Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
---|
HPO disease - gene - phenotype typical associations: |
HP:0003581 | HP:0003581 | Adult onset | 0 | ADRA2B CL E G H | 151 | 607876 | Epilepsy, familial adult myoclonic 2 | 607876 | C1842852 | OMIM | 1 | | 80 | 282 | 104260 |
HP:0003581 | HP:0003581 | Adult onset | 0 | AKT1 CL E G H | 207 | 615109 | Cowden syndrome 6 | 615109 | C3554519 | OMIM | 1 | | 634 | 391 | 164730 |
HP:0003581 | HP:0003581 | Adult onset | 0 | ANKH CL E G H | 56172 | 118600 | Chondrocalcinosis 2 | 118600 | C0856830 | OMIM | 1 | | 457 | 15492 | 605145 |
HP:0003581 | HP:0003581 | Adult onset | 0 | ANO5 CL E G H | 203859 | 613319 | Miyoshi muscular dystrophy 3 | 613319 | C2750076 | OMIM | 1 | | 972 | 27337 | 608662 |
HP:0003581 | HP:0003581 | Adult onset | 0 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0003581 | HP:0003581 | Adult onset | 0 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 556 | 644 | 313700 |
HP:0003581 | HP:0003581 | Adult onset | 0 | ARHGEF10 CL E G H | 9639 | 608236 | Slowed nerve conduction velocity, autosomal dominant | 608236 | C1842357 | OMIM | 1 | | 511 | 14103 | 608136 |
HP:0003581 | HP:0003581 | Adult onset | 0 | ATL1 CL E G H | 51062 | 613708 | Hereditary sensory neuropathy type 1D | 613708 | C3150972 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0003581 | HP:0003581 | Adult onset | 0 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0003581 | HP:0003581 | Adult onset | 0 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 173 | 28337 | 614260 |
HP:0003581 | HP:0003581 | Adult onset | 0 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 469 | 1389 | 601012 |
HP:0003581 | HP:0003581 | Adult onset | 0 | CAPN3 CL E G H | 825 | 618129 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 | 618129 | CN253839 | OMIM | 1 | | 1288 | 1480 | 114240 |
HP:0003581 | HP:0003581 | Adult onset | 0 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0003581 | HP:0003581 | Adult onset | 0 | CCDC88C CL E G H | 440193 | 616053 | Spinocerebellar ataxia 40 | 616053 | CN252333 | OMIM | 1 | | 279 | 19967 | 611204 |
HP:0003581 | HP:0003581 | Adult onset | 0 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0003581 | HP:0003581 | Adult onset | 0 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 553 | 2077 | 606725 |
HP:0003581 | HP:0003581 | Adult onset | 0 | CPT1C CL E G H | 126129 | 616282 | Spastic paraplegia 73, autosomal dominant | 616282 | C4225387 | OMIM | 1 | | 133 | 18540 | 608846 |
HP:0003581 | HP:0003581 | Adult onset | 0 | CRYAB CL E G H | 1410 | 608810 | Alpha-B crystallinopathy | 608810 | C1837317 | OMIM | 1 | | 230 | 2389 | 123590 |
HP:0003581 | HP:0003581 | Adult onset | 0 | CSF1R CL E G H | 1436 | 221820 | Hereditary diffuse leukoencephalopathy with spheroids | 221820 | C3711381 | OMIM | 1 | | 518 | 2433 | 164770 |
HP:0003581 | HP:0003581 | Adult onset | 0 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 182 | 2531 | 603539 |
HP:0003581 | HP:0003581 | Adult onset | 0 | CYLD CL E G H | 1540 | 132700 | Cylindromatosis, familial | 132700 | C1851526 | OMIM | 1 | | 252 | 2584 | 605018 |
HP:0003581 | HP:0003581 | Adult onset | 0 | CYLD CL E G H | 1540 | 601606 | Familial multiple trichoepitheliomata | 601606 | C1275122 | OMIM | 1 | | 252 | 2584 | 605018 |
HP:0003581 | HP:0003581 | Adult onset | 0 | CYLD CL E G H | 1540 | 605041 | Spiegler-Brooke syndrome | 605041 | C1857941 | OMIM | 1 | | 252 | 2584 | 605018 |
HP:0003581 | HP:0003581 | Adult onset | 0 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0003581 | HP:0003581 | Adult onset | 0 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 167 | 2858 | 601465 |
HP:0003581 | HP:0003581 | Adult onset | 0 | DMD CL E G H | 1756 | 300376 | Becker muscular dystrophy | 300376 | C0917713 | OMIM | 1 | | 7370 | 2928 | 300377 |
HP:0003581 | HP:0003581 | Adult onset | 0 | DNAJB11 CL E G H | 51726 | 618061 | POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | 618061 | CN252647 | OMIM | 1 | | 111 | 14889 | 611341 |
HP:0003581 | HP:0003581 | Adult onset | 0 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 1 | | 411 | 14888 | 611332 |
HP:0003581 | HP:0003581 | Adult onset | 0 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 393 | 16235 | 611203 |
HP:0003581 | HP:0003581 | Adult onset | 0 | DNMT1 CL E G H | 1786 | 604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | 604121 | C1858804 | OMIM | 1 | | 995 | 2976 | 126375 |
HP:0003581 | HP:0003581 | Adult onset | 0 | DPM3 CL E G H | 54344 | 612937 | Congenital disorder of glycosylation type 1O | 612937 | C2752007 | OMIM | 1 | | 60 | 3007 | 605951 |
HP:0003581 | HP:0003581 | Adult onset | 0 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | | 2736 | 3097 | 603009 |
HP:0003581 | HP:0003581 | Adult onset | 0 | EEF2 CL E G H | 1938 | 609306 | Spinocerebellar ataxia 26 | 609306 | C1836395 | OMIM | 1 | | 204 | 3214 | 130610 |
HP:0003581 | HP:0003581 | Adult onset | 0 | ENO3 CL E G H | 2027 | 612932 | Glycogen storage disease type 13 | 612932 | C2752027 | OMIM | 1 | | 175 | 3354 | 131370 |
HP:0003581 | HP:0003581 | Adult onset | 0 | ERBB4 CL E G H | 2066 | 615515 | Amyotrophic lateral sclerosis 19 | 615515 | C3715155 | OMIM | 1 | | 321 | 3432 | 600543 |
HP:0003581 | HP:0003581 | Adult onset | 0 | F5 CL E G H | 2153 | 188055 | Thrombophilia due to activated protein C resistance | 188055 | C1861171 | OMIM | 1 | | 513 | 3542 | 612309 |
HP:0003581 | HP:0003581 | Adult onset | 0 | FAT2 CL E G H | 2196 | 617769 | SPINOCEREBELLAR ATAXIA 45 | 617769 | C4540400 | OMIM | 1 | | 188 | 3596 | 604269 |
HP:0003581 | HP:0003581 | Adult onset | 0 | FHL1 CL E G H | 2273 | 300695 | Scapuloperoneal myopathy, X-linked dominant | 300695 | C2678061 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0003581 | HP:0003581 | Adult onset | 0 | FLNC CL E G H | 2318 | 609524 | Myofibrillar myopathy, filamin C-related | 609524 | C1836050 | OMIM | 1 | | 3455 | 3756 | 102565 |
HP:0003581 | HP:0003581 | Adult onset | 0 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 338 | 3775 | 309550 |
HP:0003581 | HP:0003581 | Adult onset | 0 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0003581 | HP:0003581 | Adult onset | 0 | GBE1 CL E G H | 2632 | 263570 | Polyglucosan body disease, adult | 263570 | C1849722 | OMIM | 1 | | 600 | 4180 | 607839 |
HP:0003581 | HP:0003581 | Adult onset | 0 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0003581 | HP:0003581 | Adult onset | 0 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 783 | 23657 | 603824 |
HP:0003581 | HP:0003581 | Adult onset | 0 | GSN CL E G H | 2934 | 105120 | Meretoja syndrome | 105120 | C1622345 | OMIM | 1 | | 412 | 4620 | 137350 |
HP:0003581 | HP:0003581 | Adult onset | 0 | HNRNPDL CL E G H | 9987 | 609115 | Limb-girdle muscular dystrophy, type 1G | 609115 | C1836765 | OMIM | 1 | | 248 | 5037 | 607137 |
HP:0003581 | HP:0003581 | Adult onset | 0 | HSPB1 CL E G H | 3315 | 608634 | Distal hereditary motor neuronopathy type 2B | 608634 | C2608087 | OMIM | 1 | | 329 | 5246 | 602195 |
HP:0003581 | HP:0003581 | Adult onset | 0 | ITPR1 CL E G H | 3708 | 606658 | Spinocerebellar ataxia 15 | 606658 | C1847725 | OMIM | 1 | | 1134 | 6180 | 147265 |
HP:0003581 | HP:0003581 | Adult onset | 0 | LMNB1 CL E G H | 4001 | 169500 | Leukodystrophy, adult-onset, autosomal dominant | 169500 | C1868512 | OMIM | 1 | | 169 | 6637 | 150340 |
HP:0003581 | HP:0003581 | Adult onset | 0 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0003581 | HP:0003581 | Adult onset | 0 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0003581 | HP:0003581 | Adult onset | 0 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 1 | | 333 | 6912 | 164015 |
HP:0003581 | HP:0003581 | Adult onset | 0 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 525 | 28845 | 610197 |
HP:0003581 | HP:0003581 | Adult onset | 0 | MME CL E G H | 4311 | 617017 | Charcot-Marie-Tooth disease, axonal, type 2T | 617017 | C4015635 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0003581 | HP:0003581 | Adult onset | 0 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0003581 | HP:0003581 | Adult onset | 0 | MN1 CL E G H | 4330 | 607174 | Meningioma, familial | 607174 | C1333989 | OMIM | 1 | | 100 | 7180 | 156100 |
HP:0003581 | HP:0003581 | Adult onset | 0 | MTOR CL E G H | 2475 | 607341 | Focal cortical dysplasia type II | 607341 | C1846385 | OMIM | 1 | | 1671 | 3942 | 601231 |
HP:0003581 | HP:0003581 | Adult onset | 0 | MUC1 CL E G H | 4582 | 174000 | Medullary cystic kidney disease 1 | 174000 | C1868139 | OMIM | 1 | | 25 | 7508 | 158340 |
HP:0003581 | HP:0003581 | Adult onset | 0 | MYOT CL E G H | 9499 | 609200 | Myotilinopathy | 609200 | C1836607 | OMIM | 1 | | 295 | 12399 | 604103 |
HP:0003581 | HP:0003581 | Adult onset | 0 | NAGA CL E G H | 4668 | 609242 | Kanzaki disease | 609242 | C1836522 | OMIM | 1 | | 183 | 7631 | 104170 |
