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:0000347 | HP:0000347 | Micrognathia | 0 | A2ML1 CL E G H | 144568 | 648 | | | | ORPHA | 1 | | 1146 | 23336 | 610627 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ABCC9 CL E G H | 10060 | 965 | Brachydactyly dwarfism mental retardation | | | ORPHA | 1 | | 1266 | 60 | 601439 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 412 | 144 | 102560 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ADAMTS2 CL E G H | 9509 | 1901 | | | | ORPHA | 1 | | 1221 | 218 | 604539 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ADAMTS2 CL E G H | 9509 | 225410 | Ehlers-Danlos syndrome, type vii, autosomal recessive | 225410 | C2700425 | OMIM | 1 | | 1221 | 218 | 604539 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ADGRG6 CL E G H | 57211 | 616503 | Lethal congenital contracture syndrome 9 | 616503 | C4225303 | OMIM | 1 | | 96 | 13841 | 612243 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | AEBP1 CL E G H | 165 | 618000 | EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 | 618000 | CN248508 | OMIM | 1 | | 230 | 303 | 602981 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | AHDC1 CL E G H | 27245 | 615829 | Xia-Gibbs syndrome | 615829 | C4014419 | OMIM | 1 | | 455 | 25230 | 615790 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | AKT1 CL E G H | 207 | 615109 | Cowden syndrome 6 | 615109 | C3554519 | OMIM | 1 | | 634 | 391 | 164730 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ALG1 CL E G H | 56052 | 608540 | Congenital disorder of glycosylation type 1K | 608540 | C2931005 | OMIM | 1 | | 495 | 18294 | 605907 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ALX4 CL E G H | 60529 | 52022 | | | | ORPHA | 1 | | 251 | 450 | 605420 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 293 | 26837 | 300647 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | AMMECR1 CL E G H | 9949 | 300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | 300990 | C4310810 | OMIM | 1 | | 197 | 467 | 300195 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ANK1 CL E G H | 286 | 251066 | | | | ORPHA | 1 | | 642 | 492 | 612641 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ANKLE2 CL E G H | 23141 | 616681 | Microcephaly 16, primary, autosomal recessive | 616681 | C4225249 | OMIM | 1 | | 191 | 29101 | 616062 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ANKRD11 CL E G H | 29123 | 261250 | 16q24.3 microdeletion syndrome | | CN202174 | ORPHA | 1 | | 1515 | 21316 | 611192 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ANTXR1 CL E G H | 84168 | 2067 | | | | ORPHA | 1 | | 90 | 21014 | 606410 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ANTXR1 CL E G H | 84168 | 230740 | Odontotrichomelic syndrome | 230740 | C0406723 | OMIM | 1 | | 90 | 21014 | 606410 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 123 | 649 | 600820 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ARX CL E G H | 170302 | 300215 | Lissencephaly 2, X-linked | 300215 | C1846171 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 432 | 753 | 108370 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 292 | 25567 | 612316 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ATP7A CL E G H | 538 | 565 | | | | ORPHA | 1 | | 1283 | 869 | 300011 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ATR CL E G H | 545 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 2273 | 882 | 601215 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ATR CL E G H | 545 | 210600 | Seckel syndrome 1 | 210600 | CN033164 | OMIM | 1 | | 2273 | 882 | 601215 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ATRIP CL E G H | 84126 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 374 | 33499 | 606605 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ATRX CL E G H | 546 | 309580 | Mental retardation-hypotonic facies syndrome X-linked, 1 | 309580 | C0796003 | OMIM | 1 | | 1544 | 886 | 300032 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | AXIN2 CL E G H | 8313 | 99798 | | | | ORPHA | 1 | | 2777 | 904 | 604025 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 366 | 17978 | 615291 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | B3GLCT CL E G H | 145173 | 709 | | | | ORPHA | 1 | | 266 | 20207 | 610308 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 266 | 20207 | 610308 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 1 | | 253 | 24123 | 614144 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 1 | | 56 | 28636 | 611951 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | BANF1 CL E G H | 8815 | 614008 | Nestor-Guillermo progeria syndrome | 614008 | C3151446 | OMIM | 1 | | 47 | 17397 | 603811 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 196 | 961 | 605681 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | BCL11B CL E G H | 64919 | 617237 | Immunodeficiency 49 | 617237 | C4310656 | OMIM | 1 | | 330 | 13222 | 606558 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | BDNF CL E G H | 627 | 893 | | | | ORPHA | 1 | | 57 | 1033 | 113505 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | BICD2 CL E G H | 23299 | 618291 | 618291 | 618291 | | OMIM | 1 | | 590 | 17208 | 609797 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | BMPER CL E G H | 168667 | 608022 | Diaphanospondylodysostosis | 608022 | C1842691 | OMIM | 1 | | 244 | 24154 | 608699 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | BPTF CL E G H | 2186 | 529962 | | | | ORPHA | 1 | | 191 | 3581 | 601819 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | BRAF CL E G H | 673 | 648 | | | | ORPHA | 1 | | 948 | 1097 | 164757 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | BUB1 CL E G H | 699 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 789 | 1148 | 602452 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | BUB1B CL E G H | 701 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 1250 | 1149 | 602860 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | BUB1B CL E G H | 701 | 257300 | Mosaic variegated aneuploidy syndrome 1 | 257300 | CN031748 | OMIM | 1 | | 1250 | 1149 | 602860 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | BUB3 CL E G H | 9184 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 299 | 1151 | 603719 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | C12orf57 CL E G H | 113246 | 1777 | | | | ORPHA | 1 | | 248 | 29521 | 615140 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | C12orf57 CL E G H | 113246 | 218340 | Temtamy syndrome | 218340 | C1857512 | OMIM | 1 | | 248 | 29521 | 615140 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CASK CL E G H | 8573 | 163937 | | | | ORPHA | 1 | | 706 | 1497 | 300172 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CASK CL E G H | 8573 | 300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | 300749 | C2677903 | OMIM | 1 | | 706 | 1497 | 300172 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CC2D2A CL E G H | 57545 | 564 | | | | ORPHA | 1 | | 1176 | 29253 | 612013 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CD96 CL E G H | 10225 | 211750 | C syndrome | 211750 | C0796095 | OMIM | 1 | | 72 | 16892 | 606037 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CD96 CL E G H | 10225 | 1308 | Chorioretinopathy dominant form microcephaly | | | ORPHA | 1 | | 72 | 16892 | 606037 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CDC45 CL E G H | 8318 | 2554 | | | | ORPHA | 1 | | 567 | 1739 | 603465 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CDC6 CL E G H | 990 | 2554 | | | | ORPHA | 1 | | 104 | 1744 | 602627 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CDC6 CL E G H | 990 | 613805 | Meier-Gorlin syndrome 5 | 613805 | C3151126 | OMIM | 1 | | 104 | 1744 | 602627 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CDCA7 CL E G H | 83879 | 2268 | | | | ORPHA | 1 | | 145 | 14628 | 609937 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CDK5 CL E G H | 1020 | 616342 | Lissencephaly 7 with cerebellar hypoplasia | 616342 | C4225359 | OMIM | 1 | | 88 | 1774 | 123831 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CDT1 CL E G H | 81620 | 2554 | | | | ORPHA | 1 | | 326 | 24576 | 605525 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CDT1 CL E G H | 81620 | 613804 | Meier-Gorlin syndrome 4 | 613804 | C3151120 | OMIM | 1 | | 326 | 24576 | 605525 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CENPE CL E G H | 1062 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 272 | 1856 | 117143 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CENPE CL E G H | 1062 | 616051 | Primary autosomal recessive microcephaly 13 | 616051 | C4015080 | OMIM | 1 | | 272 | 1856 | 117143 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CENPJ CL E G H | 55835 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 438 | 17272 | 609279 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CEP152 CL E G H | 22995 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 450 | 29298 | 613529 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CEP152 CL E G H | 22995 | 613823 | Seckel syndrome 5 | 613823 | C3151187 | OMIM | 1 | | 450 | 29298 | 613529 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CEP290 CL E G H | 80184 | 564 | | | | ORPHA | 1 | | 2251 | 29021 | 610142 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CEP55 CL E G H | 55165 | 564 | | | | ORPHA | 1 | | 57 | 1161 | 610000 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CEP57 CL E G H | 9702 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 311 | 30794 | 607951 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 2318 | 20626 | 608892 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CHRNA1 CL E G H | 1134 | 608930 | Congenital myasthenic syndrome 1B, fast-channel | 608930 | C1837122 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CHRNA1 CL E G H | 1134 | 253290 | Lethal multiple pterygium syndrome | 253290 | C1854678 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CHRND CL E G H | 1144 | 253290 | Lethal multiple pterygium syndrome | 253290 | C1854678 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CHRNG CL E G H | 1146 | 2990 | | | | ORPHA | 1 | | 220 | 1967 | 100730 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CHRNG CL E G H | 1146 | 253290 | Lethal multiple pterygium syndrome | 253290 | C1854678 | OMIM | 1 | | 220 | 1967 | 100730 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CHRNG CL E G H | 1146 | 265000 | Multiple pterygium syndrome Escobar type | 265000 | C0265261 | OMIM | 1 | | 220 | 1967 | 100730 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 181 | 2586 | 603432 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CNTNAP1 CL E G H | 8506 | 618186 | Congenital hypomyelinating neuropathy 3 | 618186 | | OMIM | 1 | | 267 | 8011 | 602346 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COASY CL E G H | 80347 | 618266 | 618266 | 618266 | | OMIM | 1 | | 175 | 29932 | 609855 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COG1 CL E G H | 9382 | 611209 | COG1 congenital disorder of glycosylation | 611209 | C1970016 | OMIM | 1 | | 279 | 6545 | 606973 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COG4 CL E G H | 25839 | 618150 | SAUL-WILSON SYNDROME | 618150 | | OMIM | 1 | | 262 | 18620 | 606976 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 296 | 18622 | 606978 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL10A1 CL E G H | 1300 | 174 | Macrogyria, pseudobulbar palsy and mental retardation | | | ORPHA | 1 | | 295 | 2185 | 120110 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 1671 | 2186 | 120280 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL11A1 CL E G H | 1301 | 250984 | | | | ORPHA | 1 | | 1671 | 2186 | 120280 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL11A1 CL E G H | 1301 | 440354 | | | | ORPHA | 1 | | 1671 | 2186 | 120280 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL11A1 CL E G H | 1301 | 154780 | Marshall syndrome | 154780 | C0265235 | OMIM | 1 | | 1671 | 2186 | 120280 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL11A1 CL E G H | 1301 | 604841 | Stickler syndrome, type 2 | 604841 | C1858084 | OMIM | 1 | | 1671 | 2186 | 120280 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL11A2 CL E G H | 1302 | 166100 | | | | ORPHA | 1 | | 1240 | 2187 | 120290 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL11A2 CL E G H | 1302 | 614524 | Fibrochondrogenesis 2 | 614524 | C3281128 | OMIM | 1 | | 1240 | 2187 | 120290 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL11A2 CL E G H | 1302 | 3450 | Mehta