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:0001558 | HP:0001558 | Decreased fetal movement | 0 | ACTA1 CL E G H | 58 | 2020 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | ACTA1 CL E G H | 58 | 171433 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | ACTA1 CL E G H | 58 | 97240 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | ACTA1 CL E G H | 58 | 171430 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | ADGRG6 CL E G H | 57211 | 616503 | Lethal congenital contracture syndrome 9 | 616503 | C4225303 | OMIM | 1 | | 96 | 13841 | 612243 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | AGRN CL E G H | 375790 | 98914 | | | | ORPHA | 1 | | 1782 | 329 | 103320 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | B3GLCT CL E G H | 145173 | 709 | | | | ORPHA | 1 | | 266 | 20207 | 610308 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | BIN1 CL E G H | 274 | 169189 | | | | ORPHA | 1 | | 552 | 1052 | 601248 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | CCDC174 CL E G H | 51244 | 616816 | Hypotonia, infantile, with psychomotor retardation | 616816 | C4225196 | OMIM | 1 | | 61 | 28033 | 616735 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | CHAT CL E G H | 1103 | 98914 | | | | ORPHA | 1 | | 771 | 1912 | 118490 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | CHRNG CL E G H | 1146 | 265000 | Multiple pterygium syndrome Escobar type | 265000 | C0265261 | OMIM | 1 | | 220 | 1967 | 100730 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | CNTN1 CL E G H | 1272 | 612540 | Myopathy, congenital, compton-north | 612540 | C2675527 | OMIM | 1 | | 476 | 2171 | 600016 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | COL12A1 CL E G H | 1303 | 75840 | | | | ORPHA | 1 | | 1944 | 2188 | 120320 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | COL13A1 CL E G H | 1305 | 98914 | | | | ORPHA | 1 | | 397 | 2190 | 120350 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | COL6A1 CL E G H | 1291 | 75840 | | | | ORPHA | 1 | | 1470 | 2211 | 120220 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | COL6A1 CL E G H | 1291 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1470 | 2211 | 120220 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | COL6A2 CL E G H | 1292 | 75840 | | | | ORPHA | 1 | | 1644 | 2212 | 120240 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | COL6A2 CL E G H | 1292 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | COL6A3 CL E G H | 1293 | 75840 | | | | ORPHA | 1 | | 2414 | 2213 | 120250 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | COL6A3 CL E G H | 1293 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 2414 | 2213 | 120250 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 251 | 2263 | 603646 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 167 | 2309 | 605032 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 217 | 2494 | 602618 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 452 | 14677 | 602635 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 648 | 2860 | 602858 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | DMPK CL E G H | 1760 | 160900 | Steinert myotonic dystrophy syndrome | 160900 | C3250443 | OMIM | 1 | | 235 | 2933 | 605377 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | DNA2 CL E G H | 1763 | 352470 | | | | ORPHA | 1 | | 331 | 2939 | 601810 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 445 | 2973 | 603850 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | DNM2 CL E G H | 1785 | 169189 | | | | ORPHA | 1 | | 885 | 2974 | 602378 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | DNM2 CL E G H | 1785 | 615368 | Lethal congenital contracture syndrome 5 | 615368 | C3809272 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | ERBB3 CL E G H | 2065 | 607598 | Lethal congenital contracture syndrome 2 | 607598 | C1843478 | OMIM | 1 | | 97 | 3431 | 190151 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | ERCC5 CL E G H | 2073 | 616570 | Cerebrooculofacioskeletal syndrome 3 | 616570 | C1851443 | OMIM | 1 | | 425 | 3437 | 133530 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | FGFR3 CL E G H | 2261 | 187600 | Thanatophoric dysplasia type 1 | 187600 | C1868678 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | FGFR3 CL E G H | 2261 | 187601 | Thanatophoric dysplasia, type 2 | 187601 | C1300257 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 288 | 3693 | 605830 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 1 | | 154 | 3750 | 600362 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | GBA CL E G H | 2629 | 608013 | Gaucher disease, perinatal lethal | 608013 | C1842704 | OMIM | 1 | | | 4177 | 606463 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | GBE1 CL E G H | 2632 | 232500 | Glycogen storage disease, type IV | 232500 | C0017923 | OMIM | 1 | | 600 | 4180 | 607839 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | GFPT1 CL E G H | 2673 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 453 | 4241 | 138292 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | GLDN CL E G H | 342035 | 617194 | Lethal congenital contracture syndrome 11 | 617194 | C4310670 | OMIM | 1 | | 85 | 29514 | 608603 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | GMPPB CL E G H | 29925 | 615351 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 | 615351 | C3809221 | OMIM | 1 | | 273 | 22932 | 615320 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | GPKOW CL E G H | 27238 | 2570 | Growth deficiency brachydactyly unusual facies | | | ORPHA | 1 | | 164 | 30677 | 301003 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | HACD1 CL E G H | 9200 | 2020 | | | | ORPHA | 1 | | 109 | 9639 | 610467 