HP:0003581 | HP:0003581 | Adult onset | 0 | NF2 CL E G H | 4771 | 607174 | Meningioma, familial | 607174 | C1333989 | OMIM | 1 | | 1518 | 7773 | 607379 |
HP:0003581 | HP:0003581 | Adult onset | 0 | NOL3 CL E G H | 8996 | 614937 | Myoclonus, familial cortical | 614937 | C3539916 | OMIM | 1 | | 43 | 7869 | 605235 |
HP:0003581 | HP:0003581 | Adult onset | 0 | NOTCH3 CL E G H | 4854 | 125310 | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | 125310 | C0751587 | OMIM | 1 | | 1133 | 7883 | 600276 |
HP:0003581 | HP:0003581 | Adult onset | 0 | OSMR CL E G H | 9180 | 105250 | Primary localized cutaneous amyloidosis 1 | 105250 | C0268398 | OMIM | 1 | | 58 | 8507 | 601743 |
HP:0003581 | HP:0003581 | Adult onset | 0 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 63 | 8565 | 602279 |
HP:0003581 | HP:0003581 | Adult onset | 0 | PARK7 CL E G H | 11315 | 606324 | Parkinson disease 7 | 606324 | C1853445 | OMIM | 1 | | 160 | 16369 | 602533 |
HP:0003581 | HP:0003581 | Adult onset | 0 | PARN CL E G H | 5073 | 616371 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 | 616371 | C4225347 | OMIM | 1 | | 443 | 8609 | 604212 |
HP:0003581 | HP:0003581 | Adult onset | 0 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0003581 | HP:0003581 | Adult onset | 0 | PDGFB CL E G H | 5155 | 607174 | Meningioma, familial | 607174 | C1333989 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0003581 | HP:0003581 | Adult onset | 0 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 345 | 8804 | 173410 |
HP:0003581 | HP:0003581 | Adult onset | 0 | PIK3CA CL E G H | 5290 | 615108 | Cowden syndrome 5 | 615108 | C3554518 | OMIM | 1 | | 975 | 8975 | 171834 |
HP:0003581 | HP:0003581 | Adult onset | 0 | PLD3 CL E G H | 23646 | 617770 | SPINOCEREBELLAR ATAXIA 46 | 617770 | C4540404 | OMIM | 1 | | 22 | 17158 | 615698 |
HP:0003581 | HP:0003581 | Adult onset | 0 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 1 | | 443 | 30802 | 609059 |
HP:0003581 | HP:0003581 | Adult onset | 0 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0003581 | HP:0003581 | Adult onset | 0 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0003581 | HP:0003581 | Adult onset | 0 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0003581 | HP:0003581 | Adult onset | 0 | POLG2 CL E G H | 11232 | 610131 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 | 610131 | C1864668 | OMIM | 1 | | 240 | 9180 | 604983 |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRKCSH CL E G H | 5589 | 174050 | Polycystic liver disease 1 | 174050 | C4310613 | OMIM | 1 | | 211 | 9411 | 177060 |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRKN CL E G H | 5071 | 600116 | Parkinson disease 2 | 600116 | C1868675 | OMIM | 1 | | 655 | 8607 | 602544 |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0003581 | HP:0003581 | Adult onset | 0 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 452 | 9508 | 104311 |
HP:0003581 | HP:0003581 | Adult onset | 0 | PTEN CL E G H | 5728 | 158350 | Cowden syndrome 1 | 158350 | CN072330 | OMIM | 1 | | 2750 | 9588 | 601728 |
HP:0003581 | HP:0003581 | Adult onset | 0 | RNF170 CL E G H | 81790 | 608984 | Ataxia, sensory, autosomal dominant | 608984 | C1837015 | OMIM | 1 | | 68 | 25358 | 614649 |
HP:0003581 | HP:0003581 | Adult onset | 0 | RTEL1 CL E G H | 51750 | 616373 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 | 616373 | C4225346 | OMIM | 1 | | 2005 | 15888 | 608833 |
HP:0003581 | HP:0003581 | Adult onset | 0 | SAMD12 CL E G H | 401474 | 601068 | Epilepsy, familial adult myoclonic, 1 | 601068 | C1832841 | OMIM | 1 | | 62 | 31750 | 618073 |
HP:0003581 | HP:0003581 | Adult onset | 0 | SCN10A CL E G H | 6336 | 615551 | Episodic pain syndrome, familial, 2 | 615551 | C3809893 | OMIM | 1 | | 1539 | 10582 | 604427 |
HP:0003581 | HP:0003581 | Adult onset | 0 | SDHAF2 CL E G H | 54949 | 601650 | Paragangliomas 2 | 601650 | C1866552 | OMIM | 1 | | 412 | 26034 | 613019 |
HP:0003581 | HP:0003581 | Adult onset | 0 | SDHB CL E G H | 6390 | 115310 | Paragangliomas 4 | 115310 | C1861848 | OMIM | 1 | | 1099 | 10681 | 185470 |
HP:0003581 | HP:0003581 | Adult onset | 0 | SDHC CL E G H | 6391 | 605373 | Paragangliomas 3 | 605373 | C1854336 | OMIM | 1 | | 702 | 10682 | 602413 |
HP:0003581 | HP:0003581 | Adult onset | 0 | SDHD CL E G H | 6392 | 168000 | Paragangliomas 1 | 168000 | C1868633 | OMIM | 1 | | 607 | 10683 | 602690 |
HP:0003581 | HP:0003581 | Adult onset | 0 | SEC63 CL E G H | 11231 | 617004 | Polycystic liver disease 2 | 617004 | C4310769 | OMIM | 1 | | 343 | 21082 | 608648 |
HP:0003581 | HP:0003581 | Adult onset | 0 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 281 | 10947 | 158378 |
HP:0003581 | HP:0003581 | Adult onset | 0 | SLC25A4 CL E G H | 291 | 609283 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | 609283 | C1836460 | OMIM | 1 | | 278 | 10990 | 103220 |
HP:0003581 | HP:0003581 | Adult onset | 0 | SMCHD1 CL E G H | 23347 | 158901 | Facioscapulohumeral muscular dystrophy 2 | 158901 | C1834671 | OMIM | 1 | | 1011 | 29090 | 614982 |
HP:0003581 | HP:0003581 | Adult onset | 0 | SMN1 CL E G H | 6606 | 271150 | Spinal muscular atrophy type 4 | 271150 | C1838230 | OMIM | 1 | | 208 | 11117 | 600354 |
HP:0003581 | HP:0003581 | Adult onset | 0 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2165 | 11226 | 610844 |
HP:0003581 | HP:0003581 | Adult onset | 0 | SPG7 CL E G H | 6687 | 607259 | Spastic paraplegia 7 | 607259 | C1846564 | OMIM | 1 | | 778 | 11237 | 602783 |
HP:0003581 | HP:0003581 | Adult onset | 0 | STIM1 CL E G H | 6786 | 160565 | Myopathy with tubular aggregates | 160565 | C0410207 | OMIM | 1 | | 522 | 11386 | 605921 |
HP:0003581 | HP:0003581 | Adult onset | 0 | SYNE1 CL E G H | 23345 | 610743 | Spinocerebellar ataxia, autosomal recessive 8 | 610743 | C1853116 | OMIM | 1 | | 4598 | 17089 | 608441 |
HP:0003581 | HP:0003581 | Adult onset | 0 | TAF1 CL E G H | 6872 | 314250 | Dystonia 3, torsion, X-linked | 314250 | C1839130 | OMIM | 1 | | 345 | 11535 | 313650 |
HP:0003581 | HP:0003581 | Adult onset | 0 | TBK1 CL E G H | 29110 | 616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 616439 | C4225325 | OMIM | 1 | | 294 | 11584 | 604834 |
HP:0003581 | HP:0003581 | Adult onset | 0 | TFG CL E G H | 10342 | 604484 | Neuropathy, hereditary motor and sensory, Okinawa type | 604484 | C1858338 | OMIM | 1 | | 307 | 11758 | 602498 |
HP:0003581 | HP:0003581 | Adult onset | 0 | TGM6 CL E G H | 343641 | 613908 | Spinocerebellar ataxia 35 | 613908 | C3888031 | OMIM | 1 | | 289 | 16255 | 613900 |
HP:0003581 | HP:0003581 | Adult onset | 0 | TIA1 CL E G H | 7072 | 604454 | Welander distal myopathy | 604454 | C0221054 | OMIM | 1 | | 190 | 11802 | 603518 |
HP:0003581 | HP:0003581 | Adult onset | 0 | TMEM43 CL E G H | 79188 | 614302 | Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 614302 | C3553060 | OMIM | 1 | | 740 | 28472 | 612048 |
HP:0003581 | HP:0003581 | Adult onset | 0 | TNFRSF13C CL E G H | 115650 | 613494 | Common variable immunodeficiency 4 | 613494 | C3150739 | OMIM | 1 | | 138 | 17755 | 606269 |
HP:0003581 | HP:0003581 | Adult onset | 0 | TNPO3 CL E G H | 23534 | 608423 | Limb-girdle muscular dystrophy, type 1F | 608423 | C1842062 | OMIM | 1 | | 437 | 17103 | 610032 |
HP:0003581 | HP:0003581 | Adult onset | 0 | TOP3A CL E G H | 7156 | 618098 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 | 618098 | CN253818 | OMIM | 1 | | 199 | 11992 | 601243 |
HP:0003581 | HP:0003581 | Adult onset | 0 | TREX1 CL E G H | 11277 | 192315 | Vasculopathy, retinal, with cerebral leukodystrophy | 192315 | C1860518 | OMIM | 1 | | 327 | 12269 | 606609 |
HP:0003581 | HP:0003581 | Adult onset | 0 | TRPC3 CL E G H | 7222 | 616410 | Spinocerebellar ataxia 41 | 616410 | C4225158 | OMIM | 1 | | 44 | 12335 | 602345 |
HP:0003581 | HP:0003581 | Adult onset | 0 | TSC1 CL E G H | 7248 | 607341 | Focal cortical dysplasia type II | 607341 | C1846385 | OMIM | 1 | | 3690 | 12362 | 605284 |
HP:0003581 | HP:0003581 | Adult onset | 0 | TSC2 CL E G H | 7249 | 607341 | Focal cortical dysplasia type II | 607341 | C1846385 | OMIM | 1 | | 8495 | 12363 | 191092 |
HP:0003581 | HP:0003581 | Adult onset | 0 | TTBK2 CL E G H | 146057 | 604432 | Spinocerebellar ataxia 11 | 604432 | C1858351 | OMIM | 1 | | 234 | 19141 | 611695 |
HP:0003581 | HP:0003581 | Adult onset | 0 | TTN CL E G H | 7273 | 600334 | Distal myopathy Markesbery-Griggs type | 600334 | C1838244 | OMIM | 1 | | 22859 | 12403 | 188840 |
HP:0003581 | HP:0003581 | Adult onset | 0 | TTR CL E G H | 7276 | 105210 | Amyloidogenic transthyretin amyloidosis | 105210 | C2751492 | OMIM | 1 | | 341 | 12405 | 176300 |
HP:0003581 | HP:0003581 | Adult onset | 0 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 1 | | 308 | 1160 | 606075 |
HP:0003581 | HP:0003581 | Adult onset | 0 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 308 | 1160 | 606075 |
