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:0011968 | HP:0011968 | Feeding difficulties | 0 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 308 | 68 | 603214 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ACADL CL E G H | 33 | 99900 | | | | ORPHA | 1 | | 38 | 88 | 609576 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 412 | 144 | 102560 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 356 | 15766 | 611386 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 922 | 21575 | 608894 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ALDH18A1 CL E G H | 5832 | 616603 | Cutis laxa, autosomal dominant 3 | 616603 | C4225268 | OMIM | 1 | | 437 | 9722 | 138250 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ALDH6A1 CL E G H | 4329 | 614105 | Methylmalonate semialdehyde dehydrogenase deficiency | 614105 | C3279840 | OMIM | 1 | | 157 | 7179 | 603178 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ALG11 CL E G H | 440138 | 613661 | Congenital disorder of glycosylation type 1P | 613661 | C3150913 | OMIM | 1 | | 196 | 32456 | 613666 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ALG12 CL E G H | 79087 | 607143 | ALG12-congenital disorder of glycosylation | 607143 | C2931001 | OMIM | 1 | | 464 | 19358 | 607144 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ANKRD11 CL E G H | 29123 | 2332 | | | | ORPHA | 1 | | 1515 | 21316 | 611192 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ANTXR2 CL E G H | 118429 | 2176 | Epimetaphyseal skeletal dysplasia | | | ORPHA | 1 | | 264 | 21732 | 608041 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | AP1S2 CL E G H | 8905 | 85329 | | | | ORPHA | 1 | | 218 | 560 | 300629 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 596 | 568 | 607246 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ASCL1 CL E G H | 429 | 209880 | Congenital central hypoventilation | 209880 | C1275808 | OMIM | 1 | | 32 | 738 | 100790 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ASH1L CL E G H | 55870 | 617796 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 | 617796 | C4540478 | OMIM | 1 | | 242 | 19088 | 607999 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 432 | 753 | 108370 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ASXL1 CL E G H | 171023 | 97297 | | | | ORPHA | 1 | | 503 | 18318 | 612990 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 491 | 29357 | 615115 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 292 | 25567 | 612316 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 484 | 18481 | 611716 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 123 | 851 | 607027 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 172 | 857 | 108746 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 42 | 10560 | 607640 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 511 | 14262 | 607270 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | BPTF CL E G H | 2186 | 529962 | | | | ORPHA | 1 | | 191 | 3581 | 601819 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | BRAT1 CL E G H | 221927 | 618056 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | 618056 | CN252657 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | BRPF1 CL E G H | 7862 | 617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | 617333 | C4310617 | OMIM | 1 | | 209 | 14255 | 602410 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CA12 CL E G H | 771 | 143860 | Hyperchlorhidrosis, isolated | 143860 | C1840437 | OMIM | 1 | | 57 | 1371 | 603263 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 371 | 1461 | 607707 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 697 | 25695 | 612800 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CDC45 CL E G H | 8318 | 2554 | | | | ORPHA | 1 | | 567 | 1739 | 603465 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CDC6 CL E G H | 990 | 2554 | | | | ORPHA | 1 | | 104 | 1744 | 602627 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CDC6 CL E G H | 990 | 613805 | Meier-Gorlin syndrome 5 | 613805 | C3151126 | OMIM | 1 | | 104 | 1744 | 602627 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CDK13 CL E G H | 8621 | 617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 617360 | C4479246 | OMIM | 1 | | 252 | 1733 | 603309 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CDT1 CL E G H | 81620 | 2554 | | | | ORPHA | 1 | | 326 | 24576 | 605525 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CDT1 CL E G H | 81620 | 613804 | Meier-Gorlin syndrome 4 | 613804 | C3151120 | OMIM | 1 | | 326 | 24576 | 605525 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 1 | | 305 | 26690 | 613446 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 1 | | 375 | 12370 | 610523 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CHAMP1 CL E G H | 283489 | 616579 | Mental retardation, autosomal dominant 40 | 616579 | C4225275 | OMIM | 1 | | 216 | 20311 | 616327 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 2318 | 20626 | 608892 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CHRNA1 CL E G H | 1134 | 601462 | Myasthenic syndrome, slow-channel congenital | 601462 | C0751885 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CHRNB1 CL E G H | 1140 | 616314 | Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency | 616314 | C4225373 | OMIM | 1 | | 357 | 1961 | 100710 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CHRND CL E G H | 1144 | 616322 | Myasthenic syndrome, congenital, 3b, fast-channel | 616322 | C4225371 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CHRND CL E G H | 1144 | 616323 | Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency | 616323 | C4225370 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CHRNE CL E G H | 1145 | 616324 | Myasthenic syndrome, congenital, 4b, fast-channel | 616324 | C4225369 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CLCF1 CL E G H | 23529 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 33 | 17412 | 607672 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 453 | 30664 | 616254 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 262 | 18620 | 606976 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 296 | 18622 | 606978 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | COL13A1 CL E G H | 1305 | 616720 | Myasthenic syndrome, congenital, 19 | 616720 | C4225235 | OMIM | 1 | | 397 | 2190 | 120350 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | COQ7 CL E G H | 10229 | 616733 | Coenzyme Q10 deficiency, primary, 8 | 616733 | C4225226 | OMIM | 1 | | 122 | 2244 | 601683 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 183 | 25302 | 612837 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CRLF1 CL E G H | 9244 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 80 | 2364 | 604237 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CSNK2A1 CL E G H | 1457 | 617062 | Okur-chung neurodevelopmental syndrome | 617062 | C4310739 | OMIM | 1 | | 196 | 2457 | 115440 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CTCF CL E G H | 10664 | 615502 | Mental retardation, autosomal dominant 21 | 615502 | C3809686 | OMIM | 1 | | 235 | 13723 | 604167 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 1 | | 244 | 10664 | 617170 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CYP11A1 CL E G H | 1583 | 168558 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | CYP11A1 CL E G H | 1583 | 289548 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 636 | 13681 | 603057 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | DCX CL E G H | 1641 | 2148 | | | | ORPHA | 1 | | 388 | 2714 | 300121 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 1 | | 216 | 2859 | 606418 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | DHFR CL E G H | 1719 | 613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency | 613839 | C3151205 | OMIM | 1 | | 493 | 2861 | 126060 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 422 | 2898 | 238331 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 422 | 2898 | 238331 |
HP:0011968 | HP:0011968 | Feeding difficulties | 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:0011968 | HP:0011968 | Feeding difficulties | 0 | DPF2 CL E G H | 5977 | 618027 | COFFIN-SIRIS SYNDROME 7 | 618027 | CN248780 | OMIM | 1 | | 73 | 9964 | 601671 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | DPM2 CL E G H | 8818 | 615042 | Congenital disorder of glycosylation type 1u | 615042 | C3554385 | OMIM | 1 | | 138 | 3006 | 603564 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | DST CL E G H | 667 | 614653 | Neuropathy, hereditary sensory and autonomic, type VI | 614653 | C3539003 | OMIM | 1 | | 2927 | 1090 | 113810 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | EDN3 CL E G H | 1908 | 209880 | Congenital central hypoventilation | 209880 | C1275808 | OMIM | 1 | | 155 | 3178 | 131242 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | EFTUD2 CL E G H | 9343 | 79113 | | | | ORPHA | 1 | | 363 | 30858 | 603892 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | EIF4A3 CL E G H | 9775 | 268305 | Richieri Costa Pereira syndrome | 268305 | C1849348 | OMIM | 1 | | 38 | 18683 | 608546 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | EXOSC3 CL E G H | 51010 | 614678 | Pontocerebellar hypoplasia, type 1b | 614678 | C3553449 | OMIM | 1 | | 190 | 17944 | 606489 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | EXOSC8 CL E G H | 11340 | 616081 | Pontocerebellar hypoplasia, type 1c | 616081 | C4015160 | OMIM | 1 | | 85 | 17035 | 606019 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | EXOSC9 CL E G H | 5393 | 618065 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | 618065 | CN252648 | OMIM | 1 | | 156 | 9137 | 606180 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 479 | 21062 | 611592 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | FAT4 CL E G H | 79633 | 615546 | Van Maldergem syndrome 2 | 615546 | C3809875 | OMIM | 1 | | 1312 | 23109 | 612411 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | FBN1 CL E G H | 2200 | 284979 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 210 | 3668 | 601513 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | FLAD1 CL E G H | 80308 | 255100 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | 255100 | C4310822 | OMIM | 1 | | 121 | 24671 | 610595 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | FOXE1 CL E G H | 2304 | 95713 | | | | ORPHA | 1 | | 71 | 3806 | 602617 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | FOXG1 CL E G H | 2290 | 261144 | | | | ORPHA | 1 | | 614 | 3811 | 164874 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | GALT CL E G H | 2592 | 79239 | | | | ORPHA | 1 | | 645 | 4135 | 606999 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | GATA6 CL E G H | 2627 | 2255 | Familial non-immune hyperthyroidism | | | ORPHA | 1 | | 378 | 4174 | 601656 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | GBA CL E G H | 2629 | 230900 | Acute neuronopathic Gaucher's disease | 230900 | C0268250 | OMIM | 1 | | | 4177 | 606463 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | GDNF CL E G H | 2668 | 209880 | Congenital central hypoventilation | 209880 | C1275808 | OMIM | 1 | | 131 | 4232 | 600837 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | GFM1 CL E G H | 85476 | 609060 | Combined oxidative phosphorylation deficiency 1 | 609060 | C1836797 | OMIM | 1 | | 495 | 13780 | 606639 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | GFPT1 CL E G H | 2673 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 453 | 4241 | 138292 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | GMNN CL E G H | 51053 | 2554 | | | | ORPHA | 1 | | 54 | 17493 | 602842 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | GMPPA CL E G H | 29926 | 615510 | Alacrima, achalasia, and mental retardation syndrome | 615510 | C3809738 | OMIM | 1 | | 118 | 22923 | 615495 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | GMPPB CL E G H | 29925 | 615350 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | 615350 | C3809216 | OMIM | 1 | | 273 | 22932 | 615320 |
