | | | ORPHA | 1 | | 193 | 3388 | 602188 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | EPHA4 CL E G H | 2043 | 803 | | | | ORPHA | 1 | | 193 | 3388 | 602188 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | EPHA4 CL E G H | 2043 | 803 | | | | ORPHA | 1 | | 193 | 3388 | 602188 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | EPHA4 CL E G H | 2043 | 803 | | | | ORPHA | 1 | | 193 | 3388 | 602188 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | EPHA4 CL E G H | 2043 | 803 | | | | ORPHA | 1 | | 193 | 3388 | 602188 |
HP:0002094 | HP:0033368 | Platypnea | 1 | EPHA4 CL E G H | 2043 | 803 | | | | ORPHA | 1 | | 193 | 3388 | 602188 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | ERBB4 CL E G H | 2066 | 803 | | | | ORPHA | 1 | | 462 | 3432 | 600543 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | ERBB4 CL E G H | 2066 | 803 | | | | ORPHA | 1 | | 462 | 3432 | 600543 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | ERBB4 CL E G H | 2066 | 803 | | | | ORPHA | 1 | | 462 | 3432 | 600543 |
HP:0002094 | HP:0033368 | Platypnea | 1 | ERBB4 CL E G H | 2066 | 803 | | | | ORPHA | 1 | | 462 | 3432 | 600543 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | ERBB4 CL E G H | 2066 | 803 | | | | ORPHA | 1 | | 462 | 3432 | 600543 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | ERBB4 CL E G H | 2066 | 803 | | | | ORPHA | 1 | | 462 | 3432 | 600543 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | FBP1 CL E G H | 2203 | 229700 | Fructose-biphosphatase deficiency | 229700 | C0016756 | OMIM | 1 | | 212 | 3606 | 611570 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | FBP1 CL E G H | 2203 | 229700 | Fructose-biphosphatase deficiency | 229700 | C0016756 | OMIM | 1 | | 212 | 3606 | 611570 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | FBP1 CL E G H | 2203 | 229700 | Fructose-biphosphatase deficiency | 229700 | C0016756 | OMIM | 1 | | 212 | 3606 | 611570 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | FBP1 CL E G H | 2203 | 229700 | Fructose-biphosphatase deficiency | 229700 | C0016756 | OMIM | 1 | | 212 | 3606 | 611570 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | FBP1 CL E G H | 2203 | 229700 | Fructose-biphosphatase deficiency | 229700 | C0016756 | OMIM | 1 | | 212 | 3606 | 611570 |
HP:0002094 | HP:0033368 | Platypnea | 1 | FBP1 CL E G H | 2203 | 229700 | Fructose-biphosphatase deficiency | 229700 | C0016756 | OMIM | 1 | | 212 | 3606 | 611570 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | FIG4 CL E G H | 9896 | 803 | | | | ORPHA | 1 | | 926 | 16873 | 609390 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | FIG4 CL E G H | 9896 | 803 | | | | ORPHA | 1 | | 926 | 16873 | 609390 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | FIG4 CL E G H | 9896 | 803 | | | | ORPHA | 1 | | 926 | 16873 | 609390 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | FIG4 CL E G H | 9896 | 803 | | | | ORPHA | 1 | | 926 | 16873 | 609390 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | FIG4 CL E G H | 9896 | 803 | | | | ORPHA | 1 | | 926 | 16873 | 609390 |
HP:0002094 | HP:0033368 | Platypnea | 1 | FIG4 CL E G H | 9896 | 803 | | | | ORPHA | 1 | | 926 | 16873 | 609390 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | FLNC CL E G H | 2318 | 617047 | Cardiomyopathy, familial hypertrophic, 26 | 617047 | C4310749 | OMIM | 1 | | 4208 | 3756 | 102565 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | FLNC CL E G H | 2318 | 617047 | Cardiomyopathy, familial hypertrophic, 26 | 617047 | C4310749 | OMIM | 1 | | 4208 | 3756 | 102565 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | FLNC CL E G H | 2318 | 617047 | Cardiomyopathy, familial hypertrophic, 26 | 617047 | C4310749 | OMIM | 1 | | 4208 | 3756 | 102565 |
HP:0002094 | HP:0033368 | Platypnea | 1 | FLNC CL E G H | 2318 | 617047 | Cardiomyopathy, familial hypertrophic, 26 | 617047 | C4310749 | OMIM | 1 | | 4208 | 3756 | 102565 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | FLNC CL E G H | 2318 | 617047 | Cardiomyopathy, familial hypertrophic, 26 | 617047 | C4310749 | OMIM | 1 | | 4208 | 3756 | 102565 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | FLNC CL E G H | 2318 | 617047 | Cardiomyopathy, familial hypertrophic, 26 | 617047 | C4310749 | OMIM | 1 | | 4208 | 3756 | 102565 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | FUS CL E G H | 2521 | 803 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | FUS CL E G H | 2521 | 803 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | FUS CL E G H | 2521 | 803 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002094 | HP:0033368 | Platypnea | 1 | FUS CL E G H | 2521 | 803 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | FUS CL E G H | 2521 | 803 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | FUS CL E G H | 2521 | 803 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | GAA CL E G H | 2548 | 232300 | Glycogen storage disease, type II | 232300 | C0017921 | OMIM | 1 | | 2442 | 4065 | 606800 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | GAA CL E G H | 2548 | 232300 | Glycogen storage disease, type II | 232300 | C0017921 | OMIM | 1 | | 2442 | 4065 | 606800 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | GAA CL E G H | 2548 | 232300 | Glycogen storage disease, type II | 232300 | C0017921 | OMIM | 1 | | 2442 | 4065 | 606800 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | GAA CL E G H | 2548 | 232300 | Glycogen storage disease, type II | 232300 | C0017921 | OMIM | 1 | | 2442 | 4065 | 606800 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | GAA CL E G H | 2548 | 232300 | Glycogen storage disease, type II | 232300 | C0017921 | OMIM | 1 | | 2442 | 4065 | 606800 |
HP:0002094 | HP:0033368 | Platypnea | 1 | GAA CL E G H | 2548 | 232300 | Glycogen storage disease, type II | 232300 | C0017921 | OMIM | 1 | | 2442 | 4065 | 606800 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | GBA CL E G H | 2629 | 230800 | Gaucher's disease, type 1 | 230800 | C1961835 | OMIM | 1 | | | 4177 | 606463 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | GBA CL E G H | 2629 | 230800 | Gaucher's disease, type 1 | 230800 | C1961835 | OMIM | 1 | | | 4177 | 606463 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | GBA CL E G H | 2629 | 230800 | Gaucher's disease, type 1 | 230800 | C1961835 | OMIM | 1 | | | 4177 | 606463 |
HP:0002094 | HP:0033368 | Platypnea | 1 | GBA CL E G H | 2629 | 230800 | Gaucher's disease, type 1 | 230800 | C1961835 | OMIM | 1 | | | 4177 | 606463 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | GBA CL E G H | 2629 | 230800 | Gaucher's disease, type 1 | 230800 | C1961835 | OMIM | 1 | | | 4177 | 606463 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | GBA CL E G H | 2629 | 230800 | Gaucher's disease, type 1 | 230800 | C1961835 | OMIM | 1 | | | 4177 | 606463 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | GLE1 CL E G H | 2733 | 803 | | | | ORPHA | 1 | | 475 | 4315 | 603371 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | GLE1 CL E G H | 2733 | 803 | | | | ORPHA | 1 | | 475 | 4315 | 603371 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | GLE1 CL E G H | 2733 | 803 | | | | ORPHA | 1 | | 475 | 4315 | 603371 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | GLE1 CL E G H | 2733 | 803 | | | | ORPHA | 1 | | 475 | 4315 | 603371 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | GLE1 CL E G H | 2733 | 803 | | | | ORPHA | 1 | | 475 | 4315 | 603371 |
HP:0002094 | HP:0033368 | Platypnea | 1 | GLE1 CL E G H | 2733 | 803 | | | | ORPHA | 1 | | 475 | 4315 | 603371 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 1 | | 1600 | 4827 | 141900 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 1 | | 1600 | 4827 | 141900 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 1 | | 1600 | 4827 | 141900 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 1 | | 1600 | 4827 | 141900 |
HP:0002094 | HP:0033368 | Platypnea | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 1 | | 1600 | 4827 | 141900 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 1 | | 1600 | 4827 | 141900 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | HLA-DRB1 CL E G H | 3123 | 220393 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | HLA-DRB1 CL E G H | 3123 | 797 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | HLA-DRB1 CL E G H | 3123 | 220393 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | HLA-DRB1 CL E G H | 3123 | 220393 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | HLA-DRB1 CL E G H | 3123 | 220393 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | HLA-DRB1 CL E G H | 3123 | 797 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0002094 | HP:0033368 | Platypnea | 1 | HLA-DRB1 CL E G H | 3123 | 220393 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | HLA-DRB1 CL E G H | 3123 | 797 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | HLA-DRB1 CL E G H | 3123 | 797 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | HLA-DRB1 CL E G H | 3123 | 797 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | HLA-DRB1 CL E G H | 3123 | 220393 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0002094 | HP:0033368 | Platypnea | 1 | HLA-DRB1 CL E G H | 3123 | 797 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | HNRNPA1 CL E G H | 3178 | 803 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | HNRNPA1 CL E G H | 3178 | 803 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | HNRNPA1 CL E G H | 3178 | 803 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0002094 | HP:0033368 | Platypnea | 1 | HNRNPA1 CL E G H | 3178 | 803 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | HNRNPA1 CL E G H | 3178 | 803 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | HNRNPA1 CL E G H | 3178 | 803 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0002094 | HP:0033368 | Platypnea | 1 | IRF5 CL E G H | 3663 | 220393 | | | | ORPHA | 1 | | 65 | 6120 | 607218 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | IRF5 CL E G H | 3663 | 220393 | | | | ORPHA | 1 | | 65 | 6120 | 607218 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | IRF5 CL E G H | 3663 | 220393 | | | | ORPHA | 1 | | 65 | 6120 | 607218 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | IRF5 CL E G H | 3663 | 220393 | | | | ORPHA | 1 | | 65 | 6120 | 607218 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | IRF5 CL E G H | 3663 | 220393 | | | | ORPHA | 1 | | 65 | 6120 | 607218 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | IRF5 CL E G H | 3663 | 220393 | | | | ORPHA | 1 | | 65 | 6120 | 607218 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | ISCU CL E G H | 23479 | 255125 | Myopathy with lactic acidosis, hereditary | 255125 | C1850718 | OMIM | 1 | | 160 | 29882 | 611911 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | ISCU CL E G H | 23479 | 255125 | Myopathy with lactic acidosis, hereditary | 255125 | C1850718 | OMIM | 1 | | 160 | 29882 | 611911 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | ISCU CL E G H | 23479 | 255125 | Myopathy with lactic acidosis, hereditary | 255125 | C1850718 | OMIM | 1 | | 160 | 29882 | 611911 |
HP:0002094 | HP:0033368 | Platypnea | 1 | ISCU CL E G H | 23479 | 255125 | Myopathy with lactic acidosis, hereditary | 255125 | C1850718 | OMIM | 1 | | 160 | 29882 | 611911 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | ISCU CL E G H | 23479 | 255125 | Myopathy with lactic acidosis, hereditary | 255125 | C1850718 | OMIM | 1 | | 160 | 29882 | 611911 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | ISCU CL E G H | 23479 | 255125 | Myopathy with lactic acidosis, hereditary | 255125 | C1850718 | OMIM | 1 | | 160 | 29882 | 611911 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | JPH2 CL E G H | 57158 | 613873 | Familial hypertrophic cardiomyopathy 17 | 613873 | C3151264 | OMIM | 1 | | 770 | 14202 | 605267 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | JPH2 CL E G H | 57158 | 613873 | Familial hypertrophic cardiomyopathy 17 | 613873 | C3151264 | OMIM | 1 | | 770 | 14202 | 605267 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | JPH2 CL E G H | 57158 | 613873 | Familial hypertrophic cardiomyopathy 17 | 613873 | C3151264 | OMIM | 1 | | 770 | 14202 | 605267 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | JPH2 CL E G H | 57158 | 613873 | Familial hypertrophic cardiomyopathy 17 | 613873 | C3151264 | OMIM | 1 | | 770 | 14202 | 605267 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | JPH2 CL E G H | 57158 | 613873 | Familial hypertrophic cardiomyopathy 17 | 613873 | C3151264 | OMIM | 1 | | 770 | 14202 | 605267 |