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | HERC2 CL E G H | 8924 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 641 | 4868 | 605837 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 996 | 5542 | 600502 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | IPW CL E G H | 3653 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 294 | 6109 | 601491 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 1 | | 955 | 29059 | 300522 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | ISPD CL E G H | 729920 | 614643 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | 614643 | C3553330 | OMIM | 1 | | 647 | 37276 | 614631 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | ITGA7 CL E G H | 3679 | 2020 | | | | ORPHA | 1 | | 718 | 6143 | 600536 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | KLHL40 CL E G H | 131377 | 171430 | | | | ORPHA | 1 | | 378 | 30372 | 615340 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | KLHL41 CL E G H | 10324 | 171433 | | | | ORPHA | 1 | | 220 | 16905 | 607701 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | KLHL41 CL E G H | 10324 | 171430 | | | | ORPHA | 1 | | 220 | 16905 | 607701 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | LETM1 CL E G H | 3954 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 263 | 6556 | 604407 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | LETM1 CL E G H | 3954 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 263 | 6556 | 604407 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | LMNA CL E G H | 4000 | 1662 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | LMNA CL E G H | 4000 | 613205 | Congenital muscular dystrophy, LMNA-related | 613205 | C2750785 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | LMNA CL E G H | 4000 | 275210 | Lethal tight skin contracture syndrome | 275210 | C0406585 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | LMOD3 CL E G H | 56203 | 171430 | | | | ORPHA | 1 | | 326 | 6649 | 616112 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | LMOD3 CL E G H | 56203 | 616165 | Nemaline myopathy 10 | 616165 | C4015360 | OMIM | 1 | | 326 | 6649 | 616112 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | MAGEL2 CL E G H | 54551 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 620 | 6814 | 605283 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | MAP3K20 CL E G H | 51776 | 2020 | | | | ORPHA | 1 | | 243 | 17797 | 609479 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | MEGF10 CL E G H | 84466 | 614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | 614399 | C3280679 | OMIM | 1 | | 794 | 29634 | 612453 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | MKRN3 CL E G H | 7681 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 322 | 7114 | 603856 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | MKRN3-AS1 CL E G H | 10108 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | | 12910 | 603857 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 720 | 7448 | 300415 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | MTMR14 CL E G H | 64419 | 169189 | | | | ORPHA | 1 | | 156 | 26190 | 611089 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | MYCN CL E G H | 4613 | 164280 | Feingold syndrome 1 | 164280 | C0796068 | OMIM | 1 | | 146 | 7559 | 164840 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | MYF6 CL E G H | 4618 | 169189 | | | | ORPHA | 1 | | 78 | 7566 | 159991 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | MYH7 CL E G H | 4625 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 3612 | 7577 | 160760 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | MYL2 CL E G H | 4633 | 2020 | | | | ORPHA | 1 | | 445 | 7583 | 160781 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | MYMK CL E G H | 389827 | 254940 | Congenital nonprogressive myopathy with Moebius and Robin sequences | 254940 | C1850746 | OMIM | 1 | | 75 | 33778 | 615345 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | MYO9A CL E G H | 4649 | 98914 | | | | ORPHA | 1 | | 172 | 7608 | 604875 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | NDN CL E G H | 4692 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 303 | 7675 | 602117 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | NEB CL E G H | 4703 | 171433 | | | | ORPHA | 1 | | 6444 | 7720 | 161650 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | NEB CL E G H | 4703 | 171430 | | | | ORPHA | 1 | | 6444 | 7720 | 161650 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 6444 | 7720 | 161650 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | NECAP1 CL E G H | 25977 | 615833 | Early infantile epileptic encephalopathy 21 | 615833 | C4014430 | OMIM | 1 | | 167 | 24539 | 611623 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | NELFA CL E G H | 7469 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 174 | 12768 | 606026 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | NPAP1 CL E G H | 23742 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 327 | 1190 | 610922 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | NSD2 CL E G H | 7468 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 363 | 12766 | 602952 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | NSD2 CL E G H | 7468 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 363 | 12766 | 602952 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | PEX19 CL E G H | 5824 | 614886 | Peroxisome biogenesis disorder 12A | 614886 | C3554002 | OMIM | 1 | | 304 | 9713 | 600279 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | PEX3 CL E G H | 8504 | 614882 | Peroxisome biogenesis disorder 10A | 614882 | C3553999 | OMIM | 1 | | 271 | 8858 | 603164 