HP:0003581 | HP:0003581 | Adult onset | 0 | UBQLN2 CL E G H | 29978 | 300857 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 300857 | C3275459 | OMIM | 1 | | 223 | 12509 | 300264 |
HP:0003581 | HP:0003581 | Adult onset | 0 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 390 | 23595 | 608877 |
HP:0003581 | HP:0003581 | Adult onset | 0 | WASHC5 CL E G H | 9897 | 603563 | Spastic paraplegia 8 | 603563 | C1863704 | OMIM | 1 | | 527 | 28984 | 610657 |
HP:0003581 | HP:0003581 | Adult onset | 0 | XPR1 CL E G H | 9213 | 616413 | Basal ganglia calcification, idiopathic, 6 | 616413 | C4225335 | OMIM | 1 | | 167 | 12827 | 605237 |
HP:0003581 | HP:0003581 | Adult onset | 0 | ZNF687 CL E G H | 57592 | 616833 | Paget disease of bone 6 | 616833 | C4085250 | OMIM | 1 | | 50 | 29277 | 610568 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | ADRA2B CL E G H | 151 | 607876 | Epilepsy, familial adult myoclonic 2 | 607876 | C1842852 | OMIM | 1 | | 80 | 282 | 104260 |
HP:0003581 | HP:0003584 | Late onset | 1 | ADRA2B CL E G H | 151 | 607876 | Epilepsy, familial adult myoclonic 2 | 607876 | C1842852 | OMIM | 1 | | 80 | 282 | 104260 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | ADRA2B CL E G H | 151 | 607876 | Epilepsy, familial adult myoclonic 2 | 607876 | C1842852 | OMIM | 1 | | 80 | 282 | 104260 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | AKT1 CL E G H | 207 | 615109 | Cowden syndrome 6 | 615109 | C3554519 | OMIM | 1 | | 634 | 391 | 164730 |
HP:0003581 | HP:0003584 | Late onset | 1 | AKT1 CL E G H | 207 | 615109 | Cowden syndrome 6 | 615109 | C3554519 | OMIM | 1 | | 634 | 391 | 164730 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | AKT1 CL E G H | 207 | 615109 | Cowden syndrome 6 | 615109 | C3554519 | OMIM | 1 | | 634 | 391 | 164730 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | ANKH CL E G H | 56172 | 118600 | Chondrocalcinosis 2 | 118600 | C0856830 | OMIM | 1 | | 457 | 15492 | 605145 |
HP:0003581 | HP:0003584 | Late onset | 1 | ANKH CL E G H | 56172 | 118600 | Chondrocalcinosis 2 | 118600 | C0856830 | OMIM | 1 | | 457 | 15492 | 605145 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | ANKH CL E G H | 56172 | 118600 | Chondrocalcinosis 2 | 118600 | C0856830 | OMIM | 1 | | 457 | 15492 | 605145 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | ANO5 CL E G H | 203859 | 613319 | Miyoshi muscular dystrophy 3 | 613319 | C2750076 | OMIM | 1 | | 972 | 27337 | 608662 |
HP:0003581 | HP:0003584 | Late onset | 1 | ANO5 CL E G H | 203859 | 613319 | Miyoshi muscular dystrophy 3 | 613319 | C2750076 | OMIM | 1 | | 972 | 27337 | 608662 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | ANO5 CL E G H | 203859 | 613319 | Miyoshi muscular dystrophy 3 | 613319 | C2750076 | OMIM | 1 | | 972 | 27337 | 608662 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0003581 | HP:0003584 | Late onset | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 556 | 644 | 313700 |
HP:0003581 | HP:0003584 | Late onset | 1 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 556 | 644 | 313700 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 556 | 644 | 313700 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | ARHGEF10 CL E G H | 9639 | 608236 | Slowed nerve conduction velocity, autosomal dominant | 608236 | C1842357 | OMIM | 1 | | 511 | 14103 | 608136 |
HP:0003581 | HP:0003584 | Late onset | 1 | ARHGEF10 CL E G H | 9639 | 608236 | Slowed nerve conduction velocity, autosomal dominant | 608236 | C1842357 | OMIM | 1 | | 511 | 14103 | 608136 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | ARHGEF10 CL E G H | 9639 | 608236 | Slowed nerve conduction velocity, autosomal dominant | 608236 | C1842357 | OMIM | 1 | | 511 | 14103 | 608136 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | ATL1 CL E G H | 51062 | 613708 | Hereditary sensory neuropathy type 1D | 613708 | C3150972 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0003581 | HP:0003584 | Late onset | 1 | ATL1 CL E G H | 51062 | 613708 | Hereditary sensory neuropathy type 1D | 613708 | C3150972 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | ATL1 CL E G H | 51062 | 613708 | Hereditary sensory neuropathy type 1D | 613708 | C3150972 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0003581 | HP:0003584 | Late onset | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 173 | 28337 | 614260 |
HP:0003581 | HP:0003584 | Late onset | 1 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 173 | 28337 | 614260 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 173 | 28337 | 614260 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 469 | 1389 | 601012 |
HP:0003581 | HP:0003584 | Late onset | 1 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 469 | 1389 | 601012 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 469 | 1389 | 601012 |
HP:0003581 | HP:0003584 | Late onset | 1 | CAPN3 CL E G H | 825 | 618129 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 | 618129 | CN253839 | OMIM | 1 | | 1288 | 1480 | 114240 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | CAPN3 CL E G H | 825 | 618129 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 | 618129 | CN253839 | OMIM | 1 | | 1288 | 1480 | 114240 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | CAPN3 CL E G H | 825 | 618129 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 | 618129 | CN253839 | OMIM | 1 | | 1288 | 1480 | 114240 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0003581 | HP:0003584 | Late onset | 1 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | CCDC88C CL E G H | 440193 | 616053 | Spinocerebellar ataxia 40 | 616053 | CN252333 | OMIM | 1 | | 279 | 19967 | 611204 |
HP:0003581 | HP:0003584 | Late onset | 1 | CCDC88C CL E G H | 440193 | 616053 | Spinocerebellar ataxia 40 | 616053 | CN252333 | OMIM | 1 | | 279 | 19967 | 611204 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | CCDC88C CL E G H | 440193 | 616053 | Spinocerebellar ataxia 40 | 616053 | CN252333 | OMIM | 1 | | 279 | 19967 | 611204 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0003581 | HP:0003584 | Late onset | 1 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 553 | 2077 | 606725 |
HP:0003581 | HP:0003584 | Late onset | 1 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 553 | 2077 | 606725 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 553 | 2077 | 606725 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | CPT1C CL E G H | 126129 | 616282 | Spastic paraplegia 73, autosomal dominant | 616282 | C4225387 | OMIM | 1 | | 133 | 18540 | 608846 |
HP:0003581 | HP:0003584 | Late onset | 1 | CPT1C CL E G H | 126129 | 616282 | Spastic paraplegia 73, autosomal dominant | 616282 | C4225387 | OMIM | 1 | | 133 | 18540 | 608846 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | CPT1C CL E G H | 126129 | 616282 | Spastic paraplegia 73, autosomal dominant | 616282 | C4225387 | OMIM | 1 | | 133 | 18540 | 608846 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | CRYAB CL E G H | 1410 | 608810 | Alpha-B crystallinopathy | 608810 | C1837317 | OMIM | 1 | | 230 | 2389 | 123590 |
HP:0003581 | HP:0003584 | Late onset | 1 | CRYAB CL E G H | 1410 | 608810 | Alpha-B crystallinopathy | 608810 | C1837317 | OMIM | 1 | | 230 | 2389 | 123590 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | CRYAB CL E G H | 1410 | 608810 | Alpha-B crystallinopathy | 608810 | C1837317 | OMIM | 1 | | 230 | 2389 | 123590 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | CSF1R CL E G H | 1436 | 221820 | Hereditary diffuse leukoencephalopathy with spheroids | 221820 | C3711381 | OMIM | 1 | | 518 | 2433 | 164770 |
HP:0003581 | HP:0003584 | Late onset | 1 | CSF1R CL E G H | 1436 | 221820 | Hereditary diffuse leukoencephalopathy with spheroids | 221820 | C3711381 | OMIM | 1 | | 518 | 2433 | 164770 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | CSF1R CL E G H | 1436 | 221820 | Hereditary diffuse leukoencephalopathy with spheroids | 221820 | C3711381 | OMIM | 1 | | 518 | 2433 | 164770 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 182 | 2531 | 603539 |
HP:0003581 | HP:0003584 | Late onset | 1 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 182 | 2531 | 603539 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 182 | 2531 | 603539 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | CYLD CL E G H | 1540 | 132700 | Cylindromatosis, familial | 132700 | C1851526 | OMIM | 1 | | 252 | 2584 | 605018 |
HP:0003581 | HP:0003584 | Late onset | 1 | CYLD CL E G H | 1540 | 132700 | Cylindromatosis, familial | 132700 | C1851526 | OMIM | 1 | | 252 | 2584 | 605018 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | CYLD CL E G H | 1540 | 132700 | Cylindromatosis, familial | 132700 | C1851526 | OMIM | 1 | | 252 | 2584 | 605018 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | CYLD CL E G H | 1540 | 601606 | Familial multiple trichoepitheliomata | 601606 | C1275122 | OMIM | 1 | | 252 | 2584 | 605018 |