HP:0002094 | HP:0033368 | Platypnea | 1 | JPH2 CL E G H | 57158 | 613873 | Familial hypertrophic cardiomyopathy 17 | 613873 | C3151264 | OMIM | 1 | | 770 | 14202 | 605267 |
HP:0002094 | HP:0033368 | Platypnea | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 151 | 6267 | 600877 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 151 | 6267 | 600877 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 151 | 6267 | 600877 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 151 | 6267 | 600877 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 151 | 6267 | 600877 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 151 | 6267 | 600877 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | LAMA3 CL E G H | 3909 | 79404 | | | | ORPHA | 1 | | 1379 | 6483 | 600805 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | LAMA3 CL E G H | 3909 | 79404 | | | | ORPHA | 1 | | 1379 | 6483 | 600805 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | LAMA3 CL E G H | 3909 | 79404 | | | | ORPHA | 1 | | 1379 | 6483 | 600805 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | LAMA3 CL E G H | 3909 | 79404 | | | | ORPHA | 1 | | 1379 | 6483 | 600805 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | LAMA3 CL E G H | 3909 | 79404 | | | | ORPHA | 1 | | 1379 | 6483 | 600805 |
HP:0002094 | HP:0033368 | Platypnea | 1 | LAMA3 CL E G H | 3909 | 79404 | | | | ORPHA | 1 | | 1379 | 6483 | 600805 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | LAMB3 CL E G H | 3914 | 79404 | | | | ORPHA | 1 | | 1020 | 6490 | 150310 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | LAMB3 CL E G H | 3914 | 79404 | | | | ORPHA | 1 | | 1020 | 6490 | 150310 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | LAMB3 CL E G H | 3914 | 79404 | | | | ORPHA | 1 | | 1020 | 6490 | 150310 |
HP:0002094 | HP:0033368 | Platypnea | 1 | LAMB3 CL E G H | 3914 | 79404 | | | | ORPHA | 1 | | 1020 | 6490 | 150310 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | LAMB3 CL E G H | 3914 | 79404 | | | | ORPHA | 1 | | 1020 | 6490 | 150310 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | LAMB3 CL E G H | 3914 | 79404 | | | | ORPHA | 1 | | 1020 | 6490 | 150310 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | LAMC2 CL E G H | 3918 | 79404 | | | | ORPHA | 1 | | 909 | 6493 | 150292 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | LAMC2 CL E G H | 3918 | 79404 | | | | ORPHA | 1 | | 909 | 6493 | 150292 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | LAMC2 CL E G H | 3918 | 79404 | | | | ORPHA | 1 | | 909 | 6493 | 150292 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | LAMC2 CL E G H | 3918 | 79404 | | | | ORPHA | 1 | | 909 | 6493 | 150292 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | LAMC2 CL E G H | 3918 | 79404 | | | | ORPHA | 1 | | 909 | 6493 | 150292 |
HP:0002094 | HP:0033368 | Platypnea | 1 | LAMC2 CL E G H | 3918 | 79404 | | | | ORPHA | 1 | | 909 | 6493 | 150292 |
HP:0002094 | HP:0033368 | Platypnea | 1 | LDLR CL E G H | 3949 | 391665 | | | | ORPHA | 1 | | 3819 | 6547 | 606945 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | LDLR CL E G H | 3949 | 391665 | | | | ORPHA | 1 | | 3819 | 6547 | 606945 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | LDLR CL E G H | 3949 | 391665 | | | | ORPHA | 1 | | 3819 | 6547 | 606945 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | LDLR CL E G H | 3949 | 391665 | | | | ORPHA | 1 | | 3819 | 6547 | 606945 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | LDLR CL E G H | 3949 | 391665 | | | | ORPHA | 1 | | 3819 | 6547 | 606945 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | LDLR CL E G H | 3949 | 391665 | | | | ORPHA | 1 | | 3819 | 6547 | 606945 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | LDLRAP1 CL E G H | 26119 | 391665 | | | | ORPHA | 1 | | 436 | 18640 | 605747 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | LDLRAP1 CL E G H | 26119 | 391665 | | | | ORPHA | 1 | | 436 | 18640 | 605747 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | LDLRAP1 CL E G H | 26119 | 391665 | | | | ORPHA | 1 | | 436 | 18640 | 605747 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | LDLRAP1 CL E G H | 26119 | 391665 | | | | ORPHA | 1 | | 436 | 18640 | 605747 |
HP:0002094 | HP:0033368 | Platypnea | 1 | LDLRAP1 CL E G H | 26119 | 391665 | | | | ORPHA | 1 | | 436 | 18640 | 605747 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | LDLRAP1 CL E G H | 26119 | 391665 | | | | ORPHA | 1 | | 436 | 18640 | 605747 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0002094 | HP:0033368 | Platypnea | 1 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | MATR3 CL E G H | 9782 | 803 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | MATR3 CL E G H | 9782 | 803 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | MATR3 CL E G H | 9782 | 803 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | MATR3 CL E G H | 9782 | 803 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | MATR3 CL E G H | 9782 | 803 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0002094 | HP:0033368 | Platypnea | 1 | MATR3 CL E G H | 9782 | 803 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0002094 | HP:0033368 | Platypnea | 1 | MGME1 CL E G H | 92667 | 352447 | | | | ORPHA | 1 | | 157 | 16205 | 615076 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | MGME1 CL E G H | 92667 | 352447 | | | | ORPHA | 1 | | 157 | 16205 | 615076 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | MGME1 CL E G H | 92667 | 352447 | | | | ORPHA | 1 | | 157 | 16205 | 615076 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | MGME1 CL E G H | 92667 | 352447 | | | | ORPHA | 1 | | 157 | 16205 | 615076 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | MGME1 CL E G H | 92667 | 352447 | | | | ORPHA | 1 | | 157 | 16205 | 615076 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | MGME1 CL E G H | 92667 | 352447 | | | | ORPHA | 1 | | 157 | 16205 | 615076 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 157 | 16205 | 615076 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 157 | 16205 | 615076 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 157 | 16205 | 615076 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 157 | 16205 | 615076 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 157 | 16205 | 615076 |
HP:0002094 | HP:0033368 | Platypnea | 1 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 157 | 16205 | 615076 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | MRPL3 CL E G H | 11222 | 614582 | Combined oxidative phosphorylation deficiency 9 | 614582 | C3281234 | OMIM | 1 | | 109 | 10379 | 607118 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | MRPL3 CL E G H | 11222 | 614582 | Combined oxidative phosphorylation deficiency 9 | 614582 | C3281234 | OMIM | 1 | | 109 | 10379 | 607118 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | MRPL3 CL E G H | 11222 | 614582 | Combined oxidative phosphorylation deficiency 9 | 614582 | C3281234 | OMIM | 1 | | 109 | 10379 | 607118 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | MRPL3 CL E G H | 11222 | 614582 | Combined oxidative phosphorylation deficiency 9 | 614582 | C3281234 | OMIM | 1 | | 109 | 10379 | 607118 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | MRPL3 CL E G H | 11222 | 614582 | Combined oxidative phosphorylation deficiency 9 | 614582 | C3281234 | OMIM | 1 | | 109 | 10379 | 607118 |
HP:0002094 | HP:0033368 | Platypnea | 1 | MRPL3 CL E G H | 11222 | 614582 | Combined oxidative phosphorylation deficiency 9 | 614582 | C3281234 | OMIM | 1 | | 109 | 10379 | 607118 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0002094 | HP:0033368 | Platypnea | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | MYL2 CL E G H | 4633 | 608758 | Familial hypertrophic cardiomyopathy 10 | 608758 | C1834460 | OMIM | 1 | | 496 | 7583 | 160781 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | MYL2 CL E G H | 4633 | 608758 | Familial hypertrophic cardiomyopathy 10 | 608758 | C1834460 | OMIM | 1 | | 496 | 7583 | 160781 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | MYL2 CL E G H | 4633 | 608758 | Familial hypertrophic cardiomyopathy 10 | 608758 | C1834460 | OMIM | 1 | | 496 | 7583 | 160781 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | MYL2 CL E G H | 4633 | 608758 | Familial hypertrophic cardiomyopathy 10 | 608758 | C1834460 | OMIM | 1 | | 496 | 7583 | 160781 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | MYL2 CL E G H | 4633 | 608758 | Familial hypertrophic cardiomyopathy 10 | 608758 | C1834460 | OMIM | 1 | | 496 | 7583 | 160781 |
HP:0002094 | HP:0033368 | Platypnea | 1 | MYL2 CL E G H | 4633 | 608758 | Familial hypertrophic cardiomyopathy 10 | 608758 | C1834460 | OMIM | 1 | | 496 | 7583 | 160781 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | NEFH CL E G H | 4744 | 803 | | | | ORPHA | 1 | | 714 | 7737 | 162230 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | NEFH CL E G H | 4744 | 803 | | | | ORPHA | 1 | | 714 | 7737 | 162230 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | NEFH CL E G H | 4744 | 803 | | | | ORPHA | 1 | | 714 | 7737 | 162230 |
HP:0002094 | HP:0033368 | Platypnea | 1 | NEFH CL E G H | 4744 | 803 | | | | ORPHA | 1 | | 714 | 7737 | 162230 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | NEFH CL E G H | 4744 | 803 | | | | ORPHA | 1 | | 714 | 7737 | 162230 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | NEFH CL E G H | 4744 | 803 | | | | ORPHA | 1 | | 714 | 7737 | 162230 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | NEK1 CL E G H | 4750 | 803 | | | | ORPHA | 1 | | 679 | 7744 | 604588 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | NEK1 CL E G H | 4750 | 803 | | | | ORPHA | 1 | | 679 | 7744 | 604588 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | NEK1 CL E G H | 4750 | 803 | | | | ORPHA | 1 | | 679 | 7744 | 604588 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | NEK1 CL E G H | 4750 | 803 | | | | ORPHA | 1 | | 679 | 7744 | 604588 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | NEK1 CL E G H | 4750 | 803 | | | | ORPHA | 1 | | 679 | 7744 | 604588 |
HP:0002094 | HP:0033368 | Platypnea | 1 | NEK1 CL E G H | 4750 | 803 | | | | ORPHA | 1 | | 679 | 7744 | 604588 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | NPPA CL E G H | 4878 | 615745 | Atrial standstill 2 | 615745 | C3810401 | OMIM | 1 | | 182 | 7939 | 108780 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | NPPA CL E G H | 4878 | 615745 | Atrial standstill 2 | 615745 | C3810401 | OMIM | 1 | | 182 | 7939 | 108780 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | NPPA CL E G H | 4878 | 615745 | Atrial standstill 2 | 615745 | C3810401 | OMIM | 1 | | 182 | 7939 | 108780 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | NPPA CL E G H | 4878 | 615745 | Atrial standstill 2 | 615745 | C3810401 | OMIM | 1 | | 182 | 7939 | 108780 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | NPPA CL E G H | 4878 | 615745 | Atrial standstill 2 | 615745 | C3810401 | OMIM | 1 | | 182 | 7939 | 108780 |
HP:0002094 | HP:0033368 | Platypnea | 1 | NPPA CL E G H | 4878 | 615745 | Atrial standstill 2 | 615745 | C3810401 | OMIM | 1 | | 182 | 7939 | 108780 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | OPTN CL E G H | 10133 | 803 | | | | ORPHA | 1 | | 428 | 17142 | 602432 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | OPTN CL E G H | 10133 | 803 | | | | ORPHA | 1 | | 428 | 17142 | 602432 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | OPTN CL E G H | 10133 | 803 | | | | ORPHA | 1 | | 428 | 17142 | 602432 |
HP:0002094 | HP:0033368 | Platypnea | 1 | OPTN CL E G H | 10133 | 803 | | | | ORPHA | 1 | | 428 | 17142 | 602432 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | OPTN CL E G H | 10133 | 803 | | | | ORPHA | 1 | | 428 | 17142 | 602432 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | OPTN CL E G H | 10133 | 803 | | | | ORPHA | 1 | | 428 | 17142 | 602432 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | ORC6 CL E G H | 23594 | 613803 | Meier-Gorlin syndrome 3 | 613803 | C3151113 | OMIM | 1 | | 164 | 17151 | 607213 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | ORC6 CL E G H | 23594 | 613803 | Meier-Gorlin syndrome 3 | 613803 | C3151113 | OMIM | 1 | | 164 | 17151 | 607213 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | ORC6 CL E G H | 23594 | 613803 | Meier-Gorlin syndrome 3 | 613803 | C3151113 | OMIM | 1 | | 164 | 17151 | 607213 |
HP:0002094 | HP:0033368 | Platypnea | 1 | ORC6 CL E G H | 23594 | 613803 | Meier-Gorlin syndrome 3 | 613803 | C3151113 | OMIM | 1 | | 164 | 17151 | 607213 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | ORC6 CL E G H | 23594 | 613803 | Meier-Gorlin syndrome 3 | 613803 | C3151113 | OMIM | 1 | | 164 | 17151 | 607213 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | ORC6 CL E G H | 23594 | 613803 | Meier-Gorlin syndrome 3 | 613803 | C3151113 | OMIM | 1 | | 164 | 17151 | 607213 |