Lewis Patton syndrome | | | ORPHA | 1 | | 1240 | 2187 | 120290 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL11A2 CL E G H | 1302 | 215150 | Otospondylomegaepiphyseal dysplasia | 215150 | C0432210 | OMIM | 1 | | 1240 | 2187 | 120290 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL12A1 CL E G H | 1303 | 75840 | | | | ORPHA | 1 | | 1944 | 2188 | 120320 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL13A1 CL E G H | 1305 | 616720 | Myasthenic syndrome, congenital, 19 | 616720 | C4225235 | OMIM | 1 | | 397 | 2190 | 120350 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL1A1 CL E G H | 1277 | 1899 | | | | ORPHA | 1 | | 2016 | 2197 | 120150 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL1A1 CL E G H | 1277 | 259420 | Osteogenesis imperfecta type III | 259420 | C0268362 | OMIM | 1 | | 2016 | 2197 | 120150 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL1A2 CL E G H | 1278 | 1899 | | | | ORPHA | 1 | | 1458 | 2198 | 120160 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL1A2 CL E G H | 1278 | 259420 | Osteogenesis imperfecta type III | 259420 | C0268362 | OMIM | 1 | | 1458 | 2198 | 120160 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL2A1 CL E G H | 1280 | 93296 | | | | ORPHA | 1 | | 1820 | 2200 | 120140 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL2A1 CL E G H | 1280 | 3450 | Mehta Lewis Patton syndrome | | | ORPHA | 1 | | 1820 | 2200 | 120140 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL3A1 CL E G H | 1281 | 2500 | Glucocorticoid sensitive hypertension | | | ORPHA | 1 | | 2274 | 2201 | 120180 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL6A1 CL E G H | 1291 | 75840 | | | | ORPHA | 1 | | 1470 | 2211 | 120220 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL6A2 CL E G H | 1292 | 75840 | | | | ORPHA | 1 | | 1644 | 2212 | 120240 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL6A3 CL E G H | 1293 | 75840 | | | | ORPHA | 1 | | 2414 | 2213 | 120250 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL9A1 CL E G H | 1297 | 250984 | | | | ORPHA | 1 | | 892 | 2217 | 120210 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL9A2 CL E G H | 1298 | 250984 | | | | ORPHA | 1 | | 604 | 2218 | 120260 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COL9A3 CL E G H | 1299 | 250984 | | | | ORPHA | 1 | | 907 | 2219 | 120270 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | COX7B CL E G H | 1349 | 2556 | | | | ORPHA | 1 | | 173 | 2291 | 300885 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CPLANE1 CL E G H | 65250 | 2754 | | | | ORPHA | 1 | | 1426 | 25801 | 614571 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CPLANE1 CL E G H | 65250 | 277170 | Orofaciodigital syndrome 6 | 277170 | C2745997 | OMIM | 1 | | 1426 | 25801 | 614571 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 167 | 2309 | 605032 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CRLF1 CL E G H | 9244 | 272430 | Cold-induced sweating syndrome 1 | 272430 | C1848947 | OMIM | 1 | | 80 | 2364 | 604237 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CSNK2A1 CL E G H | 1457 | 617062 | Okur-chung neurodevelopmental syndrome | 617062 | C4310739 | OMIM | 1 | | 196 | 2457 | 115440 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CSPP1 CL E G H | 79848 | 564 | | | | ORPHA | 1 | | 793 | 26193 | 611654 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 217 | 2494 | 602618 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CTDP1 CL E G H | 9150 | 48431 | | | | ORPHA | 1 | | 383 | 2498 | 604927 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CTSK CL E G H | 1513 | 265800 | Pyknodysostosis | 265800 | C0238402 | OMIM | 1 | | 235 | 2536 | 601105 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CTU2 CL E G H | 348180 | 618142 | MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME | 618142 | | OMIM | 1 | | 173 | 28005 | 617057 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 1 | | 244 | 10664 | 617170 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | D2HGDH CL E G H | 728294 | 600721 | D-2-hydroxyglutaric aciduria 1 | 600721 | C3152055 | OMIM | 1 | | 394 | 28358 | 609186 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 636 | 13681 | 603057 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DDR2 CL E G H | 4921 | 271665 | Spondylometaepiphyseal dysplasia short limb-hand type | 271665 | C1849011 | OMIM | 1 | | 266 | 2731 | 191311 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 452 | 14677 | 602635 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 1 | | 216 | 2859 | 606418 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DHCR7 CL E G H | 1717 | 818 | | | | ORPHA | 1 | | 648 | 2860 | 602858 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 648 | 2860 | 602858 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DHODH CL E G H | 1723 | 263750 | Miller syndrome | 263750 | C0265257 | OMIM | 1 | | 161 | 2867 | 126064 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DHODH CL E G H | 1723 | 246 | Schisis association | | | ORPHA | 1 | | 161 | 2867 | 126064 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DIS3L2 CL E G H | 129563 | 2849 | | | | ORPHA | 1 | | 1714 | 28648 | 614184 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DIS3L2 CL E G H | 129563 | 267000 | Renal hamartomas nephroblastomatosis and fetal gigantism | 267000 | C0796113 | OMIM | 1 | | 1714 | 28648 | 614184 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DNA2 CL E G H | 1763 | 615807 | Seckel syndrome 8 | 615807 | C3891452 | OMIM | 1 | | 331 | 2939 | 601810 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DNAJC21 CL E G H | 134218 | 617052 | Bone marrow failure syndrome 3 | 617052 | C4310744 | OMIM | 1 | | 236 | 27030 | 617048 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DNMT3B CL E G H | 1789 | 2268 | | | | ORPHA | 1 | | 463 | 2979 | 602900 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DNMT3B CL E G H | 1789 | 242860 | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | 242860 | C0398788 | OMIM | 1 | | 463 | 2979 | 602900 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DOCK6 CL E G H | 57572 | 614219 | Adams-Oliver syndrome 2 | 614219 | C3280182 | OMIM | 1 | | 561 | 19189 | 614194 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DOK7 CL E G H | 285489 | 994 | | | | ORPHA | 1 | | 840 | 26594 | 610285 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DOK7 CL E G H | 285489 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 840 | 26594 | 610285 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DPAGT1 CL E G H | 1798 | 86309 | | | | ORPHA | 1 | | 258 | 2995 | 191350 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DPAGT1 CL E G H | 1798 | 608093 | Congenital disorder of glycosylation type 1J | 608093 | C2931004 | OMIM | 1 | | 258 | 2995 | 191350 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DPH1 CL E G H | 1801 | 616901 | Developmental delay with short stature, dysmorphic features, and sparse hair | 616901 | C4310801 | OMIM | 1 | | 106 | 3003 | 603527 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DPM1 CL E G H | 8813 | 608799 | Congenital disorder of glycosylation type 1E | 608799 | C1837396 | OMIM | 1 | | 203 | 3005 | 603503 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DPM2 CL E G H | 8818 | 615042 | Congenital disorder of glycosylation type 1u | 615042 | C3554385 | OMIM | 1 | | 138 | 3006 | 603564 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DSTYK CL E G H | 25778 | 270750 | Spastic paraplegia 23 | 270750 | C0796019 | OMIM | 1 | | 102 | 29043 | 612666 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DVL1 CL E G H | 1855 | 3107 | | | | ORPHA | 1 | | 492 | 3084 | 601365 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DVL1 CL E G H | 1855 | 180700 | Robinow syndrome | 180700 | C0265205 | OMIM | 1 | | 492 | 3084 | 601365 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DVL3 CL E G H | 1857 | 3107 | | | | ORPHA | 1 | | 189 | 3087 | 601368 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DVL3 CL E G H | 1857 | 180700 | Robinow syndrome | 180700 | C0265205 | OMIM | 1 | | 189 | 3087 | 601368 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DVL3 CL E G H | 1857 | 616894 | Robinow syndrome, autosomal dominant 3 | 616894 | C4225164 | OMIM | 1 | | 189 | 3087 | 601368 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DYNC2H1 CL E G H | 79659 | 93271 | | | | ORPHA | 1 | | 1521 | 2962 | 603297 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | DZIP1L CL E G H | 199221 | 731 | | | | ORPHA | 1 | | 90 | 26551 | 617570 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ECEL1 CL E G H | 9427 | 615065 | Distal arthrogryposis type 5D | 615065 | C3554415 | OMIM | 1 | | 170 | 3147 | 605896 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | EDA CL E G H | 1896 | 99798 | | | | ORPHA | 1 | | 529 | 3157 | 300451 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | EDARADD CL E G H | 128178 | 99798 | | | | ORPHA | 1 | | 202 | 14341 | 606603 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | EDN1 CL E G H | 1906 | 615706 | Auriculocondylar syndrome 3 | 615706 | C3810332 | OMIM | 1 | | 52 | 3176 | 131240 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | EDNRA CL E G H | 1909 | 616367 | Mandibulofacial dysostosis with alopecia | 616367 | C4225349 | OMIM | 1 | | 79 | 3179 | 131243 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | EED CL E G H | 8726 | 3447 | | | | ORPHA | 1 | | 97 | 3188 | 605984 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | EFEMP2 CL E G H | 30008 | 614437 | Autosomal recessive cutis laxa type 1B | 614437 | C3280798 | OMIM | 1 | | 358 | 3219 | 604633 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | EFTUD2 CL E G H | 9343 | 79113 | | | | ORPHA | 1 | | 363 | 30858 | 603892 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | EFTUD2 CL E G H | 9343 | 610536 | Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | 610536 | C1864652 | OMIM | 1 | | 363 | 30858 | 603892 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | EMG1 CL E G H | 10436 | 1270 | | | | ORPHA | 1 | | 68 | 16912 | 611531 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | EMG1 CL E G H | 10436 | 211180 | Bowen-Conradi syndrome | 211180 | C1859405 | OMIM | 1 | | 68 | 16912 | 611531 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | EP300 CL E G H | 2033 | 613684 | Rubinstein-Taybi syndrome 2 | 613684 | C3150941 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | EPG5 CL E G H | 57724 | 242840 | Vici syndrome | 242840 | C1855772 | OMIM | 1 | | 1213 | 29331 | 615068 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ERBB3 CL E G H | 2065 | 607598 | Lethal congenital contracture syndrome 2 | 607598 | C1843478 | OMIM | 1 | | 97 | 3431 | 190151 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 113 | 3433 | 126380 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ERCC1 CL E G H | 2067 | 610758 | Cerebrooculofacioskeletal syndrome 4 | 610758 | C1853100 | OMIM | 1 | | 113 | 3433 | 126380 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ERCC2 CL E G H | 2068 | 610756 | Cerebrooculofacioskeletal syndrome 2 | 610756 | C1853102 | OMIM | 1 | | 1196 | 3434 | 126340 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ERCC5 CL E G H | 2073 | 616570 | Cerebrooculofacioskeletal syndrome 3 | 616570 | C1851443 | OMIM | 1 | | 425 | 3437 | 133530 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1170 | 3438 | 609413 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ERMARD CL E G H | 55780 | 75857 | | | | ORPHA | 1 | | 238 | 21056 | 615532 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ESCO2 CL E G H | 157570 | 3103 | | | | ORPHA | 1 | | 435 | 27230 | 609353 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ESCO2 CL E G H | 157570 | 268300 | Roberts-SC phocomelia syndrome | 268300 | C0392475 | OMIM | 1 | | 435 | 27230 | 609353 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ESCO2 CL E G H | 157570 | 269000 | Roberts-SC phocomelia syndrome | 269000 | C0392475 | OMIM | 1 | | 435 | 27230 | 609353 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | EXT2 CL E G H | 2132 | 52022 | | | | ORPHA | 1 | | 532 | 3513 | 608210 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | EZH2 CL E G H | 2146 | 3447 | | | | ORPHA | 1 | | 416 | 3527 | 601573 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FAM20C CL E G H | 56975 | 1832 | Diabetes hypogonadism deafness mental retardation | | | ORPHA | 1 | | 350 | 22140 | 611061 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 1 | | 350 | 