HP:0003581 | HP:0003584 | Late onset | 1 | CYLD CL E G H | 1540 | 601606 | Familial multiple trichoepitheliomata | 601606 | C1275122 | OMIM | 1 | | 252 | 2584 | 605018 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | CYLD CL E G H | 1540 | 601606 | Familial multiple trichoepitheliomata | 601606 | C1275122 | OMIM | 1 | | 252 | 2584 | 605018 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | CYLD CL E G H | 1540 | 605041 | Spiegler-Brooke syndrome | 605041 | C1857941 | OMIM | 1 | | 252 | 2584 | 605018 |
HP:0003581 | HP:0003584 | Late onset | 1 | CYLD CL E G H | 1540 | 605041 | Spiegler-Brooke syndrome | 605041 | C1857941 | OMIM | 1 | | 252 | 2584 | 605018 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | CYLD CL E G H | 1540 | 605041 | Spiegler-Brooke syndrome | 605041 | C1857941 | OMIM | 1 | | 252 | 2584 | 605018 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0003581 | HP:0003584 | Late onset | 1 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 167 | 2858 | 601465 |
HP:0003581 | HP:0003584 | Late onset | 1 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 167 | 2858 | 601465 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 167 | 2858 | 601465 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | DMD CL E G H | 1756 | 300376 | Becker muscular dystrophy | 300376 | C0917713 | OMIM | 1 | | 7370 | 2928 | 300377 |
HP:0003581 | HP:0003584 | Late onset | 1 | DMD CL E G H | 1756 | 300376 | Becker muscular dystrophy | 300376 | C0917713 | OMIM | 1 | | 7370 | 2928 | 300377 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | DMD CL E G H | 1756 | 300376 | Becker muscular dystrophy | 300376 | C0917713 | OMIM | 1 | | 7370 | 2928 | 300377 |
HP:0003581 | HP:0003584 | Late onset | 1 | DNAJB11 CL E G H | 51726 | 618061 | POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | 618061 | CN252647 | OMIM | 1 | | 111 | 14889 | 611341 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | DNAJB11 CL E G H | 51726 | 618061 | POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | 618061 | CN252647 | OMIM | 1 | | 111 | 14889 | 611341 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | DNAJB11 CL E G H | 51726 | 618061 | POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | 618061 | CN252647 | OMIM | 1 | | 111 | 14889 | 611341 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 1 | | 411 | 14888 | 611332 |
HP:0003581 | HP:0003584 | Late onset | 1 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 1 | | 411 | 14888 | 611332 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 1 | | 411 | 14888 | 611332 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 393 | 16235 | 611203 |
HP:0003581 | HP:0003584 | Late onset | 1 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 393 | 16235 | 611203 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 393 | 16235 | 611203 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | DNMT1 CL E G H | 1786 | 604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | 604121 | C1858804 | OMIM | 1 | | 995 | 2976 | 126375 |
HP:0003581 | HP:0003584 | Late onset | 1 | DNMT1 CL E G H | 1786 | 604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | 604121 | C1858804 | OMIM | 1 | | 995 | 2976 | 126375 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | DNMT1 CL E G H | 1786 | 604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | 604121 | C1858804 | OMIM | 1 | | 995 | 2976 | 126375 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | DPM3 CL E G H | 54344 | 612937 | Congenital disorder of glycosylation type 1O | 612937 | C2752007 | OMIM | 1 | | 60 | 3007 | 605951 |
HP:0003581 | HP:0003584 | Late onset | 1 | DPM3 CL E G H | 54344 | 612937 | Congenital disorder of glycosylation type 1O | 612937 | C2752007 | OMIM | 1 | | 60 | 3007 | 605951 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | DPM3 CL E G H | 54344 | 612937 | Congenital disorder of glycosylation type 1O | 612937 | C2752007 | OMIM | 1 | | 60 | 3007 | 605951 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | | 2736 | 3097 | 603009 |
HP:0003581 | HP:0003584 | Late onset | 1 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | | 2736 | 3097 | 603009 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | | 2736 | 3097 | 603009 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | EEF2 CL E G H | 1938 | 609306 | Spinocerebellar ataxia 26 | 609306 | C1836395 | OMIM | 1 | | 204 | 3214 | 130610 |
HP:0003581 | HP:0003584 | Late onset | 1 | EEF2 CL E G H | 1938 | 609306 | Spinocerebellar ataxia 26 | 609306 | C1836395 | OMIM | 1 | | 204 | 3214 | 130610 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | EEF2 CL E G H | 1938 | 609306 | Spinocerebellar ataxia 26 | 609306 | C1836395 | OMIM | 1 | | 204 | 3214 | 130610 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | ENO3 CL E G H | 2027 | 612932 | Glycogen storage disease type 13 | 612932 | C2752027 | OMIM | 1 | | 175 | 3354 | 131370 |
HP:0003581 | HP:0003584 | Late onset | 1 | ENO3 CL E G H | 2027 | 612932 | Glycogen storage disease type 13 | 612932 | C2752027 | OMIM | 1 | | 175 | 3354 | 131370 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | ENO3 CL E G H | 2027 | 612932 | Glycogen storage disease type 13 | 612932 | C2752027 | OMIM | 1 | | 175 | 3354 | 131370 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | ERBB4 CL E G H | 2066 | 615515 | Amyotrophic lateral sclerosis 19 | 615515 | C3715155 | OMIM | 1 | | 321 | 3432 | 600543 |
HP:0003581 | HP:0003584 | Late onset | 1 | ERBB4 CL E G H | 2066 | 615515 | Amyotrophic lateral sclerosis 19 | 615515 | C3715155 | OMIM | 1 | | 321 | 3432 | 600543 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | ERBB4 CL E G H | 2066 | 615515 | Amyotrophic lateral sclerosis 19 | 615515 | C3715155 | OMIM | 1 | | 321 | 3432 | 600543 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | F5 CL E G H | 2153 | 188055 | Thrombophilia due to activated protein C resistance | 188055 | C1861171 | OMIM | 1 | | 513 | 3542 | 612309 |
HP:0003581 | HP:0003584 | Late onset | 1 | F5 CL E G H | 2153 | 188055 | Thrombophilia due to activated protein C resistance | 188055 | C1861171 | OMIM | 1 | | 513 | 3542 | 612309 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | F5 CL E G H | 2153 | 188055 | Thrombophilia due to activated protein C resistance | 188055 | C1861171 | OMIM | 1 | | 513 | 3542 | 612309 |
HP:0003581 | HP:0003584 | Late onset | 1 | FAT2 CL E G H | 2196 | 617769 | SPINOCEREBELLAR ATAXIA 45 | 617769 | C4540400 | OMIM | 1 | | 188 | 3596 | 604269 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | FAT2 CL E G H | 2196 | 617769 | SPINOCEREBELLAR ATAXIA 45 | 617769 | C4540400 | OMIM | 1 | | 188 | 3596 | 604269 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | FAT2 CL E G H | 2196 | 617769 | SPINOCEREBELLAR ATAXIA 45 | 617769 | C4540400 | OMIM | 1 | | 188 | 3596 | 604269 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | FHL1 CL E G H | 2273 | 300695 | Scapuloperoneal myopathy, X-linked dominant | 300695 | C2678061 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0003581 | HP:0003584 | Late onset | 1 | FHL1 CL E G H | 2273 | 300695 | Scapuloperoneal myopathy, X-linked dominant | 300695 | C2678061 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | FHL1 CL E G H | 2273 | 300695 | Scapuloperoneal myopathy, X-linked dominant | 300695 | C2678061 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | FLNC CL E G H | 2318 | 609524 | Myofibrillar myopathy, filamin C-related | 609524 | C1836050 | OMIM | 1 | | 3455 | 3756 | 102565 |
HP:0003581 | HP:0003584 | Late onset | 1 | FLNC CL E G H | 2318 | 609524 | Myofibrillar myopathy, filamin C-related | 609524 | C1836050 | OMIM | 1 | | 3455 | 3756 | 102565 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | FLNC CL E G H | 2318 | 609524 | Myofibrillar myopathy, filamin C-related | 609524 | C1836050 | OMIM | 1 | | 3455 | 3756 | 102565 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 338 | 3775 | 309550 |
HP:0003581 | HP:0003584 | Late onset | 1 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 338 | 3775 | 309550 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 338 | 3775 | 309550 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0003581 | HP:0003584 | Late onset | 1 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | GBE1 CL E G H | 2632 | 263570 | Polyglucosan body disease, adult | 263570 | C1849722 | OMIM | 1 | | 600 | 4180 | 607839 |
HP:0003581 | HP:0003584 | Late onset | 1 | GBE1 CL E G H | 2632 | 263570 | Polyglucosan body disease, adult | 263570 | C1849722 | OMIM | 1 | | 600 | 4180 | 607839 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | GBE1 CL E G H | 2632 | 263570 | Polyglucosan body disease, adult | 263570 | C1849722 | OMIM | 1 | | 600 | 4180 | 607839 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0003581 | HP:0003584 | Late onset | 1 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 783 | 23657 | 603824 |