HP:0002094 | HP:0033368 | Platypnea | 1 | PCSK9 CL E G H | 255738 | 391665 | | | | ORPHA | 1 | | 1000 | 20001 | 607786 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | PCSK9 CL E G H | 255738 | 391665 | | | | ORPHA | 1 | | 1000 | 20001 | 607786 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | PCSK9 CL E G H | 255738 | 391665 | | | | ORPHA | 1 | | 1000 | 20001 | 607786 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | PCSK9 CL E G H | 255738 | 391665 | | | | ORPHA | 1 | | 1000 | 20001 | 607786 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | PCSK9 CL E G H | 255738 | 391665 | | | | ORPHA | 1 | | 1000 | 20001 | 607786 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | PCSK9 CL E G H | 255738 | 391665 | | | | ORPHA | 1 | | 1000 | 20001 | 607786 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | PFN1 CL E G H | 5216 | 803 | | | | ORPHA | 1 | | 101 | 8881 | 176610 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | PFN1 CL E G H | 5216 | 803 | | | | ORPHA | 1 | | 101 | 8881 | 176610 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | PFN1 CL E G H | 5216 | 803 | | | | ORPHA | 1 | | 101 | 8881 | 176610 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | PFN1 CL E G H | 5216 | 803 | | | | ORPHA | 1 | | 101 | 8881 | 176610 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | PFN1 CL E G H | 5216 | 803 | | | | ORPHA | 1 | | 101 | 8881 | 176610 |
HP:0002094 | HP:0033368 | Platypnea | 1 | PFN1 CL E G H | 5216 | 803 | | | | ORPHA | 1 | | 101 | 8881 | 176610 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | PIGT CL E G H | 51604 | 615399 | Paroxysmal nocturnal hemoglobinuria 2 | 615399 | C3809369 | OMIM | 1 | | 277 | 14938 | 610272 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | PIGT CL E G H | 51604 | 615399 | Paroxysmal nocturnal hemoglobinuria 2 | 615399 | C3809369 | OMIM | 1 | | 277 | 14938 | 610272 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | PIGT CL E G H | 51604 | 615399 | Paroxysmal nocturnal hemoglobinuria 2 | 615399 | C3809369 | OMIM | 1 | | 277 | 14938 | 610272 |
HP:0002094 | HP:0033368 | Platypnea | 1 | PIGT CL E G H | 51604 | 615399 | Paroxysmal nocturnal hemoglobinuria 2 | 615399 | C3809369 | OMIM | 1 | | 277 | 14938 | 610272 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | PIGT CL E G H | 51604 | 615399 | Paroxysmal nocturnal hemoglobinuria 2 | 615399 | C3809369 | OMIM | 1 | | 277 | 14938 | 610272 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | PIGT CL E G H | 51604 | 615399 | Paroxysmal nocturnal hemoglobinuria 2 | 615399 | C3809369 | OMIM | 1 | | 277 | 14938 | 610272 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | PON1 CL E G H | 5444 | 803 | | | | ORPHA | 1 | | 65 | 9204 | 168820 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | PON1 CL E G H | 5444 | 803 | | | | ORPHA | 1 | | 65 | 9204 | 168820 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | PON1 CL E G H | 5444 | 803 | | | | ORPHA | 1 | | 65 | 9204 | 168820 |
HP:0002094 | HP:0033368 | Platypnea | 1 | PON1 CL E G H | 5444 | 803 | | | | ORPHA | 1 | | 65 | 9204 | 168820 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | PON1 CL E G H | 5444 | 803 | | | | ORPHA | 1 | | 65 | 9204 | 168820 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | PON1 CL E G H | 5444 | 803 | | | | ORPHA | 1 | | 65 | 9204 | 168820 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | PON2 CL E G H | 5445 | 803 | | | | ORPHA | 1 | | 68 | 9205 | 602447 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | PON2 CL E G H | 5445 | 803 | | | | ORPHA | 1 | | 68 | 9205 | 602447 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | PON2 CL E G H | 5445 | 803 | | | | ORPHA | 1 | | 68 | 9205 | 602447 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | PON2 CL E G H | 5445 | 803 | | | | ORPHA | 1 | | 68 | 9205 | 602447 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | PON2 CL E G H | 5445 | 803 | | | | ORPHA | 1 | | 68 | 9205 | 602447 |
HP:0002094 | HP:0033368 | Platypnea | 1 | PON2 CL E G H | 5445 | 803 | | | | ORPHA | 1 | | 68 | 9205 | 602447 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | PON3 CL E G H | 5446 | 803 | | | | ORPHA | 1 | | 62 | 9206 | 602720 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | PON3 CL E G H | 5446 | 803 | | | | ORPHA | 1 | | 62 | 9206 | 602720 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | PON3 CL E G H | 5446 | 803 | | | | ORPHA | 1 | | 62 | 9206 | 602720 |
HP:0002094 | HP:0033368 | Platypnea | 1 | PON3 CL E G H | 5446 | 803 | | | | ORPHA | 1 | | 62 | 9206 | 602720 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | PON3 CL E G H | 5446 | 803 | | | | ORPHA | 1 | | 62 | 9206 | 602720 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | PON3 CL E G H | 5446 | 803 | | | | ORPHA | 1 | | 62 | 9206 | 602720 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | PPARGC1A CL E G H | 10891 | 803 | | | | ORPHA | 1 | | 71 | 9237 | 604517 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | PPARGC1A CL E G H | 10891 | 803 | | | | ORPHA | 1 | | 71 | 9237 | 604517 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | PPARGC1A CL E G H | 10891 | 803 | | | | ORPHA | 1 | | 71 | 9237 | 604517 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | PPARGC1A CL E G H | 10891 | 803 | | | | ORPHA | 1 | | 71 | 9237 | 604517 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | PPARGC1A CL E G H | 10891 | 803 | | | | ORPHA | 1 | | 71 | 9237 | 604517 |
HP:0002094 | HP:0033368 | Platypnea | 1 | PPARGC1A CL E G H | 10891 | 803 | | | | ORPHA | 1 | | 71 | 9237 | 604517 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | PRPH CL E G H | 5630 | 803 | | | | ORPHA | 1 | | 76 | 9461 | 170710 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | PRPH CL E G H | 5630 | 803 | | | | ORPHA | 1 | | 76 | 9461 | 170710 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | PRPH CL E G H | 5630 | 803 | | | | ORPHA | 1 | | 76 | 9461 | 170710 |
HP:0002094 | HP:0033368 | Platypnea | 1 | PRPH CL E G H | 5630 | 803 | | | | ORPHA | 1 | | 76 | 9461 | 170710 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | PRPH CL E G H | 5630 | 803 | | | | ORPHA | 1 | | 76 | 9461 | 170710 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | PRPH CL E G H | 5630 | 803 | | | | ORPHA | 1 | | 76 | 9461 | 170710 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 261 | 34016 | 601428 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 261 | 34016 | 601428 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 261 | 34016 | 601428 |
HP:0002094 | HP:0033368 | Platypnea | 1 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 261 | 34016 | 601428 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 261 | 34016 | 601428 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 261 | 34016 | 601428 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | SCN5A CL E G H | 6331 | 113900 | Progressive familial heart block type 1A | 113900 | C1879286 | OMIM | 1 | | 3531 | 10593 | 600163 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | SCN5A CL E G H | 6331 | 113900 | Progressive familial heart block type 1A | 113900 | C1879286 | OMIM | 1 | | 3531 | 10593 | 600163 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | SCN5A CL E G H | 6331 | 113900 | Progressive familial heart block type 1A | 113900 | C1879286 | OMIM | 1 | | 3531 | 10593 | 600163 |
HP:0002094 | HP:0033368 | Platypnea | 1 | SCN5A CL E G H | 6331 | 113900 | Progressive familial heart block type 1A | 113900 | C1879286 | OMIM | 1 | | 3531 | 10593 | 600163 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | SCN5A CL E G H | 6331 | 113900 | Progressive familial heart block type 1A | 113900 | C1879286 | OMIM | 1 | | 3531 | 10593 | 600163 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | SCN5A CL E G H | 6331 | 113900 | Progressive familial heart block type 1A | 113900 | C1879286 | OMIM | 1 | | 3531 | 10593 | 600163 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | SERPINA1 CL E G H | 5265 | 613490 | Alpha-1-antitrypsin deficiency | 613490 | C0221757 | OMIM | 1 | | 423 | 8941 | 107400 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | SERPINA1 CL E G H | 5265 | 613490 | Alpha-1-antitrypsin deficiency | 613490 | C0221757 | OMIM | 1 | | 423 | 8941 | 107400 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | SERPINA1 CL E G H | 5265 | 613490 | Alpha-1-antitrypsin deficiency | 613490 | C0221757 | OMIM | 1 | | 423 | 8941 | 107400 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | SERPINA1 CL E G H | 5265 | 613490 | Alpha-1-antitrypsin deficiency | 613490 | C0221757 | OMIM | 1 | | 423 | 8941 | 107400 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | SERPINA1 CL E G H | 5265 | 613490 | Alpha-1-antitrypsin deficiency | 613490 | C0221757 | OMIM | 1 | | 423 | 8941 | 107400 |
HP:0002094 | HP:0033368 | Platypnea | 1 | SERPINA1 CL E G H | 5265 | 613490 | Alpha-1-antitrypsin deficiency | 613490 | C0221757 | OMIM | 1 | | 423 | 8941 | 107400 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | SFTPB CL E G H | 6439 | 265120 | Surfactant metabolism dysfunction, pulmonary, 1 | 265120 | C1968602 | OMIM | 1 | | 195 | 10801 | 178640 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | SFTPB CL E G H | 6439 | 265120 | Surfactant metabolism dysfunction, pulmonary, 1 | 265120 | C1968602 | OMIM | 1 | | 195 | 10801 | 178640 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | SFTPB CL E G H | 6439 | 265120 | Surfactant metabolism dysfunction, pulmonary, 1 | 265120 | C1968602 | OMIM | 1 | | 195 | 10801 | 178640 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | SFTPB CL E G H | 6439 | 265120 | Surfactant metabolism dysfunction, pulmonary, 1 | 265120 | C1968602 | OMIM | 1 | | 195 | 10801 | 178640 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | SFTPB CL E G H | 6439 | 265120 | Surfactant metabolism dysfunction, pulmonary, 1 | 265120 | C1968602 | OMIM | 1 | | 195 | 10801 | 178640 |
HP:0002094 | HP:0033368 | Platypnea | 1 | SFTPB CL E G H | 6439 | 265120 | Surfactant metabolism dysfunction, pulmonary, 1 | 265120 | C1968602 | OMIM | 1 | | 195 | 10801 | 178640 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0002094 | HP:0033368 | Platypnea | 1 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | SMPD1 CL E G H | 6609 | 607616 | Niemann-Pick disease, type B | 607616 | C0268243 | OMIM | 1 | | 864 | 11120 | 607608 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | SMPD1 CL E G H | 6609 | 607616 | Niemann-Pick disease, type B | 607616 | C0268243 | OMIM | 1 | | 864 | 11120 | 607608 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | SMPD1 CL E G H | 6609 | 607616 | Niemann-Pick disease, type B | 607616 | C0268243 | OMIM | 1 | | 864 | 11120 | 607608 |
HP:0002094 | HP:0033368 | Platypnea | 1 | SMPD1 CL E G H | 6609 | 607616 | Niemann-Pick disease, type B | 607616 | C0268243 | OMIM | 1 | | 864 | 11120 | 607608 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | SMPD1 CL E G H | 6609 | 607616 | Niemann-Pick disease, type B | 607616 | C0268243 | OMIM | 1 | | 864 | 11120 | 607608 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | SMPD1 CL E G H | 6609 | 607616 | Niemann-Pick disease, type B | 607616 | C0268243 | OMIM | 1 | | 864 | 11120 | 607608 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | SOD1 CL E G H | 6647 | 803 | | | | ORPHA | 1 | | 294 | 11179 | 147450 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | SOD1 CL E G H | 6647 | 803 | | | | ORPHA | 1 | | 294 | 11179 | 147450 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | SOD1 CL E G H | 6647 | 803 | | | | ORPHA | 1 | | 294 | 11179 | 147450 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | SOD1 CL E G H | 6647 | 803 | | | | ORPHA | 1 | | 294 | 11179 | 147450 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | SOD1 CL E G H | 6647 | 803 | | | | ORPHA | 1 | | 294 | 11179 | 147450 |