22140 | 611061 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FAT4 CL E G H | 79633 | 615546 | Van Maldergem syndrome 2 | 615546 | C3809875 | OMIM | 1 | | 1312 | 23109 | 612411 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FBN1 CL E G H | 2200 | 2462 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FBN1 CL E G H | 2200 | 284979 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FBN1 CL E G H | 2200 | 154700 | Marfan syndrome | 154700 | C0024796 | OMIM | 1 | | 5970 | 3603 | 134797 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FGF3 CL E G H | 2248 | 90024 | | | | ORPHA | 1 | | 80 | 3681 | 164950 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FGF3 CL E G H | 2248 | 610706 | Deafness with labyrinthine aplasia microtia and microdontia (LAMM) | 610706 | C1853144 | OMIM | 1 | | 80 | 3681 | 164950 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FGFR1 CL E G H | 2260 | 2645 | | | | ORPHA | 1 | | 688 | 3688 | 136350 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FGFR1 CL E G H | 2260 | 99798 | | | | ORPHA | 1 | | 688 | 3688 | 136350 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FGFR2 CL E G H | 2263 | 313855 | | | | ORPHA | 1 | | 567 | 3689 | 176943 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FGFR2 CL E G H | 2263 | 614592 | Bent bone dysplasia syndrome | 614592 | C3281247 | OMIM | 1 | | 567 | 3689 | 176943 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 288 | 3693 | 605830 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FIG4 CL E G H | 9896 | 3472 | Meningococcemia | | | ORPHA | 1 | | 749 | 16873 | 609390 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FIG4 CL E G H | 9896 | 216340 | Yunis Varon syndrome | 216340 | C1857663 | OMIM | 1 | | 749 | 16873 | 609390 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FLCN CL E G H | 201163 | 610883 | Chromosome 17, trisomy 17p11 2 | 610883 | C2931246 | OMIM | 1 | | 1833 | 27310 | 607273 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 1 | | 154 | 3750 | 600362 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FLNA CL E G H | 2316 | 90652 | | | | ORPHA | 1 | | 2538 | 3754 | 300017 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FLNA CL E G H | 2316 | 1826 | Dexamethasone sensitive hypertension | | | ORPHA | 1 | | 2538 | 3754 | 300017 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FLNA CL E G H | 2316 | 2484 | Glaucoma type 1C | | | ORPHA | 1 | | 2538 | 3754 | 300017 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FLNA CL E G H | 2316 | 309350 | Melnick-Needles syndrome | 309350 | C0025237 | OMIM | 1 | | 2538 | 3754 | 300017 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FLNA CL E G H | 2316 | 304120 | Oto-palato-digital syndrome, type II | 304120 | C1844696 | OMIM | 1 | | 2538 | 3754 | 300017 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FLNB CL E G H | 2317 | 108720 | Atelosteogenesis type 1 | 108720 | C0265283 | OMIM | 1 | | 1155 | 3755 | 603381 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FLNB CL E G H | 2317 | 108721 | Atelosteogenesis type 3 | 108721 | C3668942 | OMIM | 1 | | 1155 | 3755 | 603381 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FLVCR2 CL E G H | 55640 | 225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | 225790 | C1856972 | OMIM | 1 | | 141 | 20105 | 610865 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | FZD2 CL E G H | 2535 | 3107 | | | | ORPHA | 1 | | 80 | 4040 | 600667 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | GATA4 CL E G H | 2626 | 251071 | | | | ORPHA | 1 | | 630 | 4173 | 600576 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | GBA CL E G H | 2629 | 608013 | Gaucher disease, perinatal lethal | 608013 | C1842704 | OMIM | 1 | | | 4177 | 606463 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | GHR CL E G H | 2690 | 633 | | | | ORPHA | 1 | | 264 | 4263 | 600946 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | GJA1 CL E G H | 2697 | 257850 | Oculodentodigital dysplasia, autosomal recessive | 257850 | C2749477 | OMIM | 1 | | 221 | 4274 | 121014 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | GLE1 CL E G H | 2733 | 1486 | Congenital herpes simplex | | | ORPHA | 1 | | 382 | 4315 | 603371 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | GLE1 CL E G H | 2733 | 253310 | Lethal congenital contracture syndrome 1 | 253310 | C1854664 | OMIM | 1 | | 382 | 4315 | 603371 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | GMNN CL E G H | 51053 | 2554 | | | | ORPHA | 1 | | 54 | 17493 | 602842 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | GNPAT CL E G H | 8443 | 222765 | Rhizomelic chondrodysplasia punctata type 2 | 222765 | C1857242 | OMIM | 1 | | 261 | 4416 | 602744 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | GPC6 CL E G H | 10082 | 93329 | | | | ORPHA | 1 | | 338 | 4454 | 604404 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | GPC6 CL E G H | 10082 | 258315 | Omodysplasia 1 | 258315 | C1850318 | OMIM | 1 | | 338 | 4454 | 604404 |
HP:0000347 | HP:0000347 | Micrognathia | 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:0000347 | HP:0000347 | Micrognathia | 0 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 163 | 4659 | 601679 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 218 | 4661 | 604318 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | H19 CL E G H | 283120 | 180860 | Russell-Silver syndrome | 180860 | C0175693 | OMIM | 1 | | 58 | 4713 | 103280 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | HBA1 CL E G H | 3039 | 98791 | | | | ORPHA | 1 | | 379 | 4823 | 141800 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | HBA2 CL E G H | 3040 | 98791 | | | | ORPHA | 1 | | 333 | 4824 | 141850 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | HCCS CL E G H | 3052 | 2556 | | | | ORPHA | 1 | | 218 | 4837 | 300056 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | HDAC8 CL E G H | 55869 | 3459 | | | | ORPHA | 1 | | 322 | 13315 | 300269 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 322 | 13315 | 300269 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | HELLS CL E G H | 3070 | 2268 | | | | ORPHA | 1 | | 194 | 4861 | 603946 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | HNRNPH2 CL E G H | 3188 | 300986 | Mental retardation, X-linked, syndromic, Bain type | 300986 | C4310814 | OMIM | 1 | | 186 | 5042 | 300610 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | HNRNPU CL E G H | 3192 | 238769 | | | | ORPHA | 1 | | 692 | 5048 | 602869 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 547 | 5173 | 190020 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 786 | 5213 | 601860 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | HSPG2 CL E G H | 3339 | 1865 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | HSPG2 CL E G H | 3339 | 224410 | Lethal Kniest-like syndrome | 224410 | C0432208 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | HYLS1 CL E G H | 219844 | 2189 | | | | ORPHA | 1 | | 229 | 26558 | 610693 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | HYMAI CL E G H | 57061 | 96191 | | | | ORPHA | 1 | | 17 | 5326 | 606546 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | HYOU1 CL E G H | 10525 | 233600 | Granulocytopenia with immunoglobulin abnormality | 233600 | C1856263 | OMIM | 1 | | 298 | 16931 | 601746 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ICK CL E G H | 22858 | 612651 | Endocrine-cerebroosteodysplasia | 612651 | C2675227 | OMIM | 1 | | | 21219 | 612325 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | IDUA CL E G H | 3425 | 607015 | Mucopolysaccharidosis, MPS-I-H/S | 607015 | C0086431 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | IFT80 CL E G H | 57560 | 93271 | | | | ORPHA | 1 | | 466 | 29262 | 611177 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | IGF1 CL E G H | 3479 | 73272 | | | | ORPHA | 1 | | 183 | 5464 | 147440 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | IGF1 CL E G H | 3479 | 608747 | Insulin-like growth factor I deficiency | 608747 | C1837475 | OMIM | 1 | | 183 | 5464 | 147440 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 713 | 5465 | 147370 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | IGF2 CL E G H | 3481 | 180860 | Russell-Silver syndrome | 180860 | C0175693 | OMIM | 1 | | 98 | 5466 | 147470 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | IGFALS CL E G H | 3483 | 140941 | | | | ORPHA | 1 | | 165 | 5468 | 601489 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | IMPAD1 CL E G H | 54928 | 614078 | Chondrodysplasia with joint dislocations, GPAPP type | 614078 | C3279757 | OMIM | 1 | | | 26019 | 614010 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 1 | | 955 | 29059 | 300522 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | IRF6 CL E G H | 3664 | 1300 | | | | ORPHA | 1 | | 278 | 6121 | 607199 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | IRF6 CL E G H | 3664 | 99798 | | | | ORPHA | 1 | | 278 | 6121 | 607199 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | KAT6B CL E G H | 23522 | 648 | | | | ORPHA | 1 | | 605 | 17582 | 605880 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | KAT6B CL E G H | 23522 | 3047 | | | | ORPHA | 1 | | 605 | 17582 | 605880 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | KAT6B CL E G H | 23522 | 85201 | | | | ORPHA | 1 | | 605 | 17582 | 605880 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | KAT6B CL E G H | 23522 | 606170 | Genitopatellar syndrome | 606170 | C1853566 | OMIM | 1 | | 605 | 17582 | 605880 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | KAT6B CL E G H | 23522 | 603736 | Young Simpson syndrome | 603736 | C1863557 | OMIM | 1 | | 605 | 17582 | 605880 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 122 | 6267 | 600877 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | KCNJ6 CL E G H | 3763 | 614098 | Keppen-Lubinsky syndrome | 614098 | C3279800 | OMIM | 1 | | 122 | 6267 | 600877 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | KDM5C CL E G H | 8242 | 300534 | Mental retardation, syndromic, Claes-Jensen type, X-linked | 300534 | C1845243 | OMIM | 1 | | 596 | 11114 | 314690 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | KIAA0753 CL E G H | 9851 | 2754 | | | | ORPHA | 1 | | 217 | 29110 | 617112 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | KIF7 CL E G H | 374654 | 2189 | | | | ORPHA | 1 | | 977 | 30497 | 611254 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | KIF7 CL E G H | 374654 | 2754 | | | | ORPHA | 1 | | 977 | 30497 | 611254 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | KIF7 CL E G H | 374654 | 614120 | Hydrolethalus syndrome 2 | 614120 | C3279899 | OMIM | 1 | | 977 | 30497 | 611254 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1317 | 7132 | 159555 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | KNL1 CL E G H | 57082 | 604321 | Primary autosomal recessive microcephaly 4 | 604321 | C1858516 | OMIM | 1 | | 319 | 24054 | 609173 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | KRAS CL E G H | 3845 | 648 | | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LAGE3 CL E G H | 8270 | 301006 | GALLOWAY-MOWAT SYNDROME 2, X-LINKED | 301006 | C4538784 | OMIM | 1 | | 233 | 26058 | 300060 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LAS1L CL E G H | 81887 | 3459 | | | | ORPHA | 1 | | 243 | 25726 | 300964 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LBR CL E G H | 3930 | 1426 | Coleman Randall syndrome | | | ORPHA | 1 | | 285 | 6518 | 600024 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LBR CL E G H | 3930 | 215140 | Greenberg dysplasia | 215140 | C2931048 | OMIM | 1 | | 285 | 6518 | 600024 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LETM1 CL E G H | 3954 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 263 | 6556 | 604407 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LETM1 CL E G H | 3954 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 263 | 6556 | 604407 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LGI4 CL E G H | 163175 | 617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | 617468 | C4479539 | OMIM | 1 | | 79 | 18712 | 608303 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LIFR CL E G H | 3977 | 601559 | Stuve-Wiedemann syndrome | 601559 | C0796176 | OMIM | 1 | | 721 | 6597 | 151443 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LIG4 CL E G H | 3981 | 235 | | | | ORPHA | 1 | | 510 | 6601 | 601837 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LIG4 CL E G H | 3981 | 99812 | | | | ORPHA | 1 | | 510 | 6601 | 601837 