HP:0003581 | HP:0003584 | Late onset | 1 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 783 | 23657 | 603824 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 783 | 23657 | 603824 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | GSN CL E G H | 2934 | 105120 | Meretoja syndrome | 105120 | C1622345 | OMIM | 1 | | 412 | 4620 | 137350 |
HP:0003581 | HP:0003584 | Late onset | 1 | GSN CL E G H | 2934 | 105120 | Meretoja syndrome | 105120 | C1622345 | OMIM | 1 | | 412 | 4620 | 137350 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | GSN CL E G H | 2934 | 105120 | Meretoja syndrome | 105120 | C1622345 | OMIM | 1 | | 412 | 4620 | 137350 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | HNRNPDL CL E G H | 9987 | 609115 | Limb-girdle muscular dystrophy, type 1G | 609115 | C1836765 | OMIM | 1 | | 248 | 5037 | 607137 |
HP:0003581 | HP:0003584 | Late onset | 1 | HNRNPDL CL E G H | 9987 | 609115 | Limb-girdle muscular dystrophy, type 1G | 609115 | C1836765 | OMIM | 1 | | 248 | 5037 | 607137 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | HNRNPDL CL E G H | 9987 | 609115 | Limb-girdle muscular dystrophy, type 1G | 609115 | C1836765 | OMIM | 1 | | 248 | 5037 | 607137 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | HSPB1 CL E G H | 3315 | 608634 | Distal hereditary motor neuronopathy type 2B | 608634 | C2608087 | OMIM | 1 | | 329 | 5246 | 602195 |
HP:0003581 | HP:0003584 | Late onset | 1 | HSPB1 CL E G H | 3315 | 608634 | Distal hereditary motor neuronopathy type 2B | 608634 | C2608087 | OMIM | 1 | | 329 | 5246 | 602195 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | HSPB1 CL E G H | 3315 | 608634 | Distal hereditary motor neuronopathy type 2B | 608634 | C2608087 | OMIM | 1 | | 329 | 5246 | 602195 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | ITPR1 CL E G H | 3708 | 606658 | Spinocerebellar ataxia 15 | 606658 | C1847725 | OMIM | 1 | | 1134 | 6180 | 147265 |
HP:0003581 | HP:0003584 | Late onset | 1 | ITPR1 CL E G H | 3708 | 606658 | Spinocerebellar ataxia 15 | 606658 | C1847725 | OMIM | 1 | | 1134 | 6180 | 147265 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | ITPR1 CL E G H | 3708 | 606658 | Spinocerebellar ataxia 15 | 606658 | C1847725 | OMIM | 1 | | 1134 | 6180 | 147265 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | LMNB1 CL E G H | 4001 | 169500 | Leukodystrophy, adult-onset, autosomal dominant | 169500 | C1868512 | OMIM | 1 | | 169 | 6637 | 150340 |
HP:0003581 | HP:0003584 | Late onset | 1 | LMNB1 CL E G H | 4001 | 169500 | Leukodystrophy, adult-onset, autosomal dominant | 169500 | C1868512 | OMIM | 1 | | 169 | 6637 | 150340 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | LMNB1 CL E G H | 4001 | 169500 | Leukodystrophy, adult-onset, autosomal dominant | 169500 | C1868512 | OMIM | 1 | | 169 | 6637 | 150340 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0003581 | HP:0003584 | Late onset | 1 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0003581 | HP:0003584 | Late onset | 1 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 1 | | 333 | 6912 | 164015 |
HP:0003581 | HP:0003584 | Late onset | 1 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 1 | | 333 | 6912 | 164015 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 1 | | 333 | 6912 | 164015 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 525 | 28845 | 610197 |
HP:0003581 | HP:0003584 | Late onset | 1 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 525 | 28845 | 610197 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 525 | 28845 | 610197 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | MME CL E G H | 4311 | 617017 | Charcot-Marie-Tooth disease, axonal, type 2T | 617017 | C4015635 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0003581 | HP:0003584 | Late onset | 1 | MME CL E G H | 4311 | 617017 | Charcot-Marie-Tooth disease, axonal, type 2T | 617017 | C4015635 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | MME CL E G H | 4311 | 617017 | Charcot-Marie-Tooth disease, axonal, type 2T | 617017 | C4015635 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0003581 | HP:0003584 | Late onset | 1 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | MN1 CL E G H | 4330 | 607174 | Meningioma, familial | 607174 | C1333989 | OMIM | 1 | | 100 | 7180 | 156100 |
HP:0003581 | HP:0003584 | Late onset | 1 | MN1 CL E G H | 4330 | 607174 | Meningioma, familial | 607174 | C1333989 | OMIM | 1 | | 100 | 7180 | 156100 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | MN1 CL E G H | 4330 | 607174 | Meningioma, familial | 607174 | C1333989 | OMIM | 1 | | 100 | 7180 | 156100 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | MTOR CL E G H | 2475 | 607341 | Focal cortical dysplasia type II | 607341 | C1846385 | OMIM | 1 | | 1671 | 3942 | 601231 |
HP:0003581 | HP:0003584 | Late onset | 1 | MTOR CL E G H | 2475 | 607341 | Focal cortical dysplasia type II | 607341 | C1846385 | OMIM | 1 | | 1671 | 3942 | 601231 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | MTOR CL E G H | 2475 | 607341 | Focal cortical dysplasia type II | 607341 | C1846385 | OMIM | 1 | | 1671 | 3942 | 601231 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | MUC1 CL E G H | 4582 | 174000 | Medullary cystic kidney disease 1 | 174000 | C1868139 | OMIM | 1 | | 25 | 7508 | 158340 |
HP:0003581 | HP:0003584 | Late onset | 1 | MUC1 CL E G H | 4582 | 174000 | Medullary cystic kidney disease 1 | 174000 | C1868139 | OMIM | 1 | | 25 | 7508 | 158340 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | MUC1 CL E G H | 4582 | 174000 | Medullary cystic kidney disease 1 | 174000 | C1868139 | OMIM | 1 | | 25 | 7508 | 158340 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | MYOT CL E G H | 9499 | 609200 | Myotilinopathy | 609200 | C1836607 | OMIM | 1 | | 295 | 12399 | 604103 |
HP:0003581 | HP:0003584 | Late onset | 1 | MYOT CL E G H | 9499 | 609200 | Myotilinopathy | 609200 | C1836607 | OMIM | 1 | | 295 | 12399 | 604103 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | MYOT CL E G H | 9499 | 609200 | Myotilinopathy | 609200 | C1836607 | OMIM | 1 | | 295 | 12399 | 604103 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | NAGA CL E G H | 4668 | 609242 | Kanzaki disease | 609242 | C1836522 | OMIM | 1 | | 183 | 7631 | 104170 |
HP:0003581 | HP:0003584 | Late onset | 1 | NAGA CL E G H | 4668 | 609242 | Kanzaki disease | 609242 | C1836522 | OMIM | 1 | | 183 | 7631 | 104170 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | NAGA CL E G H | 4668 | 609242 | Kanzaki disease | 609242 | C1836522 | OMIM | 1 | | 183 | 7631 | 104170 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | NF2 CL E G H | 4771 | 607174 | Meningioma, familial | 607174 | C1333989 | OMIM | 1 | | 1518 | 7773 | 607379 |
HP:0003581 | HP:0003584 | Late onset | 1 | NF2 CL E G H | 4771 | 607174 | Meningioma, familial | 607174 | C1333989 | OMIM | 1 | | 1518 | 7773 | 607379 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | NF2 CL E G H | 4771 | 607174 | Meningioma, familial | 607174 | C1333989 | OMIM | 1 | | 1518 | 7773 | 607379 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | NOL3 CL E G H | 8996 | 614937 | Myoclonus, familial cortical | 614937 | C3539916 | OMIM | 1 | | 43 | 7869 | 605235 |
HP:0003581 | HP:0003584 | Late onset | 1 | NOL3 CL E G H | 8996 | 614937 | Myoclonus, familial cortical | 614937 | C3539916 | OMIM | 1 | | 43 | 7869 | 605235 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | NOL3 CL E G H | 8996 | 614937 | Myoclonus, familial cortical | 614937 | C3539916 | OMIM | 1 | | 43 | 7869 | 605235 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | NOTCH3 CL E G H | 4854 | 125310 | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | 125310 | C0751587 | OMIM | 1 | | 1133 | 7883 | 600276 |
HP:0003581 | HP:0003584 | Late onset | 1 | NOTCH3 CL E G H | 4854 | 125310 | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | 125310 | C0751587 | OMIM | 1 | | 1133 | 7883 | 600276 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | NOTCH3 CL E G H | 4854 | 125310 | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | 125310 | C0751587 | OMIM | 1 | | 1133 | 7883 | 600276 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | OSMR CL E G H | 9180 | 105250 | Primary localized cutaneous amyloidosis 1 | 105250 | C0268398 | OMIM | 1 | | 58 | 8507 | 601743 |
HP:0003581 | HP:0003584 | Late onset | 1 | OSMR CL E G H | 9180 | 105250 | Primary localized cutaneous amyloidosis 1 | 105250 | C0268398 | OMIM | 1 | | 58 | 8507 | 601743 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | OSMR CL E G H | 9180 | 105250 | Primary localized cutaneous amyloidosis 1 | 105250 | C0268398 | OMIM | 1 | | 58 | 8507 | 601743 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 63 | 8565 | 602279 |