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 1 | | 519 | 8923 | 606879 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | PHGDH CL E G H | 26227 | 256520 | Neu-Laxova syndrome 1 | 256520 | CN032230 | OMIM | 1 | | 519 | 8923 | 606879 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | PLOD1 CL E G H | 5351 | 225400 | Ehlers-Danlos syndrome, hydroxylysine-deficient | 225400 | C0268342 | OMIM | 1 | | 794 | 9081 | 153454 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | PREPL CL E G H | 9581 | 163690 | | | | ORPHA | 1 | | 549 | 30228 | 609557 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 1 | | 443 | 19129 | 610936 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | PSAT1 CL E G H | 29968 | 616038 | Neu-laxova syndrome 2 | 616038 | C4015019 | OMIM | 1 | | 443 | 19129 | 610936 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | PWAR1 CL E G H | 145624 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 295 | 30089 | 600161 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | PWRN1 CL E G H | 791114 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 305 | 33235 | 611215 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | RAI1 CL E G H | 10743 | 819 | | | | ORPHA | 1 | | 1149 | 9834 | 607642 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | RAPSN CL E G H | 5913 | 616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | 616326 | C4225367 | OMIM | 1 | | 433 | 9863 | 601592 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | RYR1 CL E G H | 6261 | 169189 | | | | ORPHA | 1 | | 5062 | 10483 | 180901 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | RYR1 CL E G H | 6261 | 98905 | | | | ORPHA | 1 | | 5062 | 10483 | 180901 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | RYR1 CL E G H | 6261 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | RYR1 CL E G H | 6261 | 255320 | Minicore myopathy | 255320 | C1850674 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SELENON CL E G H | 57190 | 2020 | | | | ORPHA | 1 | | 537 | 15999 | 606210 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SELENON CL E G H | 57190 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 537 | 15999 | 606210 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SLC18A3 CL E G H | 6572 | 98914 | | | | ORPHA | 1 | | 215 | 10936 | 600336 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SLC25A1 CL E G H | 6576 | 98914 | | | | ORPHA | 1 | | 505 | 10979 | 190315 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SLC25A26 CL E G H | 115286 | 616794 | Combined oxidative phosphorylation deficiency 28 | 616794 | C4225206 | OMIM | 1 | | 108 | 20661 | 611037 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SLC3A1 CL E G H | 6519 | 163690 | | | | ORPHA | 1 | | 335 | 11025 | 104614 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SLC5A7 CL E G H | 60482 | 98914 | | | | ORPHA | 1 | | 375 | 14025 | 608761 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SMN1 CL E G H | 6606 | 253300 | Werdnig-Hoffmann disease | 253300 | C0043116 | OMIM | 1 | | 208 | 11117 | 600354 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SNAP25 CL E G H | 6616 | 98914 | | | | ORPHA | 1 | | 191 | 11132 | 600322 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SNAP25 CL E G H | 6616 | 616330 | Myasthenic syndrome, congenital, 18 | 616330 | C4225364 | OMIM | 1 | | 191 | 11132 | 600322 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SNORD115-1 CL E G H | 338433 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 297 | 33020 | 609837 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SNORD116-1 CL E G H | 100033413 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 297 | 33067 | 605436 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SNRPN CL E G H | 6638 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 377 | 11164 | 182279 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SYT2 CL E G H | 127833 | 98914 | | | | ORPHA | 1 | | 160 | 11510 | 600104 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | TPM2 CL E G H | 7169 | 2020 | | | | ORPHA | 1 | | 280 | 12011 | 190990 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | TPM2 CL E G H | 7169 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 280 | 12011 | 190990 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | TPM3 CL E G H | 7170 | 171433 | | | | ORPHA | 1 | | 300 | 12012 | 191030 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | TPM3 CL E G H | 7170 | 2020 | | | | ORPHA | 1 | | 300 | 12012 | 191030 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | TPM3 CL E G H | 7170 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 300 | 12012 | 191030 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | TRAIP CL E G H | 10293 | 616777 | Seckel syndrome 9 | 616777 | C4225212 | OMIM | 1 | | 47 | 30764 | 605958 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | TRPV4 CL E G H | 59341 | 600175 | Distal spinal muscular atrophy, congenital nonprogressive | 600175 | C1838492 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 302 | 12367 | 604723 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | UBA1 CL E G H | 7317 | 301830 | Spinal muscular atrophy, X-linked 2 | 301830 | C1844934 | OMIM | 1 | | 531 | 12469 | 314370 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | VAMP1 CL E G H | 6843 | 98914 | | | | ORPHA | 1 | | 118 | 12642 | 185880 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | VPS13B CL E G H | 157680 | 193 | | | | ORPHA | 1 | | 3788 | 2183 | 607817 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | WDR62 CL E G H | 284403 | 604317 | Primary autosomal recessive microcephaly 2 | 604317 | C1858535 | OMIM | 1 | | 687 | 24502 | 613583 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | WHCR