Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002789 | HP:0002789 | Tachypnea | 0 | ABCA3 CL E G H | 21 | 33 | ORPHA:70587 | Infant acute respiratory distress syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | ABCA3 CL E G H | 21 | 33 | OMIM:610921 | Surfactant metabolism dysfunction, pulmonary, 3 | . | | | 147 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | . | | | 53 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | HP:0040284 - Very rare | | | 200 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | . | | | 200 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | HP:0040281 - Very frequent | | | 91 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | ACTA2 CL E G H | 59 | 130 | OMIM:613834 | Multisystemic smooth muscle dysfunction syndrome | . | | | 94 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | | | | 175 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | AHI1 CL E G H | 54806 | 21575 | OMIM:608629 | Joubert syndrome 3 | | | | 175 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | | | | 62 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | | | | 1 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | ARMC9 CL E G H | 80210 | 20730 | OMIM:617622 | JOUBERT SYNDROME 30; JBTS30 | | | | | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040283 - Occasional | | | | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | | | | 28 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | | | | 34 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | BOLA3 CL E G H | 388962 | 24415 | OMIM:614299 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | | | | 14 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | . | | | 223 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | CA5A CL E G H | 763 | 1377 | OMIM:615751 | Hyperammonemia due to carbonic anhydrase VA deficiency | . | | | 10 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040282 - Frequent | | | 247 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | CASR CL E G H | 846 | 1514 | OMIM:239200 | Hyperparathyroidism, neonatal severe | . | | | 272 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | | | | 1 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612285 | Joubert syndrome 9 | | | | 247 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 247 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | | | | 405 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | | | | 5 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | | | | 7 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | | | | 342 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 342 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | | | | 90 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | COA6 CL E G H | 388753 | 18025 | OMIM:616501 | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4 | | | | 8 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | COPA CL E G H | 1314 | 2230 | OMIM:616414 | AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK | | | | 5 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | CSF2RA CL E G H | 1438 | 2435 | ORPHA:264675 | Hereditary pulmonary alveolar proteinosis | HP:0040283 - Occasional | | | 15 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | CSF2RA CL E G H | 1438 | 2435 | OMIM:300770 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4 | | | | 15 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | CSF2RB CL E G H | 1439 | 2436 | ORPHA:264675 | Hereditary pulmonary alveolar proteinosis | HP:0040283 - Occasional | | | 17 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:475 | Joubert syndrome | | | | 57 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040282 - Frequent | | | 57 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | | | | 64 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | | | | 5 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | HLCS CL E G H | 3141 | 4976 | OMIM:253270 | Holocarboxylase synthetase deficiency | . | | | 148 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | HLCS CL E G H | 3141 | 4976 | ORPHA:79242 | Holocarboxylase synthetase deficiency | HP:0040282 - Frequent | | | 148 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040282 - Frequent | | | 35 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:475 | Joubert syndrome | | | | 31 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | . | | | 209 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:475 | Joubert syndrome | | | | 111 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | KATNIP CL E G H | 23247 | 29068 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:475 | Joubert syndrome | | | | 24 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616490 | Joubert syndrome 23 | . | | | 24 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040282 - Frequent | | | 24 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 4 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 167 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | LRPPRC CL E G H | 10128 | 15714 | OMIM:220111 | Leigh syndrome, french Canadian type | . | | | 191 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | | | | 10 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | | | | 950 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:475 | Joubert syndrome | | | | 127 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040283 - Occasional | | | 101 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | . | | | | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3384 | Truncus arteriosus | HP:0040282 - Frequent | | | 3 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | | | | 1 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 201 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | OXCT1 CL E G H | 5019 | 8527 | OMIM:245050 | Succinyl CoA:3-oxoacid CoA transferase deficiency | . | | | 52 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | PAM16 CL E G H | 51025 | 29679 | OMIM:613320 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | . | | | 1 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | PCCA CL E G H | 5095 | 8653 | OMIM:606054 | Propionic acidemia | . | | | 96 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | PCCB CL E G H | 5096 | 8654 | OMIM:606054 | Propionic acidemia | . | | | 92 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 1 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | PIBF1 CL E G H | 10464 | 23352 | ORPHA:475 | Joubert syndrome | | | | 4 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:3384 | Truncus arteriosus | HP:0040282 - Frequent | | | | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | RHAG CL E G H | 6005 | 10006 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | RHCE CL E G H | 6006 | 10008 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | RHD CL E G H | 6007 | 10009 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | . | | | 167 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | HP:0040282 - Frequent | | | 1200 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040282 - Frequent | | | 1200 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | SFTPB CL E G H | 6439 | 10801 | ORPHA:70587 | Infant acute respiratory distress syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | SFTPB CL E G H | 6439 | 10801 | ORPHA:217563 | Neonatal acute respiratory distress due to SP-B deficiency | HP:0040281 - Very frequent | | | 51 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | SFTPB CL E G H | 6439 | 10801 | OMIM:265120 | Surfactant metabolism dysfunction, pulmonary, 1 | . | | | 51 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | SFTPC CL E G H | 6440 | 10802 | ORPHA:70587 | Infant acute respiratory distress syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | SFTPC CL E G H | 6440 | 10802 | OMIM:610913 | Surfactant metabolism dysfunction, pulmonary, 2 | | | | 33 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | SLC34A2 CL E G H | 10568 | 11020 | ORPHA:60025 | Pulmonary alveolar microlithiasis | HP:0040283 - Occasional | | | 7 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | | | | 135 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:475 | Joubert syndrome | | | | 124 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:475 | Joubert syndrome | | | | 45 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:475 | Joubert syndrome | | | | 76 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 31 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99106 | Atrial septal defect, ostium primum type | HP:0040283 - Occasional | | | 6 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 39 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | | | | 45 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 45 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 45 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | TMEM218 CL E G H | 219854 | 27344 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 33 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:475 | Joubert syndrome | | | | 82 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 82 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:475 | Joubert syndrome | | | | 166 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | TOGARAM1 CL E G H | 23116 | 19959 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 61 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | UQCRC2 CL E G H | 7385 | 12586 | OMIM:615160 | Mitochondrial complex III deficiency, nuclear type 5 | | | | 17 | | |
HP:0002789 | HP:0002789 | Tachypnea | 0 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 49 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 200 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | AHI1 CL E G H | 54806 | 21575 | OMIM:608629 | Joubert syndrome 3 | . | | | 175 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 62 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 28 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612285 | Joubert syndrome 9 | | | | 247 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 405 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | . | | | 342 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | HP:0040283 - Occasional | | | 64 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 111 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | . | | | 111 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | KATNIP CL E G H | 23247 | 29068 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 24 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 4 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 167 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 950 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 201 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 1 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | PIBF1 CL E G H | 10464 | 23352 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | . | | | 167 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 124 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 45 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 76 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 31 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 45 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | TMEM218 CL E G H | 219854 | 27344 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | TOGARAM1 CL E G H | 23116 | 19959 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 61 | | |
HP:0002789 | HP:0002876 | Episodic tachypnea | 1 | UQCRC2 CL E G H | 7385 | 12586 | OMIM:615160 | Mitochondrial complex III deficiency, nuclear type 5 | | | | 17 | | |