HP:0003581 | HP:0003584 | Late onset | 1 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 63 | 8565 | 602279 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 63 | 8565 | 602279 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | PARK7 CL E G H | 11315 | 606324 | Parkinson disease 7 | 606324 | C1853445 | OMIM | 1 | | 160 | 16369 | 602533 |
HP:0003581 | HP:0003584 | Late onset | 1 | PARK7 CL E G H | 11315 | 606324 | Parkinson disease 7 | 606324 | C1853445 | OMIM | 1 | | 160 | 16369 | 602533 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | PARK7 CL E G H | 11315 | 606324 | Parkinson disease 7 | 606324 | C1853445 | OMIM | 1 | | 160 | 16369 | 602533 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | PARN CL E G H | 5073 | 616371 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 | 616371 | C4225347 | OMIM | 1 | | 443 | 8609 | 604212 |
HP:0003581 | HP:0003584 | Late onset | 1 | PARN CL E G H | 5073 | 616371 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 | 616371 | C4225347 | OMIM | 1 | | 443 | 8609 | 604212 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | PARN CL E G H | 5073 | 616371 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 | 616371 | C4225347 | OMIM | 1 | | 443 | 8609 | 604212 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0003581 | HP:0003584 | Late onset | 1 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | PDGFB CL E G H | 5155 | 607174 | Meningioma, familial | 607174 | C1333989 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0003581 | HP:0003584 | Late onset | 1 | PDGFB CL E G H | 5155 | 607174 | Meningioma, familial | 607174 | C1333989 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | PDGFB CL E G H | 5155 | 607174 | Meningioma, familial | 607174 | C1333989 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 345 | 8804 | 173410 |
HP:0003581 | HP:0003584 | Late onset | 1 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 345 | 8804 | 173410 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 345 | 8804 | 173410 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | PIK3CA CL E G H | 5290 | 615108 | Cowden syndrome 5 | 615108 | C3554518 | OMIM | 1 | | 975 | 8975 | 171834 |
HP:0003581 | HP:0003584 | Late onset | 1 | PIK3CA CL E G H | 5290 | 615108 | Cowden syndrome 5 | 615108 | C3554518 | OMIM | 1 | | 975 | 8975 | 171834 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | PIK3CA CL E G H | 5290 | 615108 | Cowden syndrome 5 | 615108 | C3554518 | OMIM | 1 | | 975 | 8975 | 171834 |
HP:0003581 | HP:0003584 | Late onset | 1 | PLD3 CL E G H | 23646 | 617770 | SPINOCEREBELLAR ATAXIA 46 | 617770 | C4540404 | OMIM | 1 | | 22 | 17158 | 615698 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | PLD3 CL E G H | 23646 | 617770 | SPINOCEREBELLAR ATAXIA 46 | 617770 | C4540404 | OMIM | 1 | | 22 | 17158 | 615698 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | PLD3 CL E G H | 23646 | 617770 | SPINOCEREBELLAR ATAXIA 46 | 617770 | C4540404 | OMIM | 1 | | 22 | 17158 | 615698 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 1 | | 443 | 30802 | 609059 |
HP:0003581 | HP:0003584 | Late onset | 1 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 1 | | 443 | 30802 | 609059 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 1 | | 443 | 30802 | 609059 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0003581 | HP:0003584 | Late onset | 1 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0003581 | HP:0003584 | Late onset | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0003581 | HP:0003584 | Late onset | 1 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | POLG2 CL E G H | 11232 | 610131 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 | 610131 | C1864668 | OMIM | 1 | | 240 | 9180 | 604983 |
HP:0003581 | HP:0003584 | Late onset | 1 | POLG2 CL E G H | 11232 | 610131 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 | 610131 | C1864668 | OMIM | 1 | | 240 | 9180 | 604983 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | POLG2 CL E G H | 11232 | 610131 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 | 610131 | C1864668 | OMIM | 1 | | 240 | 9180 | 604983 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | PRKCSH CL E G H | 5589 | 174050 | Polycystic liver disease 1 | 174050 | C4310613 | OMIM | 1 | | 211 | 9411 | 177060 |
HP:0003581 | HP:0003584 | Late onset | 1 | PRKCSH CL E G H | 5589 | 174050 | Polycystic liver disease 1 | 174050 | C4310613 | OMIM | 1 | | 211 | 9411 | 177060 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | PRKCSH CL E G H | 5589 | 174050 | Polycystic liver disease 1 | 174050 | C4310613 | OMIM | 1 | | 211 | 9411 | 177060 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | PRKN CL E G H | 5071 | 600116 | Parkinson disease 2 | 600116 | C1868675 | OMIM | 1 | | 655 | 8607 | 602544 |
HP:0003581 | HP:0003584 | Late onset | 1 | PRKN CL E G H | 5071 | 600116 | Parkinson disease 2 | 600116 | C1868675 | OMIM | 1 | | 655 | 8607 | 602544 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | PRKN CL E G H | 5071 | 600116 | Parkinson disease 2 | 600116 | C1868675 | OMIM | 1 | | 655 | 8607 | 602544 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0003581 | HP:0003584 | Late onset | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0003581 | HP:0003584 | Late onset | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 452 | 9508 | 104311 |
HP:0003581 | HP:0003584 | Late onset | 1 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 452 | 9508 | 104311 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 452 | 9508 | 104311 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | PTEN CL E G H | 5728 | 158350 | Cowden syndrome 1 | 158350 | CN072330 | OMIM | 1 | | 2750 | 9588 | 601728 |
HP:0003581 | HP:0003584 | Late onset | 1 | PTEN CL E G H | 5728 | 158350 | Cowden syndrome 1 | 158350 | CN072330 | OMIM | 1 | | 2750 | 9588 | 601728 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | PTEN CL E G H | 5728 | 158350 | Cowden syndrome 1 | 158350 | CN072330 | OMIM | 1 | | 2750 | 9588 | 601728 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | RNF170 CL E G H | 81790 | 608984 | Ataxia, sensory, autosomal dominant | 608984 | C1837015 | OMIM | 1 | | 68 | 25358 | 614649 |
HP:0003581 | HP:0003584 | Late onset | 1 | RNF170 CL E G H | 81790 | 608984 | Ataxia, sensory, autosomal dominant | 608984 | C1837015 | OMIM | 1 | | 68 | 25358 | 614649 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | RNF170 CL E G H | 81790 | 608984 | Ataxia, sensory, autosomal dominant | 608984 | C1837015 | OMIM | 1 | | 68 | 25358 | 614649 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | RTEL1 CL E G H | 51750 | 616373 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 | 616373 | C4225346 | OMIM | 1 | | 2005 | 15888 | 608833 |
HP:0003581 | HP:0003584 | Late onset | 1 | RTEL1 CL E G H | 51750 | 616373 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 | 616373 | C4225346 | OMIM | 1 | | 2005 | 15888 | 608833 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | RTEL1 CL E G H | 51750 | 616373 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 | 616373 | C4225346 | OMIM | 1 | | 2005 | 15888 | 608833 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | SAMD12 CL E G H | 401474 | 601068 | Epilepsy, familial adult myoclonic, 1 | 601068 | C1832841 | OMIM | 1 | | 62 | 31750 | 618073 |
HP:0003581 | HP:0003584 | Late onset | 1 | SAMD12 CL E G H | 401474 | 601068 | Epilepsy, familial adult myoclonic, 1 | 601068 | C1832841 | OMIM | 1 | | 62 | 31750 | 618073 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | SAMD12 CL E G H | 401474 | 601068 | Epilepsy, familial adult myoclonic, 1 | 601068 | C1832841 | OMIM | 1 | | 62 | 31750 | 618073 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | SCN10A CL E G H | 6336 | 615551 | Episodic pain syndrome, familial, 2 | 615551 | C3809893 | OMIM | 1 | | 1539 | 10582 | 604427 |
HP:0003581 | HP:0003584 | Late onset | 1 | SCN10A CL E G H | 6336 | 615551 | Episodic pain syndrome, familial, 2 | 615551 | C3809893 | OMIM | 1 | | 1539 | 10582 | 604427 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | SCN10A CL E G H | 6336 | 615551 | Episodic pain syndrome, familial, 2 | 615551 | C3809893 | OMIM | 1 | | 1539 | 10582 | 604427 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | SDHAF2 CL E G H | 54949 | 601650 | Paragangliomas 2 | 601650 | C1866552 | OMIM | 1 | | 412 | 26034 | 613019 |
HP:0003581 | HP:0003584 | Late onset | 1 | SDHAF2 CL E G H | 54949 | 601650 | Paragangliomas 2 | 601650 | C1866552 | OMIM | 1 | | 412 | 26034 | 613019 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | SDHAF2 CL E G H | 54949 | 601650 | Paragangliomas 2 | 601650 | C1866552 | OMIM | 1 | | 412 | 26034 | 613019 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | SDHB CL E G H | 6390 | 115310 | Paragangliomas 4 | 115310 | C1861848 | OMIM | 1 | | 1099 | 10681 | 185470 |