CL E G H | 7467 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | | 12764 | 0 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | ZBTB42 CL E G H | 100128927 | 616248 | Lethal congenital contracture syndrome 6 | 616248 | C4015686 | OMIM | 1 | | 86 | 32550 | 613915 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | ZMPSTE24 CL E G H | 10269 | 1662 | | | | ORPHA | 1 | | 176 | 12877 | 606480 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | ZMPSTE24 CL E G H | 10269 | 275210 | Lethal tight skin contracture syndrome | 275210 | C0406585 | OMIM | 1 | | 176 | 12877 | 606480 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | ACTA1 CL E G H | 58 | 97240 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | ACTA1 CL E G H | 58 | 171430 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | ACTA1 CL E G H | 58 | 2020 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | ACTA1 CL E G H | 58 | 171433 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | ADGRG6 CL E G H | 57211 | 616503 | Lethal congenital contracture syndrome 9 | 616503 | C4225303 | OMIM | 1 | | 96 | 13841 | 612243 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | AGRN CL E G H | 375790 | 98914 | | | | ORPHA | 1 | | 1782 | 329 | 103320 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | B3GLCT CL E G H | 145173 | 709 | | | | ORPHA | 1 | | 266 | 20207 | 610308 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | BIN1 CL E G H | 274 | 169189 | | | | ORPHA | 1 | | 552 | 1052 | 601248 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | CCDC174 CL E G H | 51244 | 616816 | Hypotonia, infantile, with psychomotor retardation | 616816 | C4225196 | OMIM | 1 | | 61 | 28033 | 616735 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | CHAT CL E G H | 1103 | 98914 | | | | ORPHA | 1 | | 771 | 1912 | 118490 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | CHRNG CL E G H | 1146 | 265000 | Multiple pterygium syndrome Escobar type | 265000 | C0265261 | OMIM | 1 | | 220 | 1967 | 100730 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | CNTN1 CL E G H | 1272 | 612540 | Myopathy, congenital, compton-north | 612540 | C2675527 | OMIM | 1 | | 476 | 2171 | 600016 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | COL12A1 CL E G H | 1303 | 75840 | | | | ORPHA | 1 | | 1944 | 2188 | 120320 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | COL13A1 CL E G H | 1305 | 98914 | | | | ORPHA | 1 | | 397 | 2190 | 120350 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | COL6A1 CL E G H | 1291 | 75840 | | | | ORPHA | 1 | | 1470 | 2211 | 120220 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | COL6A1 CL E G H | 1291 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1470 | 2211 | 120220 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | COL6A2 CL E G H | 1292 | 75840 | | | | ORPHA | 1 | | 1644 | 2212 | 120240 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | COL6A2 CL E G H | 1292 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | COL6A3 CL E G H | 1293 | 75840 | | | | ORPHA | 1 | | 2414 | 2213 | 120250 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | COL6A3 CL E G H | 1293 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 2414 | 2213 | 120250 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 251 | 2263 | 603646 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 167 | 2309 | 605032 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 217 | 2494 | 602618 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 452 | 14677 | 602635 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 648 | 2860 | 602858 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | DMPK CL E G H | 1760 | 160900 | Steinert myotonic dystrophy syndrome | 160900 | C3250443 | OMIM | 1 | | 235 | 2933 | 605377 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | DNA2 CL E G H | 1763 | 352470 | | | | ORPHA | 1 | | 331 | 2939 | 601810 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 445 | 2973 | 603850 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | DNM2 CL E G H | 1785 | 169189 | | | | ORPHA | 1 | | 885 | 2974 | 602378 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | DNM2 CL E G H | 1785 | 615368 | Lethal congenital contracture syndrome 5 | 615368 | C3809272 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | ERBB3 CL E G H | 2065 | 607598 | Lethal congenital contracture syndrome 2 | 607598 | C1843478 | OMIM | 1 | | 97 | 3431 | 190151 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | ERCC5 CL E G H | 2073 | 616570 | Cerebrooculofacioskeletal syndrome 3 | 616570 | C1851443 | OMIM | 1 | | 425 | 3437 | 133530 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | FGFR3 CL E G H | 2261 | 187600 | Thanatophoric dysplasia type 1 | 187600 | C1868678 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | FGFR3 CL E G H | 2261 | 187601 | Thanatophoric dysplasia, type 2 | 187601 | C1300257 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 288 | 3693 | 605830 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 1 | | 154 | 3750 | 600362 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | GBA CL E G H | 2629 | 608013 | Gaucher disease, perinatal lethal | 608013 | C1842704 | OMIM | 1 | | | 4177 | 606463 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | GBE1 CL E G H | 2632 | 232500 | Glycogen storage disease, type IV | 232500 | C0017923 | OMIM | 1 | | 600 | 4180 | 607839 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | GFPT1 CL E G H | 2673 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 453 | 4241 | 138292 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | GLDN CL E G H | 342035 | 617194 | Lethal congenital contracture syndrome 