HP:0011968 | HP:0011968 | Feeding difficulties | 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:0011968 | HP:0011968 | Feeding difficulties | 0 | GNB1 CL E G H | 2782 | 488613 | | | | ORPHA | 1 | | 310 | 4396 | 139380 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | GPHN CL E G H | 10243 | 615501 | Molybdenum cofactor deficiency, complementation group C | 615501 | C1854990 | OMIM | 1 | | 982 | 15465 | 603930 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 735 | 4584 | 138249 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | GRIN2D CL E G H | 2906 | 617162 | Epileptic encephalopathy, early infantile, 46 | 617162 | C4310687 | OMIM | 1 | | 519 | 4588 | 602717 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | GSC CL E G H | 145258 | 602471 | Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities | 602471 | C1865361 | OMIM | 1 | | 64 | 4612 | 138890 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | GTPBP3 CL E G H | 84705 | 616198 | Combined oxidative phosphorylation deficiency 23 | 616198 | C4015447 | OMIM | 1 | | 342 | 14880 | 608536 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 1 | | 1450 | 4827 | 141900 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | HESX1 CL E G H | 8820 | 226307 | | | | ORPHA | 1 | | 76 | 4877 | 601802 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | HIBCH CL E G H | 26275 | 250620 | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 250620 | C0342738 | OMIM | 1 | | 171 | 4908 | 610690 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | HIKESHI CL E G H | 51501 | 616881 | Leukodystrophy, hypomyelinating, 13 | 616881 | C4225170 | OMIM | 1 | | 52 | 26938 | 614908 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | HIVEP2 CL E G H | 3097 | 616977 | Mental retardation, autosomal dominant 43 | 616977 | C4310771 | OMIM | 1 | | 282 | 4921 | 143054 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | HNRNPH2 CL E G H | 3188 | 300986 | Mental retardation, X-linked, syndromic, Bain type | 300986 | C4310814 | OMIM | 1 | | 186 | 5042 | 300610 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | HNRNPK CL E G H | 3190 | 616580 | AU-KLINE SYNDROME | 616580 | C4225274 | OMIM | 1 | | 129 | 5044 | 600712 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | HOXB1 CL E G H | 3211 | 614744 | Hereditary congenital facial paresis 3 | 614744 | C3553625 | OMIM | 1 | | 32 | 5111 | 142968 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | HPCA CL E G H | 3208 | 99657 | | | | ORPHA | 1 | | 31 | 5144 | 142622 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | HSD3B2 CL E G H | 3284 | 90791 | | | | ORPHA | 1 | | 231 | 5218 | 613890 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | HTT CL E G H | 3064 | 617435 | Lopes-Maciel-Rodan syndrome | 617435 | C4479491 | OMIM | 1 | | 735 | 4851 | 613004 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | IDUA CL E G H | 3425 | 93473 | | | | ORPHA | 1 | | 1313 | 5391 | 252800 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 1 | | 127 | 18550 | 609382 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | IFIH1 CL E G H | 64135 | 615846 | Aicardi-Goutieres syndrome 7 | 615846 | C3888244 | OMIM | 1 | | 892 | 18873 | 606951 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 1 | | 620 | 21474 | 613037 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | KAT6A CL E G H | 7994 | 457193 | | | | ORPHA | 1 | | 545 | 13013 | 601408 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | KAT6A CL E G H | 7994 | 616268 | Mental retardation, autosomal dominant 32 | 616268 | C4225396 | OMIM | 1 | | 545 | 13013 | 601408 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | KAT6B CL E G H | 23522 | 3047 | | | | ORPHA | 1 | | 605 | 17582 | 605880 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | KCNQ2 CL E G H | 3785 | 439218 | | | | ORPHA | 1 | | 1689 | 6296 | 602235 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | KDM6A CL E G H | 7403 | 2322 | | | | ORPHA | 1 | | 678 | 12637 | 300128 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 2132 | 888 | 601255 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | KIF5A CL E G H | 3798 | 617235 | Myoclonus, intractable, neonatal | 617235 | C4310658 | OMIM | 1 | | 744 | 6323 | 602821 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | KLHL7 CL E G H | 55975 | 97297 | | | | ORPHA | 1 | | 258 | 15646 | 611119 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | KLHL7 CL E G H | 55975 | 617055 | Cold-induced sweating syndrome 3 | 617055 | C4310742 | OMIM | 1 | | 258 | 15646 | 611119 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | KMT2A CL E G H | 4297 | 319182 | | | | ORPHA | 1 | | 1317 | 7132 | 159555 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | KMT2D CL E G H | 8085 | 2322 | | | | ORPHA | 1 | | 2939 | 7133 | 602113 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | KRAS CL E G H | 3845 | 3339 | | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | LAMA3 CL E G H | 3909 | 79404 | | | | ORPHA | 1 | | 1019 | 6483 | 600805 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | LAMB3 CL E G H | 3914 | 79404 | | | | ORPHA | 1 | | 819 | 6490 | 150310 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | LAMC2 CL E G H | 3918 | 79404 | | | | ORPHA | 1 | | 723 | 6493 | 150292 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | LHX3 CL E G H | 8022 | 226307 | | | | ORPHA | 1 | | 379 | 6595 | 600577 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | LHX4 CL E G H | 89884 | 226307 | | | | ORPHA | 1 | | 144 | 21734 | 602146 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 335 | 16429 | 607031 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | LIFR CL E G H | 3977 | 601559 | Stuve-Wiedemann syndrome | 601559 | C0796176 | OMIM | 1 | | 721 | 6597 | 151443 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | LINGO1 CL E G H | 84894 | 618103 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64 | 618103 | CN253431 | OMIM | 1 | | 41 | 21205 | 609791 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | LMNA CL E G H | 4000 | 157973 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | LRP4 CL E G H | 4038 | 616304 | Myasthenic syndrome, congenital, 17 | 616304 | C4225377 | OMIM | 1 | | 790 | 6696 | 604270 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | LYRM4 CL E G H | 57128 | 615595 | Combined oxidative phosphorylation deficiency 19 | 615595 | C3810055 | OMIM | 1 | | 124 | 21365 | 613311 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | MAGEL2 CL E G H | 54551 | 615547 | Schaaf-yang syndrome | 615547 | C3809877 | OMIM | 1 | | 620 | 6814 | 605283 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | MAP3K7 CL E G H | 6885 | 157800 | Forney Robinson Pascoe syndrome | 157800 | C2931461 | OMIM | 1 | | 161 | 6859 | 602614 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | MARS2 CL E G H | 92935 | 616430 | Combined oxidative phosphorylation deficiency 25 | 616430 | C4225329 | OMIM | 1 | | 130 | 25133 | 609728 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 1 | | 248 | 15455 | 300294 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | MCCC2 CL E G H | 64087 | 210210 | 3-methylcrotonyl CoA carboxylase 2 deficiency | 210210 | C1859499 | OMIM | 1 | | 532 | 6937 | 609014 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | MDH2 CL E G H | 4191 | 617339 | Epileptic encephalopathy, early infantile, 51 | 617339 | C4479208 | OMIM | 1 | | 463 | 6971 | 154100 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | MED12 CL E G H | 9968 | 300895 | Ohdo syndrome, X-linked | 300895 | C3698541 | OMIM | 1 | | 1236 | 11957 | 300188 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | MED17 CL E G H | 9440 | 613668 | Microcephaly, postnatal progressive, with seizures and brain atrophy | 613668 | C3150921 | OMIM | 1 | | 357 | 2375 | 603810 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | MIPEP CL E G H | 4285 | 617228 | Combined oxidative phosphorylation deficiency 31 | 617228 | C4310661 | OMIM | 1 | | 185 | 7104 | 602241 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 1 | | 662 | 7121 | 609883 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | MMUT CL E G H | 4594 | 79312 | | | | ORPHA | 1 | | 771 | 7526 | 609058 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | MOCS2 CL E G H | 4338 | 252160 | Molybdenum cofactor deficiency, complementation group B | 252160 | C1854989 | OMIM | 1 | | 239 | 7193 | 603708 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | MRPL3 CL E G H | 11222 | 614582 | Combined oxidative phosphorylation deficiency 9 | 614582 | C3281234 | OMIM | 1 | | 84 | 10379 | 607118 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | MRPS34 CL E G H | 65993 | 617664 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 | 617664 | C4540029 | OMIM | 1 | | 83 | 16618 | 611994 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | MTO1 CL E G H | 25821 | 614702 | Combined oxidative phosphorylation deficiency 10 | 614702 | C3553529 | OMIM | 1 | | 441 | 19261 | 614667 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | MYH7 CL E G H | 4625 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 3612 | 7577 | 160760 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | MYH8 CL E G H | 4626 | 158300 | Hecht syndrome | 158300 | C0265226 | OMIM | 1 | | 289 | 7578 | 160741 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | MYMK CL E G H | 389827 | 254940 | Congenital nonprogressive myopathy with Moebius and Robin sequences | 254940 | C1850746 | OMIM | 1 | | 75 | 33778 | 615345 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | MYO9A CL E G H | 4649 | 618198 | MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC | 618198 | | OMIM | 1 | | 172 | 7608 | 604875 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | NACC1 CL E G H | 112939 | 617393 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | 617393 | C4479333 | OMIM | 1 | | 239 | 20967 | 610672 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | NALCN CL E G H | 259232 | 615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 615419 | C3809454 | OMIM | 1 | | 653 | 19082 | 611549 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 1 | | 206 | 26274 | 612803 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | NDUFAF2 CL E G H | 91942 | 618233 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | 618233 | | OMIM | 1 | | 115 | 28086 | 609653 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 6444 | 7720 | 161650 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | NECAP1 CL E G H | 25977 | 615833 | Early infantile epileptic encephalopathy 21 | 615833 | C4014430 | OMIM | 1 | | 167 | 24539 | 611623 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | NEXMIF CL E G H | 340533 | 300912 | Mental retardation, X-linked 98 | 300912 | C3806730 | OMIM | 1 | | 817 | 29433 | 300524 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | NFU1 CL E G H | 27247 | 605711 | Multiple mitochondrial dysfunctions syndrome 1 | 605711 | C3276432 | OMIM | 1 | | 138 | 16287 | 608100 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | NHLRC2 CL E G H | 374354 | 618278 | 618278 | 618278 | | OMIM | 1 | | 41 | 24731 | 0 