HP:0002094 | HP:0033368 | Platypnea | 1 | SOD1 CL E G H | 6647 | 803 | | | | ORPHA | 1 | | 294 | 11179 | 147450 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | SQSTM1 CL E G H | 8878 | 803 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | SQSTM1 CL E G H | 8878 | 803 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | SQSTM1 CL E G H | 8878 | 803 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002094 | HP:0033368 | Platypnea | 1 | SQSTM1 CL E G H | 8878 | 803 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | SQSTM1 CL E G H | 8878 | 803 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | SQSTM1 CL E G H | 8878 | 803 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | TAF15 CL E G H | 8148 | 803 | | | | ORPHA | 1 | | 125 | 11547 | 601574 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | TAF15 CL E G H | 8148 | 803 | | | | ORPHA | 1 | | 125 | 11547 | 601574 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | TAF15 CL E G H | 8148 | 803 | | | | ORPHA | 1 | | 125 | 11547 | 601574 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | TAF15 CL E G H | 8148 | 803 | | | | ORPHA | 1 | | 125 | 11547 | 601574 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | TAF15 CL E G H | 8148 | 803 | | | | ORPHA | 1 | | 125 | 11547 | 601574 |
HP:0002094 | HP:0033368 | Platypnea | 1 | TAF15 CL E G H | 8148 | 803 | | | | ORPHA | 1 | | 125 | 11547 | 601574 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | TARDBP CL E G H | 23435 | 803 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | TARDBP CL E G H | 23435 | 803 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | TARDBP CL E G H | 23435 | 803 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002094 | HP:0033368 | Platypnea | 1 | TARDBP CL E G H | 23435 | 803 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | TARDBP CL E G H | 23435 | 803 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | TARDBP CL E G H | 23435 | 803 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | TBK1 CL E G H | 29110 | 803 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | TBK1 CL E G H | 29110 | 803 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | TBK1 CL E G H | 29110 | 803 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | TBK1 CL E G H | 29110 | 803 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | TBK1 CL E G H | 29110 | 803 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002094 | HP:0033368 | Platypnea | 1 | TBK1 CL E G H | 29110 | 803 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | TNNC1 CL E G H | 7134 | 613243 | Familial hypertrophic cardiomyopathy 13 | 613243 | C2750472 | OMIM | 1 | | 300 | 11943 | 191040 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | TNNC1 CL E G H | 7134 | 613243 | Familial hypertrophic cardiomyopathy 13 | 613243 | C2750472 | OMIM | 1 | | 300 | 11943 | 191040 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | TNNC1 CL E G H | 7134 | 613243 | Familial hypertrophic cardiomyopathy 13 | 613243 | C2750472 | OMIM | 1 | | 300 | 11943 | 191040 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | TNNC1 CL E G H | 7134 | 613243 | Familial hypertrophic cardiomyopathy 13 | 613243 | C2750472 | OMIM | 1 | | 300 | 11943 | 191040 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | TNNC1 CL E G H | 7134 | 613243 | Familial hypertrophic cardiomyopathy 13 | 613243 | C2750472 | OMIM | 1 | | 300 | 11943 | 191040 |
HP:0002094 | HP:0033368 | Platypnea | 1 | TNNC1 CL E G H | 7134 | 613243 | Familial hypertrophic cardiomyopathy 13 | 613243 | C2750472 | OMIM | 1 | | 300 | 11943 | 191040 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | TREM2 CL E G H | 54209 | 803 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | TREM2 CL E G H | 54209 | 803 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | TREM2 CL E G H | 54209 | 803 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002094 | HP:0033368 | Platypnea | 1 | TREM2 CL E G H | 54209 | 803 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | TREM2 CL E G H | 54209 | 803 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | TREM2 CL E G H | 54209 | 803 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 1 | | 4172 | 12362 | 605284 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 1 | | 4172 | 12362 | 605284 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 1 | | 4172 | 12362 | 605284 |
HP:0002094 | HP:0033368 | Platypnea | 1 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 1 | | 4172 | 12362 | 605284 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 1 | | 4172 | 12362 | 605284 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 1 | | 4172 | 12362 | 605284 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 1 | | 9638 | 12363 | 191092 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 1 | | 9638 | 12363 | 191092 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 1 | | 9638 | 12363 | 191092 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 1 | | 9638 | 12363 | 191092 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 1 | | 9638 | 12363 | 191092 |
HP:0002094 | HP:0033368 | Platypnea | 1 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 1 | | 9638 | 12363 | 191092 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | UBQLN2 CL E G H | 29978 | 803 | | | | ORPHA | 1 | | 273 | 12509 | 300264 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | UBQLN2 CL E G H | 29978 | 803 | | | | ORPHA | 1 | | 273 | 12509 | 300264 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | UBQLN2 CL E G H | 29978 | 803 | | | | ORPHA | 1 | | 273 | 12509 | 300264 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | UBQLN2 CL E G H | 29978 | 803 | | | | ORPHA | 1 | | 273 | 12509 | 300264 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | UBQLN2 CL E G H | 29978 | 803 | | | | ORPHA | 1 | | 273 | 12509 | 300264 |
HP:0002094 | HP:0033368 | Platypnea | 1 | UBQLN2 CL E G H | 29978 | 803 | | | | ORPHA | 1 | | 273 | 12509 | 300264 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | UNC13A CL E G H | 23025 | 803 | | | | ORPHA | 1 | | 140 | 23150 | 609894 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | UNC13A CL E G H | 23025 | 803 | | | | ORPHA | 1 | | 140 | 23150 | 609894 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | UNC13A CL E G H | 23025 | 803 | | | | ORPHA | 1 | | 140 | 23150 | 609894 |
HP:0002094 | HP:0033368 | Platypnea | 1 | UNC13A CL E G H | 23025 | 803 | | | | ORPHA | 1 | | 140 | 23150 | 609894 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | UNC13A CL E G H | 23025 | 803 | | | | ORPHA | 1 | | 140 | 23150 | 609894 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | UNC13A CL E G H | 23025 | 803 | | | | ORPHA | 1 | | 140 | 23150 | 609894 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | VAPB CL E G H | 9217 | 803 | | | | ORPHA | 1 | | 359 | 12649 | 605704 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | VAPB CL E G H | 9217 | 803 | | | | ORPHA | 1 | | 359 | 12649 | 605704 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | VAPB CL E G H | 9217 | 803 | | | | ORPHA | 1 | | 359 | 12649 | 605704 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | VAPB CL E G H | 9217 | 803 | | | | ORPHA | 1 | | 359 | 12649 | 605704 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | VAPB CL E G H | 9217 | 803 | | | | ORPHA | 1 | | 359 | 12649 | 605704 |
HP:0002094 | HP:0033368 | Platypnea | 1 | VAPB CL E G H | 9217 | 803 | | | | ORPHA | 1 | | 359 | 12649 | 605704 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | VCL CL E G H | 7414 | 613255 | Familial hypertrophic cardiomyopathy 15 | 613255 | C2750459 | OMIM | 1 | | 1175 | 12665 | 193065 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | VCL CL E G H | 7414 | 613255 | Familial hypertrophic cardiomyopathy 15 | 613255 | C2750459 | OMIM | 1 | | 1175 | 12665 | 193065 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | VCL CL E G H | 7414 | 613255 | Familial hypertrophic cardiomyopathy 15 | 613255 | C2750459 | OMIM | 1 | | 1175 | 12665 | 193065 |
HP:0002094 | HP:0033368 | Platypnea | 1 | VCL CL E G H | 7414 | 613255 | Familial hypertrophic cardiomyopathy 15 | 613255 | C2750459 | OMIM | 1 | | 1175 | 12665 | 193065 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | VCL CL E G H | 7414 | 613255 | Familial hypertrophic cardiomyopathy 15 | 613255 | C2750459 | OMIM | 1 | | 1175 | 12665 | 193065 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | VCL CL E G H | 7414 | 613255 | Familial hypertrophic cardiomyopathy 15 | 613255 | C2750459 | OMIM | 1 | | 1175 | 12665 | 193065 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | VCP CL E G H | 7415 | 803 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | VCP CL E G H | 7415 | 803 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | VCP CL E G H | 7415 | 803 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002094 | HP:0033368 | Platypnea | 1 | VCP CL E G H | 7415 | 803 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | VCP CL E G H | 7415 | 803 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | VCP CL E G H | 7415 | 803 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 1 | | 603 | 12731 | 300392 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 1 | | 603 | 12731 | 300392 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 1 | | 603 | 12731 | 300392 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 1 | | 603 | 12731 | 300392 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 1 | | 603 | 12731 | 300392 |
HP:0002094 | HP:0033368 | Platypnea | 1 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 1 | | 603 | 12731 | 300392 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 1 | | 279 | 12736 | 602357 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 1 | | 279 | 12736 | 602357 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 1 | | 279 | 12736 | 602357 |
HP:0002094 | HP:0033368 | Platypnea | 1 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 1 | | 279 | 12736 | 602357 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 1 | | 279 | 12736 | 602357 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 1 | | 279 | 12736 | 602357 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | ABCG5 CL E G H | 64240 | 391665 | | | | ORPHA | 1 | | 605 | 13886 | 605459 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | ABCG5 CL E G H | 64240 | 391665 | | | | ORPHA | 1 | | 605 | 13886 | 605459 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | ABCG5 CL E G H | 64240 | 391665 | | | | ORPHA | 1 | | 605 | 13886 | 605459 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | ABCG8 CL E G H | 64241 | 391665 | | | | ORPHA | 1 | | 659 | 13887 | 605460 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | ABCG8 CL E G H | 64241 | 391665 | | | | ORPHA | 1 | | 659 | 13887 | 605460 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | ABCG8 CL E G H | 64241 | 391665 | | | | ORPHA | 1 | | 659 | 13887 | 605460 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | ACVRL1 CL E G H | 94 | 600376 | Hereditary hemorrhagic telangiectasia type 2 | 600376 | C1838163 | OMIM | 1 | | 888 | 175 | 601284 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | ACVRL1 CL E G H | 94 | 600376 | Hereditary hemorrhagic telangiectasia type 2 | 600376 | C1838163 | OMIM | 1 | | 888 | 175 | 601284 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | ACVRL1 CL E G H | 94 | 600376 | Hereditary hemorrhagic telangiectasia type 2 | 600376 | C1838163 | OMIM | 1 | | 888 | 175 | 601284 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | ANG CL E G H | 283 | 803 | | | | ORPHA | 1 | | 114 | 483 | 105850 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | ANG CL E G H | 283 | 803 | | | | ORPHA | 1 | | 114 | 483 | 105850 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | ANG CL E G H | 283 | 803 | | | | ORPHA | 1 | | 114 | 483 | 105850 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | ANXA11 CL E G H | 311 | 803 | | | | ORPHA | 1 | | 305 | 535 | 602572 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | ANXA11 CL E G H | 311 | 803 | | | | ORPHA | 1 | | 305 | 535 | 602572 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | ANXA11 CL E G H | 311 | 803 | | | | ORPHA | 1 | | 305 | 535 | 602572 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | APOB CL E G H | 338 | 391665 | | | | ORPHA | 1 | | 2916 | 603 | 107730 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | APOB CL E G H | 338 | 391665 | | | | ORPHA | 1 | | 2916 | 603 | 107730 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | APOB CL E G H | 338 | 391665 | | | | ORPHA | 1 | | 2916 | 603 | 107730 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | ATRX CL E G H | 546 | 231401 | | | | ORPHA | 1 | | 1925 | 886 | 300032 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | ATRX CL E G H | 546 | 231401 | | | | ORPHA | 1 | | 1925 | 886 | 300032 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | ATRX CL E G H | 546 | 231401 | | | | ORPHA | 1 | | 1925 | 886 | 300032 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | ATXN2 CL E G H | 6311 | 803 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | ATXN2 CL E G H | 6311 | 803 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | ATXN2 CL E G H | 6311 | 803 