11 | 617194 | C4310670 | OMIM | 1 | | 85 | 29514 | 608603 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | GMPPB CL E G H | 29925 | 615351 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 | 615351 | C3809221 | OMIM | 1 | | 273 | 22932 | 615320 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | GPKOW CL E G H | 27238 | 2570 | Growth deficiency brachydactyly unusual facies | | | ORPHA | 1 | | 164 | 30677 | 301003 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | HACD1 CL E G H | 9200 | 2020 | | | | ORPHA | 1 | | 109 | 9639 | 610467 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | HERC2 CL E G H | 8924 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 641 | 4868 | 605837 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 996 | 5542 | 600502 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | IPW CL E G H | 3653 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 294 | 6109 | 601491 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 1 | | 955 | 29059 | 300522 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | ISPD CL E G H | 729920 | 614643 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | 614643 | C3553330 | OMIM | 1 | | 647 | 37276 | 614631 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | ITGA7 CL E G H | 3679 | 2020 | | | | ORPHA | 1 | | 718 | 6143 | 600536 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | KLHL40 CL E G H | 131377 | 171430 | | | | ORPHA | 1 | | 378 | 30372 | 615340 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | KLHL41 CL E G H | 10324 | 171433 | | | | ORPHA | 1 | | 220 | 16905 | 607701 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | KLHL41 CL E G H | 10324 | 171430 | | | | ORPHA | 1 | | 220 | 16905 | 607701 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | LETM1 CL E G H | 3954 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 263 | 6556 | 604407 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | LETM1 CL E G H | 3954 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 263 | 6556 | 604407 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | LMNA CL E G H | 4000 | 1662 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | LMNA CL E G H | 4000 | 613205 | Congenital muscular dystrophy, LMNA-related | 613205 | C2750785 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | LMNA CL E G H | 4000 | 275210 | Lethal tight skin contracture syndrome | 275210 | C0406585 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | LMOD3 CL E G H | 56203 | 171430 | | | | ORPHA | 1 | | 326 | 6649 | 616112 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | LMOD3 CL E G H | 56203 | 616165 | Nemaline myopathy 10 | 616165 | C4015360 | OMIM | 1 | | 326 | 6649 | 616112 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | MAGEL2 CL E G H | 54551 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 620 | 6814 | 605283 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | MAP3K20 CL E G H | 51776 | 2020 | | | | ORPHA | 1 | | 243 | 17797 | 609479 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | MEGF10 CL E G H | 84466 | 614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | 614399 | C3280679 | OMIM | 1 | | 794 | 29634 | 612453 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | MKRN3 CL E G H | 7681 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 322 | 7114 | 603856 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | MKRN3-AS1 CL E G H | 10108 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | | 12910 | 603857 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 720 | 7448 | 300415 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | MTMR14 CL E G H | 64419 | 169189 | | | | ORPHA | 1 | | 156 | 26190 | 611089 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | MYCN CL E G H | 4613 | 164280 | Feingold syndrome 1 | 164280 | C0796068 | OMIM | 1 | | 146 | 7559 | 164840 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | MYF6 CL E G H | 4618 | 169189 | | | | ORPHA | 1 | | 78 | 7566 | 159991 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | MYH7 CL E G H | 4625 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 3612 | 7577 | 160760 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | MYL2 CL E G H | 4633 | 2020 | | | | ORPHA | 1 | | 445 | 7583 | 160781 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | MYMK CL E G H | 389827 | 254940 | Congenital nonprogressive myopathy with Moebius and Robin sequences | 254940 | C1850746 | OMIM | 1 | | 75 | 33778 | 615345 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | MYO9A CL E G H | 4649 | 98914 | | | | ORPHA | 1 | | 172 | 7608 | 604875 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | NDN CL E G H | 4692 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 303 | 7675 | 602117 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | NEB CL E G H | 4703 | 171430 | | | | ORPHA | 1 | | 6444 | 7720 | 161650 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | NEB CL E G H | 4703 | 171433 | | | | ORPHA | 1 | | 6444 | 7720 | 161650 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 6444 | 7720 | 161650 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | NECAP1 CL E G H | 25977 | 615833 | Early infantile epileptic encephalopathy 21 | 615833 | C4014430 | OMIM | 1 | | 167 | 24539 | 611623 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | NELFA CL E G H | 7469 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 174 | 12768 | 606026 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | NPAP1 CL E G H | 23742 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 327 | 1190 | 610922 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | NSD2 CL E G H | 7468 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 