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | NKX2-1 CL E G H | 7080 | 95713 | | | | ORPHA | 1 | | 227 | 11825 | 600635 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | NKX2-5 CL E G H | 1482 | 95713 | | | | ORPHA | 1 | | 449 | 2488 | 600584 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 1 | | 653 | 7905 | 607100 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | NR3C2 CL E G H | 4306 | 177735 | Pseudohypoaldosteronism type 1 autosomal dominant | 177735 | C1449842 | OMIM | 1 | | 247 | 7979 | 600983 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | NRXN1 CL E G H | 9378 | 614325 | Pitt-Hopkins-like syndrome 2 | 614325 | C3280479 | OMIM | 1 | | 1770 | 8008 | 600565 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | NSMCE3 CL E G H | 56160 | 617241 | Lung disease, immunodeficiency, and chromosome breakage syndrome | 617241 | C4310653 | OMIM | 1 | | 223 | 7677 | 608243 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ORC1 CL E G H | 4998 | 2554 | | | | ORPHA | 1 | | 214 | 8487 | 601902 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ORC4 CL E G H | 5000 | 2554 | | | | ORPHA | 1 | | 166 | 8490 | 603056 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ORC4 CL E G H | 5000 | 613800 | Meier-Gorlin syndrome 2 | 613800 | C3151097 | OMIM | 1 | | 166 | 8490 | 603056 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ORC6 CL E G H | 23594 | 2554 | | | | ORPHA | 1 | | 131 | 17151 | 607213 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ORC6 CL E G H | 23594 | 613803 | Meier-Gorlin syndrome 3 | 613803 | C3151113 | OMIM | 1 | | 131 | 17151 | 607213 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | OTUD6B CL E G H | 51633 | 505237 | | | | ORPHA | 1 | | 70 | 24281 | 612021 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | OTUD6B CL E G H | 51633 | 617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 617452 | C4479520 | OMIM | 1 | | 70 | 24281 | 612021 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PACS1 CL E G H | 55690 | 615009 | Schuurs-hoeijmakers syndrome | 615009 | C3554343 | OMIM | 1 | | 329 | 30032 | 607492 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PAX8 CL E G H | 7849 | 95713 | | | | ORPHA | 1 | | 198 | 8622 | 167415 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PDSS2 CL E G H | 57107 | 614652 | Coenzyme Q10 deficiency, primary, 3 | 614652 | C3553358 | OMIM | 1 | | 141 | 23041 | 610564 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PEX13 CL E G H | 5194 | 614885 | Peroxisome biogenesis disorder 11B | 614885 | C3554001 | OMIM | 1 | | 397 | 8855 | 601789 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PEX14 CL E G H | 5195 | 614887 | Peroxisome biogenesis disorder 13A | 614887 | C3554004 | OMIM | 1 | | 374 | 8856 | 601791 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PEX26 CL E G H | 55670 | 614872 | Peroxisome biogenesis disorder 7A | 614872 | C3539168 | OMIM | 1 | | 431 | 22965 | 608666 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PEX3 CL E G H | 8504 | 614882 | Peroxisome biogenesis disorder 10A | 614882 | C3553999 | OMIM | 1 | | 271 | 8858 | 603164 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PHGDH CL E G H | 26227 | 79351 | | | | ORPHA | 1 | | 519 | 8923 | 606879 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PHOX2B CL E G H | 8929 | 209880 | Congenital central hypoventilation | 209880 | C1275808 | OMIM | 1 | | 840 | 9143 | 603851 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PIEZO2 CL E G H | 63895 | 2461 | | | | ORPHA | 1 | | 755 | 26270 | 613629 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PIGP CL E G H | 51227 | 617599 | Early infantile epileptic encephalopathy 55 | 617599 | C4539843 | OMIM | 1 | | 147 | 3046 | 605938 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PIGY CL E G H | 84992 | 616809 | Hyperphosphatasia with mental retardation syndrome 6 | 616809 | C4225201 | OMIM | 1 | | 36 | 28213 | 610662 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 598 | 9039 | 603604 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 338 | 9043 | 603873 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 281 | 30260 | 603287 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | POGZ CL E G H | 23126 | 616364 | White-sutton syndrome | 616364 | C4225351 | OMIM | 1 | | 478 | 18801 | 614787 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | POLR3A CL E G H | 11128 | 264090 | Neonatal pseudo-hydrocephalic progeroid syndrome | 264090 | C0406586 | OMIM | 1 | | 785 | 30074 | 614258 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | POMK CL E G H | 84197 | 615249 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 615249 | C3808964 | OMIM | 1 | | 244 | 26267 | 615247 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | POU1F1 CL E G H | 5449 | 226307 | | | | ORPHA | 1 | | 92 | 9210 | 173110 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PPM1D CL E G H | 8493 | 617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 617450 | C4479517 | OMIM | 1 | | 140 | 9277 | 605100 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PREPL CL E G H | 9581 | 616224 | Myasthenic syndrome, congenital, 22 | 616224 | C4479088 | OMIM | 1 | | 549 | 30228 | 609557 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PRKD1 CL E G H | 5587 | 617364 | Congenital heart defects and ectodermal dysplasia | 617364 | C4479250 | OMIM | 1 | | 97 | 9407 | 605435 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PROP1 CL E G H | 5626 | 226307 | | | | ORPHA | 1 | | 223 | 9455 | 601538 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 598 | 9498 | 176801 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PSMD12 CL E G H | 5718 | 529962 | | | | ORPHA | 1 | | 53 | 9557 | 604450 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PSPH CL E G H | 5723 | 79350 | | | | ORPHA | 1 | | 160 | 9577 | 172480 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 1 | | 3848 | 9585 | 601309 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PUF60 CL E G H | 22827 | 615583 | Verheij syndrome | 615583 | C3810023 | OMIM | 1 | | 190 | 17042 | 604819 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | PURA CL E G H | 5813 | 616158 | Mental retardation, autosomal dominant 31 | 616158 | C4015357 | OMIM | 1 | | 393 | 9701 | 600473 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | RAP1A CL E G H | 5906 | 2322 | | | | ORPHA | 1 | | 38 | 9855 | 179520 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | RAP1B CL E G H | 5908 | 2322 | | | | ORPHA | 1 | | 30 | 9857 | 179530 |
HP:0011968 | HP:0011968 | Feeding difficulties | 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:0011968 | HP:0011968 | Feeding difficulties | 0 | RERE CL E G H | 473 | 616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 616975 | C4310772 | OMIM | 1 | | 343 | 9965 | 605226 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | RET CL E G H | 5979 | 209880 | Congenital central hypoventilation | 209880 | C1275808 | OMIM | 1 | | 2692 | 9967 | 164761 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | RFT1 CL E G H | 91869 | 244310 | | | | ORPHA | 1 | | 399 | 30220 | 611908 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | RFT1 CL E G H | 91869 | 612015 | Congenital disorder of glycosylation type 1N | 612015 | C2677590 | OMIM | 1 | | 399 | 30220 | 611908 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 187 | 13429 | 300379 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 193 | 21176 | 614917 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | RNASEH1 CL E G H | 246243 | 329336 | | | | ORPHA | 1 | | 104 | 18466 | 604123 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 314 | 18518 | 606034 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 1 | | 1135 | 29168 | 610937 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | RPS28 CL E G H | 6234 | 606164 | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | 606164 | C1853576 | OMIM | 1 | | 18 | 10418 | 603685 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | RRM2B CL E G H | 50484 | 329336 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | RRM2B CL E G H | 50484 | 612075 | Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy | 612075 | C2749861 | OMIM | 1 | | 293 | 17296 | 604712 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | RYR1 CL E G H | 6261 | 98905 | | | | ORPHA | 1 | | 5062 | 10483 | 180901 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | RYR1 CL E G H | 6261 | 424107 | | | | ORPHA | 1 | | 5062 | 10483 | 180901 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | RYR1 CL E G H | 6261 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SARS2 CL E G H | 54938 | 613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | 613845 | C3151209 | OMIM | 1 | | 190 | 17697 | 612804 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SATB2 CL E G H | 23314 | 251019 | | | | ORPHA | 1 | | 566 | 21637 | 608148 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SCN3A CL E G H | 6328 | 617938 | Early infantile epileptic encephalopathy 62 | 617938 | CN244551 | OMIM | 1 | | 1096 | 10590 | 182391 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SCN4A CL E G H | 6329 | 684 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SCN4A CL E G H | 6329 | 168300 | Paramyotonia congenita of von Eulenburg | 168300 | C0221055 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SELENON CL E G H | 57190 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 537 | 15999 | 606210 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SEMA3E CL E G H | 9723 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 451 | 10727 | 608166 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 312 | 21061 | 614725 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SHANK3 CL E G H | 85358 | 48652 | | | | ORPHA | 1 | | 776 | 14294 | 606230 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SHANK3 CL E G H | 85358 | 606232 | 22q13.3 deletion syndrome | 606232 | C1853490 | OMIM | 1 | | 776 | 14294 | 606230 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SIK1 CL E G H | 150094 | 616341 | Epileptic encephalopathy, early infantile, 30 | 616341 | C4225360 | OMIM | 1 | | 779 | 11142 | 605705 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SLC16A1 CL E G H | 6566 | 616095 | Monocarboxylate transporter 1 deficiency | 616095 | C4015186 | OMIM | 1 | | 163 | 10922 | 600682 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SLC18A3 CL E G H | 6572 | 617239 | Myasthenic syndrome, congenital, 21, presynaptic | 617239 | C4310654 | OMIM | 1 | | 215 | 10936 | 600336 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 505 | 10979 | 190315 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SLC25A19 CL E G H | 60386 | 99742 | | | | ORPHA | 1 | | 136 | 14409 | 606521 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SLC25A24 CL E G H | 29957 | 612289 | Fontaine progeroid syndrome | 612289 | C2676780 | OMIM | 1 | | 83 | 20662 | 608744 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SLC26A4 CL E G H | 5172 | 95713 | | | | ORPHA | 1 | | 1066 | 8818 | 605646 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SLC6A3 CL E G H | 6531 | 238455 | | | | ORPHA | 1 | | 479 | 11049 | 126455 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 479 | 11049 | 126455 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SMARCA4 CL E G H | 6597 | 614609 | Mental retardation, autosomal dominant 16 | 614609 | C3553249 | OMIM | 1 | | 4367 | 11100 | 603254 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SMARCB1 CL E G H | 6598 | 614608 | Mental retardation, autosomal dominant 15 | 614608 | C3553248 | OMIM | 1 | | 901 | 11103 | 601607 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SMARCE1 CL E G H | 6605 | 616938 | Coffin-Siris syndrome 5 | 616938 | C4310788 | OMIM | 1 | | 660 | 11109 | 603111 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SMC1A CL E G H | 8243 | 319182 | | | | ORPHA | 1 | | 798 | 11111 | 300040 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SNIP1 CL E G H | 79753 | 614501 | Psychomotor retardation, epilepsy, and craniofacial dysmorphism | 614501 | C3281055 | OMIM | 1 | | 132 | 30587 | 608241 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SNRPB CL E G H | 6628 | 1393 | | | | ORPHA | 1 | | 74 | 11153 | 182282 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SNX10 CL E G H | 29887 | 615085 | Osteopetrosis, autosomal recessive 8 | 615085 | C3554478 | OMIM | 1 | | 111 | 14974 | 614780 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SON CL E G H | 6651 | 617140 | ZTTK syndrome | 617140 | C4310696 | OMIM | 1 | | 549 | 11183 | 182465 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SPATA5 CL E G H | 166378 | 616577 | Epilepsy, hearing loss, and mental retardation syndrome | 616577 | C4225276 | OMIM | 1 | | 646 | 18119 | 613940 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SSR4 CL E G H | 6748 | 370927 | | | | ORPHA | 1 | | 284 | 11326 | 300090 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SSR4 CL E G H | 6748 | 300934 | Congenital disorder of glycosylation type 1y | 300934 | C4012395 | OMIM | 1 | | 284 | 11326 | 300090 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ST3GAL5 CL E G H | 8869 | 370938 | | | | ORPHA | 1 | | 309 | 10872 | 604402 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | STAC3 CL E G H | 246329 | 255995 | Native American myopathy | 255995 | C1850625 | OMIM | 1 | | 188 | 28423 | 615521 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | STAG1 CL E G H | 10274 | 617635 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 | 617635 | C4539951 | OMIM | 1 | | 133 | 11354 | 604358 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | STRADA CL E G H | 92335 | 611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | 611087 | C1970203 | OMIM | 1 | | 270 | 30172 | 608626 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | STT3A CL E G H | 3703 | 370921 | | | | ORPHA | 1 | | 199 | 6172 | 601134 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | STT3A CL E G H | 3703 | 615596 | Congenital disorder of glycosylation type 1w | 615596 | C3810062 | OMIM | 1 | | 199 | 6172 | 601134 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | STT3B CL E G H | 201595 | 370924 | | | | ORPHA | 1 | | 129 | 30611 | 608605 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | STT3B CL E G H | 201595 | 615597 | Congenital disorder of glycosylation type 1x | 615597 | C2931007 | OMIM | 1 | | 129 | 30611 | 608605 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 219 | 11449 | 611224 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SYNJ1 CL E G H | 8867 | 617389 | Epileptic encephalopathy, early infantile, 53 | 617389 | C4479313 | OMIM | 1 | | 1046 | 11503 | 604297 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | SYT1 CL E G H | 6857 | 618218 | BAKER-GORDON SYNDROME | 618218 | | OMIM | 1 | | 50 | 11509 | 185605 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | TBC1D24 CL E G H | 57465 | 352596 | | | | ORPHA | 1 | | 795 | 29203 | 613577 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 445 | 11581 | 604649 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | TCF4 CL E G H | 6925 | 2896 | Hypogonadism retinitis pigmentosa | | | ORPHA | 1 | | 913 | 11634 | 602272 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | TCTN3 CL E G H | 26123 | 2753 | Hunter Macpherson syndrome | | | ORPHA | 1 | | 327 | 24519 | 613847 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 794 | 11782 | 191290 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | THRA CL E G H | 7067 | 97927 | | | | ORPHA | 1 | | 50 | 11796 | 190120 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | THRB CL E G H | 7068 | 97927 | | | | ORPHA | 1 | | 327 | 11799 | 190160 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | TLK2 CL E G H | 11011 | 618050 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 | 618050 | CN252334 | OMIM | 1 | | 122 | 11842 | 608439 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | TMCO1 CL E G H | 54499 | 213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | 213980 | C1859252 | OMIM | 1 | | 65 | 18188 | 614123 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | TMEM237 CL E G H | 65062 | 220497 | | | | ORPHA | 1 | | 390 | 14432 | 614423 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | TPM2 CL E G H | 7169 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 280 | 12011 | 190990 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | TPM3 CL E G H | 7170 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 300 | 12012 | 191030 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | TRAPPC11 CL E G H | 60684 | 615356 | Limb-girdle muscular dystrophy, type 2S | 615356 | C3809236 | OMIM | 1 | | 774 | 25751 | 614138 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 114 | 24284 | 614139 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | TRHR CL E G H | 7201 | 99832 | | | | ORPHA | 1 | | 54 | 12299 | 188545 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | TRMT10C CL E G H | 54931 | 616974 | Combined oxidative phosphorylation deficiency 30 | 616974 | C4310773 | OMIM | 1 | | 31 | 26022 | 615423 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | TSEN2 CL E G H | 80746 | 612389 | Pontocerebellar hypoplasia type 2B | 612389 | C2676466 | OMIM | 1 | | 239 | 28422 | 608753 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | TSHB CL E G H | 7252 | 90674 | | | | ORPHA | 1 | | 28 | 12372 | 188540 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | TSHR CL E G H | 7253 | 95713 | | | | ORPHA | 1 | | 206 | 12373 | 603372 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | TSHR CL E G H | 7253 | 90673 | | | | ORPHA | 1 | | 206 | 12373 | 603372 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | TXN2 CL E G H | 25828 | 616811 | Combined oxidative phosphorylation deficiency 29 | 616811 | C4225200 | OMIM | 1 | | 50 | 17772 | 609063 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | UBA5 CL E G H | 79876 | 617132 | Epileptic encephalopathy, early infantile, 44 | 617132 | C4310700 | OMIM | 1 | | 157 | 23230 | 610552 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | UBE3B CL E G H | 89910 | 2707 | | | | ORPHA | 1 | | 110 | 13478 | 608047 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 55 | 12511 | 600673 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | UFC1 CL E G H | 51506 | 618076 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH | 618076 | CN252685 | OMIM | 1 | | 25 | 26941 | 610554 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | UNC80 CL E G H | 285175 | 616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 616801 | C4225203 | OMIM | 1 | | 1166 | 26582 | 612636 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | UQCC3 CL E G H | 790955 | 616111 | Mitochondrial complex III deficiency, nuclear type 9 | 616111 | C4015253 | OMIM | 1 | | 28 | 34399 | 616097 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | USP9X CL E G H | 8239 | 300968 | Mental retardation, X-linked 99, syndromic, female-restricted | 300968 | C4225416 | OMIM | 1 | | 568 | 12632 | 300072 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | WARS2 CL E G H | 10352 | 617710 | NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES | 617710 | C4540192 | OMIM | 1 | | 80 | 12730 | 604733 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | WDR26 CL E G H | 80232 | 617616 | SKRABAN-DEARDORFF SYNDROME | 617616 | C4539927 | OMIM | 1 | | 125 | 21208 | 617424 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ZNF148 CL E G H | 7707 | 617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | 617260 | C4310644 | OMIM | 1 | | 63 | 12933 | 601897 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ZNHIT3 CL E G H | 9326 | 2836 | | | | ORPHA | 1 | | 110 | 12309 | 604500 |
HP:0011968 | HP:0011968 | Feeding difficulties | 0 | ZSWIM6 CL E G H | 57688 | 617865 | NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES | 617865 | CN800196 | OMIM | 1 | | 466 | 29316 | 615951 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 308 | 68 | 603214 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 308 | 68 | 603214 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 308 | 68 | 603214 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 308 | 68 | 603214 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ACADL CL E G H | 33 | 99900 | | | | ORPHA | 1 | | 38 | 88 | 609576 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ACADL CL E G H | 33 | 99900 | | | | ORPHA | 1 | | 38 | 88 | 609576 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ACADL CL E G H | 33 | 99900 | | | | ORPHA | 1 | | 38 | 88 | 609576 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ACADL CL E G H | 33 | 99900 | | | | ORPHA | 1 | | 38 | 88 | 609576 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 412 | 144 | 102560 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 412 | 144 | 102560 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 412 | 144 | 102560 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 412 | 144 | 102560 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 356 | 15766 | 611386 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 356 | 15766 | 611386 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 356 | 15766 | 611386 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 356 | 15766 | 611386 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 922 | 21575 | 608894 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 922 | 21575 | 608894 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 922 | 21575 | 608894 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 922 | 21575 | 608894 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ALDH18A1 CL E G H | 5832 | 616603 | Cutis laxa, autosomal dominant 3 | 616603 | C4225268 | OMIM | 1 | | 437 | 9722 | 138250 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ALDH18A1 CL E G H | 5832 | 616603 | Cutis laxa, autosomal dominant 3 | 616603 | C4225268 | OMIM | 1 | | 437 | 9722 | 138250 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ALDH18A1 CL E G H | 5832 | 616603 | Cutis laxa, autosomal dominant 3 | 616603 | C4225268 | OMIM | 1 | | 437 | 9722 | 138250 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ALDH18A1 CL E G H | 5832 | 616603 | Cutis laxa, autosomal dominant 3 | 616603 | C4225268 | OMIM | 1 | | 437 | 9722 | 138250 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ALDH6A1 CL E G H | 4329 | 614105 | Methylmalonate semialdehyde dehydrogenase deficiency | 614105 | C3279840 | OMIM | 1 | | 157 | 7179 | 603178 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ALDH6A1 CL E G H | 4329 | 614105 | Methylmalonate semialdehyde dehydrogenase deficiency | 614105 | C3279840 | OMIM | 1 | | 157 | 7179 | 603178 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ALDH6A1 CL E G H | 4329 | 614105 | Methylmalonate semialdehyde dehydrogenase deficiency | 614105 | C3279840 | OMIM | 1 | | 157 | 7179 | 603178 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ALDH6A1 CL E G H | 4329 | 614105 | Methylmalonate semialdehyde dehydrogenase deficiency | 614105 | C3279840 | OMIM | 1 | | 157 | 7179 | 603178 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ALG11 CL E G H | 440138 | 613661 | Congenital disorder of glycosylation type 1P | 613661 | C3150913 | OMIM | 1 | | 196 | 32456 | 613666 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ALG11 CL E G H | 440138 | 613661 | Congenital disorder of glycosylation type 1P | 613661 | C3150913 | OMIM | 1 | | 196 | 32456 | 613666 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ALG11 CL E G H | 440138 | 613661 | Congenital disorder of glycosylation type 1P | 613661 | C3150913 | OMIM | 1 | | 196 | 32456 | 613666 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ALG11 CL E G H | 440138 | 613661 | Congenital disorder of glycosylation type 1P | 613661 | C3150913 | OMIM | 1 | | 196 | 32456 | 613666 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ALG12 CL E G H | 79087 | 607143 | ALG12-congenital disorder of glycosylation | 607143 | C2931001 | OMIM | 1 | | 464 | 19358 | 607144 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ALG12 CL E G H | 79087 | 607143 | ALG12-congenital disorder of glycosylation | 607143 | C2931001 | OMIM | 1 | | 464 | 19358 | 607144 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ALG12 CL E G H | 79087 | 607143 | ALG12-congenital disorder of glycosylation | 607143 | C2931001 | OMIM | 1 | | 464 | 19358 | 607144 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ALG12 CL E G H | 79087 | 607143 | ALG12-congenital disorder of glycosylation | 607143 | C2931001 | OMIM | 1 | | 464 | 19358 | 607144 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ANKRD11 CL E G H | 29123 | 2332 | | | | ORPHA | 1 | | 1515 | 21316 | 611192 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ANKRD11 CL E G H | 29123 | 2332 | | | | ORPHA | 1 | | 1515 | 21316 | 611192 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ANKRD11 CL E G H | 29123 | 2332 | | | | ORPHA | 1 | | 1515 | 21316 | 611192 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ANKRD11 CL E G H | 29123 | 2332 | | | | ORPHA | 1 | | 1515 | 21316 | 611192 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ANTXR2 CL E G H | 118429 | 2176 | Epimetaphyseal skeletal dysplasia | | | ORPHA | 1 | | 264 | 21732 | 608041 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ANTXR2 CL E G H | 118429 | 2176 | Epimetaphyseal skeletal dysplasia | | | ORPHA | 1 | | 264 | 21732 | 608041 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ANTXR2 CL E G H | 118429 | 2176 | Epimetaphyseal skeletal dysplasia | | | ORPHA | 1 | | 264 | 21732 | 608041 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ANTXR2 CL E G H | 118429 | 2176 | Epimetaphyseal skeletal dysplasia | | | ORPHA | 1 | | 264 | 21732 | 608041 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | AP1S2 CL E G H | 8905 | 85329 | | | | ORPHA | 1 | | 218 | 560 | 300629 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | AP1S2 CL E G H | 8905 | 85329 | | | | ORPHA | 1 | | 218 | 560 | 300629 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | AP1S2 CL E G H | 8905 | 85329 | | | | ORPHA | 1 | | 218 | 560 | 300629 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | AP1S2 CL E G H | 8905 | 85329 | | | | ORPHA | 1 | | 218 | 560 | 300629 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 596 | 568 | 607246 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 596 | 568 | 607246 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 596 | 568 | 607246 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 596 | 568 | 607246 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ASCL1 CL E G H | 429 | 209880 | Congenital central hypoventilation | 209880 | C1275808 | OMIM | 1 | | 32 | 738 | 100790 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ASCL1 CL E G H | 429 | 209880 | Congenital central hypoventilation | 209880 | C1275808 | OMIM | 1 | | 32 | 738 | 100790 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ASCL1 CL E G H | 429 | 209880 | Congenital central hypoventilation | 209880 | C1275808 | OMIM | 1 | | 32 | 738 | 100790 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ASCL1 CL E G H | 429 | 209880 | Congenital central hypoventilation | 209880 | C1275808 | OMIM | 1 | | 32 | 738 | 100790 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ASH1L CL E G H | 55870 | 617796 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 | 617796 | C4540478 | OMIM | 1 | | 242 | 19088 | 607999 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ASH1L CL E G H | 55870 | 617796 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 | 617796 | C4540478 | OMIM | 1 | | 242 | 19088 | 607999 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ASH1L CL E G H | 55870 | 617796 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 | 617796 | C4540478 | OMIM | 1 | | 242 | 19088 | 607999 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ASH1L CL E G H | 55870 | 617796 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 | 617796 | C4540478 | OMIM | 1 | | 242 | 19088 | 607999 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 432 | 753 | 108370 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 432 | 753 | 108370 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 432 | 753 | 108370 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 432 | 753 | 108370 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ASXL1 CL E G H | 171023 | 97297 | | | | ORPHA | 1 | | 503 | 18318 | 612990 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ASXL1 CL E G H | 171023 | 97297 | | | | ORPHA | 1 | | 503 | 18318 | 612990 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ASXL1 CL E G H | 171023 | 97297 | | | | ORPHA | 1 | | 503 | 18318 | 612990 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ASXL1 CL E G H | 171023 | 97297 | | | | ORPHA | 1 | | 503 | 18318 | 612990 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 491 | 29357 | 615115 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 491 | 29357 | 615115 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 491 | 29357 | 615115 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 491 | 29357 | 615115 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 292 | 25567 | 612316 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 292 | 25567 | 612316 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 292 | 25567 | 612316 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 292 | 25567 | 612316 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 484 | 18481 | 611716 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 484 | 18481 | 611716 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 484 | 18481 | 611716 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 484 | 18481 | 611716 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 123 | 851 | 607027 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 123 | 851 | 607027 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 123 | 851 | 607027 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 123 | 851 | 607027 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 172 | 857 | 108746 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 172 | 857 | 108746 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 172 | 857 | 108746 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 172 | 857 | 108746 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 42 | 10560 | 607640 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 42 | 10560 | 607640 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 42 | 10560 | 607640 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 42 | 10560 | 607640 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 511 | 14262 | 607270 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 511 | 14262 | 607270 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 511 | 14262 | 607270 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 511 | 14262 | 607270 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | BPTF CL E G H | 2186 | 529962 | | | | ORPHA | 1 | | 191 | 3581 | 601819 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | BPTF CL E G H | 2186 | 529962 | | | | ORPHA | 1 | | 191 | 3581 | 601819 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | BPTF CL E G H | 2186 | 529962 | | | | ORPHA | 1 | | 191 | 3581 | 601819 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | BPTF CL E G H | 2186 | 529962 | | | | ORPHA | 1 | | 191 | 3581 | 601819 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | BRAT1 CL E G H | 221927 | 618056 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | 618056 | CN252657 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | BRAT1 CL E G H | 221927 | 618056 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | 618056 | CN252657 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | BRAT1 CL E G H | 221927 | 618056 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | 618056 | CN252657 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | BRAT1 CL E G H | 221927 | 618056 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | 618056 | CN252657 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | BRPF1 CL E G H | 7862 | 617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | 617333 | C4310617 | OMIM | 1 | | 209 | 14255 | 602410 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | BRPF1 CL E G H | 7862 | 617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | 617333 | C4310617 | OMIM | 1 | | 209 | 14255 | 602410 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | BRPF1 CL E G H | 7862 | 617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | 617333 | C4310617 | OMIM | 1 | | 209 | 14255 | 602410 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | BRPF1 CL E G H | 7862 | 617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | 617333 | C4310617 | OMIM | 1 | | 209 | 14255 | 602410 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CA12 CL E G H | 771 | 143860 | Hyperchlorhidrosis, isolated | 143860 | C1840437 | OMIM | 1 | | 57 | 1371 | 603263 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CA12 CL E G H | 771 | 143860 | Hyperchlorhidrosis, isolated | 143860 | C1840437 | OMIM | 1 | | 57 | 1371 | 603263 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CA12 CL E G H | 771 | 143860 | Hyperchlorhidrosis, isolated | 143860 | C1840437 | OMIM | 1 | | 57 | 1371 | 603263 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CA12 CL E G H | 771 | 143860 | Hyperchlorhidrosis, isolated | 143860 | C1840437 | OMIM | 1 | | 57 | 1371 | 603263 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 371 | 1461 | 607707 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 371 | 1461 | 607707 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 371 | 1461 | 607707 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 371 | 1461 | 607707 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 697 | 25695 | 612800 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 697 | 25695 | 612800 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 697 | 25695 | 612800 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 697 | 25695 | 612800 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CDC45 CL E G H | 8318 | 2554 | | | | ORPHA | 1 | | 567 | 1739 | 603465 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CDC45 CL E G H | 8318 | 2554 | | | | ORPHA | 1 | | 567 | 1739 | 603465 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CDC45 CL E G H | 8318 | 2554 | | | | ORPHA | 1 | | 567 | 1739 | 603465 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CDC45 CL E G H | 8318 | 2554 | | | | ORPHA | 1 | | 567 | 1739 | 603465 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CDC6 CL E G H | 990 | 2554 | | | | ORPHA | 1 | | 104 | 1744 | 602627 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CDC6 