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | BMPR2 CL E G H | 659 | 178600 | Primary pulmonary hypertension | 178600 | C0152171 | OMIM | 1 | | 1028 | 1078 | 600799 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | BMPR2 CL E G H | 659 | 178600 | Primary pulmonary hypertension | 178600 | C0152171 | OMIM | 1 | | 1028 | 1078 | 600799 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | BMPR2 CL E G H | 659 | 178600 | Primary pulmonary hypertension | 178600 | C0152171 | OMIM | 1 | | 1028 | 1078 | 600799 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | BTNL2 CL E G H | 56244 | 797 | | | | ORPHA | 1 | | 30 | 1142 | 606000 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | BTNL2 CL E G H | 56244 | 797 | | | | ORPHA | 1 | | 30 | 1142 | 606000 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | BTNL2 CL E G H | 56244 | 797 | | | | ORPHA | 1 | | 30 | 1142 | 606000 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | C9orf72 CL E G H | 203228 | 803 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | C9orf72 CL E G H | 203228 | 803 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | C9orf72 CL E G H | 203228 | 803 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | CASR CL E G H | 846 | 239200 | Neonatal severe hyperparathyroidism | 239200 | C1832615 | OMIM | 1 | | 2330 | 1514 | 601199 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | CASR CL E G H | 846 | 239200 | Neonatal severe hyperparathyroidism | 239200 | C1832615 | OMIM | 1 | | 2330 | 1514 | 601199 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | CASR CL E G H | 846 | 239200 | Neonatal severe hyperparathyroidism | 239200 | C1832615 | OMIM | 1 | | 2330 | 1514 | 601199 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | CAV1 CL E G H | 857 | 220393 | | | | ORPHA | 1 | | 135 | 1527 | 601047 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | CAV1 CL E G H | 857 | 220393 | | | | ORPHA | 1 | | 135 | 1527 | 601047 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | CAV1 CL E G H | 857 | 220393 | | | | ORPHA | 1 | | 135 | 1527 | 601047 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | CAV1 CL E G H | 857 | 615343 | Primary pulmonary hypertension 3 | 615343 | C3809192 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | CAV1 CL E G H | 857 | 615343 | Primary pulmonary hypertension 3 | 615343 | C3809192 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | CAV1 CL E G H | 857 | 615343 | Primary pulmonary hypertension 3 | 615343 | C3809192 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | CCN2 CL E G H | 1490 | 220393 | | | | ORPHA | 1 | | 32 | 2500 | 121009 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | CCN2 CL E G H | 1490 | 220393 | | | | ORPHA | 1 | | 32 | 2500 | 121009 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | CCN2 CL E G H | 1490 | 220393 | | | | ORPHA | 1 | | 32 | 2500 | 121009 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | CCNF CL E G H | 899 | 803 | | | | ORPHA | 1 | | 151 | 1591 | 600227 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | CCNF CL E G H | 899 | 803 | | | | ORPHA | 1 | | 151 | 1591 | 600227 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | CCNF CL E G H | 899 | 803 | | | | ORPHA | 1 | | 151 | 1591 | 600227 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | CCR6 CL E G H | 1235 | 220393 | | | | ORPHA | 1 | | 65 | 1607 | 601835 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | CCR6 CL E G H | 1235 | 220393 | | | | ORPHA | 1 | | 65 | 1607 | 601835 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | CCR6 CL E G H | 1235 | 220393 | | | | ORPHA | 1 | | 65 | 1607 | 601835 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | CFAP410 CL E G H | 755 | 803 | | | | ORPHA | 1 | | 459 | 1260 | 603191 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | CFAP410 CL E G H | 755 | 803 | | | | ORPHA | 1 | | 459 | 1260 | 603191 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | CFAP410 CL E G H | 755 | 803 | | | | ORPHA | 1 | | 459 | 1260 | 603191 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | CHCHD10 CL E G H | 400916 | 803 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | CHCHD10 CL E G H | 400916 | 803 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | CHCHD10 CL E G H | 400916 | 803 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | CHMP2B CL E G H | 25978 | 803 | | | | ORPHA | 1 | | 160 | 24537 | 609512 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | CHMP2B CL E G H | 25978 | 803 | | | | ORPHA | 1 | | 160 | 24537 | 609512 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | CHMP2B CL E G H | 25978 | 803 | | | | ORPHA | 1 | | 160 | 24537 | 609512 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | CRLF1 CL E G H | 9244 | 272430 | Cold-induced sweating syndrome 1 | 272430 | C1848947 | OMIM | 1 | | 148 | 2364 | 604237 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | CRLF1 CL E G H | 9244 | 272430 | Cold-induced sweating syndrome 1 | 272430 | C1848947 | OMIM | 1 | | 148 | 2364 | 604237 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | CRLF1 CL E G H | 9244 | 272430 | Cold-induced sweating syndrome 1 | 272430 | C1848947 | OMIM | 1 | | 148 | 2364 | 604237 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | CSF2RB CL E G H | 1439 | 614370 | Surfactant metabolism dysfunction, pulmonary, 5 | 614370 | C3280574 | OMIM | 1 | | 533 | 2436 | 138981 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | CSF2RB CL E G H | 1439 | 614370 | Surfactant metabolism dysfunction, pulmonary, 5 | 614370 | C3280574 | OMIM | 1 | | 533 | 2436 | 138981 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | CSF2RB CL E G H | 1439 | 614370 | Surfactant metabolism dysfunction, pulmonary, 5 | 614370 | C3280574 | OMIM | 1 | | 533 | 2436 | 138981 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 1074 | 26193 | 611654 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 1074 | 26193 | 611654 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 1074 | 26193 | 611654 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | DAO CL E G H | 1610 | 803 | | | | ORPHA | 1 | | 65 | 2671 | 124050 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | DAO CL E G H | 1610 | 803 | | | | ORPHA | 1 | | 65 | 2671 | 124050 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | DAO CL E G H | 1610 | 803 | | | | ORPHA | 1 | | 65 | 2671 | 124050 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | DCTN1 CL E G H | 1639 | 803 | | | | ORPHA | 1 | | 1084 | 2711 | 601143 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | DCTN1 CL E G H | 1639 | 803 | | | | ORPHA | 1 | | 1084 | 2711 | 601143 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | DCTN1 CL E G H | 1639 | 803 | | | | ORPHA | 1 | | 1084 | 2711 | 601143 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | DNASE1L3 CL E G H | 1776 | 36412 | | | | ORPHA | 1 | | 200 | 2959 | 602244 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | DNASE1L3 CL E G H | 1776 | 36412 | | | | ORPHA | 1 | | 200 | 2959 | 602244 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | DNASE1L3 CL E G H | 1776 | 36412 | | | | ORPHA | 1 | | 200 | 2959 | 602244 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | DSC2 CL E G H | 1824 | 610476 | Arrhythmogenic right ventricular cardiomyopathy, type 11 | 610476 | C1864850 | OMIM | 1 | | 1402 | 3036 | 125645 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | DSC2 CL E G H | 1824 | 610476 | Arrhythmogenic right ventricular cardiomyopathy, type 11 | 610476 | C1864850 | OMIM | 1 | | 1402 | 3036 | 125645 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | DSC2 CL E G H | 1824 | 610476 | Arrhythmogenic right ventricular cardiomyopathy, type 11 | 610476 | C1864850 | OMIM | 1 | | 1402 | 3036 | 125645 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | EIF2AK4 CL E G H | 440275 | 234810 | Familial pulmonary capillary hemangiomatosis | 234810 | C0340848 | OMIM | 1 | | 361 | 19687 | 609280 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | EIF2AK4 CL E G H | 440275 | 234810 | Familial pulmonary capillary hemangiomatosis | 234810 | C0340848 | OMIM | 1 | | 361 | 19687 | 609280 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | EIF2AK4 CL E G H | 440275 | 234810 | Familial pulmonary capillary hemangiomatosis | 234810 | C0340848 | OMIM | 1 | | 361 | 19687 | 609280 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | ENG CL E G H | 2022 | 187300 | Osler hemorrhagic telangiectasia syndrome | 187300 | C0039445 | OMIM | 1 | | 1413 | 3349 | 131195 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | ENG CL E G H | 2022 | 187300 | Osler hemorrhagic telangiectasia syndrome | 187300 | C0039445 | OMIM | 1 | | 1413 | 3349 | 131195 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | ENG CL E G H | 2022 | 187300 | Osler hemorrhagic telangiectasia syndrome | 187300 | C0039445 | OMIM | 1 | | 1413 | 3349 | 131195 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | EPHA4 CL E G H | 2043 | 803 | | | | ORPHA | 1 | | 193 | 3388 | 602188 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | EPHA4 CL E G H | 2043 | 803 | | | | ORPHA | 1 | | 193 | 3388 | 602188 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | EPHA4 CL E G H | 2043 | 803 | | | | ORPHA | 1 | | 193 | 3388 | 602188 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | ERBB4 CL E G H | 2066 | 803 | | | | ORPHA | 1 | | 462 | 3432 | 600543 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | ERBB4 CL E G H | 2066 | 803 | | | | ORPHA | 1 | | 462 | 3432 | 600543 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | ERBB4 CL E G H | 2066 | 803 | | | | ORPHA | 1 | | 462 | 3432 | 600543 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | FBP1 CL E G H | 2203 | 229700 | Fructose-biphosphatase deficiency | 229700 | C0016756 | OMIM | 1 | | 212 | 3606 | 611570 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | FBP1 CL E G H | 2203 | 229700 | Fructose-biphosphatase deficiency | 229700 | C0016756 | OMIM | 1 | | 212 | 3606 | 611570 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | FBP1 CL E G H | 2203 | 229700 | Fructose-biphosphatase deficiency | 229700 | C0016756 | OMIM | 1 | | 212 | 3606 | 611570 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | FIG4 CL E G H | 9896 | 803 | | | | ORPHA | 1 | | 926 | 16873 | 609390 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | FIG4 CL E G H | 9896 | 803 | | | | ORPHA | 1 | | 926 | 16873 | 609390 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | FIG4 CL E G H | 9896 | 803 | | | | ORPHA | 1 | | 926 | 16873 | 609390 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | FLNC CL E G H | 2318 | 617047 | Cardiomyopathy, familial hypertrophic, 26 | 617047 | C4310749 | OMIM | 1 | | 4208 | 3756 | 102565 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | FLNC CL E G H | 2318 | 617047 | Cardiomyopathy, familial hypertrophic, 26 | 617047 | C4310749 | OMIM | 1 | | 4208 | 3756 | 102565 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | FLNC CL E G H | 2318 | 617047 | Cardiomyopathy, familial hypertrophic, 26 | 617047 | C4310749 | OMIM | 1 | | 4208 | 3756 | 102565 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | FUS CL E G H | 2521 | 803 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | FUS CL E G H | 2521 | 803 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | FUS CL E G H | 2521 | 803 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | GAA CL E G H | 2548 | 232300 | Glycogen storage disease, type II | 232300 | C0017921 | OMIM | 1 | | 2442 | 4065 | 606800 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | GAA CL E G H | 2548 | 232300 | Glycogen storage disease, type II | 232300 | C0017921 | OMIM | 1 | | 2442 | 4065 | 606800 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | GAA CL E G H | 2548 | 232300 | Glycogen storage disease, type II | 232300 | C0017921 | OMIM | 1 | | 2442 | 4065 | 606800 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | GBA CL E G H | 2629 | 230800 | Gaucher's disease, type 1 | 230800 | C1961835 | OMIM | 1 | | | 4177 | 606463 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | GBA CL E G H | 2629 | 230800 | Gaucher's disease, type 1 | 230800 | C1961835 | OMIM | 1 | | | 4177 | 606463 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | GBA CL E G H | 2629 | 230800 | Gaucher's disease, type 1 | 230800 | C1961835 | OMIM | 1 | | | 4177 | 606463 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | GLE1 CL E G H | 2733 | 803 | | | | ORPHA | 1 | | 475 | 4315 | 603371 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | GLE1 CL E G H | 2733 | 803 | | | | ORPHA | 1 | | 475 | 4315 | 603371 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | GLE1 CL E G H | 2733 | 803 | | | | ORPHA | 1 | | 475 | 4315 | 603371 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 1 | | 1600 | 4827 | 141900 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 1 | | 1600 | 4827 | 141900 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 1 | | 1600 | 4827 | 141900 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | HLA-DRB1 CL E G H | 3123 | 220393 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | HLA-DRB1 CL E G H | 3123 | 797 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | HLA-DRB1 CL E G H | 3123 | 797 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | HLA-DRB1 CL E G H | 3123 | 220393 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | HLA-DRB1 CL E G H | 3123 | 220393 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | HLA-DRB1 CL E G H | 3123 | 797 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | HNRNPA1 CL E G H | 3178 | 803 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | HNRNPA1 CL E G H | 3178 | 803 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | HNRNPA1 CL E G H | 3178 | 803 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | IRF5 CL E G H | 3663 | 220393 | | | | ORPHA | 1 | | 65 | 6120 | 607218 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | IRF5 CL E G H | 3663 | 220393 | | | | ORPHA | 1 | | 65 | 6120 | 607218 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | IRF5 CL E G H | 3663 | 220393 | | | | ORPHA | 1 | | 65 | 6120 | 607218 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | ISCU CL E G H | 23479 | 255125 | Myopathy with lactic acidosis, hereditary | 255125 | C1850718 | OMIM | 1 | | 160 | 29882 | 611911 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | ISCU CL E G H | 23479 | 255125 | Myopathy with lactic acidosis, hereditary | 255125 | C1850718 | OMIM | 1 | | 160 | 29882 | 611911 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | ISCU CL E G H | 23479 | 255125 | Myopathy with lactic acidosis, hereditary | 255125 | C1850718 | OMIM | 1 | | 160 | 29882 | 611911 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | JPH2 CL E G H | 57158 | 613873 | Familial hypertrophic cardiomyopathy 17 | 613873 | C3151264 | OMIM | 1 | | 770 | 14202 | 605267 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | JPH2 CL E G H | 57158 | 613873 | Familial hypertrophic cardiomyopathy 17 | 613873 | C3151264 | OMIM | 1 | | 770 | 14202 | 605267 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | JPH2 CL E G H | 57158 | 613873 | Familial hypertrophic cardiomyopathy 17 | 613873 | C3151264 | OMIM | 1 | | 770 | 14202 | 605267 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 151 | 6267 | 600877 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 151 | 6267 | 600877 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 151 | 6267 | 600877 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | LAMA3 CL E G H | 3909 | 79404 | | | | ORPHA | 1 | | 1379 | 6483 | 600805 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | LAMA3 CL E G H | 3909 | 79404 | | | | ORPHA | 1 | | 1379 | 6483 | 600805 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | LAMA3 CL E G H | 3909 | 79404 | | | | ORPHA | 1 | | 1379 | 6483 | 600805 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | LAMB3 CL E G H | 3914 | 79404 | | | | ORPHA | 1 | | 1020 | 6490 | 150310 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | LAMB3 CL E G H | 3914 | 79404 | | | | ORPHA | 1 | | 1020 | 6490 | 150310 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | LAMB3 CL E G H | 3914 | 79404 | | | | ORPHA | 1 | | 1020 | 6490 | 150310 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | LAMC2 CL E G H | 3918 | 79404 | | | | ORPHA | 1 | | 909 | 6493 | 150292 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | LAMC2 CL E G H | 3918 | 79404 | | | | ORPHA | 1 | | 909 | 6493 | 150292 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | LAMC2 CL E G H | 3918 | 79404 | | | | ORPHA | 1 | | 909 | 6493 | 150292 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | LDLR CL E G H | 3949 | 391665 | | | | ORPHA | 1 | | 3819 | 6547 | 606945 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | LDLR CL E G H | 3949 | 391665 | | | | ORPHA | 1 | | 3819 | 6547 | 606945 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | LDLR CL E G H | 3949 | 391665 | | | | ORPHA | 1 | | 3819 | 6547 | 606945 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | LDLRAP1 CL E G H | 26119 | 391665 | | | | ORPHA | 1 | | 436 | 18640 | 605747 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | LDLRAP1 CL E G H | 26119 | 391665 | | | | ORPHA | 1 | | 436 | 18640 | 605747 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | LDLRAP1 CL E G H | 26119 | 391665 | | | | ORPHA | 1 | | 436 | 18640 | 605747 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | MATR3 CL E G H | 9782 | 803 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | MATR3 CL E G H | 9782 | 803 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | MATR3 CL E G H | 9782 | 803 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | MGME1 CL E G H | 92667 | 352447 | | | | ORPHA | 1 | | 157 | 16205 | 615076 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | MGME1 CL E G H | 92667 | 352447 | | | | ORPHA | 1 | | 157 | 16205 | 615076 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | MGME1 CL E G H | 92667 | 352447 | | | | ORPHA | 1 | | 157 | 16205 | 615076 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 157 | 16205 | 615076 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 157 | 16205 | 615076 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 157 | 16205 | 615076 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | MRPL3 CL E G H | 11222 | 614582 | Combined oxidative phosphorylation deficiency 9 | 614582 | C3281234 | OMIM | 1 | | 109 | 10379 | 607118 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | MRPL3 CL E G H | 11222 | 614582 | Combined oxidative phosphorylation deficiency 9 | 614582 | C3281234 | OMIM | 1 | | 109 | 10379 | 607118 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | MRPL3 CL E G H | 11222 | 614582 | Combined oxidative phosphorylation deficiency 9 | 614582 | C3281234 | OMIM | 1 | | 109 | 10379 | 607118 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | MYL2 CL E G H | 4633 | 608758 | Familial hypertrophic cardiomyopathy 10 | 608758 | C1834460 | OMIM | 1 | | 496 | 7583 | 160781 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | MYL2 CL E G H | 4633 | 608758 | Familial hypertrophic cardiomyopathy 10 | 608758 | C1834460 | OMIM | 1 | | 496 | 7583 | 160781 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | MYL2 CL E G H | 4633 | 608758 | Familial hypertrophic cardiomyopathy 10 | 608758 | C1834460 | OMIM | 1 | | 496 | 7583 | 160781 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | NEFH CL E G H | 4744 | 803 | | | | ORPHA | 1 | | 714 | 7737 | 162230 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | NEFH CL E G H | 4744 | 803 | | | | ORPHA | 1 | | 714 | 7737 | 162230 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | NEFH CL E G H | 4744 | 803 | | | | ORPHA | 1 | | 714 | 7737 | 162230 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | NEK1 CL E G H | 4750 | 803 | | | | ORPHA | 1 | | 679 | 7744 | 604588 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | NEK1 CL E G H | 4750 | 803 | | | | ORPHA | 1 | | 679 | 7744 | 604588 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | NEK1 CL E G H | 4750 | 803 | | | | ORPHA | 1 | | 679 | 7744 | 604588 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | NPPA CL E G H | 4878 | 615745 | Atrial standstill 2 | 615745 | C3810401 | OMIM | 1 | | 182 | 7939 | 108780 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | NPPA CL E G H | 4878 | 615745 | Atrial standstill 2 | 615745 | C3810401 | OMIM | 1 | | 182 | 7939 | 108780 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | NPPA CL E G H | 4878 | 615745 | Atrial standstill 2 | 615745 | C3810401 | OMIM | 1 | | 182 | 7939 | 108780 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | OPTN CL E G H | 10133 | 803 | | | | ORPHA | 1 | | 428 | 17142 | 602432 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | OPTN CL E G H | 10133 | 803 | | | | ORPHA | 1 | | 428 | 17142 | 602432 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | OPTN CL E G H | 10133 | 803 | | | | ORPHA | 1 | | 428 | 17142 | 602432 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | ORC6 CL E G H | 23594 | 613803 | Meier-Gorlin syndrome 3 | 613803 | C3151113 | OMIM | 1 | | 164 | 17151 | 607213 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | ORC6 CL E G H | 23594 | 613803 | Meier-Gorlin syndrome 3 | 613803 | C3151113 | OMIM | 1 | | 164 | 17151 | 607213 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | ORC6 CL E G H | 23594 | 613803 | Meier-Gorlin syndrome 3 | 613803 | C3151113 | OMIM | 1 | | 164 | 17151 | 607213 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | PCSK9 CL E G H | 255738 | 391665 | | | | ORPHA | 1 | | 1000 | 20001 | 607786 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | PCSK9 CL E G H | 255738 | 391665 | | | | ORPHA | 1 | | 1000 | 20001 | 607786 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | PCSK9 CL E G H | 255738 | 391665 | | | | ORPHA | 1 | | 1000 | 20001 | 607786 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | PFN1 CL E G H | 5216 | 803 | | | | ORPHA | 1 | | 101 | 8881 | 176610 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | PFN1 CL E G H | 5216 | 803 | | | | ORPHA | 1 | | 101 | 8881 | 176610 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | PFN1 CL E G H | 5216 | 803 | | | | ORPHA | 1 | | 101 | 8881 | 176610 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | PIGT CL E G H | 51604 | 615399 | Paroxysmal nocturnal hemoglobinuria 2 | 615399 | C3809369 | OMIM | 1 | | 277 | 14938 | 610272 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | PIGT CL E G H | 51604 | 615399 | Paroxysmal nocturnal hemoglobinuria 2 | 615399 | C3809369 | OMIM | 1 | | 277 | 14938 | 610272 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | PIGT CL E G H | 51604 | 615399 | Paroxysmal nocturnal hemoglobinuria 2 | 615399 | C3809369 | OMIM | 1 | | 277 | 14938 | 610272 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | PON1 CL E G H | 5444 | 803 | | | | ORPHA | 1 | | 65 | 9204 | 168820 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | PON1 CL E G H | 5444 | 803 | | | | ORPHA | 1 | | 65 | 9204 | 168820 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | PON1 CL E G H | 5444 | 803 | | | | ORPHA | 1 | | 65 | 9204 | 168820 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | PON2 CL E G H | 5445 | 803 | | | | ORPHA | 1 | | 68 | 9205 | 602447 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | PON2 CL E G H | 5445 | 803 | | | | ORPHA | 1 | | 68 | 9205 | 602447 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | PON2 CL E G H | 5445 | 803 | | | | ORPHA | 1 | | 68 | 9205 | 602447 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | PON3 CL E G H | 5446 | 803 | | | | ORPHA | 1 | | 62 | 9206 | 602720 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | PON3 CL E G H | 5446 | 803 | | | | ORPHA | 1 | | 62 | 9206 | 602720 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | PON3 CL E G H | 5446 | 803 | | | | ORPHA | 1 | | 62 | 9206 | 602720 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | PPARGC1A CL E G H | 10891 | 803 | | | | ORPHA | 1 | | 71 | 9237 | 604517 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | PPARGC1A CL E G H | 10891 | 803 | | | | ORPHA | 1 | | 71 | 9237 | 604517 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | PPARGC1A CL E G H | 10891 | 803 | | | | ORPHA | 1 | | 71 | 9237 | 604517 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | PRPH CL E G H | 5630 | 803 | | | | ORPHA | 1 | | 76 | 9461 | 170710 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | PRPH CL E G H | 5630 | 803 | | | | ORPHA | 1 | | 76 | 9461 | 170710 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | PRPH CL E G H | 5630 | 803 | | | | ORPHA | 1 | | 76 | 9461 | 170710 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 261 | 34016 | 601428 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 261 | 34016 | 601428 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 261 | 34016 | 601428 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | SCN5A CL E G H | 6331 | 113900 | Progressive familial heart block type 1A | 113900 | C1879286 | OMIM | 1 | | 3531 | 10593 | 600163 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | SCN5A CL E G H | 6331 | 113900 | Progressive familial heart block type 1A | 113900 | C1879286 | OMIM | 1 | | 3531 | 10593 | 600163 