363 | 12766 | 602952 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | NSD2 CL E G H | 7468 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 363 | 12766 | 602952 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | PEX19 CL E G H | 5824 | 614886 | Peroxisome biogenesis disorder 12A | 614886 | C3554002 | OMIM | 1 | | 304 | 9713 | 600279 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | PEX3 CL E G H | 8504 | 614882 | Peroxisome biogenesis disorder 10A | 614882 | C3553999 | OMIM | 1 | | 271 | 8858 | 603164 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 1 | | 519 | 8923 | 606879 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | PHGDH CL E G H | 26227 | 256520 | Neu-Laxova syndrome 1 | 256520 | CN032230 | OMIM | 1 | | 519 | 8923 | 606879 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | PLOD1 CL E G H | 5351 | 225400 | Ehlers-Danlos syndrome, hydroxylysine-deficient | 225400 | C0268342 | OMIM | 1 | | 794 | 9081 | 153454 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | PREPL CL E G H | 9581 | 163690 | | | | ORPHA | 1 | | 549 | 30228 | 609557 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 1 | | 443 | 19129 | 610936 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | PSAT1 CL E G H | 29968 | 616038 | Neu-laxova syndrome 2 | 616038 | C4015019 | OMIM | 1 | | 443 | 19129 | 610936 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | PWAR1 CL E G H | 145624 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 295 | 30089 | 600161 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | PWRN1 CL E G H | 791114 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 305 | 33235 | 611215 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | RAI1 CL E G H | 10743 | 819 | | | | ORPHA | 1 | | 1149 | 9834 | 607642 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | RAPSN CL E G H | 5913 | 616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | 616326 | C4225367 | OMIM | 1 | | 433 | 9863 | 601592 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | RYR1 CL E G H | 6261 | 169189 | | | | ORPHA | 1 | | 5062 | 10483 | 180901 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | RYR1 CL E G H | 6261 | 98905 | | | | ORPHA | 1 | | 5062 | 10483 | 180901 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | RYR1 CL E G H | 6261 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | RYR1 CL E G H | 6261 | 255320 | Minicore myopathy | 255320 | C1850674 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SELENON CL E G H | 57190 | 2020 | | | | ORPHA | 1 | | 537 | 15999 | 606210 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SELENON CL E G H | 57190 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 537 | 15999 | 606210 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SLC18A3 CL E G H | 6572 | 98914 | | | | ORPHA | 1 | | 215 | 10936 | 600336 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SLC25A1 CL E G H | 6576 | 98914 | | | | ORPHA | 1 | | 505 | 10979 | 190315 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SLC25A26 CL E G H | 115286 | 616794 | Combined oxidative phosphorylation deficiency 28 | 616794 | C4225206 | OMIM | 1 | | 108 | 20661 | 611037 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SLC3A1 CL E G H | 6519 | 163690 | | | | ORPHA | 1 | | 335 | 11025 | 104614 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SLC5A7 CL E G H | 60482 | 98914 | | | | ORPHA | 1 | | 375 | 14025 | 608761 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SMN1 CL E G H | 6606 | 253300 | Werdnig-Hoffmann disease | 253300 | C0043116 | OMIM | 1 | | 208 | 11117 | 600354 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SNAP25 CL E G H | 6616 | 98914 | | | | ORPHA | 1 | | 191 | 11132 | 600322 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SNAP25 CL E G H | 6616 | 616330 | Myasthenic syndrome, congenital, 18 | 616330 | C4225364 | OMIM | 1 | | 191 | 11132 | 600322 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SNORD115-1 CL E G H | 338433 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 297 | 33020 | 609837 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SNORD116-1 CL E G H | 100033413 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 297 | 33067 | 605436 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SNRPN CL E G H | 6638 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 377 | 11164 | 182279 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SYT2 CL E G H | 127833 | 98914 | | | | ORPHA | 1 | | 160 | 11510 | 600104 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | TPM2 CL E G H | 7169 | 2020 | | | | ORPHA | 1 | | 280 | 12011 | 190990 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | TPM2 CL E G H | 7169 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 280 | 12011 | 190990 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | TPM3 CL E G H | 7170 | 171433 | | | | ORPHA | 1 | | 300 | 12012 | 191030 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | TPM3 CL E G H | 7170 | 2020 | | | | ORPHA | 1 | | 300 | 12012 | 191030 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | TPM3 CL E G H | 7170 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 300 | 12012 | 191030 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | TRAIP CL E G H | 10293 | 616777 | Seckel syndrome 9 | 616777 | C4225212 | OMIM | 1 | | 47 | 30764 | 605958 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | TRPV4 CL E G H | 59341 | 600175 | Distal spinal muscular atrophy, congenital nonprogressive | 600175 | C1838492 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 302 | 12367 | 604723 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | UBA1 CL E G H | 7317 | 301830 | Spinal