CL E G H | 990 | 2554 | | | | ORPHA | 1 | | 104 | 1744 | 602627 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CDC6 CL E G H | 990 | 2554 | | | | ORPHA | 1 | | 104 | 1744 | 602627 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CDC6 CL E G H | 990 | 2554 | | | | ORPHA | 1 | | 104 | 1744 | 602627 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CDC6 CL E G H | 990 | 613805 | Meier-Gorlin syndrome 5 | 613805 | C3151126 | OMIM | 1 | | 104 | 1744 | 602627 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CDC6 CL E G H | 990 | 613805 | Meier-Gorlin syndrome 5 | 613805 | C3151126 | OMIM | 1 | | 104 | 1744 | 602627 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CDC6 CL E G H | 990 | 613805 | Meier-Gorlin syndrome 5 | 613805 | C3151126 | OMIM | 1 | | 104 | 1744 | 602627 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CDC6 CL E G H | 990 | 613805 | Meier-Gorlin syndrome 5 | 613805 | C3151126 | OMIM | 1 | | 104 | 1744 | 602627 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CDK13 CL E G H | 8621 | 617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 617360 | C4479246 | OMIM | 1 | | 252 | 1733 | 603309 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CDK13 CL E G H | 8621 | 617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 617360 | C4479246 | OMIM | 1 | | 252 | 1733 | 603309 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CDK13 CL E G H | 8621 | 617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 617360 | C4479246 | OMIM | 1 | | 252 | 1733 | 603309 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CDK13 CL E G H | 8621 | 617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 617360 | C4479246 | OMIM | 1 | | 252 | 1733 | 603309 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CDT1 CL E G H | 81620 | 2554 | | | | ORPHA | 1 | | 326 | 24576 | 605525 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CDT1 CL E G H | 81620 | 2554 | | | | ORPHA | 1 | | 326 | 24576 | 605525 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CDT1 CL E G H | 81620 | 2554 | | | | ORPHA | 1 | | 326 | 24576 | 605525 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CDT1 CL E G H | 81620 | 2554 | | | | ORPHA | 1 | | 326 | 24576 | 605525 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CDT1 CL E G H | 81620 | 613804 | Meier-Gorlin syndrome 4 | 613804 | C3151120 | OMIM | 1 | | 326 | 24576 | 605525 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CDT1 CL E G H | 81620 | 613804 | Meier-Gorlin syndrome 4 | 613804 | C3151120 | OMIM | 1 | | 326 | 24576 | 605525 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CDT1 CL E G H | 81620 | 613804 | Meier-Gorlin syndrome 4 | 613804 | C3151120 | OMIM | 1 | | 326 | 24576 | 605525 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CDT1 CL E G H | 81620 | 613804 | Meier-Gorlin syndrome 4 | 613804 | C3151120 | OMIM | 1 | | 326 | 24576 | 605525 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 1 | | 305 | 26690 | 613446 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 1 | | 305 | 26690 | 613446 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 1 | | 305 | 26690 | 613446 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 1 | | 305 | 26690 | 613446 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 1 | | 375 | 12370 | 610523 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 1 | | 375 | 12370 | 610523 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 1 | | 375 | 12370 | 610523 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 1 | | 375 | 12370 | 610523 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CHAMP1 CL E G H | 283489 | 616579 | Mental retardation, autosomal dominant 40 | 616579 | C4225275 | OMIM | 1 | | 216 | 20311 | 616327 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CHAMP1 CL E G H | 283489 | 616579 | Mental retardation, autosomal dominant 40 | 616579 | C4225275 | OMIM | 1 | | 216 | 20311 | 616327 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CHAMP1 CL E G H | 283489 | 616579 | Mental retardation, autosomal dominant 40 | 616579 | C4225275 | OMIM | 1 | | 216 | 20311 | 616327 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CHAMP1 CL E G H | 283489 | 616579 | Mental retardation, autosomal dominant 40 | 616579 | C4225275 | OMIM | 1 | | 216 | 20311 | 616327 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 2318 | 20626 | 608892 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 2318 | 20626 | 608892 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 2318 | 20626 | 608892 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 2318 | 20626 | 608892 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CHRNA1 CL E G H | 1134 | 601462 | Myasthenic syndrome, slow-channel congenital | 601462 | C0751885 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CHRNA1 CL E G H | 1134 | 601462 | Myasthenic syndrome, slow-channel congenital | 601462 | C0751885 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CHRNA1 CL E G H | 1134 | 601462 | Myasthenic syndrome, slow-channel congenital | 601462 | C0751885 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CHRNA1 CL E G H | 1134 | 601462 | Myasthenic syndrome, slow-channel congenital | 601462 | C0751885 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CHRNB1 CL E G H | 1140 | 616314 | Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency | 616314 | C4225373 | OMIM | 1 | | 357 | 1961 | 100710 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CHRNB1 CL E G H | 1140 | 616314 | Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency | 616314 | C4225373 | OMIM | 1 | | 357 | 1961 | 100710 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CHRNB1 CL E G H | 1140 | 616314 | Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency | 616314 | C4225373 | OMIM | 1 | | 357 | 1961 | 100710 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CHRNB1 CL E G H | 1140 | 616314 | Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency | 616314 | C4225373 | OMIM | 1 | | 357 | 1961 | 100710 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CHRND CL E G H | 1144 | 616322 | Myasthenic syndrome, congenital, 3b, fast-channel | 616322 | C4225371 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CHRND CL E G H | 1144 | 616322 | Myasthenic syndrome, congenital, 3b, fast-channel | 616322 | C4225371 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CHRND CL E G H | 1144 | 616322 | Myasthenic syndrome, congenital, 3b, fast-channel | 616322 | C4225371 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CHRND CL E G H | 1144 | 616322 | Myasthenic syndrome, congenital, 3b, fast-channel | 616322 | C4225371 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CHRND CL E G H | 1144 | 616323 | Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency | 616323 | C4225370 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CHRND CL E G H | 1144 | 616323 | Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency | 616323 | C4225370 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CHRND CL E G H | 1144 | 616323 | Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency | 616323 | C4225370 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CHRND CL E G H | 1144 | 616323 | Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency | 616323 | C4225370 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CHRNE CL E G H | 1145 | 616324 | Myasthenic syndrome, congenital, 4b, fast-channel | 616324 | C4225369 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CHRNE CL E G H | 1145 | 616324 | Myasthenic syndrome, congenital, 4b, fast-channel | 616324 | C4225369 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CHRNE CL E G H | 1145 | 616324 | Myasthenic syndrome, congenital, 4b, fast-channel | 616324 | C4225369 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CHRNE CL E G H | 1145 | 616324 | Myasthenic syndrome, congenital, 4b, fast-channel | 616324 | C4225369 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CLCF1 CL E G H | 23529 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 33 | 17412 | 607672 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CLCF1 CL E G H | 23529 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 33 | 17412 | 607672 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CLCF1 CL E G H | 23529 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 33 | 17412 | 607672 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CLCF1 CL E G H | 23529 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 33 | 17412 | 607672 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 453 | 30664 | 616254 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 453 | 30664 | 616254 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 453 | 30664 | 616254 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 453 | 30664 | 616254 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 262 | 18620 | 606976 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 262 | 18620 | 606976 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 262 | 18620 | 606976 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 262 | 18620 | 606976 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 296 | 18622 | 606978 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 296 | 18622 | 606978 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 296 | 18622 | 606978 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 296 | 18622 | 606978 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | COL13A1 CL E G H | 1305 | 616720 | Myasthenic syndrome, congenital, 19 | 616720 | C4225235 | OMIM | 1 | | 397 | 2190 | 120350 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | COL13A1 CL E G H | 1305 | 616720 | Myasthenic syndrome, congenital, 19 | 616720 | C4225235 | OMIM | 1 | | 397 | 2190 | 120350 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | COL13A1 CL E G H | 1305 | 616720 | Myasthenic syndrome, congenital, 19 | 616720 | C4225235 | OMIM | 1 | | 397 | 2190 | 120350 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | COL13A1 CL E G H | 1305 | 616720 | Myasthenic syndrome, congenital, 19 | 616720 | C4225235 | OMIM | 1 | | 397 | 2190 | 120350 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | COQ7 CL E G H | 10229 | 616733 | Coenzyme Q10 deficiency, primary, 8 | 616733 | C4225226 | OMIM | 1 | | 122 | 2244 | 601683 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | COQ7 CL E G H | 10229 | 616733 | Coenzyme Q10 deficiency, primary, 8 | 616733 | C4225226 | OMIM | 1 | | 122 | 2244 | 601683 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | COQ7 CL E G H | 10229 | 616733 | Coenzyme Q10 deficiency, primary, 8 | 616733 | C4225226 | OMIM | 1 | | 122 | 2244 | 601683 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | COQ7 CL E G H | 10229 | 616733 | Coenzyme Q10 deficiency, primary, 8 | 616733 | C4225226 | OMIM | 1 | | 122 | 2244 | 601683 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 183 | 25302 | 612837 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 183 | 25302 | 612837 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 183 | 25302 | 612837 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 183 | 25302 | 612837 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CRLF1 CL E G H | 9244 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 80 | 2364 | 604237 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CRLF1 CL E G H | 9244 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 80 | 2364 | 604237 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CRLF1 CL E G H | 9244 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 80 | 2364 | 604237 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CRLF1 CL E G H | 9244 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 80 | 2364 | 604237 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CSNK2A1 CL E G H | 1457 | 617062 | Okur-chung neurodevelopmental syndrome | 617062 | C4310739 | OMIM | 1 | | 196 | 2457 | 115440 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CSNK2A1 CL E G H | 1457 | 617062 | Okur-chung neurodevelopmental syndrome | 617062 | C4310739 | OMIM | 1 | | 196 | 2457 | 115440 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CSNK2A1 CL E G H | 1457 | 617062 | Okur-chung neurodevelopmental syndrome | 617062 | C4310739 | OMIM | 1 | | 196 | 2457 | 115440 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CSNK2A1 CL E G H | 1457 | 617062 | Okur-chung neurodevelopmental syndrome | 617062 | C4310739 | OMIM | 1 | | 196 | 2457 | 115440 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CTCF CL E G H | 10664 | 615502 | Mental retardation, autosomal dominant 21 | 615502 | C3809686 | OMIM | 1 | | 235 | 13723 | 604167 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CTCF CL E G H | 10664 | 615502 | Mental retardation, autosomal dominant 21 | 615502 | C3809686 | OMIM | 1 | | 235 | 13723 | 604167 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CTCF CL E G H | 10664 | 615502 | Mental retardation, autosomal dominant 21 | 615502 | C3809686 | OMIM | 1 | | 235 | 13723 | 604167 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CTCF CL E G H | 10664 | 615502 | Mental retardation, autosomal dominant 21 | 615502 | C3809686 | OMIM | 1 | | 235 | 13723 | 604167 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 1 | | 244 | 10664 | 617170 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 1 | | 244 | 10664 | 617170 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 1 | | 244 | 10664 | 617170 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 1 | | 244 | 10664 | 617170 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CYP11A1 CL E G H | 1583 | 168558 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | CYP11A1 CL E G H | 1583 | 289548 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CYP11A1 CL E G H | 1583 | 168558 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | CYP11A1 CL E G H | 1583 | 289548 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CYP11A1 CL E G H | 1583 | 168558 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CYP11A1 CL E G H | 1583 | 168558 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | CYP11A1 CL E G H | 1583 | 289548 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | CYP11A1 CL E G H | 1583 | 289548 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 636 | 13681 | 603057 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 636 | 13681 | 603057 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 636 | 13681 | 603057 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 636 | 13681 | 603057 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | DCX CL E G H | 1641 | 2148 | | | | ORPHA | 1 | | 388 | 2714 | 300121 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | DCX CL E G H | 1641 | 2148 | | | | ORPHA | 1 | | 388 | 2714 | 300121 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | DCX CL E G H | 1641 | 2148 | | | | ORPHA | 1 | | 388 | 2714 | 300121 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | DCX CL E G H | 1641 | 2148 | | | | ORPHA | 1 | | 388 | 2714 | 300121 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 1 | | 216 | 2859 | 606418 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 1 | | 216 | 2859 | 606418 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 1 | | 216 | 2859 | 606418 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 1 | | 216 | 2859 | 606418 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | DHFR CL E G H | 1719 | 613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency | 613839 | C3151205 | OMIM | 1 | | 493 | 2861 | 126060 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | DHFR CL E G H | 1719 | 613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency | 613839 | C3151205 | OMIM | 1 | | 493 | 2861 | 126060 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | DHFR CL E G H | 1719 | 613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency | 613839 | C3151205 | OMIM | 1 | | 493 | 2861 | 126060 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | DHFR CL E G H | 1719 | 613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency | 613839 | C3151205 | OMIM | 1 | | 493 | 2861 | 126060 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 422 | 2898 | 238331 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 422 | 2898 | 238331 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 422 | 2898 | 238331 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 422 | 2898 | 238331 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 422 | 2898 | 238331 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 422 | 2898 | 238331 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 422 | 2898 | 238331 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 422 | 2898 | 238331 |
HP:0011968 | HP:0033454 | Tube feeding | 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:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 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:0011968 | HP:0008872 | Feeding difficulties in infancy | 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:0011968 | HP:0033994 | Dependency on parenteral nutrition | 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:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | DPF2 CL E G H | 5977 | 618027 | COFFIN-SIRIS SYNDROME 7 | 618027 | CN248780 | OMIM | 1 | | 73 | 9964 | 601671 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | DPF2 CL E G H | 5977 | 618027 | COFFIN-SIRIS SYNDROME 7 | 618027 | CN248780 | OMIM | 1 | | 73 | 9964 | 601671 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | DPF2 CL E G H | 5977 | 618027 | COFFIN-SIRIS SYNDROME 7 | 618027 | CN248780 | OMIM | 1 | | 73 | 9964 | 601671 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | DPF2 CL E G H | 5977 | 618027 | COFFIN-SIRIS SYNDROME 7 | 618027 | CN248780 | OMIM | 1 | | 73 | 9964 | 601671 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | DPM2 CL E G H | 8818 | 615042 | Congenital disorder of glycosylation type 1u | 615042 | C3554385 | OMIM | 1 | | 138 | 3006 | 603564 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | DPM2 CL E G H | 8818 | 615042 | Congenital disorder of glycosylation type 1u | 615042 | C3554385 | OMIM | 1 | | 138 | 3006 | 603564 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | DPM2 CL E G H | 8818 | 615042 | Congenital disorder of glycosylation type 1u | 615042 | C3554385 | OMIM | 1 | | 138 | 3006 | 603564 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | DPM2 CL E G H | 8818 | 615042 | Congenital disorder of glycosylation type 1u | 615042 | C3554385 | OMIM | 1 | | 138 | 3006 | 603564 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | DST CL E G H | 667 | 614653 | Neuropathy, hereditary sensory and autonomic, type VI | 614653 | C3539003 | OMIM | 1 | | 2927 | 1090 | 113810 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | DST CL E G H | 667 | 614653 | Neuropathy, hereditary sensory and autonomic, type VI | 614653 | C3539003 | OMIM | 1 | | 2927 | 1090 | 113810 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | DST CL E G H | 667 | 614653 | Neuropathy, hereditary sensory and autonomic, type VI | 614653 | C3539003 | OMIM | 1 | | 2927 | 1090 | 113810 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | DST CL E G H | 667 | 614653 | Neuropathy, hereditary sensory and autonomic, type VI | 614653 | C3539003 | OMIM | 1 | | 2927 | 1090 | 113810 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | EDN3 CL E G H | 1908 | 209880 | Congenital central hypoventilation | 209880 | C1275808 | OMIM | 1 | | 155 | 3178 | 131242 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | EDN3 CL E G H | 1908 | 209880 | Congenital central hypoventilation | 209880 | C1275808 | OMIM | 1 | | 155 | 3178 | 131242 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | EDN3 CL E G H | 1908 | 209880 | Congenital central hypoventilation | 209880 | C1275808 | OMIM | 1 | | 155 | 3178 | 131242 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | EDN3 CL E G H | 1908 | 209880 | Congenital central hypoventilation | 209880 | C1275808 | OMIM | 1 | | 155 | 3178 | 131242 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | EFTUD2 CL E G H | 9343 | 79113 | | | | ORPHA | 1 | | 363 | 30858 | 603892 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | EFTUD2 CL E G H | 9343 | 79113 | | | | ORPHA | 1 | | 363 | 30858 | 603892 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | EFTUD2 CL E G H | 9343 | 79113 | | | | ORPHA | 1 | | 363 | 30858 | 603892 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | EFTUD2 CL E G H | 9343 | 79113 | | | | ORPHA | 1 | | 363 | 30858 | 603892 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | EIF4A3 CL E G H | 9775 | 268305 | Richieri Costa Pereira syndrome | 268305 | C1849348 | OMIM | 1 | | 38 | 18683 | 608546 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | EIF4A3 CL E G H | 9775 | 268305 | Richieri Costa Pereira syndrome | 268305 | C1849348 | OMIM | 1 | | 38 | 18683 | 608546 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | EIF4A3 CL E G H | 9775 | 268305 | Richieri Costa Pereira syndrome | 268305 | C1849348 | OMIM | 1 | | 38 | 18683 | 608546 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | EIF4A3 CL E G H | 9775 | 268305 | Richieri Costa Pereira syndrome | 268305 | C1849348 | OMIM | 1 | | 38 | 18683 | 608546 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | EXOSC3 CL E G H | 51010 | 614678 | Pontocerebellar hypoplasia, type 1b | 614678 | C3553449 | OMIM | 1 | | 190 | 17944 | 606489 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | EXOSC3 CL E G H | 51010 | 614678 | Pontocerebellar hypoplasia, type 1b | 614678 | C3553449 | OMIM | 1 | | 190 | 17944 | 606489 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | EXOSC3 CL E G H | 51010 | 614678 | Pontocerebellar hypoplasia, type 1b | 614678 | C3553449 | OMIM | 1 | | 190 | 17944 | 606489 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | EXOSC3 CL E G H | 51010 | 614678 | Pontocerebellar hypoplasia, type 1b | 614678 | C3553449 | OMIM | 1 | | 190 | 17944 | 606489 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | EXOSC8 CL E G H | 11340 | 616081 | Pontocerebellar hypoplasia, type 1c | 616081 | C4015160 | OMIM | 1 | | 85 | 17035 | 606019 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | EXOSC8 CL E G H | 11340 | 616081 | Pontocerebellar hypoplasia, type 1c | 616081 | C4015160 | OMIM | 1 | | 85 | 17035 | 606019 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | EXOSC8 CL E G H | 11340 | 616081 | Pontocerebellar hypoplasia, type 1c | 616081 | C4015160 | OMIM | 1 | | 85 | 17035 | 606019 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | EXOSC8 CL E G H | 11340 | 616081 | Pontocerebellar hypoplasia, type 1c | 616081 | C4015160 | OMIM | 1 | | 85 | 17035 | 606019 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | EXOSC9 CL E G H | 5393 | 618065 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | 618065 | CN252648 | OMIM | 1 | | 156 | 9137 | 606180 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | EXOSC9 CL E G H | 5393 | 618065 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | 618065 | CN252648 | OMIM | 1 | | 156 | 9137 | 606180 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | EXOSC9 