HP:0003581 | HP:0003584 | Late onset | 1 | SDHB CL E G H | 6390 | 115310 | Paragangliomas 4 | 115310 | C1861848 | OMIM | 1 | | 1099 | 10681 | 185470 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | SDHB CL E G H | 6390 | 115310 | Paragangliomas 4 | 115310 | C1861848 | OMIM | 1 | | 1099 | 10681 | 185470 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | SDHC CL E G H | 6391 | 605373 | Paragangliomas 3 | 605373 | C1854336 | OMIM | 1 | | 702 | 10682 | 602413 |
HP:0003581 | HP:0003584 | Late onset | 1 | SDHC CL E G H | 6391 | 605373 | Paragangliomas 3 | 605373 | C1854336 | OMIM | 1 | | 702 | 10682 | 602413 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | SDHC CL E G H | 6391 | 605373 | Paragangliomas 3 | 605373 | C1854336 | OMIM | 1 | | 702 | 10682 | 602413 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | SDHD CL E G H | 6392 | 168000 | Paragangliomas 1 | 168000 | C1868633 | OMIM | 1 | | 607 | 10683 | 602690 |
HP:0003581 | HP:0003584 | Late onset | 1 | SDHD CL E G H | 6392 | 168000 | Paragangliomas 1 | 168000 | C1868633 | OMIM | 1 | | 607 | 10683 | 602690 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | SDHD CL E G H | 6392 | 168000 | Paragangliomas 1 | 168000 | C1868633 | OMIM | 1 | | 607 | 10683 | 602690 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | SEC63 CL E G H | 11231 | 617004 | Polycystic liver disease 2 | 617004 | C4310769 | OMIM | 1 | | 343 | 21082 | 608648 |
HP:0003581 | HP:0003584 | Late onset | 1 | SEC63 CL E G H | 11231 | 617004 | Polycystic liver disease 2 | 617004 | C4310769 | OMIM | 1 | | 343 | 21082 | 608648 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | SEC63 CL E G H | 11231 | 617004 | Polycystic liver disease 2 | 617004 | C4310769 | OMIM | 1 | | 343 | 21082 | 608648 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 281 | 10947 | 158378 |
HP:0003581 | HP:0003584 | Late onset | 1 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 281 | 10947 | 158378 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 281 | 10947 | 158378 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | SLC25A4 CL E G H | 291 | 609283 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | 609283 | C1836460 | OMIM | 1 | | 278 | 10990 | 103220 |
HP:0003581 | HP:0003584 | Late onset | 1 | SLC25A4 CL E G H | 291 | 609283 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | 609283 | C1836460 | OMIM | 1 | | 278 | 10990 | 103220 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | SLC25A4 CL E G H | 291 | 609283 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | 609283 | C1836460 | OMIM | 1 | | 278 | 10990 | 103220 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | SMCHD1 CL E G H | 23347 | 158901 | Facioscapulohumeral muscular dystrophy 2 | 158901 | C1834671 | OMIM | 1 | | 1011 | 29090 | 614982 |
HP:0003581 | HP:0003584 | Late onset | 1 | SMCHD1 CL E G H | 23347 | 158901 | Facioscapulohumeral muscular dystrophy 2 | 158901 | C1834671 | OMIM | 1 | | 1011 | 29090 | 614982 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | SMCHD1 CL E G H | 23347 | 158901 | Facioscapulohumeral muscular dystrophy 2 | 158901 | C1834671 | OMIM | 1 | | 1011 | 29090 | 614982 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | SMN1 CL E G H | 6606 | 271150 | Spinal muscular atrophy type 4 | 271150 | C1838230 | OMIM | 1 | | 208 | 11117 | 600354 |
HP:0003581 | HP:0003584 | Late onset | 1 | SMN1 CL E G H | 6606 | 271150 | Spinal muscular atrophy type 4 | 271150 | C1838230 | OMIM | 1 | | 208 | 11117 | 600354 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | SMN1 CL E G H | 6606 | 271150 | Spinal muscular atrophy type 4 | 271150 | C1838230 | OMIM | 1 | | 208 | 11117 | 600354 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2165 | 11226 | 610844 |
HP:0003581 | HP:0003584 | Late onset | 1 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2165 | 11226 | 610844 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2165 | 11226 | 610844 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | SPG7 CL E G H | 6687 | 607259 | Spastic paraplegia 7 | 607259 | C1846564 | OMIM | 1 | | 778 | 11237 | 602783 |
HP:0003581 | HP:0003584 | Late onset | 1 | SPG7 CL E G H | 6687 | 607259 | Spastic paraplegia 7 | 607259 | C1846564 | OMIM | 1 | | 778 | 11237 | 602783 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | SPG7 CL E G H | 6687 | 607259 | Spastic paraplegia 7 | 607259 | C1846564 | OMIM | 1 | | 778 | 11237 | 602783 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | STIM1 CL E G H | 6786 | 160565 | Myopathy with tubular aggregates | 160565 | C0410207 | OMIM | 1 | | 522 | 11386 | 605921 |
HP:0003581 | HP:0003584 | Late onset | 1 | STIM1 CL E G H | 6786 | 160565 | Myopathy with tubular aggregates | 160565 | C0410207 | OMIM | 1 | | 522 | 11386 | 605921 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | STIM1 CL E G H | 6786 | 160565 | Myopathy with tubular aggregates | 160565 | C0410207 | OMIM | 1 | | 522 | 11386 | 605921 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | SYNE1 CL E G H | 23345 | 610743 | Spinocerebellar ataxia, autosomal recessive 8 | 610743 | C1853116 | OMIM | 1 | | 4598 | 17089 | 608441 |
HP:0003581 | HP:0003584 | Late onset | 1 | SYNE1 CL E G H | 23345 | 610743 | Spinocerebellar ataxia, autosomal recessive 8 | 610743 | C1853116 | OMIM | 1 | | 4598 | 17089 | 608441 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | SYNE1 CL E G H | 23345 | 610743 | Spinocerebellar ataxia, autosomal recessive 8 | 610743 | C1853116 | OMIM | 1 | | 4598 | 17089 | 608441 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | TAF1 CL E G H | 6872 | 314250 | Dystonia 3, torsion, X-linked | 314250 | C1839130 | OMIM | 1 | | 345 | 11535 | 313650 |
HP:0003581 | HP:0003584 | Late onset | 1 | TAF1 CL E G H | 6872 | 314250 | Dystonia 3, torsion, X-linked | 314250 | C1839130 | OMIM | 1 | | 345 | 11535 | 313650 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | TAF1 CL E G H | 6872 | 314250 | Dystonia 3, torsion, X-linked | 314250 | C1839130 | OMIM | 1 | | 345 | 11535 | 313650 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | TBK1 CL E G H | 29110 | 616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 616439 | C4225325 | OMIM | 1 | | 294 | 11584 | 604834 |
HP:0003581 | HP:0003584 | Late onset | 1 | TBK1 CL E G H | 29110 | 616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 616439 | C4225325 | OMIM | 1 | | 294 | 11584 | 604834 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | TBK1 CL E G H | 29110 | 616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 616439 | C4225325 | OMIM | 1 | | 294 | 11584 | 604834 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | TFG CL E G H | 10342 | 604484 | Neuropathy, hereditary motor and sensory, Okinawa type | 604484 | C1858338 | OMIM | 1 | | 307 | 11758 | 602498 |
HP:0003581 | HP:0003584 | Late onset | 1 | TFG CL E G H | 10342 | 604484 | Neuropathy, hereditary motor and sensory, Okinawa type | 604484 | C1858338 | OMIM | 1 | | 307 | 11758 | 602498 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | TFG CL E G H | 10342 | 604484 | Neuropathy, hereditary motor and sensory, Okinawa type | 604484 | C1858338 | OMIM | 1 | | 307 | 11758 | 602498 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | TGM6 CL E G H | 343641 | 613908 | Spinocerebellar ataxia 35 | 613908 | C3888031 | OMIM | 1 | | 289 | 16255 | 613900 |
HP:0003581 | HP:0003584 | Late onset | 1 | TGM6 CL E G H | 343641 | 613908 | Spinocerebellar ataxia 35 | 613908 | C3888031 | OMIM | 1 | | 289 | 16255 | 613900 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | TGM6 CL E G H | 343641 | 613908 | Spinocerebellar ataxia 35 | 613908 | C3888031 | OMIM | 1 | | 289 | 16255 | 613900 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | TIA1 CL E G H | 7072 | 604454 | Welander distal myopathy | 604454 | C0221054 | OMIM | 1 | | 190 | 11802 | 603518 |
HP:0003581 | HP:0003584 | Late onset | 1 | TIA1 CL E G H | 7072 | 604454 | Welander distal myopathy | 604454 | C0221054 | OMIM | 1 | | 190 | 11802 | 603518 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | TIA1 CL E G H | 7072 | 604454 | Welander distal myopathy | 604454 | C0221054 | OMIM | 1 | | 190 | 11802 | 603518 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | TMEM43 CL E G H | 79188 | 614302 | Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 614302 | C3553060 | OMIM | 1 | | 740 | 28472 | 612048 |
HP:0003581 | HP:0003584 | Late onset | 1 | TMEM43 CL E G H | 79188 | 614302 | Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 614302 | C3553060 | OMIM | 1 | | 740 | 28472 | 612048 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | TMEM43 CL E G H | 79188 | 614302 | Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 614302 | C3553060 | OMIM | 1 | | 740 | 28472 | 612048 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | TNFRSF13C CL E G H | 115650 | 613494 | Common variable immunodeficiency 4 | 613494 | C3150739 | OMIM | 1 | | 138 | 17755 | 606269 |