muscular atrophy, X-linked 2 | 301830 | C1844934 | OMIM | 1 | | 531 | 12469 | 314370 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | VAMP1 CL E G H | 6843 | 98914 | | | | ORPHA | 1 | | 118 | 12642 | 185880 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | VPS13B CL E G H | 157680 | 193 | | | | ORPHA | 1 | | 3788 | 2183 | 607817 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | WDR62 CL E G H | 284403 | 604317 | Primary autosomal recessive microcephaly 2 | 604317 | C1858535 | OMIM | 1 | | 687 | 24502 | 613583 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | WHCR CL E G H | 7467 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | | 12764 | 0 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | ZBTB42 CL E G H | 100128927 | 616248 | Lethal congenital contracture syndrome 6 | 616248 | C4015686 | OMIM | 1 | | 86 | 32550 | 613915 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | ZMPSTE24 CL E G H | 10269 | 1662 | | | | ORPHA | 1 | | 176 | 12877 | 606480 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | ZMPSTE24 CL E G H | 10269 | 275210 | Lethal tight skin contracture syndrome | 275210 | C0406585 | OMIM | 1 | | 176 | 12877 | 606480 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 437 | 567 | 602166 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 71 | 29561 | 611647 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | ASCC1 CL E G H | 51008 | 616867 | Spinal muscular atrophy with congenital bone fractures 2 | 616867 | C4225176 | OMIM | 0 | | 102 | 24268 | 614215 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | ASCL1 CL E G H | 429 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 0 | | 32 | 738 | 100790 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 123 | 851 | 607027 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | BICD2 CL E G H | 23299 | 363454 | | | | ORPHA | 0 | | 590 | 17208 | 609797 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 2689 | 1388 | 601011 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 0 | | 34 | 26276 | 609559 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | CHRND CL E G H | 1144 | 616322 | Myasthenic syndrome, congenital, 3b, fast-channel | 616322 | C4225371 | OMIM | 0 | | 408 | 1965 | 100720 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 390 | 2092 | 118955 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 264 | 19701 | 300724 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 416 | 13760 | 606323 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 318 | 20603 | 608172 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 622 | 2972 | 602377 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | DOK7 CL E G H | 285489 | 254300 | Myasthenia, limb-girdle, familial | 254300 | C1850792 | OMIM | 0 | | 840 | 26594 | 610285 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | EBF3 CL E G H | 253738 | 617330 | Hypotonia, ataxia, and delayed development syndrome | 617330 | C4310618 | OMIM | 0 | | 229 | 19087 | 607407 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 493 | 3192 | 602959 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 210 | 3668 | 601513 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 421 | 4082 | 600232 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 519 | 4588 | 602717 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 635 | 4845 | 602780 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 325 | 6220 | 176262 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 518 | 6231 | 600397 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | LMNA CL E G H | 4000 | 157973 | | | | ORPHA | 0 | | 1622 | 6636 | 150330 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | MYH3 CL E G H | 4621 | 193700 | Freeman-Sheldon syndrome | 193700 | C0265224 | OMIM | 0 | | 641 | 7573 | 160720 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 167 | 24539 | 611623 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 333 | 8032 | 600456 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 220 | 21042 | 610463 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | PHOX2B CL E G H | 8929 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 0 | | 840 | 9143 | 603851 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | PPM1B CL E G H | 5495 | 163693 | | | | ORPHA | 0 | | 32 | 9276 | 603770 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 233 | 9314 | 114105 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | PREPL CL E G H | 9581 | 163693 | | | | ORPHA | 0 | | 549 | 30228 | 609557 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | RET CL E G H | 5979 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 0 | | 2692 | 9967 | 164761 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1096 | 10590 | 182391 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1494 | 10596 | 600702 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 568 | 23089 | 608305 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 236 | 10940 | 600300 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SLC25A19 CL E G H | 60386 | 99742 | | | | ORPHA | 0 | | 136 | 14409 | 606521 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SLC3A1 CL E G H | 6519 | 163693 | | | | ORPHA | 0 | | 335 | 11025 | 104614 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 871 | 11444 | 602926 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1086 | 11497 | 603384 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1046 | 11503 | 604297 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2342 | 29040 | 615463 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | TMCO1 CL E G H | 54499 | 213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | 213980 | C1859252 | OMIM | 0 | | 65 | 18188 | 614123 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 106 | 29947 | 608112 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | TRIP4 CL E G H | 9325 | 616866 | Spinal muscular atrophy with congenital bone fractures 1 | 616866 | C4225177 | OMIM | 0 | | 139 | 12310 | 604501 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 157 | 23230 | 610552 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 967 | 12799 | 605131 |