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LIMK1 CL E G H | 3984 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 201 | 6613 | 601329 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LMNA CL E G H | 4000 | 1662 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LMNA CL E G H | 4000 | 79474 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LMNA CL E G H | 4000 | 280365 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LMNA CL E G H | 4000 | 176670 | Hutchinson-Gilford syndrome | 176670 | C0033300 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LMNA CL E G H | 4000 | 275210 | Lethal tight skin contracture syndrome | 275210 | C0406585 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LMNA CL E G H | 4000 | 248370 | Mandibuloacral dysostosis | 248370 | C0432291 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LRP4 CL E G H | 4038 | 212780 | Syndactyly Cenani Lenz type | 212780 | C1859309 | OMIM | 1 | | 790 | 6696 | 604270 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LRP6 CL E G H | 4040 | 99798 | | | | ORPHA | 1 | | 253 | 6698 | 603507 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LTBP4 CL E G H | 8425 | 613177 | Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | 613177 | C2750804 | OMIM | 1 | | 540 | 6717 | 604710 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | LZTR1 CL E G H | 8216 | 648 | | | | ORPHA | 1 | | 2408 | 6742 | 600574 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MAFB CL E G H | 9935 | 2774 | Hydrocephalus growth retardation skeletal anomalies | | | ORPHA | 1 | | 119 | 6408 | 608968 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MAFB CL E G H | 9935 | 166300 | Multicentric osteolysis nephropathy | 166300 | C2674705 | OMIM | 1 | | 119 | 6408 | 608968 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MAP2K1 CL E G H | 5604 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 398 | 6840 | 176872 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MAP3K7 CL E G H | 6885 | 1826 | Dexamethasone sensitive hypertension | | | ORPHA | 1 | | 161 | 6859 | 602614 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MAPRE2 CL E G H | 10982 | 616734 | Skin creases, congenital symmetric circumferential, 2 | 616734 | C4225225 | OMIM | 1 | | 64 | 6891 | 605789 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MBD5 CL E G H | 55777 | 156200 | Mental retardation, autosomal dominant 1 | 156200 | C1969562 | OMIM | 1 | | 1149 | 20444 | 611472 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MCTP2 CL E G H | 55784 | 1596 | | | | ORPHA | 1 | | 103 | 25636 | 616297 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MECP2 CL E G H | 4204 | 300055 | Mental retardation, X-linked, syndromic 13 | 300055 | C1968550 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MED12 CL E G H | 9968 | 776 | | | | ORPHA | 1 | | 1236 | 11957 | 300188 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MED12 CL E G H | 9968 | 305450 | FG syndrome | 305450 | C0220769 | OMIM | 1 | | 1236 | 11957 | 300188 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MED12 CL E G H | 9968 | 300895 | Ohdo syndrome, X-linked | 300895 | C3698541 | OMIM | 1 | | 1236 | 11957 | 300188 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MED12 CL E G H | 9968 | 309520 | X-linked mental retardation with marfanoid habitus syndrome | 309520 | C0796022 | OMIM | 1 | | 1236 | 11957 | 300188 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MITF CL E G H | 4286 | 617306 | Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | 617306 | C4310625 | OMIM | 1 | | 394 | 7105 | 156845 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MKS1 CL E G H | 54903 | 564 | | | | ORPHA | 1 | | 662 | 7121 | 609883 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MKS1 CL E G H | 54903 | 249000 | Meckel syndrome type 1 | 249000 | C3714506 | OMIM | 1 | | 662 | 7121 | 609883 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MMP2 CL E G H | 4313 | 259600 | Multicentric osteolysis, nodulosis and arthropathy | 259600 | C1850155 | OMIM | 1 | | 271 | 7166 | 120360 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MSTO1 CL E G H | 55154 | 502423 | | | | ORPHA | 1 | | 85 | 29678 | 617619 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MSTO1 CL E G H | 55154 | 617675 | MYOPATHY, MITOCHONDRIAL, AND ATAXIA | 617675 | C4540096 | OMIM | 1 | | 85 | 29678 | 617619 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MSX1 CL E G H | 4487 | 99798 | | | | ORPHA | 1 | | 163 | 7391 | 142983 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MUSK CL E G H | 4593 | 994 | | | | ORPHA | 1 | | 496 | 7525 | 601296 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MUSK CL E G H | 4593 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 496 | 7525 | 601296 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MYCN CL E G H | 4613 | 164280 | Feingold syndrome 1 | 164280 | C0796068 | OMIM | 1 | | 146 | 7559 | 164840 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MYH3 CL E G H | 4621 | 1147 | | | | ORPHA | 1 | | 641 | 7573 | 160720 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MYH3 CL E G H | 4621 | 601680 | Distal arthrogryposis type 2B | 601680 | C1834523 | OMIM | 1 | | 641 | 7573 | 160720 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MYH8 CL E G H | 4626 | 158300 | Hecht syndrome | 158300 | C0265226 | OMIM | 1 | | 289 | 7578 | 160741 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 1 | | 75 | 33778 | 615345 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MYMK CL E G H | 389827 | 254940 | Congenital nonprogressive myopathy with Moebius and Robin sequences | 254940 | C1850746 | OMIM | 1 | | 75 | 33778 | 615345 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MYO18B CL E G H | 84700 | 616549 | Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism | 616549 | C4225285 | OMIM | 1 | | 1162 | 18150 | 607295 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | MYOD1 CL E G H | 4654 | 994 | | | | ORPHA | 1 | | 35 | 7611 | 159970 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NALCN CL E G H | 259232 | 1147 | | | | ORPHA | 1 | | 653 | 19082 | 611549 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NALCN CL E G H | 259232 | 616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | 616266 | C4225398 | OMIM | 1 | | 653 | 19082 | 611549 |
HP:0000347 | HP:0000347 | Micrognathia | 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:0000347 | HP:0000347 | Micrognathia | 0 | NBN CL E G H | 4683 | 251260 | Microcephaly, normal intelligence and immunodeficiency | 251260 | C0398791 | OMIM | 1 | | 3074 | 7652 | 602667 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NDUFB11 CL E G H | 54539 | 2556 | | | | ORPHA | 1 | | 180 | 20372 | 300403 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NECTIN1 CL E G H | 5818 | 3253 | Limb dystonia | | | ORPHA | 1 | | 208 | 9706 | 600644 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NEDD4L CL E G H | 23327 | 617201 | Periventricular nodular heterotopia 7 | 617201 | C4310669 | OMIM | 1 | | 738 | 7728 | 606384 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NEK9 CL E G H | 91754 | 617022 | Lethal congenital contracture syndrome 10 | 617022 | C4310760 | OMIM | 1 | | 82 | 18591 | 609798 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NELFA CL E G H | 7469 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 174 | 12768 | 606026 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NIPBL CL E G H | 25836 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1201 | 28862 | 608667 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NIPBL CL E G H | 25836 | 122470 | Cornelia de Lange syndrome 1 | 122470 | CN029798 | OMIM | 1 | | 1201 | 28862 | 608667 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NOTCH2 CL E G H | 4853 | 955 | | | | ORPHA | 1 | | 750 | 7882 | 600275 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NOTCH2 CL E G H | 4853 | 102500 | Hajdu-Cheney syndrome | 102500 | C0917715 | OMIM | 1 | | 750 | 7882 | 600275 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NOTCH3 CL E G H | 4854 | 2789 | | | | ORPHA | 1 | | 1133 | 7883 | 600276 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NOTCH3 CL E G H | 4854 | 130720 | Lehman syndrome | 130720 | C1851710 | OMIM | 1 | | 1133 | 7883 | 600276 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NRAS CL E G H | 4893 | 648 | | | | ORPHA | 1 | | 250 | 7989 | 164790 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NSD1 CL E G H | 64324 | 3447 | | | | ORPHA | 1 | | 1390 | 14234 | 606681 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NSD2 CL E G H | 7468 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 363 | 12766 | 602952 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NSD2 CL E G H | 7468 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 363 | 12766 | 602952 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NSDHL CL E G H | 50814 | 300831 | NSDHL-Related Disorders | 300831 | C3151781 | OMIM | 1 | | 312 | 13398 | 300275 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NSMCE2 CL E G H | 286053 | 436182 | | | | ORPHA | 1 | | 86 | 26513 | 617246 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NSUN2 CL E G H | 54888 | 235 | | | | ORPHA | 1 | | 443 | 25994 | 610916 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NUP107 CL E G H | 57122 | 616730 | Nephrotic syndrome, type 11 | 616730 | C4225228 | OMIM | 1 | | 149 | 29914 | 607617 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | NXN CL E G H | 64359 | 1507 | Congenital unilateral pulmonary hypoplasia | | | ORPHA | 1 | | 235 | 18008 | 612895 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | OFD1 CL E G H | 8481 | 2754 | | | | ORPHA | 1 | | 789 | 2567 | 300170 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ORC1 CL E G H | 4998 | 2554 | | | | ORPHA | 1 | | 214 | 8487 | 601902 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ORC1 CL E G H | 4998 | 224690 | Meier-Gorlin syndrome 1 | 224690 | CN030358 | OMIM | 1 | | 214 | 8487 | 601902 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ORC4 CL E G H | 5000 | 2554 | | | | ORPHA | 1 | | 166 | 8490 | 603056 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ORC4 CL E G H | 5000 | 613800 | Meier-Gorlin syndrome 2 | 613800 | C3151097 | OMIM | 1 | | 166 | 8490 | 603056 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ORC6 CL E G H | 23594 | 2554 | | | | ORPHA | 1 | | 131 | 17151 | 607213 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | OSGEP CL E G H | 55644 | 617729 | GALLOWAY-MOWAT SYNDROME 3 | 617729 | C4540266 | OMIM | 1 | | 106 | 18028 | 610107 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | OSTM1 CL E G H | 28962 | 259720 | Osteopetrosis, autosomal recessive 5 | 259720 | C1968603 | OMIM | 1 | | 218 | 21652 | 607649 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | P4HB CL E G H | 5034 | 112240 | Cole-Carpenter syndrome 1 | 112240 | C4317154 | OMIM | 1 | | 167 | 8548 | 176790 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | P4HB CL E G H | 5034 | 2050 | Ectodermal dysplasia Margarita type | | | ORPHA | 1 | | 167 | 8548 | 176790 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PAX6 CL E G H | 5080 | 893 | | | | ORPHA | 1 | | 688 | 8620 | 607108 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PAX9 CL E G H | 5083 | 99798 | | | | ORPHA | 1 | | 179 | 8623 | 167416 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PCNT CL E G H | 5116 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 1505 | 16068 | 605925 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PDE6D CL E G H | 5147 | 2754 | | | | ORPHA | 1 | | 71 | 8788 | 602676 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PDGFRB CL E G H | 5159 | 601812 | Premature aging syndrome, Penttinen type | 601812 | C1866182 | OMIM | 1 | | 345 | 8804 | 173410 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PEPD CL E G H | 5184 | 742 | Aortic dissection lentiginosis | | | ORPHA | 1 | | 362 | 8840 | 613230 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PEX1 CL E G H | 5189 | 912 | | | | ORPHA | 1 | | 1205 | 8850 | 602136 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PEX1 CL E G H | 5189 | 214100 | Zellweger syndrome | 214100 | C0043459 | OMIM | 1 | | 1205 | 8850 | 602136 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PEX10 CL E G H | 5192 | 912 | | | | ORPHA | 1 | | 654 | 8851 | 602859 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PEX11B CL E G H | 8799 | 912 | | | | ORPHA | 1 | | 350 | 8853 | 603867 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PEX12 