CL E G H | 5393 | 618065 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | 618065 | CN252648 | OMIM | 1 | | 156 | 9137 | 606180 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | EXOSC9 CL E G H | 5393 | 618065 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | 618065 | CN252648 | OMIM | 1 | | 156 | 9137 | 606180 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 479 | 21062 | 611592 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 479 | 21062 | 611592 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 479 | 21062 | 611592 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 479 | 21062 | 611592 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | FAT4 CL E G H | 79633 | 615546 | Van Maldergem syndrome 2 | 615546 | C3809875 | OMIM | 1 | | 1312 | 23109 | 612411 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | FAT4 CL E G H | 79633 | 615546 | Van Maldergem syndrome 2 | 615546 | C3809875 | OMIM | 1 | | 1312 | 23109 | 612411 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | FAT4 CL E G H | 79633 | 615546 | Van Maldergem syndrome 2 | 615546 | C3809875 | OMIM | 1 | | 1312 | 23109 | 612411 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | FAT4 CL E G H | 79633 | 615546 | Van Maldergem syndrome 2 | 615546 | C3809875 | OMIM | 1 | | 1312 | 23109 | 612411 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | FBN1 CL E G H | 2200 | 284979 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | FBN1 CL E G H | 2200 | 284979 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | FBN1 CL E G H | 2200 | 284979 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | FBN1 CL E G H | 2200 | 284979 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 210 | 3668 | 601513 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 210 | 3668 | 601513 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 210 | 3668 | 601513 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 210 | 3668 | 601513 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | FLAD1 CL E G H | 80308 | 255100 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | 255100 | C4310822 | OMIM | 1 | | 121 | 24671 | 610595 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | FLAD1 CL E G H | 80308 | 255100 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | 255100 | C4310822 | OMIM | 1 | | 121 | 24671 | 610595 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | FLAD1 CL E G H | 80308 | 255100 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | 255100 | C4310822 | OMIM | 1 | | 121 | 24671 | 610595 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | FLAD1 CL E G H | 80308 | 255100 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | 255100 | C4310822 | OMIM | 1 | | 121 | 24671 | 610595 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | FOXE1 CL E G H | 2304 | 95713 | | | | ORPHA | 1 | | 71 | 3806 | 602617 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | FOXE1 CL E G H | 2304 | 95713 | | | | ORPHA | 1 | | 71 | 3806 | 602617 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | FOXE1 CL E G H | 2304 | 95713 | | | | ORPHA | 1 | | 71 | 3806 | 602617 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | FOXE1 CL E G H | 2304 | 95713 | | | | ORPHA | 1 | | 71 | 3806 | 602617 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | FOXG1 CL E G H | 2290 | 261144 | | | | ORPHA | 1 | | 614 | 3811 | 164874 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | FOXG1 CL E G H | 2290 | 261144 | | | | ORPHA | 1 | | 614 | 3811 | 164874 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | FOXG1 CL E G H | 2290 | 261144 | | | | ORPHA | 1 | | 614 | 3811 | 164874 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | FOXG1 CL E G H | 2290 | 261144 | | | | ORPHA | 1 | | 614 | 3811 | 164874 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | GALT CL E G H | 2592 | 79239 | | | | ORPHA | 1 | | 645 | 4135 | 606999 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | GALT CL E G H | 2592 | 79239 | | | | ORPHA | 1 | | 645 | 4135 | 606999 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | GALT CL E G H | 2592 | 79239 | | | | ORPHA | 1 | | 645 | 4135 | 606999 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | GALT CL E G H | 2592 | 79239 | | | | ORPHA | 1 | | 645 | 4135 | 606999 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | GATA6 CL E G H | 2627 | 2255 | Familial non-immune hyperthyroidism | | | ORPHA | 1 | | 378 | 4174 | 601656 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | GATA6 CL E G H | 2627 | 2255 | Familial non-immune hyperthyroidism | | | ORPHA | 1 | | 378 | 4174 | 601656 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | GATA6 CL E G H | 2627 | 2255 | Familial non-immune hyperthyroidism | | | ORPHA | 1 | | 378 | 4174 | 601656 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | GATA6 CL E G H | 2627 | 2255 | Familial non-immune hyperthyroidism | | | ORPHA | 1 | | 378 | 4174 | 601656 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | GBA CL E G H | 2629 | 230900 | Acute neuronopathic Gaucher's disease | 230900 | C0268250 | OMIM | 1 | | | 4177 | 606463 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | GBA CL E G H | 2629 | 230900 | Acute neuronopathic Gaucher's disease | 230900 | C0268250 | OMIM | 1 | | | 4177 | 606463 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | GBA CL E G H | 2629 | 230900 | Acute neuronopathic Gaucher's disease | 230900 | C0268250 | OMIM | 1 | | | 4177 | 606463 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | GBA CL E G H | 2629 | 230900 | Acute neuronopathic Gaucher's disease | 230900 | C0268250 | OMIM | 1 | | | 4177 | 606463 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | GDNF CL E G H | 2668 | 209880 | Congenital central hypoventilation | 209880 | C1275808 | OMIM | 1 | | 131 | 4232 | 600837 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | GDNF CL E G H | 2668 | 209880 | Congenital central hypoventilation | 209880 | C1275808 | OMIM | 1 | | 131 | 4232 | 600837 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | GDNF CL E G H | 2668 | 209880 | Congenital central hypoventilation | 209880 | C1275808 | OMIM | 1 | | 131 | 4232 | 600837 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | GDNF CL E G H | 2668 | 209880 | Congenital central hypoventilation | 209880 | C1275808 | OMIM | 1 | | 131 | 4232 | 600837 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | GFM1 CL E G H | 85476 | 609060 | Combined oxidative phosphorylation deficiency 1 | 609060 | C1836797 | OMIM | 1 | | 495 | 13780 | 606639 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | GFM1 CL E G H | 85476 | 609060 | Combined oxidative phosphorylation deficiency 1 | 609060 | C1836797 | OMIM | 1 | | 495 | 13780 | 606639 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | GFM1 CL E G H | 85476 | 609060 | Combined oxidative phosphorylation deficiency 1 | 609060 | C1836797 | OMIM | 1 | | 495 | 13780 | 606639 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | GFM1 CL E G H | 85476 | 609060 | Combined oxidative phosphorylation deficiency 1 | 609060 | C1836797 | OMIM | 1 | | 495 | 13780 | 606639 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | GFPT1 CL E G H | 2673 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 453 | 4241 | 138292 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | GFPT1 CL E G H | 2673 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 453 | 4241 | 138292 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | GFPT1 CL E G H | 2673 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 453 | 4241 | 138292 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | GFPT1 CL E G H | 2673 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 453 | 4241 | 138292 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | GMNN CL E G H | 51053 | 2554 | | | | ORPHA | 1 | | 54 | 17493 | 602842 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | GMNN CL E G H | 51053 | 2554 | | | | ORPHA | 1 | | 54 | 17493 | 602842 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | GMNN CL E G H | 51053 | 2554 | | | | ORPHA | 1 | | 54 | 17493 | 602842 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | GMNN CL E G H | 51053 | 2554 | | | | ORPHA | 1 | | 54 | 17493 | 602842 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | GMPPA CL E G H | 29926 | 615510 | Alacrima, achalasia, and mental retardation syndrome | 615510 | C3809738 | OMIM | 1 | | 118 | 22923 | 615495 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | GMPPA CL E G H | 29926 | 615510 | Alacrima, achalasia, and mental retardation syndrome | 615510 | C3809738 | OMIM | 1 | | 118 | 22923 | 615495 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | GMPPA CL E G H | 29926 | 615510 | Alacrima, achalasia, and mental retardation syndrome | 615510 | C3809738 | OMIM | 1 | | 118 | 22923 | 615495 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | GMPPA CL E G H | 29926 | 615510 | Alacrima, achalasia, and mental retardation syndrome | 615510 | C3809738 | OMIM | 1 | | 118 | 22923 | 615495 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | GMPPB CL E G H | 29925 | 615350 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | 615350 | C3809216 | OMIM | 1 | | 273 | 22932 | 615320 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | GMPPB CL E G H | 29925 | 615350 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | 615350 | C3809216 | OMIM | 1 | | 273 | 22932 | 615320 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | GMPPB CL E G H | 29925 | 615350 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | 615350 | C3809216 | OMIM | 1 | | 273 | 22932 | 615320 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | GMPPB CL E G H | 29925 | 615350 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | 615350 | C3809216 | OMIM | 1 | | 273 | 22932 | 615320 |
HP:0011968 | HP:0033454 | Tube feeding | 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:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 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:0011968 | HP:0008872 | Feeding difficulties in infancy | 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:0011968 | HP:0033994 | Dependency on parenteral nutrition | 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:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | GNB1 CL E G H | 2782 | 488613 | | | | ORPHA | 1 | | 310 | 4396 | 139380 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | GNB1 CL E G H | 2782 | 488613 | | | | ORPHA | 1 | | 310 | 4396 | 139380 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | GNB1 CL E G H | 2782 | 488613 | | | | ORPHA | 1 | | 310 | 4396 | 139380 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | GNB1 CL E G H | 2782 | 488613 | | | | ORPHA | 1 | | 310 | 4396 | 139380 |
HP:0011968 | HP:0012381 | Delayed self-feeding during toddler years | 1 | GPHN CL E G H | 10243 | 615501 | Molybdenum cofactor deficiency, complementation group C | 615501 | C1854990 | OMIM | 1 | | 982 | 15465 | 603930 |
HP:0011968 | HP:0033454 | Tube feeding | 1 | GPHN CL E G H | 10243 | 615501 | Molybdenum cofactor deficiency, complementation group C | 615501 | C1854990 | OMIM | 1 | | 982 | 15465 | 603930 |
HP:0011968 | HP:0008872 | Feeding difficulties in infancy | 1 | GPHN CL E G H | 10243 | 615501 | Molybdenum cofactor deficiency, complementation group C | 615501 | C1854990 | OMIM | 1 | | 982 | 15465 | 603930 |
HP:0011968 | HP:0033994 | Dependency on parenteral nutrition | 1 | GPHN CL E G H | 10243 | 615501 | Molybdenum cofactor deficiency, complementation group C | 615501 | C1854990 | OMIM | 1 | | 982 | 15465 | 603930 |
HP:0011968 | HP:0008872 | |