HP:0001558 | HP:0001558 | Decreased fetal movement | 0 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 128 | 12852 | 605356 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 437 | 567 | 602166 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 71 | 29561 | 611647 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | ASCC1 CL E G H | 51008 | 616867 | Spinal muscular atrophy with congenital bone fractures 2 | 616867 | C4225176 | OMIM | 0 | | 102 | 24268 | 614215 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | ASCL1 CL E G H | 429 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 0 | | 32 | 738 | 100790 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 123 | 851 | 607027 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | BICD2 CL E G H | 23299 | 363454 | | | | ORPHA | 0 | | 590 | 17208 | 609797 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 2689 | 1388 | 601011 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 0 | | 34 | 26276 | 609559 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | CHRND CL E G H | 1144 | 616322 | Myasthenic syndrome, congenital, 3b, fast-channel | 616322 | C4225371 | OMIM | 0 | | 408 | 1965 | 100720 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 390 | 2092 | 118955 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 264 | 19701 | 300724 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 416 | 13760 | 606323 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 318 | 20603 | 608172 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 622 | 2972 | 602377 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | DOK7 CL E G H | 285489 | 254300 | Myasthenia, limb-girdle, familial | 254300 | C1850792 | OMIM | 0 | | 840 | 26594 | 610285 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | EBF3 CL E G H | 253738 | 617330 | Hypotonia, ataxia, and delayed development syndrome | 617330 | C4310618 | OMIM | 0 | | 229 | 19087 | 607407 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 493 | 3192 | 602959 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 210 | 3668 | 601513 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 421 | 4082 | 600232 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 519 | 4588 | 602717 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 635 | 4845 | 602780 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 325 | 6220 | 176262 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 518 | 6231 | 600397 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | LMNA CL E G H | 4000 | 157973 | | | | ORPHA | 0 | | 1622 | 6636 | 150330 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | MYH3 CL E G H | 4621 | 193700 | Freeman-Sheldon syndrome | 193700 | C0265224 | OMIM | 0 | | 641 | 7573 | 160720 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 167 | 24539 | 611623 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 333 | 8032 | 600456 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 220 | 21042 | 610463 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | PHOX2B CL E G H | 8929 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 0 | | 840 | 9143 | 603851 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | PPM1B CL E G H | 5495 | 163693 | | | | ORPHA | 0 | | 32 | 9276 | 603770 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 233 | 9314 | 114105 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | PREPL CL E G H | 9581 | 163693 | | | | ORPHA | 0 | | 549 | 30228 | 609557 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | RET CL E G H | 5979 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 0 | | 2692 | 9967 | 164761 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1096 | 10590 | 182391 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1494 | 10596 | 600702 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 568 | 23089 | 608305 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 236 | 10940 | 600300 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SLC25A19 CL E G H | 60386 | 99742 | | | | ORPHA | 0 | | 136 | 14409 | 606521 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SLC3A1 CL E G H | 6519 | 163693 | | | | ORPHA | 0 | | 335 | 11025 | 104614 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 871 | 11444 | 602926 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1086 | 11497 | 603384 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1046 | 11503 | 604297 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2342 | 29040 | 615463 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | TMCO1 CL E G H | 54499 | 213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | 213980 | C1859252 | OMIM | 0 | | 65 | 18188 | 614123 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 106 | 29947 | 608112 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | TRIP4 CL E G H | 9325 | 616866 | Spinal muscular atrophy with congenital bone fractures 1 | 616866 | C4225177 | OMIM | 0 | | 139 | 12310 | 604501 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 157 | 23230 | 610552 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 967 | 12799 | 605131 |
HP:0001558 | HP:0001989 | Fetal akinesia sequence | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 128 | 12852 | 605356 |