CL E G H | 5193 | 912 | | | | ORPHA | 1 | | 360 | 8854 | 601758 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PEX13 CL E G H | 5194 | 912 | | | | ORPHA | 1 | | 397 | 8855 | 601789 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PEX14 CL E G H | 5195 | 912 | | | | ORPHA | 1 | | 374 | 8856 | 601791 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PEX14 CL E G H | 5195 | 614887 | Peroxisome biogenesis disorder 13A | 614887 | C3554004 | OMIM | 1 | | 374 | 8856 | 601791 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PEX16 CL E G H | 9409 | 912 | | | | ORPHA | 1 | | 346 | 8857 | 603360 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PEX19 CL E G H | 5824 | 912 | | | | ORPHA | 1 | | 304 | 9713 | 600279 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PEX2 CL E G H | 5828 | 912 | | | | ORPHA | 1 | | 366 | 9717 | 170993 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PEX2 CL E G H | 5828 | 614866 | Peroxisome biogenesis disorder 5a (zellweger) | 614866 | C3553940 | OMIM | 1 | | 366 | 9717 | 170993 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PEX26 CL E G H | 55670 | 912 | | | | ORPHA | 1 | | 431 | 22965 | 608666 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PEX3 CL E G H | 8504 | 912 | | | | ORPHA | 1 | | 271 | 8858 | 603164 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PEX3 CL E G H | 8504 | 614882 | Peroxisome biogenesis disorder 10A | 614882 | C3553999 | OMIM | 1 | | 271 | 8858 | 603164 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PEX5 CL E G H | 5830 | 912 | | | | ORPHA | 1 | | 689 | 9719 | 600414 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PEX6 CL E G H | 5190 | 912 | | | | ORPHA | 1 | | 1085 | 8859 | 601498 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PEX7 CL E G H | 5191 | 215100 | Rhizomelic chondrodysplasia punctata type 1 | 215100 | C1859133 | OMIM | 1 | | 441 | 8860 | 601757 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PHF21A CL E G H | 51317 | 52022 | | | | ORPHA | 1 | | 92 | 24156 | 608325 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PHGDH CL E G H | 26227 | 256520 | Neu-Laxova syndrome 1 | 256520 | CN032230 | OMIM | 1 | | 519 | 8923 | 606879 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PHIP CL E G H | 55023 | 617991 | DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES | 617991 | CN248510 | OMIM | 1 | | 249 | 15673 | 612870 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PI4KA CL E G H | 5297 | 616531 | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | 616531 | C4225295 | OMIM | 1 | | 631 | 8983 | 600286 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PIEZO2 CL E G H | 63895 | 2461 | | | | ORPHA | 1 | | 755 | 26270 | 613629 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PIEZO2 CL E G H | 63895 | 114300 | Gordon's syndrome | 114300 | C0220666 | OMIM | 1 | | 755 | 26270 | 613629 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PIEZO2 CL E G H | 63895 | 248700 | Marden-Walker syndrome | 248700 | C0796033 | OMIM | 1 | | 755 | 26270 | 613629 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 421 | 8957 | 311770 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PIGN CL E G H | 23556 | 2059 | | | | ORPHA | 1 | | 857 | 8967 | 606097 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PIGN CL E G H | 23556 | 614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 614080 | C3279775 | OMIM | 1 | | 857 | 8967 | 606097 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PIK3CA CL E G H | 5290 | 615108 | Cowden syndrome 5 | 615108 | C3554518 | OMIM | 1 | | 975 | 8975 | 171834 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PIK3R1 CL E G H | 5295 | 269880 | SHORT syndrome | 269880 | C0878684 | OMIM | 1 | | 368 | 8979 | 171833 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PKHD1 CL E G H | 5314 | 731 | | | | ORPHA | 1 | | 3397 | 9016 | 606702 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 598 | 9039 | 603604 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 338 | 9043 | 603873 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PLAA CL E G H | 9373 | 617527 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES | 617527 | C4479631 | OMIM | 1 | | 338 | 9043 | 603873 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PLAGL1 CL E G H | 5325 | 96191 | | | | ORPHA | 1 | | 32 | 9046 | 603044 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PLK4 CL E G H | 10733 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 407 | 11397 | 605031 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PLK4 CL E G H | 10733 | 616171 | Microcephaly and chorioretinopathy, autosomal recessive, 2 | 616171 | C4015388 | OMIM | 1 | | 407 | 11397 | 605031 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 3858 | 9175 | 174761 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | POLR1A CL E G H | 25885 | 616462 | Acrofacial dysostosis, Cincinnati type | 616462 | C4225317 | OMIM | 1 | | 415 | 17264 | 616404 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | POLR1C CL E G H | 9533 | 861 | | | | ORPHA | 1 | | 1267 | 20194 | 610060 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | POLR1C CL E G H | 9533 | 248390 | Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive | 248390 | C1855433 | OMIM | 1 | | 1267 | 20194 | 610060 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | POLR1D CL E G H | 51082 | 861 | | | | ORPHA | 1 | | 94 | 20422 | 613715 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | POLR1D CL E G H | 51082 | 613717 | Treacher Collins syndrome 2 | 613717 | C3150983 | OMIM | 1 | | 94 | 20422 | 613715 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | POLR3A CL E G H | 11128 | 264090 | Neonatal pseudo-hydrocephalic progeroid syndrome | 264090 | C0406586 | OMIM | 1 | | 785 | 30074 | 614258 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 943 | 19139 | 606822 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PQBP1 CL E G H | 10084 | 93946 | | | | ORPHA | 1 | | 269 | 9330 | 300463 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PQBP1 CL E G H | 10084 | 309500 | Renpenning syndrome 1 | 309500 | C0796135 | OMIM | 1 | | 269 | 9330 | 300463 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PRRX1 CL E G H | 5396 | 202650 | Dysgnathia complex | 202650 | C1876185 | OMIM | 1 | | 37 | 9142 | 167420 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PSAT1 CL E G H | 29968 | 616038 | Neu-laxova syndrome 2 | 616038 | C4015019 | OMIM | 1 | | 443 | 19129 | 610936 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PSMD12 CL E G H | 5718 | 529962 | | | | ORPHA | 1 | | 53 | 9557 | 604450 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PSMD12 CL E G H | 5718 | 617516 | Stankiewicz-Isidor syndrome | 617516 | C4479599 | OMIM | 1 | | 53 | 9557 | 604450 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PTDSS1 CL E G H | 9791 | 151050 | Lenz-Majewski hyperostosis syndrome | 151050 | C0432269 | OMIM | 1 | | 131 | 9587 | 612792 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PTEN CL E G H | 5728 | 158350 | Cowden syndrome 1 | 158350 | CN072330 | OMIM | 1 | | 2750 | 9588 | 601728 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PTH1R CL E G H | 5745 | 50945 | | | | ORPHA | 1 | | 200 | 9608 | 168468 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PTH1R CL E G H | 5745 | 215045 | Chondrodysplasia Blomstrand type | 215045 | C1859148 | OMIM | 1 | | 200 | 9608 | 168468 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PTH1R CL E G H | 5745 | 156400 | Metaphyseal chondrodysplasia, Jansen type | 156400 | C0265295 | OMIM | 1 | | 200 | 9608 | 168468 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PTPN11 CL E G H | 5781 | 648 | | | | ORPHA | 1 | | 716 | 9644 | 176876 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PTPN11 CL E G H | 5781 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 716 | 9644 | 176876 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PUS1 CL E G H | 80324 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 337 | 15508 | 608109 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PUS1 CL E G H | 80324 | 600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 600462 | C1838103 | OMIM | 1 | | 337 | 15508 | 608109 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | PYROXD1 CL E G H | 79912 | 617258 | Myopathy, myofibrillar, 8 | 617258 | C4310645 | OMIM | 1 | | 443 | 26162 | 617220 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RAB18 CL E G H | 22931 | 2510 | | | | ORPHA | 1 | | 180 | 14244 | 602207 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RAB18 CL E G H | 22931 | 614222 | Warburg micro syndrome 3 | 614222 | C3280203 | OMIM | 1 | | 180 | 14244 | 602207 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RAB23 CL E G H | 51715 | 201000 | Carpenter syndrome 1 | 201000 | C1275078 | OMIM | 1 | | 187 | 14263 | 606144 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RAB3GAP1 CL E G H | 22930 | 2510 | | | | ORPHA | 1 | | 317 | 17063 | 602536 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RAB3GAP1 CL E G H | 22930 | 1387 | Cleft palate cardiac defect ectrodactyly | | | ORPHA | 1 | | 317 | 17063 | 602536 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RAB3GAP1 CL E G H | 22930 | 600118 | Warburg micro syndrome 1 | 600118 | C1838625 | OMIM | 1 | | 317 | 17063 | 602536 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RAB3GAP2 CL E G H | 25782 | 2510 | | | | ORPHA | 1 | | 474 | 17168 | 609275 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RAB3GAP2 CL E G H | 25782 | 1387 | Cleft palate cardiac defect ectrodactyly | | | ORPHA | 1 | | 474 | 17168 | 609275 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RAB3GAP2 CL E G H | 25782 | 212720 | Martsolf syndrome | 212720 | C0796037 | OMIM | 1 | | 474 | 17168 | 609275 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RAD21 CL E G H | 5885 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 293 | 9811 | 606462 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RAF1 CL E G H | 5894 | 648 | | | | ORPHA | 1 | | 827 | 9829 | 164760 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RAI1 CL E G H | 10743 | 819 | | | | ORPHA | 1 | | 1149 | 9834 | 607642 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RAI1 CL E G H | 10743 | 1713 | | | | ORPHA | 1 | | 1149 | 9834 | 607642 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RAPSN CL E G H | 5913 | 994 | | | | ORPHA | 1 | | 433 | 9863 | 601592 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RAPSN CL E G H | 5913 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 433 | 9863 | 601592 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RARB CL E G H | 5915 | 615524 | Microphthalmia, syndromic 12 | 615524 | C3809803 | OMIM | 1 | | 97 | 9865 | 180220 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RASA2 CL E G H | 5922 | 648 | | | | ORPHA | 1 | | 371 | 9872 | 601589 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RB1 CL E G H | 5925 | 1587 | Craniosynostosis arthrogryposis cleft palate | | | ORPHA | 1 | | 2487 | 9884 | 614041 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RBBP8 CL E G H | 5932 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 237 | 9891 | 604124 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RBBP8 CL E G H | 5932 | 606744 | Seckel syndrome 2 | 606744 | C1847572 | OMIM | 1 | | 237 | 9891 | 604124 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RBM10 CL E G H | 8241 | 311900 | TARP syndrome | 311900 | C1839463 | OMIM | 1 | | 229 | 9896 | 300080 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RBM8A CL E G H | 9939 | 274000 | Radial aplasia-thrombocytopenia syndrome | 274000 | C0175703 | OMIM | 1 | | 231 | 9905 | 605313 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RECQL4 CL E G H | 9401 | 218600 | Baller-Gerold syndrome | 218600 | C0265308 | OMIM | 1 | | 3666 | 9949 | 603780 |