HP:0003581 | HP:0003584 | Late onset | 1 | TNFRSF13C CL E G H | 115650 | 613494 | Common variable immunodeficiency 4 | 613494 | C3150739 | OMIM | 1 | | 138 | 17755 | 606269 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | TNFRSF13C CL E G H | 115650 | 613494 | Common variable immunodeficiency 4 | 613494 | C3150739 | OMIM | 1 | | 138 | 17755 | 606269 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | TNPO3 CL E G H | 23534 | 608423 | Limb-girdle muscular dystrophy, type 1F | 608423 | C1842062 | OMIM | 1 | | 437 | 17103 | 610032 |
HP:0003581 | HP:0003584 | Late onset | 1 | TNPO3 CL E G H | 23534 | 608423 | Limb-girdle muscular dystrophy, type 1F | 608423 | C1842062 | OMIM | 1 | | 437 | 17103 | 610032 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | TNPO3 CL E G H | 23534 | 608423 | Limb-girdle muscular dystrophy, type 1F | 608423 | C1842062 | OMIM | 1 | | 437 | 17103 | 610032 |
HP:0003581 | HP:0003584 | Late onset | 1 | TOP3A CL E G H | 7156 | 618098 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 | 618098 | CN253818 | OMIM | 1 | | 199 | 11992 | 601243 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | TOP3A CL E G H | 7156 | 618098 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 | 618098 | CN253818 | OMIM | 1 | | 199 | 11992 | 601243 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | TOP3A CL E G H | 7156 | 618098 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 | 618098 | CN253818 | OMIM | 1 | | 199 | 11992 | 601243 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | TREX1 CL E G H | 11277 | 192315 | Vasculopathy, retinal, with cerebral leukodystrophy | 192315 | C1860518 | OMIM | 1 | | 327 | 12269 | 606609 |
HP:0003581 | HP:0003584 | Late onset | 1 | TREX1 CL E G H | 11277 | 192315 | Vasculopathy, retinal, with cerebral leukodystrophy | 192315 | C1860518 | OMIM | 1 | | 327 | 12269 | 606609 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | TREX1 CL E G H | 11277 | 192315 | Vasculopathy, retinal, with cerebral leukodystrophy | 192315 | C1860518 | OMIM | 1 | | 327 | 12269 | 606609 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | TRPC3 CL E G H | 7222 | 616410 | Spinocerebellar ataxia 41 | 616410 | C4225158 | OMIM | 1 | | 44 | 12335 | 602345 |
HP:0003581 | HP:0003584 | Late onset | 1 | TRPC3 CL E G H | 7222 | 616410 | Spinocerebellar ataxia 41 | 616410 | C4225158 | OMIM | 1 | | 44 | 12335 | 602345 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | TRPC3 CL E G H | 7222 | 616410 | Spinocerebellar ataxia 41 | 616410 | C4225158 | OMIM | 1 | | 44 | 12335 | 602345 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | TSC1 CL E G H | 7248 | 607341 | Focal cortical dysplasia type II | 607341 | C1846385 | OMIM | 1 | | 3690 | 12362 | 605284 |
HP:0003581 | HP:0003584 | Late onset | 1 | TSC1 CL E G H | 7248 | 607341 | Focal cortical dysplasia type II | 607341 | C1846385 | OMIM | 1 | | 3690 | 12362 | 605284 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | TSC1 CL E G H | 7248 | 607341 | Focal cortical dysplasia type II | 607341 | C1846385 | OMIM | 1 | | 3690 | 12362 | 605284 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | TSC2 CL E G H | 7249 | 607341 | Focal cortical dysplasia type II | 607341 | C1846385 | OMIM | 1 | | 8495 | 12363 | 191092 |
HP:0003581 | HP:0003584 | Late onset | 1 | TSC2 CL E G H | 7249 | 607341 | Focal cortical dysplasia type II | 607341 | C1846385 | OMIM | 1 | | 8495 | 12363 | 191092 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | TSC2 CL E G H | 7249 | 607341 | Focal cortical dysplasia type II | 607341 | C1846385 | OMIM | 1 | | 8495 | 12363 | 191092 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | TTBK2 CL E G H | 146057 | 604432 | Spinocerebellar ataxia 11 | 604432 | C1858351 | OMIM | 1 | | 234 | 19141 | 611695 |
HP:0003581 | HP:0003584 | Late onset | 1 | TTBK2 CL E G H | 146057 | 604432 | Spinocerebellar ataxia 11 | 604432 | C1858351 | OMIM | 1 | | 234 | 19141 | 611695 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | TTBK2 CL E G H | 146057 | 604432 | Spinocerebellar ataxia 11 | 604432 | C1858351 | OMIM | 1 | | 234 | 19141 | 611695 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | TTN CL E G H | 7273 | 600334 | Distal myopathy Markesbery-Griggs type | 600334 | C1838244 | OMIM | 1 | | 22859 | 12403 | 188840 |
HP:0003581 | HP:0003584 | Late onset | 1 | TTN CL E G H | 7273 | 600334 | Distal myopathy Markesbery-Griggs type | 600334 | C1838244 | OMIM | 1 | | 22859 | 12403 | 188840 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | TTN CL E G H | 7273 | 600334 | Distal myopathy Markesbery-Griggs type | 600334 | C1838244 | OMIM | 1 | | 22859 | 12403 | 188840 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | TTR CL E G H | 7276 | 105210 | Amyloidogenic transthyretin amyloidosis | 105210 | C2751492 | OMIM | 1 | | 341 | 12405 | 176300 |
HP:0003581 | HP:0003584 | Late onset | 1 | TTR CL E G H | 7276 | 105210 | Amyloidogenic transthyretin amyloidosis | 105210 | C2751492 | OMIM | 1 | | 341 | 12405 | 176300 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | TTR CL E G H | 7276 | 105210 | Amyloidogenic transthyretin amyloidosis | 105210 | C2751492 | OMIM | 1 | | 341 | 12405 | 176300 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 1 | | 308 | 1160 | 606075 |
HP:0003581 | HP:0003584 | Late onset | 1 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 1 | | 308 | 1160 | 606075 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 1 | | 308 | 1160 | 606075 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 308 | 1160 | 606075 |
HP:0003581 | HP:0003584 | Late onset | 1 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 308 | 1160 | 606075 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 308 | 1160 | 606075 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | UBQLN2 CL E G H | 29978 | 300857 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 300857 | C3275459 | OMIM | 1 | | 223 | 12509 | 300264 |
HP:0003581 | HP:0003584 | Late onset | 1 | UBQLN2 CL E G H | 29978 | 300857 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 300857 | C3275459 | OMIM | 1 | | 223 | 12509 | 300264 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | UBQLN2 CL E G H | 29978 | 300857 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 300857 | C3275459 | OMIM | 1 | | 223 | 12509 | 300264 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 390 | 23595 | 608877 |
HP:0003581 | HP:0003584 | Late onset | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 390 | 23595 | 608877 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 390 | 23595 | 608877 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | WASHC5 CL E G H | 9897 | 603563 | Spastic paraplegia 8 | 603563 | C1863704 | OMIM | 1 | | 527 | 28984 | 610657 |
HP:0003581 | HP:0003584 | Late onset | 1 | WASHC5 CL E G H | 9897 | 603563 | Spastic paraplegia 8 | 603563 | C1863704 | OMIM | 1 | | 527 | 28984 | 610657 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | WASHC5 CL E G H | 9897 | 603563 | Spastic paraplegia 8 | 603563 | C1863704 | OMIM | 1 | | 527 | 28984 | 610657 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | XPR1 CL E G H | 9213 | 616413 | Basal ganglia calcification, idiopathic, 6 | 616413 | C4225335 | OMIM | 1 | | 167 | 12827 | 605237 |
HP:0003581 | HP:0003584 | Late onset | 1 | XPR1 CL E G H | 9213 | 616413 | Basal ganglia calcification, idiopathic, 6 | 616413 | C4225335 | OMIM | 1 | | 167 | 12827 | 605237 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | XPR1 CL E G H | 9213 | 616413 | Basal ganglia calcification, idiopathic, 6 | 616413 | C4225335 | OMIM | 1 | | 167 | 12827 | 605237 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | ZNF687 CL E G H | 57592 | 616833 | Paget disease of bone 6 | 616833 | C4085250 | OMIM | 1 | | 50 | 29277 | 610568 |
HP:0003581 | HP:0003584 | Late onset | 1 | ZNF687 CL E G H | 57592 | 616833 | Paget disease of bone 6 | 616833 | C4085250 | OMIM | 1 | | 50 | 29277 | 610568 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | ZNF687 CL E G H | 57592 | 616833 | Paget disease of bone 6 | 616833 | C4085250 | OMIM | 1 | | 50 | 29277 | 610568 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003581 | HP:0003581 | Adult onset | 0 | C1QBP CL E G H | 708 | 617713 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 | 617713 | C4540209 | OMIM | 0 | | 54 | 1243 | 601269 |
HP:0003581 | HP:0003584 | Late onset | 1 | C1QBP CL E G H | 708 | 617713 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 | 617713 | C4540209 | OMIM | 0 | | 54 | 1243 | 601269 |
HP:0003581 | HP:0011462 | Young adult onset | 1 | C1QBP CL E G H | 708 | 617713 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 | 617713 | C4540209 | OMIM | 0 | | 54 | 1243 | 601269 |
HP:0003581 | HP:0003596 | Middle age onset | 1 | C1QBP CL E G H | 708 | 617713 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 | 617713 | C4540209 | OMIM | 0 | | 54 | 1243 | 601269 |