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | SCN5A CL E G H | 6331 | 113900 | Progressive familial heart block type 1A | 113900 | C1879286 | OMIM | 1 | | 3531 | 10593 | 600163 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | SERPINA1 CL E G H | 5265 | 613490 | Alpha-1-antitrypsin deficiency | 613490 | C0221757 | OMIM | 1 | | 423 | 8941 | 107400 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | SERPINA1 CL E G H | 5265 | 613490 | Alpha-1-antitrypsin deficiency | 613490 | C0221757 | OMIM | 1 | | 423 | 8941 | 107400 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | SERPINA1 CL E G H | 5265 | 613490 | Alpha-1-antitrypsin deficiency | 613490 | C0221757 | OMIM | 1 | | 423 | 8941 | 107400 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | SFTPB CL E G H | 6439 | 265120 | Surfactant metabolism dysfunction, pulmonary, 1 | 265120 | C1968602 | OMIM | 1 | | 195 | 10801 | 178640 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | SFTPB CL E G H | 6439 | 265120 | Surfactant metabolism dysfunction, pulmonary, 1 | 265120 | C1968602 | OMIM | 1 | | 195 | 10801 | 178640 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | SFTPB CL E G H | 6439 | 265120 | Surfactant metabolism dysfunction, pulmonary, 1 | 265120 | C1968602 | OMIM | 1 | | 195 | 10801 | 178640 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | SMPD1 CL E G H | 6609 | 607616 | Niemann-Pick disease, type B | 607616 | C0268243 | OMIM | 1 | | 864 | 11120 | 607608 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | SMPD1 CL E G H | 6609 | 607616 | Niemann-Pick disease, type B | 607616 | C0268243 | OMIM | 1 | | 864 | 11120 | 607608 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | SMPD1 CL E G H | 6609 | 607616 | Niemann-Pick disease, type B | 607616 | C0268243 | OMIM | 1 | | 864 | 11120 | 607608 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | SOD1 CL E G H | 6647 | 803 | | | | ORPHA | 1 | | 294 | 11179 | 147450 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | SOD1 CL E G H | 6647 | 803 | | | | ORPHA | 1 | | 294 | 11179 | 147450 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | SOD1 CL E G H | 6647 | 803 | | | | ORPHA | 1 | | 294 | 11179 | 147450 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | SQSTM1 CL E G H | 8878 | 803 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | SQSTM1 CL E G H | 8878 | 803 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | SQSTM1 CL E G H | 8878 | 803 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | TAF15 CL E G H | 8148 | 803 | | | | ORPHA | 1 | | 125 | 11547 | 601574 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | TAF15 CL E G H | 8148 | 803 | | | | ORPHA | 1 | | 125 | 11547 | 601574 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | TAF15 CL E G H | 8148 | 803 | | | | ORPHA | 1 | | 125 | 11547 | 601574 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | TARDBP CL E G H | 23435 | 803 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | TARDBP CL E G H | 23435 | 803 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | TARDBP CL E G H | 23435 | 803 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | TBK1 CL E G H | 29110 | 803 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | TBK1 CL E G H | 29110 | 803 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | TBK1 CL E G H | 29110 | 803 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | TNNC1 CL E G H | 7134 | 613243 | Familial hypertrophic cardiomyopathy 13 | 613243 | C2750472 | OMIM | 1 | | 300 | 11943 | 191040 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | TNNC1 CL E G H | 7134 | 613243 | Familial hypertrophic cardiomyopathy 13 | 613243 | C2750472 | OMIM | 1 | | 300 | 11943 | 191040 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | TNNC1 CL E G H | 7134 | 613243 | Familial hypertrophic cardiomyopathy 13 | 613243 | C2750472 | OMIM | 1 | | 300 | 11943 | 191040 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | TREM2 CL E G H | 54209 | 803 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | TREM2 CL E G H | 54209 | 803 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | TREM2 CL E G H | 54209 | 803 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 1 | | 4172 | 12362 | 605284 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 1 | | 4172 | 12362 | 605284 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 1 | | 4172 | 12362 | 605284 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 1 | | 9638 | 12363 | 191092 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 1 | | 9638 | 12363 | 191092 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 1 | | 9638 | 12363 | 191092 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | UBQLN2 CL E G H | 29978 | 803 | | | | ORPHA | 1 | | 273 | 12509 | 300264 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | UBQLN2 CL E G H | 29978 | 803 | | | | ORPHA | 1 | | 273 | 12509 | 300264 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | UBQLN2 CL E G H | 29978 | 803 | | | | ORPHA | 1 | | 273 | 12509 | 300264 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | UNC13A CL E G H | 23025 | 803 | | | | ORPHA | 1 | | 140 | 23150 | 609894 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | UNC13A CL E G H | 23025 | 803 | | | | ORPHA | 1 | | 140 | 23150 | 609894 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | UNC13A CL E G H | 23025 | 803 | | | | ORPHA | 1 | | 140 | 23150 | 609894 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | VAPB CL E G H | 9217 | 803 | | | | ORPHA | 1 | | 359 | 12649 | 605704 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | VAPB CL E G H | 9217 | 803 | | | | ORPHA | 1 | | 359 | 12649 | 605704 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | VAPB CL E G H | 9217 | 803 | | | | ORPHA | 1 | | 359 | 12649 | 605704 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | VCL CL E G H | 7414 | 613255 | Familial hypertrophic cardiomyopathy 15 | 613255 | C2750459 | OMIM | 1 | | 1175 | 12665 | 193065 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | VCL CL E G H | 7414 | 613255 | Familial hypertrophic cardiomyopathy 15 | 613255 | C2750459 | OMIM | 1 | | 1175 | 12665 | 193065 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | VCL CL E G H | 7414 | 613255 | Familial hypertrophic cardiomyopathy 15 | 613255 | C2750459 | OMIM | 1 | | 1175 | 12665 | 193065 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | VCP CL E G H | 7415 | 803 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | VCP CL E G H | 7415 | 803 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | VCP CL E G H | 7415 | 803 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 1 | | 603 | 12731 | 300392 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 1 | | 603 | 12731 | 300392 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 1 | | 603 | 12731 | 300392 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 1 | | 279 | 12736 | 602357 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 1 | | 279 | 12736 | 602357 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 1 | | 279 | 12736 | 602357 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002094 | HP:0002094 | Dyspnea | 0 | ALAS2 CL E G H | 212 | 75563 | | | | ORPHA | 0 | | 342 | 397 | 301300 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 0 | | 487 | 14888 | 611332 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 0 | | 1099 | 4296 | 300644 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | GNAS CL E G H | 2778 | 79444 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | GNAS CL E G H | 2778 | 94089 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | GNAS CL E G H | 2778 | 79443 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | HLA-B CL E G H | 3106 | 36426 | | | | ORPHA | 0 | | 29 | 4932 | 142830 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | IKZF1 CL E G H | 10320 | 36426 | | | | ORPHA | 0 | | 200 | 13176 | 603023 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 885 | 5331 | 605956 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | PGM1 CL E G H | 5236 | 614921 | Congenital disorder of glycosylation type 1t | 614921 | C2752015 | OMIM | 0 | | 413 | 8905 | 171900 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | PNKD CL E G H | 25953 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 521 | 9153 | 609023 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | PRRT2 CL E G H | 112476 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 799 | 30500 | 614386 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | SCN4A CL E G H | 6329 | 99735 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | STX16 CL E G H | 8675 | 94089 | | | | ORPHA | 0 | | 209 | 11431 | 603666 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | TBX4 CL E G H | 9496 | 261279 | | | | ORPHA | 0 | | 274 | 11603 | 601719 |
HP:0002094 | HP:0002094 | Dyspnea | 0 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | ALAS2 CL E G H | 212 | 75563 | | | | ORPHA | 0 | | 342 | 397 | 301300 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | ALAS2 CL E G H | 212 | 75563 | | | | ORPHA | 0 | | 342 | 397 | 301300 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | ALAS2 CL E G H | 212 | 75563 | | | | ORPHA | 0 | | 342 | 397 | 301300 |
HP:0002094 | HP:0033368 | Platypnea | 1 | ALAS2 CL E G H | 212 | 75563 | | | | ORPHA | 0 | | 342 | 397 | 301300 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | ALAS2 CL E G H | 212 | 75563 | | | | ORPHA | 0 | | 342 | 397 | 301300 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | ALAS2 CL E G H | 212 | 75563 | | | | ORPHA | 0 | | 342 | 397 | 301300 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 0 | | 487 | 14888 | 611332 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 0 | | 487 | 14888 | 611332 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 0 | | 487 | 14888 | 611332 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 0 | | 487 | 14888 | 611332 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 0 | | 487 | 14888 | 611332 |
HP:0002094 | HP:0033368 | Platypnea | 1 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 0 | | 487 | 14888 | 611332 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 0 | | 1099 | 4296 | 300644 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 0 | | 1099 | 4296 | 300644 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 0 | | 1099 | 4296 | 300644 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 0 | | 1099 | 4296 | 300644 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 0 | | 1099 | 4296 | 300644 |
HP:0002094 | HP:0033368 | Platypnea | 1 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 0 | | 1099 | 4296 | 300644 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | GNAS CL E G H | 2778 | 79443 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | GNAS CL E G H | 2778 | 79443 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | GNAS CL E G H | 2778 | 79443 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | GNAS CL E G H | 2778 | 79444 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | GNAS CL E G H | 2778 | 94089 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0033368 | Platypnea | 1 | GNAS CL E G H | 2778 | 79443 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | GNAS CL E G H | 2778 | 79444 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | GNAS CL E G H | 2778 | 94089 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | GNAS CL E G H | 2778 | 79444 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | GNAS CL E G H | 2778 | 94089 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | GNAS CL E G H | 2778 | 79443 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | GNAS CL E G H | 2778 | 79444 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | GNAS CL E G H | 2778 | 94089 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | GNAS CL E G H | 2778 | 79444 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | GNAS CL E G H | 2778 | 94089 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | GNAS CL E G H | 2778 | 79443 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0033368 | Platypnea | 1 | GNAS CL E G H | 2778 | 79444 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0033368 | Platypnea | 1 | GNAS CL E G H | 2778 | 94089 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | HLA-B CL E G H | 3106 | 36426 | | | | ORPHA | 0 | | 29 | 4932 | 142830 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | HLA-B CL E G H | 3106 | 36426 | | | | ORPHA | 0 | | 29 | 4932 | 142830 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | HLA-B CL E G H | 3106 | 36426 | | | | ORPHA | 0 | | 29 | 4932 | 142830 |