HP:0000347 | HP:0000347 | Micrognathia | 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:0000347 | HP:0000347 | Micrognathia | 0 | RFC2 CL E G H | 5982 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 180 | 9970 | 600404 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RFT1 CL E G H | 91869 | 612015 | Congenital disorder of glycosylation type 1N | 612015 | C2677590 | OMIM | 1 | | 399 | 30220 | 611908 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RHOBTB2 CL E G H | 23221 | 618004 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 | 618004 | CN248512 | OMIM | 1 | | 399 | 18756 | 607352 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RIPK4 CL E G H | 54101 | 1234 | Chang Davidson Carlson syndrome | | | ORPHA | 1 | | 272 | 496 | 605706 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RIT1 CL E G H | 6016 | 648 | | | | ORPHA | 1 | | 210 | 10023 | 609591 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 187 | 13429 | 300379 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 214 | 34016 | 601428 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RNU4ATAC CL E G H | 100151683 | 210710 | Osteodysplastic primordial dwarfism, type 1 | 210710 | C1859452 | OMIM | 1 | | 214 | 34016 | 601428 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ROR2 CL E G H | 4920 | 1507 | Congenital unilateral pulmonary hypoplasia | | | ORPHA | 1 | | 474 | 10257 | 602337 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ROR2 CL E G H | 4920 | 268310 | Robinow syndrome, autosomal recessive | 268310 | C1849334 | OMIM | 1 | | 474 | 10257 | 602337 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RPGRIP1 CL E G H | 57096 | 564 | | | | ORPHA | 1 | | 786 | 13436 | 605446 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RPGRIP1L CL E G H | 23322 | 564 | | | | ORPHA | 1 | | 1135 | 29168 | 610937 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RPL5 CL E G H | 6125 | 612561 | Aase syndrome | 612561 | C0265265 | OMIM | 1 | | 201 | 10360 | 603634 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RPS19 CL E G H | 6223 | 105650 | Diamond-Blackfan anemia 1 | 105650 | C2676137 | OMIM | 1 | | 172 | 10402 | 603474 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RPS28 CL E G H | 6234 | 606164 | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | 606164 | C1853576 | OMIM | 1 | | 18 | 10418 | 603685 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RRAS CL E G H | 6237 | 648 | | | | ORPHA | 1 | | 213 | 10447 | 165090 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RSPO2 CL E G H | 340419 | 3301 | Lowry syndrome | | | ORPHA | 1 | | 55 | 28583 | 610575 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RUNX2 CL E G H | 860 | 1452 | | | | ORPHA | 1 | | 373 | 10472 | 600211 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | RUNX2 CL E G H | 860 | 119600 | Cleidocranial dysostosis | 119600 | C0008928 | OMIM | 1 | | 373 | 10472 | 600211 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SATB2 CL E G H | 23314 | 251019 | | | | ORPHA | 1 | | 566 | 21637 | 608148 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SATB2 CL E G H | 23314 | 612313 | Chromosome 2q32-q33 deletion syndrome | 612313 | C2676739 | OMIM | 1 | | 566 | 21637 | 608148 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 220 | 10547 | 602286 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SEC24D CL E G H | 9871 | 2050 | Ectodermal dysplasia Margarita type | | | ORPHA | 1 | | 286 | 10706 | 607186 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SEMA3E CL E G H | 9723 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 451 | 10727 | 608166 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SERPINH1 CL E G H | 871 | 613848 | Osteogenesis imperfecta type 10 | 613848 | C3151211 | OMIM | 1 | | 162 | 1546 | 600943 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SETD5 CL E G H | 55209 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 617 | 25566 | 615743 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SETD5 CL E G H | 55209 | 615761 | Mental retardation, autosomal dominant 23 | 615761 | C3810406 | OMIM | 1 | | 617 | 25566 | 615743 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SF3B4 CL E G H | 10262 | 245 | | | | ORPHA | 1 | | 86 | 10771 | 605593 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SF3B4 CL E G H | 10262 | 154400 | Nager syndrome | 154400 | C0265245 | OMIM | 1 | | 86 | 10771 | 605593 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SH3PXD2B CL E G H | 285590 | 249420 | Frank Ter Haar syndrome | 249420 | C1855305 | OMIM | 1 | | 428 | 29242 | 613293 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SHOX CL E G H | 6473 | 314795 | | | | ORPHA | 1 | | 311 | 10853 | 312865 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SHOX CL E G H | 6473 | 249700 | Langer mesomelic dysplasia syndrome | 249700 | C0432230 | OMIM | 1 | | 311 | 10853 | 312865 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SKI CL E G H | 6497 | 2462 | | | | ORPHA | 1 | | 910 | 10896 | 164780 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SLC25A19 CL E G H | 60386 | 99742 | | | | ORPHA | 1 | | 136 | 14409 | 606521 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SLC25A19 CL E G H | 60386 | 607196 | Amish lethal microcephaly | 607196 | C1846648 | OMIM | 1 | | 136 | 14409 | 606521 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SLC25A24 CL E G H | 29957 | 612289 | Fontaine progeroid syndrome | 612289 | C2676780 | OMIM | 1 | | 83 | 20662 | 608744 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SLC26A2 CL E G H | 1836 | 93298 | | | | ORPHA | 1 | | 549 | 10994 | 606718 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SLC26A2 CL E G H | 1836 | 256050 | Atelosteogenesis type 2 | 256050 | C1850554 | OMIM | 1 | | 549 | 10994 | 606718 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SLC2A10 CL E G H | 81031 | 208050 | Arterial tortuosity syndrome | 208050 | C1859726 | OMIM | 1 | | 493 | 13444 | 606145 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SMC1A CL E G H | 8243 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 798 | 11111 | 300040 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SMC1A CL E G H | 8243 | 300590 | Congenital muscular hypertrophy-cerebral syndrome | 300590 | C1802395 | OMIM | 1 | | 798 | 11111 | 300040 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SMC3 CL E G H | 9126 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 358 | 2468 | 606062 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SNRPB CL E G H | 6628 | 1393 | | | | ORPHA | 1 | | 74 | 11153 | 182282 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SNRPB CL E G H | 6628 | 117650 | Cerebro-costo-mandibular syndrome | 117650 | C0265342 | OMIM | 1 | | 74 | 11153 | 182282 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SOS1 CL E G H | 6654 | 648 | | | | ORPHA | 1 | | 1224 | 11187 | 182530 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SOS2 CL E G H | 6655 | 648 | | | | ORPHA | 1 | | 916 | 11188 | 601247 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SOX9 CL E G H | 6662 | 718 | Anophthalmia microcephaly hypogonadism | | | ORPHA | 1 | | 280 | 11204 | 608160 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SOX9 CL E G H | 6662 | 140 | Atresia of small intestine | | | ORPHA | 1 | | 280 | 11204 | 608160 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SOX9 CL E G H | 6662 | 114290 | Camptomelic dysplasia | 114290 | C1861922 | OMIM | 1 | | 280 | 11204 | 608160 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SP7 CL E G H | 121340 | 613849 | Osteogenesis imperfecta type 12 | 613849 | C3151433 | OMIM | 1 | | 93 | 17321 | 606633 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SPECC1L CL E G H | 23384 | 145410 | Opitz G/BBB syndrome | 145410 | C1801950 | OMIM | 1 | | 230 | 29022 | 614140 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SPEG CL E G H | 10290 | 615959 | Myopathy, centronuclear, 5 | 615959 | C4014814 | OMIM | 1 | | 907 | 16901 | 615950 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SPRED1 CL E G H | 161742 | 611431 | Legius syndrome | 611431 | C1969623 | OMIM | 1 | | 603 | 20249 | 609291 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SPRTN CL E G H | 83932 | 616200 | Ruijs-Aalfs syndrome | 616200 | C4015461 | OMIM | 1 | | 55 | 25356 | 616086 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SSR4 CL E G H | 6748 | 300934 | Congenital disorder of glycosylation type 1y | 300934 | C4012395 | OMIM | 1 | | 284 | 11326 | 300090 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | STAC3 CL E G H | 246329 | 255995 | Native American myopathy | 255995 | C1850625 | OMIM | 1 | | 188 | 28423 | 615521 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | STRA6 CL E G H | 64220 | 601186 | Microphthalmia syndromic 9 | 601186 | C1832661 | OMIM | 1 | | 262 | 30650 | 610745 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SUMO1 CL E G H | 7341 | 99798 | | | | ORPHA | 1 | | 51 | 12502 | 601912 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | SUZ12 CL E G H | 23512 | 3447 | | | | ORPHA | 1 | | 103 | 17101 | 606245 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TAB2 CL E G H | 23118 | 228410 | | | | ORPHA | 1 | | 175 | 17075 | 605101 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TAPT1 CL E G H | 202018 | 616897 | Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type | 616897 | C4225162 | OMIM | 1 | | 223 | 26887 | 612758 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TBC1D20 CL E G H | 128637 | 2510 | | | | ORPHA | 1 | | 154 | 16133 | 611663 |
HP:0000347 | HP:0000347 | Micrognathia | 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:0000347 | HP:0000347 | Micrognathia | 0 | TBCE CL E G H | 6905 | 241410 | Hypoparathyroidism retardation dysmorphism syndrome | 241410 | C1855840 | OMIM | 1 | | 357 | 11582 | 604934 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TBCE CL E G H | 6905 | 2323 | Triple-Negative Breast Cancer Finding | | C2348819 | ORPHA | 1 | | 357 | 11582 | 604934 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TBL2 CL E G H | 26608 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 166 | 11586 | 605842 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TBX1 CL E G H | 6899 | 188400 | DiGeorge sequence | 188400 | C0012236 | OMIM | 1 | | 972 | 11592 | 602054 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TBX15 CL E G H | 6913 | 260660 | Cousin syndrome | 260660 | C1850040 | OMIM | 1 | | 118 | 11594 | 604127 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TBX4 CL E G H | 9496 | 147891 | Ischiopatellar dysplasia | 147891 | C1840061 | OMIM | 1 | | 238 | 11603 | 601719 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TCOF1 CL E G H | 6949 | 861 | | | | ORPHA | 1 | | 523 | 11654 | 606847 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TCTN2 CL E G H | 79867 | 564 | | | | ORPHA | 1 | | 453 | 25774 | 613846 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TCTN3 CL E G H | 26123 | 2754 | | | | ORPHA | 1 | | 327 | 24519 | 613847 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TCTN3 CL E G H | 26123 | 2753 | Hunter Macpherson syndrome | | | ORPHA | 1 | | 327 | 24519 | 613847 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TCTN3 CL E G H | 26123 | 258860 | Orofacial-digital syndrome IV | 258860 | C0406727 | OMIM | 1 | | 327 | 24519 | 613847 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TENT5A CL E G H | 55603 | 617952 | OSTEOGENESIS IMPERFECTA, TYPE XVIII | 617952 | CN244563 | OMIM | 1 | | 85 | 18345 | 611357 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TFAP2A CL E G H | 7020 | 113620 | Branchiooculofacial syndrome | 113620 | C0376524 | OMIM | 1 | | 158 | 11742 | 107580 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TGDS CL E G H | 23483 | 616145 | Catel Manzke syndrome | 616145 | C1844887 | OMIM | 1 | | 122 | 20324 | 616146 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TGDS CL E G H | 23483 | 1388 | Cleft palate colobomata radial synostosis deafness | | | ORPHA | 1 | | 122 | 20324 | 616146 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TGFA CL E G H | 7039 | 99798 | | | | ORPHA | 1 | | 18 | 11765 | 190170 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TGFBR1 CL E G H | 7046 | 60030 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TGFBR1 CL E G H | 7046 | 609192 | Loeys-Dietz syndrome 1 | 609192 | C2697933 | OMIM | 1 | | 778 | 11772 | 190181 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TGFBR2 CL E G H | 7048 | 60030 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TGFBR2 CL E G H | 7048 | 610168 | Loeys-Dietz syndrome 2 | 610168 | C2674876 | OMIM | 1 | | 842 | 11773 | 190182 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TMCO1 CL E G H | 54499 | 213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | 213980 | C1859252 | OMIM | 1 | | 65 | 18188 | 614123 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TMEM107 CL E G H | 84314 | 564 | | | | ORPHA | 1 | | 207 | 28128 | 616183 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TMEM216 CL E G H | 51259 | 564 | | | | ORPHA | 1 | | 195 | 25018 | 613277 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TMEM216 CL E G H | 51259 | 2754 | | | | ORPHA | 1 | | 195 | 25018 | 613277 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TMEM231 CL E G H | 79583 | 564 | | | | ORPHA | 1 | | 341 | 37234 | 614949 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TMEM67 CL E G H | 91147 | 564 | | | | ORPHA | 1 | | 674 | 28396 | 609884 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TNNI2 CL E G H | 7136 | 1147 | | | | ORPHA | 1 | | 113 | 11946 | 191043 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TNNI2 CL E G H | 7136 | 601680 | Distal arthrogryposis type 2B | 601680 | C1834523 | OMIM | 1 | | 113 | 11946 | 191043 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TNNT3 CL E G H | 7140 | 1147 | | | | ORPHA | 1 | | 196 | 11950 | 600692 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TNNT3 CL E G H | 7140 | 601680 | Distal arthrogryposis type 2B | 601680 | C1834523 | OMIM | 1 | | 196 | 11950 | 600692 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TOE1 CL E G H | 114034 | 614969 | Pontocerebellar hypoplasia, type 7 | 614969 | C3554226 | OMIM | 1 | | 198 | 15954 | 613931 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TP63 CL E G H | 8626 | 1071 | | | | ORPHA | 1 | | 508 | 15979 | 603273 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TPM2 CL E G H | 7169 | 1147 | | | | ORPHA | 1 | | 280 | 12011 | 190990 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TPM2 CL E G H | 7169 | 601680 | Distal arthrogryposis type 2B | 601680 | C1834523 | OMIM | 1 | | 280 | 12011 | 190990 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TRAIP CL E G H | 10293 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 47 | 30764 | 605958 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TRIO CL E G H | 7204 | 617061 | Mental retardation, autosomal dominant 44 | 617061 | C4310740 | OMIM | 1 | | 930 | 12303 | 601893 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TRIP11 CL E G H | 9321 | 93299 | | | | ORPHA | 1 | | 608 | 12305 | 604505 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TRIP13 CL E G H | 9319 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 215 | 12307 | 604507 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TRPS1 CL E G H | 7227 | 77258 | | | | ORPHA | 1 | | 400 | 12340 | 604386 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TRPS1 CL E G H | 7227 | 190350 | Trichorhinophalangeal dysplasia type I | 190350 | C0432233 | OMIM | 1 | | 400 | 12340 | 604386 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TSR2 CL E G H | 90121 | 300946 | Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | 300946 | C4225422 | OMIM | 1 | | 170 | 25455 | 300945 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TWIST1 CL E G H | 7291 | 617746 | SWEENEY-COX SYNDROME | 617746 | C4540299 | OMIM | 1 | | 176 | 12428 | 601622 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | TXNL4A CL E G H | 10907 | 608572 | Burn-McKeown syndrome | 608572 | C1837822 | OMIM | 1 | | 204 | 30551 | 611595 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | UBA1 CL E G H | 7317 | 1145 | | | | ORPHA | 1 | | 531 | 12469 | 314370 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | UBA1 CL E G H | 7317 | 301830 | Spinal muscular atrophy, X-linked 2 | 301830 | C1844934 | OMIM | 1 | | 531 | 12469 | 314370 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | UBE3B CL E G H | 89910 | 2707 | | | | ORPHA | 1 | | 110 | 13478 | 608047 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | UPF3B CL E G H | 65109 | 776 | | | | ORPHA | 1 | | 314 | 20439 | 300298 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | VAC14 CL E G H | 55697 | 3472 | Meningococcemia | | | ORPHA | 1 | | 220 | 25507 | 604632 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | VARS CL E G H | 7407 | 617802 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY | 617802 | C4540493 | OMIM | 1 | | | 12651 | 192150 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | VPS13B CL E G H | 157680 | 193 | | | | ORPHA | 1 | | 3788 | 2183 | 607817 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | VPS13B CL E G H | 157680 | 216550 | Cohen syndrome | 216550 | C0265223 | OMIM | 1 | | 3788 | 2183 | 607817 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | VPS33B CL E G H | 26276 | 208085 | Arthrogryposis renal dysfunction cholestasis syndrome | 208085 | C1859722 | OMIM | 1 | | 288 | 12712 | 608552 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | WASHC5 CL E G H | 9897 | 220210 | Dandy-Walker like malformation with atrioventricular septal defect | 220210 | C0796137 | OMIM | 1 | | 527 | 28984 | 610657 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | WDPCP CL E G H | 51057 | 564 | | | | ORPHA | 1 | | 428 | 28027 | 613580 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | WDR26 CL E G H | 80232 | 617616 | SKRABAN-DEARDORFF SYNDROME | 617616 | C4539927 | OMIM | 1 | | 125 | 21208 | 617424 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | WDR34 CL E G H | 89891 | 93271 | | | | ORPHA | 1 | | | 28296 | 613363 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | WDR35 CL E G H | 57539 | 93271 | | | | ORPHA | 1 | | 523 | 29250 | 613602 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | WDR35 CL E G H | 57539 | 613610 | Cranioectodermal dysplasia 2 | 613610 | C3150874 | OMIM | 1 | | 523 | 29250 | 613602 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | WDR60 CL E G H | 55112 | 93271 | | | | ORPHA | 1 | | | 21862 | 615462 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | WDR73 CL E G H | 84942 | 251300 | Galloway-Mowat syndrome 1 | 251300 | CN031715 | OMIM | 1 | | 138 | 25928 | 616144 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | WHCR CL E G H | 7467 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | | 12764 | 0 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | WNT10A CL E G H | 80326 | 99798 | | | | ORPHA | 1 | | 359 | 13829 | 606268 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | WNT10B CL E G H | 7480 | 99798 | | | | ORPHA | 1 | | 49 | 12775 | 601906 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | WNT3 CL E G H | 7473 | 3301 | Lowry syndrome | | | ORPHA | 1 | | 69 | 12782 | 165330 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | WNT3 CL E G H | 7473 | 273395 | Tetraamelia, autosomal recessive | 273395 | C4012268 | OMIM | 1 | | 69 | 12782 | 165330 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | WNT5A CL E G H | 7474 | 3107 | | | | ORPHA | 1 | | 136 | 12784 | 164975 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | WNT5A CL E G H | 7474 | 180700 | Robinow syndrome | 180700 | C0265205 | OMIM | 1 | | 136 | 12784 | 164975 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | WNT7A CL E G H | 7476 | 2879 | | | | ORPHA | 1 | | 83 | 12786 | 601570 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | WT1 CL E G H | 7490 | 893 | | | | ORPHA | 1 | | 1146 | 12796 | 607102 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | XRCC4 CL E G H | 7518 | 99812 | | | | ORPHA | 1 | | 86 | 12831 | 194363 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | XRCC4 CL E G H | 7518 | 436182 | | | | ORPHA | 1 | | 86 | 12831 | 194363 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | YARS2 CL E G H | 51067 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 156 | 24249 | 610957 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ZBTB18 CL E G H | 10472 | 36367 | | | | ORPHA | 1 | | 202 | 13030 | 608433 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ZBTB18 CL E G H | 10472 | 612337 | Mental retardation, autosomal dominant 22 | 612337 | C2676727 | OMIM | 1 | | 202 | 13030 | 608433 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ZBTB24 CL E G H | 9841 | 2268 | | | | ORPHA | 1 | | 246 | 21143 | 614064 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ZDHHC9 CL E G H | 51114 | 776 | | | | ORPHA | 1 | | 331 | 18475 | 300646 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ZMPSTE24 CL E G H | 10269 | 1662 | | | | ORPHA | 1 | | 176 | 12877 | 606480 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ZMPSTE24 CL E G H | 10269 | 90154 | | | | ORPHA | 1 | | 176 | 12877 | 606480 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ZMPSTE24 CL E G H | 10269 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 176 | 12877 | 606480 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ZMPSTE24 CL E G H | 10269 | 275210 | Lethal tight skin contracture syndrome | 275210 | C0406585 | OMIM | 1 | | 176 | 12877 | 606480 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ZMPSTE24 CL E G H | 10269 | 608612 | Mandibuloacral dysplasia with type B lipodystrophy | 608612 | C1837756 | OMIM | 1 | | 176 | 12877 | 606480 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ZNF335 CL E G H | 63925 | 615095 | Primary autosomal recessive microcephaly 10 | 615095 | C3554499 | OMIM | 1 | | 311 | 15807 | 610827 |
HP:0000347 | HP:0000347 | Micrognathia | 0 | ZNF341 CL E G H | 84905 | 618282 | 618282 | 618282 | | OMIM | 1 | | 313 | 15992 | 0 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | A2ML1 CL E G H | 144568 | 648 | | | | ORPHA | 1 | | 1146 | 23336 | 610627 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | A2ML1 CL E G H | 144568 | 648 | | | | ORPHA | 1 | | 1146 | 23336 | 610627 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | A2ML1 CL E G H | 144568 | 648 | | | | ORPHA | 1 | | 1146 | 23336 | 610627 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ABCC9 CL E G H | 10060 | 965 | Brachydactyly dwarfism mental retardation | | | ORPHA | 1 | | 1266 | 60 | 601439 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ABCC9 CL E G H | 10060 | 965 | Brachydactyly dwarfism mental retardation | | | ORPHA | 1 | | 1266 | 60 | 601439 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ABCC9 CL E G H | 10060 | 965 | Brachydactyly dwarfism mental retardation | | | ORPHA | 1 | | 1266 | 60 | 601439 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 412 | 144 | 102560 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 412 | 144 | 102560 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 412 | 144 | 102560 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ADAMTS2 CL E G H | 9509 | 1901 | | | | ORPHA | 1 | | 1221 | 218 | 604539 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ADAMTS2 CL E G H | 9509 | 1901 | | | | ORPHA | 1 | | 1221 | 218 | 604539 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ADAMTS2 CL E G H | 9509 | 1901 | | | | ORPHA | 1 | | 1221 | 218 | 604539 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ADAMTS2 CL E G H | 9509 | 225410 | Ehlers-Danlos syndrome, type vii, autosomal recessive | 225410 | C2700425 | OMIM | 1 | | 1221 | 218 | 604539 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ADAMTS2 CL E G H | 9509 | 225410 | Ehlers-Danlos syndrome, type vii, autosomal recessive | 225410 | C2700425 | OMIM | 1 | | 1221 | 218 | 604539 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ADAMTS2 CL E G H | 9509 | 225410 | Ehlers-Danlos syndrome, type vii, autosomal recessive | 225410 | C2700425 | OMIM | 1 | | 1221 | 218 | 604539 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ADGRG6 CL E G H | 57211 | 616503 | Lethal congenital contracture syndrome 9 | 616503 | C4225303 | OMIM | 1 | | 96 | 13841 | 612243 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ADGRG6 CL E G H | 57211 | 616503 | Lethal congenital contracture syndrome 9 | 616503 | C4225303 | OMIM | 1 | | 96 | 13841 | 612243 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ADGRG6 CL E G H | 57211 | 616503 | Lethal congenital contracture syndrome 9 | 616503 | C4225303 | OMIM | 1 | | 96 | 13841 | 612243 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | AEBP1 CL E G H | 165 | 618000 | EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 | 618000 | CN248508 | OMIM | 1 | | 230 | 303 | 602981 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | AEBP1 CL E G H | 165 | 618000 | EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 | 618000 | CN248508 | OMIM | 1 | | 230 | 303 | 602981 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | AEBP1 CL E G H | 165 | 618000 | EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 | 618000 | CN248508 | OMIM | 1 | | 230 | 303 | 602981 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | AHDC1 CL E G H | 27245 | 615829 | Xia-Gibbs syndrome | 615829 | C4014419 | OMIM | 1 | | 455 | 25230 | 615790 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | AHDC1 CL E G H | 27245 | 615829 | Xia-Gibbs syndrome | 615829 | C4014419 | OMIM | 1 | | 455 | 25230 | 615790 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | AHDC1 CL E G H | 27245 | 615829 | Xia-Gibbs syndrome | 615829 | C4014419 | OMIM | 1 | | 455 | 25230 | 615790 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | AKT1 CL E G H | 207 | 615109 | Cowden syndrome 6 | 615109 | C3554519 | OMIM | 1 | | 634 | 391 | 164730 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | AKT1 CL E G H | 207 | 615109 | Cowden syndrome 6 | 615109 | C3554519 | OMIM | 1 | | 634 | 391 | 164730 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | AKT1 CL E G H | 207 | 615109 | Cowden syndrome 6 | 615109 | C3554519 | OMIM | 1 | | 634 | 391 | 164730 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ALG1 CL E G H | 56052 | 608540 | Congenital disorder of glycosylation type 1K | 608540 | C2931005 | OMIM | 1 | | 495 | 18294 | 605907 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ALG1 CL E G H | 56052 | 608540 | Congenital disorder of glycosylation type 1K | 608540 | C2931005 | OMIM | 1 | | 495 | 18294 | 605907 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ALG1 CL E G H | 56052 | 608540 | Congenital disorder of glycosylation type 1K | 608540 | C2931005 | OMIM | 1 | | 495 | 18294 | 605907 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ALX4 CL E G H | 60529 | 52022 | | | | ORPHA | 1 | | 251 | 450 | 605420 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ALX4 CL E G H | 60529 | 52022 | | | | ORPHA | 1 | | 251 | 450 | 605420 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ALX4 CL E G H | 60529 | 52022 | | | | ORPHA | 1 | | 251 | 450 | 605420 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 293 | 26837 | 300647 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 293 | 26837 | 300647 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 293 | 26837 | 300647 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | AMMECR1 CL E G H | 9949 | 300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | 300990 | C4310810 | OMIM | 1 | | 197 | 467 | 300195 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | AMMECR1 CL E G H | 9949 | 300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | 300990 | C4310810 | OMIM | 1 | | 197 | 467 | 300195 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | AMMECR1 CL E G H | 9949 | 300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | 300990 | C4310810 | OMIM | 1 | | 197 | 467 | 300195 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ANK1 CL E G H | 286 | 251066 | | | | ORPHA | 1 | | 642 | 492 | 612641 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ANK1 CL E G H | 286 | 251066 | | | | ORPHA | 1 | | 642 | 492 | 612641 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ANK1 CL E G H | 286 | 251066 | | | | ORPHA | 1 | | 642 | 492 | 612641 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ANKLE2 CL E G H | 23141 | 616681 | Microcephaly 16, primary, autosomal recessive | 616681 | C4225249 | OMIM | 1 | | 191 | 29101 | 616062 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ANKLE2 CL E G H | 23141 | 616681 | Microcephaly 16, primary, autosomal recessive | 616681 | C4225249 | OMIM | 1 | | 191 | 29101 | 616062 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ANKLE2 CL E G H | 23141 | 616681 | Microcephaly 16, primary, autosomal recessive | 616681 | C4225249 | OMIM | 1 | | 191 | 29101 | 616062 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ANKRD11 CL E G H | 29123 | 261250 | 16q24.3 microdeletion syndrome | | CN202174 | ORPHA | 1 | | 1515 | 21316 | 611192 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ANKRD11 CL E G H | 29123 | 261250 | 16q24.3 microdeletion syndrome | | CN202174 | ORPHA | 1 | | 1515 | 21316 | 611192 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ANKRD11 CL E G H | 29123 | 261250 | 16q24.3 microdeletion syndrome | | CN202174 | ORPHA | 1 | | 1515 | 21316 | 611192 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ANTXR1 CL E G H | 84168 | 2067 | | | | ORPHA | 1 | | 90 | 21014 | 606410 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ANTXR1 CL E G H | 84168 | 2067 | | | | ORPHA | 1 | | 90 | 21014 | 606410 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ANTXR1 CL E G H | 84168 | 2067 | | | | ORPHA | 1 | | 90 | 21014 | 606410 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ANTXR1 CL E G H | 84168 | 230740 | Odontotrichomelic syndrome | 230740 | C0406723 | OMIM | 1 | | 90 | 21014 | 606410 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ANTXR1 CL E G H | 84168 | 230740 | Odontotrichomelic syndrome | 230740 | C0406723 | OMIM | 1 | | 90 | 21014 | 606410 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ANTXR1 CL E G H | 84168 | 230740 | Odontotrichomelic syndrome | 230740 | C0406723 | OMIM | 1 | | 90 | 21014 | 606410 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 123 | 649 | 600820 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 123 | 649 | 600820 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 123 | 649 | 600820 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ARX CL E G H | 170302 | 300215 | Lissencephaly 2, X-linked | 300215 | C1846171 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ARX CL E G H | 170302 | 300215 | Lissencephaly 2, X-linked | 300215 | C1846171 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ARX CL E G H | 170302 | 300215 | Lissencephaly 2, X-linked | 300215 | C1846171 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 432 | 753 | 108370 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 432 | 753 | 108370 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 432 | 753 | 108370 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 292 | 25567 | 612316 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 292 | 25567 | 612316 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 292 | 25567 | 612316 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ATP7A CL E G H | 538 | 565 | | | | ORPHA | 1 | | 1283 | 869 | 300011 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ATP7A CL E G H | 538 | 565 | | | | ORPHA | 1 | | 1283 | 869 | 300011 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ATP7A CL E G H | 538 | 565 | | | | ORPHA | 1 | | 1283 | 869 | 300011 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ATR CL E G H | 545 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 2273 | 882 | 601215 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ATR CL E G H | 545 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 2273 | 882 | 601215 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ATR CL E G H | 545 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 2273 | 882 | 601215 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ATR CL E G H | 545 | 210600 | Seckel syndrome 1 | 210600 | CN033164 | OMIM | 1 | | 2273 | 882 | 601215 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ATR CL E G H | 545 | 210600 | Seckel syndrome 1 | 210600 | CN033164 | OMIM | 1 | | 2273 | 882 | 601215 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ATR CL E G H | 545 | 210600 | Seckel syndrome 1 | 210600 | CN033164 | OMIM | 1 | | 2273 | 882 | 601215 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ATRIP CL E G H | 84126 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 374 | 33499 | 606605 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ATRIP CL E G H | 84126 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 374 | 33499 | 606605 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ATRIP CL E G H | 84126 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 374 | 33499 | 606605 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | ATRX CL E G H | 546 | 309580 | Mental retardation-hypotonic facies syndrome X-linked, 1 | 309580 | C0796003 | OMIM | 1 | | 1544 | 886 | 300032 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | ATRX CL E G H | 546 | 309580 | Mental retardation-hypotonic facies syndrome X-linked, 1 | 309580 | C0796003 | OMIM | 1 | | 1544 | 886 | 300032 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | ATRX CL E G H | 546 | 309580 | Mental retardation-hypotonic facies syndrome X-linked, 1 | 309580 | C0796003 | OMIM | 1 | | 1544 | 886 | 300032 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | AXIN2 CL E G H | 8313 | 99798 | | | | ORPHA | 1 | | 2777 | 904 | 604025 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | AXIN2 CL E G H | 8313 | 99798 | | | | ORPHA | 1 | | 2777 | 904 | 604025 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | AXIN2 CL E G H | 8313 | 99798 | | | | ORPHA | 1 | | 2777 | 904 | 604025 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 366 | 17978 | 615291 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 366 | 17978 | 615291 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 366 | 17978 | 615291 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | B3GLCT CL E G H | 145173 | 709 | | | | ORPHA | 1 | | 266 | 20207 | 610308 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | B3GLCT CL E G H | 145173 | 709 | | | | ORPHA | 1 | | 266 | 20207 | 610308 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | B3GLCT CL E G H | 145173 | 709 | | | | ORPHA | 1 | | 266 | 20207 | 610308 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 266 | 20207 | 610308 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 266 | 20207 | 610308 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 266 | 20207 | 610308 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 1 | | 253 | 24123 | 614144 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 1 | | 253 | 24123 | 614144 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 1 | | 253 | 24123 | 614144 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 1 | | 56 | 28636 | 611951 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 1 | | 56 | 28636 | 611951 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 1 | | 56 | 28636 | 611951 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | BANF1 CL E G H | 8815 | 614008 | Nestor-Guillermo progeria syndrome | 614008 | C3151446 | OMIM | 1 | | 47 | 17397 | 603811 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | BANF1 CL E G H | 8815 | 614008 | Nestor-Guillermo progeria syndrome | 614008 | C3151446 | OMIM | 1 | | 47 | 17397 | 603811 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | BANF1 CL E G H | 8815 | 614008 | Nestor-Guillermo progeria syndrome | 614008 | C3151446 | OMIM | 1 | | 47 | 17397 | 603811 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 196 | 961 | 605681 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 196 | 961 | 605681 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 196 | 961 | 605681 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | BCL11B CL E G H | 64919 | 617237 | Immunodeficiency 49 | 617237 | C4310656 | OMIM | 1 | | 330 | 13222 | 606558 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | BCL11B CL E G H | 64919 | 617237 | Immunodeficiency 49 | 617237 | C4310656 | OMIM | 1 | | 330 | 13222 | 606558 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | BCL11B CL E G H | 64919 | 617237 | Immunodeficiency 49 | 617237 | C4310656 | OMIM | 1 | | 330 | 13222 | 606558 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | BDNF CL E G H | 627 | 893 | | | | ORPHA | 1 | | 57 | 1033 | 113505 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | BDNF CL E G H | 627 | 893 | | | | ORPHA | 1 | | 57 | 1033 | 113505 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | BDNF CL E G H | 627 | 893 | | | | ORPHA | 1 | | 57 | 1033 | 113505 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | BICD2 CL E G H | 23299 | 618291 | 618291 | 618291 | | OMIM | 1 | | 590 | 17208 | 609797 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | BICD2 CL E G H | 23299 | 618291 | 618291 | 618291 | | OMIM | 1 | | 590 | 17208 | 609797 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | BICD2 CL E G H | 23299 | 618291 | 618291 | 618291 | | OMIM | 1 | | 590 | 17208 | 609797 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | BMPER CL E G H | 168667 | 608022 | Diaphanospondylodysostosis | 608022 | C1842691 | OMIM | 1 | | 244 | 24154 | 608699 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | BMPER CL E G H | 168667 | 608022 | Diaphanospondylodysostosis | 608022 | C1842691 | OMIM | 1 | | 244 | 24154 | 608699 |
HP:0000347 | HP:0000308 | Microretrognathia | 1 | BMPER CL E G H | 168667 | 608022 | Diaphanospondylodysostosis | 608022 | C1842691 | OMIM | 1 | | 244 | 24154 | 608699 |
HP:0000347 | HP:0003778 | Short mandibular rami | 1 | BPTF CL E G H | 2186 | 529962 | | | | ORPHA | 1 | | 191 | 3581 | 601819 |
HP:0000347 | HP:0410219 | Hypoplasia of mandible relative to maxilla | 1 | BPTF CL E G H | 2186 | |