HP:0002094 | HP:0033368 | Platypnea | 1 | HLA-B CL E G H | 3106 | 36426 | | | | ORPHA | 0 | | 29 | 4932 | 142830 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | HLA-B CL E G H | 3106 | 36426 | | | | ORPHA | 0 | | 29 | 4932 | 142830 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | HLA-B CL E G H | 3106 | 36426 | | | | ORPHA | 0 | | 29 | 4932 | 142830 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | IKZF1 CL E G H | 10320 | 36426 | | | | ORPHA | 0 | | 200 | 13176 | 603023 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | IKZF1 CL E G H | 10320 | 36426 | | | | ORPHA | 0 | | 200 | 13176 | 603023 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | IKZF1 CL E G H | 10320 | 36426 | | | | ORPHA | 0 | | 200 | 13176 | 603023 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | IKZF1 CL E G H | 10320 | 36426 | | | | ORPHA | 0 | | 200 | 13176 | 603023 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | IKZF1 CL E G H | 10320 | 36426 | | | | ORPHA | 0 | | 200 | 13176 | 603023 |
HP:0002094 | HP:0033368 | Platypnea | 1 | IKZF1 CL E G H | 10320 | 36426 | | | | ORPHA | 0 | | 200 | 13176 | 603023 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 885 | 5331 | 605956 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 885 | 5331 | 605956 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 885 | 5331 | 605956 |
HP:0002094 | HP:0033368 | Platypnea | 1 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 885 | 5331 | 605956 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 885 | 5331 | 605956 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 885 | 5331 | 605956 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | PGM1 CL E G H | 5236 | 614921 | Congenital disorder of glycosylation type 1t | 614921 | C2752015 | OMIM | 0 | | 413 | 8905 | 171900 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | PGM1 CL E G H | 5236 | 614921 | Congenital disorder of glycosylation type 1t | 614921 | C2752015 | OMIM | 0 | | 413 | 8905 | 171900 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | PGM1 CL E G H | 5236 | 614921 | Congenital disorder of glycosylation type 1t | 614921 | C2752015 | OMIM | 0 | | 413 | 8905 | 171900 |
HP:0002094 | HP:0033368 | Platypnea | 1 | PGM1 CL E G H | 5236 | 614921 | Congenital disorder of glycosylation type 1t | 614921 | C2752015 | OMIM | 0 | | 413 | 8905 | 171900 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | PGM1 CL E G H | 5236 | 614921 | Congenital disorder of glycosylation type 1t | 614921 | C2752015 | OMIM | 0 | | 413 | 8905 | 171900 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | PGM1 CL E G H | 5236 | 614921 | Congenital disorder of glycosylation type 1t | 614921 | C2752015 | OMIM | 0 | | 413 | 8905 | 171900 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | PNKD CL E G H | 25953 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 521 | 9153 | 609023 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | PNKD CL E G H | 25953 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 521 | 9153 | 609023 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | PNKD CL E G H | 25953 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 521 | 9153 | 609023 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | PNKD CL E G H | 25953 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 521 | 9153 | 609023 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | PNKD CL E G H | 25953 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 521 | 9153 | 609023 |
HP:0002094 | HP:0033368 | Platypnea | 1 | PNKD CL E G H | 25953 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 521 | 9153 | 609023 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | PRRT2 CL E G H | 112476 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 799 | 30500 | 614386 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | PRRT2 CL E G H | 112476 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 799 | 30500 | 614386 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | PRRT2 CL E G H | 112476 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 799 | 30500 | 614386 |
HP:0002094 | HP:0033368 | Platypnea | 1 | PRRT2 CL E G H | 112476 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 799 | 30500 | 614386 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | PRRT2 CL E G H | 112476 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 799 | 30500 | 614386 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | PRRT2 CL E G H | 112476 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 799 | 30500 | 614386 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | SCN4A CL E G H | 6329 | 99735 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | SCN4A CL E G H | 6329 | 99735 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | SCN4A CL E G H | 6329 | 99735 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002094 | HP:0033368 | Platypnea | 1 | SCN4A CL E G H | 6329 | 99735 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | SCN4A CL E G H | 6329 | 99735 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002094 | HP:0033368 | Platypnea | 1 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | SCN4A CL E G H | 6329 | 99735 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | STX16 CL E G H | 8675 | 94089 | | | | ORPHA | 0 | | 209 | 11431 | 603666 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | STX16 CL E G H | 8675 | 94089 | | | | ORPHA | 0 | | 209 | 11431 | 603666 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | STX16 CL E G H | 8675 | 94089 | | | | ORPHA | 0 | | 209 | 11431 | 603666 |
HP:0002094 | HP:0033368 | Platypnea | 1 | STX16 CL E G H | 8675 | 94089 | | | | ORPHA | 0 | | 209 | 11431 | 603666 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | STX16 CL E G H | 8675 | 94089 | | | | ORPHA | 0 | | 209 | 11431 | 603666 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | STX16 CL E G H | 8675 | 94089 | | | | ORPHA | 0 | | 209 | 11431 | 603666 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | TBX4 CL E G H | 9496 | 261279 | | | | ORPHA | 0 | | 274 | 11603 | 601719 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | TBX4 CL E G H | 9496 | 261279 | | | | ORPHA | 0 | | 274 | 11603 | 601719 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | TBX4 CL E G H | 9496 | 261279 | | | | ORPHA | 0 | | 274 | 11603 | 601719 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | TBX4 CL E G H | 9496 | 261279 | | | | ORPHA | 0 | | 274 | 11603 | 601719 |
HP:0002094 | HP:0033368 | Platypnea | 1 | TBX4 CL E G H | 9496 | 261279 | | | | ORPHA | 0 | | 274 | 11603 | 601719 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | TBX4 CL E G H | 9496 | 261279 | | | | ORPHA | 0 | | 274 | 11603 | 601719 |
HP:0002094 | HP:0012764 | Orthopnea | 1 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002094 | HP:0002098 | Respiratory distress | 1 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002094 | HP:0033710 | Rest dyspnea | 1 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002094 | HP:0002875 | Exertional dyspnea | 1 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002094 | HP:0033368 | Platypnea | 1 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002094 | HP:0012763 | Paroxysmal dyspnea | 1 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | ALAS2 CL E G H | 212 | 75563 | | | | ORPHA | 0 | | 342 | 397 | 301300 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | ALAS2 CL E G H | 212 | 75563 | | | | ORPHA | 0 | | 342 | 397 | 301300 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | ALAS2 CL E G H | 212 | 75563 | | | | ORPHA | 0 | | 342 | 397 | 301300 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 0 | | 487 | 14888 | 611332 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 0 | | 487 | 14888 | 611332 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 0 | | 487 | 14888 | 611332 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 0 | | 1099 | 4296 | 300644 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 0 | | 1099 | 4296 | 300644 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 0 | | 1099 | 4296 | 300644 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | GNAS CL E G H | 2778 | 94089 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | GNAS CL E G H | 2778 | 79444 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | GNAS CL E G H | 2778 | 79443 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | GNAS CL E G H | 2778 | 79444 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | GNAS CL E G H | 2778 | 94089 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | GNAS CL E G H | 2778 | 79443 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | GNAS CL E G H | 2778 | 79444 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | GNAS CL E G H | 2778 | 94089 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | GNAS CL E G H | 2778 | 79443 | | | | ORPHA | 0 | | 644 | 4392 | 139320 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | HLA-B CL E G H | 3106 | 36426 | | | | ORPHA | 0 | | 29 | 4932 | 142830 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | HLA-B CL E G H | 3106 | 36426 | | | | ORPHA | 0 | | 29 | 4932 | 142830 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | HLA-B CL E G H | 3106 | 36426 | | | | ORPHA | 0 | | 29 | 4932 | 142830 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | IKZF1 CL E G H | 10320 | 36426 | | | | ORPHA | 0 | | 200 | 13176 | 603023 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | IKZF1 CL E G H | 10320 | 36426 | | | | ORPHA | 0 | | 200 | 13176 | 603023 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | IKZF1 CL E G H | 10320 | 36426 | | | | ORPHA | 0 | | 200 | 13176 | 603023 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 885 | 5331 | 605956 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 885 | 5331 | 605956 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 885 | 5331 | 605956 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | PGM1 CL E G H | 5236 | 614921 | Congenital disorder of glycosylation type 1t | 614921 | C2752015 | OMIM | 0 | | 413 | 8905 | 171900 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | PGM1 CL E G H | 5236 | 614921 | Congenital disorder of glycosylation type 1t | 614921 | C2752015 | OMIM | 0 | | 413 | 8905 | 171900 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | PGM1 CL E G H | 5236 | 614921 | Congenital disorder of glycosylation type 1t | 614921 | C2752015 | OMIM | 0 | | 413 | 8905 | 171900 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | PNKD CL E G H | 25953 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 521 | 9153 | 609023 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | PNKD CL E G H | 25953 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 521 | 9153 | 609023 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | PNKD CL E G H | 25953 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 521 | 9153 | 609023 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | PRRT2 CL E G H | 112476 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 799 | 30500 | 614386 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | PRRT2 CL E G H | 112476 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 799 | 30500 | 614386 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | PRRT2 CL E G H | 112476 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 799 | 30500 | 614386 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | SCN4A CL E G H | 6329 | 99735 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | SCN4A CL E G H | 6329 | 99735 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | SCN4A CL E G H | 6329 | 99735 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | STX16 CL E G H | 8675 | 94089 | | | | ORPHA | 0 | | 209 | 11431 | 603666 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | STX16 CL E G H | 8675 | 94089 | | | | ORPHA | 0 | | 209 | 11431 | 603666 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | STX16 CL E G H | 8675 | 94089 | | | | ORPHA | 0 | | 209 | 11431 | 603666 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | TBX4 CL E G H | 9496 | 261279 | | | | ORPHA | 0 | | 274 | 11603 | 601719 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | TBX4 CL E G H | 9496 | 261279 | | | | ORPHA | 0 | | 274 | 11603 | 601719 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | TBX4 CL E G H | 9496 | 261279 | | | | ORPHA | 0 | | 274 | 11603 | 601719 |
HP:0002094 | HP:0004885 | Episodic respiratory distress | 2 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002094 | HP:0030863 | Nasal flaring | 2 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002094 | HP:0030864 | Intercostal retractions | 2 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |