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:0000278 | HP:0000278 | Retrognathia | 0 | ABAT CL E G H | 18 | 613163 | Gamma-aminobutyric acid transaminase deficiency | 613163 | C0342708 | OMIM | 1 | | 605 | 23 | 137150 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 412 | 144 | 102560 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ADAMTS2 CL E G H | 9509 | 1901 | | | | ORPHA | 1 | | 1221 | 218 | 604539 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 596 | 568 | 607246 |
HP:0000278 | HP:0000278 | Retrognathia | 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:0000278 | HP:0000278 | Retrognathia | 0 | ARID2 CL E G H | 196528 | 617808 | COFFIN-SIRIS SYNDROME 6 | 617808 | C4540499 | OMIM | 1 | | 227 | 18037 | 609539 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ARNT2 CL E G H | 9915 | 615926 | Webb-Dattani syndrome | 615926 | C4014708 | OMIM | 1 | | 111 | 16876 | 606036 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ASPH CL E G H | 444 | 601552 | Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | 601552 | C1832167 | OMIM | 1 | | 131 | 757 | 600582 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ASXL1 CL E G H | 171023 | 97297 | | | | ORPHA | 1 | | 503 | 18318 | 612990 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ASXL2 CL E G H | 55252 | 617190 | Shashi-Pena syndrome | 617190 | C4310672 | OMIM | 1 | | 232 | 23805 | 612991 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ATP6V1A CL E G H | 523 | 617403 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | 617403 | C4479409 | OMIM | 1 | | 123 | 851 | 607027 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ATPAF2 CL E G H | 91647 | 604273 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 | 604273 | C2700431 | OMIM | 1 | | 228 | 18802 | 608918 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | BCL11A CL E G H | 53335 | 617101 | Intellectual developmental disorder with persistence of fetal hemoglobin | 617101 | C4310833 | OMIM | 1 | | 154 | 13221 | 606557 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | BIN1 CL E G H | 274 | 169186 | | | | ORPHA | 1 | | 552 | 1052 | 601248 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 458 | 29426 | 612753 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CCDC88A CL E G H | 55704 | 617507 | PEHO-like syndrome | 617507 | C1850056 | OMIM | 1 | | 528 | 25523 | 609736 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CDC45 CL E G H | 8318 | 2554 | | | | ORPHA | 1 | | 567 | 1739 | 603465 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CDC6 CL E G H | 990 | 2554 | | | | ORPHA | 1 | | 104 | 1744 | 602627 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CDT1 CL E G H | 81620 | 2554 | | | | ORPHA | 1 | | 326 | 24576 | 605525 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CENPJ CL E G H | 55835 | 613676 | Seckel syndrome 4 | 613676 | C3888212 | OMIM | 1 | | 438 | 17272 | 609279 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CEP135 CL E G H | 9662 | 614673 | Primary autosomal recessive microcephaly 8 | 614673 | C3553414 | OMIM | 1 | | 277 | 29086 | 611423 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CEP152 CL E G H | 22995 | 613823 | Seckel syndrome 5 | 613823 | C3151187 | OMIM | 1 | | 450 | 29298 | 613529 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 296 | 18622 | 606978 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | COL13A1 CL E G H | 1305 | 616720 | Myasthenic syndrome, congenital, 19 | 616720 | C4225235 | OMIM | 1 | | 397 | 2190 | 120350 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | COL1A1 CL E G H | 1277 | 1899 | | | | ORPHA | 1 | | 2016 | 2197 | 120150 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | COL1A2 CL E G H | 1278 | 1899 | | | | ORPHA | 1 | | 1458 | 2198 | 120160 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | COX7B CL E G H | 1349 | 2556 | | | | ORPHA | 1 | | 173 | 2291 | 300885 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CRLF1 CL E G H | 9244 | 272430 | Cold-induced sweating syndrome 1 | 272430 | C1848947 | OMIM | 1 | | 80 | 2364 | 604237 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CTBP1 CL E G H | 1487 | 617915 | HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | 617915 | CN895589 | OMIM | 1 | | 217 | 2494 | 602618 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CTU2 CL E G H | 348180 | 618142 | MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME | 618142 | | OMIM | 1 | | 173 | 28005 | 617057 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DGCR2 CL E G H | 9993 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 409 | 2845 | 600594 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DGCR6 CL E G H | 8214 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 336 | 2846 | 601279 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DGCR8 CL E G H | 54487 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 398 | 2847 | 609030 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 1 | | 216 | 2859 | 606418 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DIS3L2 CL E G H | 129563 | 2849 | | | | ORPHA | 1 | | 1714 | 28648 | 614184 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DSTYK CL E G H | 25778 | 270750 | Spastic paraplegia 23 | 270750 | C0796019 | OMIM | 1 | | 102 | 29043 | 612666 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DVL1 CL E G H | 1855 | 3107 | | | | ORPHA | 1 | | 492 | 3084 | 601365 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DVL3 CL E G H | 1857 | 3107 | | | | ORPHA | 1 | | 189 | 3087 | 601368 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EDN1 CL E G H | 1906 | 615706 | Auriculocondylar syndrome 3 | 615706 | C3810332 | OMIM | 1 | | 52 | 3176 | 131240 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EED CL E G H | 8726 | 3447 | | | | ORPHA | 1 | | 97 | 3188 | 605984 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EED CL E G H | 8726 | 617561 | Cohen-Gibson syndrome | 617561 | C4479654 | OMIM | 1 | | 97 | 3188 | 605984 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EP300 CL E G H | 2033 | 613684 | Rubinstein-Taybi syndrome 2 | 613684 | C3150941 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 1196 | 3434 | 126340 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ERF CL E G H | 2077 | 600775 | Lambdoidal craniosynostosis | 600775 | C1833340 | OMIM | 1 | | 131 | 3444 | 611888 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ESS2 CL E G H | 8220 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 398 | 16817 | 601755 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EYA1 CL E G H | 2138 | 602588 | Branchiootic syndrome | 602588 | C1865143 | OMIM | 1 | | 434 | 3519 | 601653 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EZH2 CL E G H | 2146 | 3447 | | | | ORPHA | 1 | | 416 | 3527 | 601573 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EZH2 CL E G H | 2146 | 277590 | Weaver syndrome | 277590 | C0265210 | OMIM | 1 | | 416 | 3527 | 601573 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FAM20C CL E G H | 56975 | 1832 | Diabetes hypogonadism deafness mental retardation | | | ORPHA | 1 | | 350 | 22140 | 611061 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FBN1 CL E G H | 2200 | 2462 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FBN1 CL E G H | 2200 | 616914 | Marfan lipodystrophy syndrome | 616914 | C4310796 | OMIM | 1 | | 5970 | 3603 | 134797 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FBN1 CL E G H | 2200 | 154700 | Marfan syndrome | 154700 | C0024796 | OMIM | 1 | | 5970 | 3603 | 134797 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FHL1 CL E G H | 2273 | 300280 | Uruguay faciocardiomusculoskeletal syndrome | 300280 | C1846010 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FOXE1 CL E G H | 2304 | 1226 | Cervical hypertrichosis peripheral neuropathy | | | ORPHA | 1 | | 71 | 3806 | 602617 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FOXP1 CL E G H | 27086 | 613670 | Mental retardation with language impairment and with or without autistic features | 613670 | C3150923 | OMIM | 1 | | 449 | 3823 | 605515 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FRMPD4 CL E G H | 9758 | 300983 | Mental retardation, X-linked 104 | 300983 | C4310817 | OMIM | 1 | | 352 | 29007 | 300838 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 199 | 24678 | 610966 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FUT8 CL E G H | 2530 | 618005 | CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION | 618005 | CN248517 | OMIM | 1 | | 79 | 4019 | 602589 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FZD2 CL E G H | 2535 | 3107 | | | | ORPHA | 1 | | 80 | 4040 | 600667 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | GBA CL E G H | 2629 | 608013 | Gaucher disease, perinatal lethal | 608013 | C1842704 | OMIM | 1 | | | 4177 | 606463 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | GMNN CL E G H | 51053 | 2554 | | | | ORPHA | 1 | | 54 | 17493 | 602842 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | HBA1 CL E G H | 3039 | 98791 | | | | ORPHA | 1 | | 379 | 4823 | 141800 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | HBA2 CL E G H | 3040 | 98791 | | | | ORPHA | 1 | | 333 | 4824 | 141850 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | HCCS CL E G H | 3052 | 2556 | | | | ORPHA | 1 | | 218 | 4837 | 300056 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | HDAC8 CL E G H | 55869 | 300882 | Cornelia de Lange syndrome 5 | 300882 | C3550903 | OMIM | 1 | | 322 | 13315 | 300269 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 786 | 5213 | 601860 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | HYLS1 CL E G H | 219844 | 2189 | | | | ORPHA | 1 | | 229 | 26558 | 610693 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | HYMAI CL E G H | 57061 | 96191 | | | | ORPHA | 1 | | 17 | 5326 | 606546 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | IGBP1 CL E G H | 3476 | 52055 | | | | ORPHA | 1 | | 151 | 5461 | 300139 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | IGBP1 CL E G H | 3476 | 300472 | Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia | 300472 | C1845446 | OMIM | 1 | | 151 | 5461 | 300139 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 713 | 5465 | 147370 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | IGF2 CL E G H | 3481 | 616489 | Growth restriction, severe, with distinctive facies | 616489 | C4225307 | OMIM | 1 | | 98 | 5466 | 147470 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ISPD CL E G H | 729920 | 614643 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | 614643 | C3553330 | OMIM | 1 | | 647 | 37276 | 614631 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ITGA8 CL E G H | 8516 | 191830 | Renal adysplasia | 191830 | C1619700 | OMIM | 1 | | 158 | 6144 | 604063 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | KAT6B CL E G H | 23522 | 3047 | | | | ORPHA | 1 | | 605 | 17582 | 605880 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | KIF7 CL E G H | 374654 | 2189 | | | | ORPHA | 1 | | 977 | 30497 | 611254 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | KLHL7 CL E G H | 55975 | 97297 | | | | ORPHA | 1 | | 258 | 15646 | 611119 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | KPTN CL E G H | 11133 | 615637 | Mental retardation, autosomal recessive 41 | 615637 | C3810225 | OMIM | 1 | | 117 | 6404 | 615620 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | LAS1L CL E G H | 81887 | 309585 | Wilson-Turner X-linked mental retardation syndrome | 309585 | C1839736 | OMIM | 1 | | 243 | 25726 | 300964 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | LGI4 CL E G H | 163175 | 617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | 617468 | C4479539 | OMIM | 1 | | 79 | 18712 | 608303 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | LMNA CL E G H | 4000 | 212112 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 212112 | C0796031 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0000278 | HP:0000278 | Retrognathia | 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:0000278 | HP:0000278 | Retrognathia | 0 | MAGEL2 CL E G H | 54551 | 615547 | Schaaf-yang syndrome | 615547 | C3809877 | OMIM | 1 | | 620 | 6814 | 605283 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MBD5 CL E G H | 55777 | 156200 | Mental retardation, autosomal dominant 1 | 156200 | C1969562 | OMIM | 1 | | 1149 | 20444 | 611472 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MGAT2 CL E G H | 4247 | 212066 | Carbohydrate-deficient glycoprotein syndrome type II | 212066 | C2931008 | OMIM | 1 | | 123 | 7045 | 602616 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MOGS CL E G H | 7841 | 606056 | Congenital disorder of glycosylation type 2B | 606056 | C1853736 | OMIM | 1 | | 346 | 24862 | 601336 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MRPS22 CL E G H | 56945 | 611719 | Combined oxidative phosphorylation deficiency 5 | 611719 | C2673642 | OMIM | 1 | | 144 | 14508 | 605810 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MYMK CL E G H | 389827 | 254940 | Congenital nonprogressive myopathy with Moebius and Robin sequences | 254940 | C1850746 | OMIM | 1 | | 75 | 33778 | 615345 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 1 | | 3074 | 7652 | 602667 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NDUFB11 CL E G H | 54539 | 2556 | | | | ORPHA | 1 | | 180 | 20372 | 300403 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NFIX CL E G H | 4784 | 561 | | | | ORPHA | 1 | | 261 | 7788 | 164005 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NFIX CL E G H | 4784 | 602535 | Marshall-Smith syndrome | 602535 | C0265211 | OMIM | 1 | | 261 | 7788 | 164005 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NSD1 CL E G H | 64324 | 3447 | | | | ORPHA | 1 | | 1390 | 14234 | 606681 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NSDHL CL E G H | 50814 | 300831 | NSDHL-Related Disorders | 300831 | C3151781 | OMIM | 1 | | 312 | 13398 | 300275 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ORC1 CL E G H | 4998 | 2554 | | | | ORPHA | 1 | | 214 | 8487 | 601902 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ORC4 CL E G H | 5000 | 2554 | | | | ORPHA | 1 | | 166 | 8490 | 603056 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ORC6 CL E G H | 23594 | 2554 | | | | ORPHA | 1 | | 131 | 17151 | 607213 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | OTUD6B CL E G H | 51633 | 505237 | | | | ORPHA | 1 | | 70 | 24281 | 612021 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | OTUD6B CL E G H | 51633 | 617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 617452 | C4479520 | OMIM | 1 | | 70 | 24281 | 612021 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PCNT CL E G H | 5116 | 2637 | Hemimegalencephaly | | | ORPHA | 1 | | 1505 | 16068 | 605925 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PCNT CL E G H | 5116 | 210720 | Microcephalic osteodysplastic primordial dwarfism type 2 | 210720 | C0432246 | OMIM | 1 | | 1505 | 16068 | 605925 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PIEZO2 CL E G H | 63895 | 2461 | | | | ORPHA | 1 | | 755 | 26270 | 613629 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PLAGL1 CL E G H | 5325 | 96191 | | | | ORPHA | 1 | | 32 | 9046 | 603044 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | POLR1A CL E G H | 25885 | 616462 | Acrofacial dysostosis, Cincinnati type | 616462 | C4225317 | OMIM | 1 | | 415 | 17264 | 616404 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | POLR1C CL E G H | 9533 | 861 | | | | ORPHA | 1 | | 1267 | 20194 | 610060 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | POLR1D CL E G H | 51082 | 861 | | | | ORPHA | 1 | | 94 | 20422 | 613715 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PREPL CL E G H | 9581 | 163690 | | | | ORPHA | 1 | | 549 | 30228 | 609557 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PRMT7 CL E G H | 54496 | 617157 | Short stature, brachydactyly, intellectual developmental disability, and seizures | 617157 | C4310689 | OMIM | 1 | | 131 | 25557 | 610087 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PSMD12 CL E G H | 5718 | 617516 | Stankiewicz-Isidor syndrome | 617516 | C4479599 | OMIM | 1 | | 53 | 9557 | 604450 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | RARB CL E G H | 5915 | 615524 | Microphthalmia, syndromic 12 | 615524 | C3809803 | OMIM | 1 | | 97 | 9865 | 180220 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | RBBP8 CL E G H | 5932 | 251255 | Microcephaly with mental retardation and digital anomalies | 251255 | C0796063 | OMIM | 1 | | 237 | 9891 | 604124 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 214 | 34016 | 601428 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | RPL5 CL E G H | 6125 | 612561 | Aase syndrome | 612561 | C0265265 | OMIM | 1 | | 201 | 10360 | 603634 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | RPS19 CL E G H | 6223 | 105650 | Diamond-Blackfan anemia 1 | 105650 | C2676137 | OMIM | 1 | | 172 | 10402 | 603474 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | RSPO2 CL E G H | 340419 | 618022 | HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY | 618022 | CN248526 | OMIM | 1 | | 55 | 28583 | 610575 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | RYR1 CL E G H | 6261 | 169186 | | | | ORPHA | 1 | | 5062 | 10483 | 180901 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SF3B4 CL E G H | 10262 | 154400 | Nager syndrome | 154400 | C0265245 | OMIM | 1 | | 86 | 10771 | 605593 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SKI CL E G H | 6497 | 2462 | | | | ORPHA | 1 | | 910 | 10896 | 164780 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SLC25A24 CL E G H | 29957 | 612289 | Fontaine progeroid syndrome | 612289 | C2676780 | OMIM | 1 | | 83 | 20662 | 608744 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SLC3A1 CL E G H | 6519 | 163690 | | | | ORPHA | 1 | | 335 | 11025 | 104614 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 168 | 11056 | 601019 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SMOC1 CL E G H | 64093 | 206920 | Anophthalmos with limb anomalies | 206920 | C0599973 | OMIM | 1 | | 86 | 20318 | 608488 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SPEG CL E G H | 10290 | 169186 | | | | ORPHA | 1 | | 907 | 16901 | 615950 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SPEG CL E G H | 10290 | 615959 | Myopathy, centronuclear, 5 | 615959 | C4014814 | OMIM | 1 | | 907 | 16901 | 615950 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SUZ12 CL E G H | 23512 | 3447 | | | | ORPHA | 1 | | 103 | 17101 | 606245 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TBX1 CL E G H | 6899 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 972 | 11592 | 602054 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TCOF1 CL E G H | 6949 | 861 | | | | ORPHA | 1 | | 523 | 11654 | 606847 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TCTN3 CL E G H | 26123 | 2753 | Hunter Macpherson syndrome | | | ORPHA | 1 | | 327 | 24519 | 613847 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TGFB2 CL E G H | 7042 | 614816 | Loeys-Dietz syndrome 4 | 614816 | C3553762 | OMIM | 1 | | 540 | 11768 | 190220 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TGFB3 CL E G H | 7043 | 615582 | Loeys-Dietz syndrome 5 | 615582 | C3810012 | OMIM | 1 | | 469 | 11769 | 190230 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TGFBR1 CL E G H | 7046 | 609192 | Loeys-Dietz syndrome 1 | 609192 | C2697933 | OMIM | 1 | | 778 | 11772 | 190181 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TGFBR2 CL E G H | 7048 | 610168 | Loeys-Dietz syndrome 2 | 610168 | C2674876 | OMIM | 1 | | 842 | 11773 | 190182 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TMEM107 CL E G H | 84314 | 617563 | OROFACIODIGITAL SYNDROME XVI | 617563 | C4539729 | OMIM | 1 | | 207 | 28128 | 616183 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TMEM70 CL E G H | 54968 | 1194 | | | | ORPHA | 1 | | 252 | 26050 | 612418 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TTN CL E G H | 7273 | 169186 | | | | ORPHA | 1 | | 22859 | 12403 | 188840 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | UBE3B CL E G H | 89910 | 2707 | | | | ORPHA | 1 | | 110 | 13478 | 608047 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | WDR35 CL E G H | 57539 | 613610 | Cranioectodermal dysplasia 2 | 613610 | C3150874 | OMIM | 1 | | 523 | 29250 | 613602 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | WNT5A CL E G H | 7474 | 3107 | | | | ORPHA | 1 | | 136 | 12784 | 164975 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ZBTB24 CL E G H | 9841 | 614069 | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 614069 | C3279748 | OMIM | 1 | | 246 | 21143 | 614064 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ZNHIT3 CL E G H | 9326 | 260565 | PEHO syndrome | 260565 | C1850055 | OMIM | 1 | | 110 | 12309 | 604500 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ABAT CL E G H | 18 | 613163 | Gamma-aminobutyric acid transaminase deficiency | 613163 | C0342708 | OMIM | 1 | | 605 | 23 | 137150 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 412 | 144 | 102560 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ADAMTS2 CL E G H | 9509 | 1901 | | | | ORPHA | 1 | | 1221 | 218 | 604539 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 596 | 568 | 607246 |
HP:0000278 | 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:0000278 | HP:0000308 | Microretrognathia | 1 | ARID2 CL E G H | 196528 | 617808 | COFFIN-SIRIS SYNDROME 6 | 617808 | C4540499 | OMIM | 1 | | 227 | 18037 | 609539 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ARNT2 CL E G H | 9915 | 615926 | Webb-Dattani syndrome | 615926 | C4014708 | OMIM | 1 | | 111 | 16876 | 606036 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ASPH CL E G H | 444 | 601552 | Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | 601552 | C1832167 | OMIM | 1 | | 131 | 757 | 600582 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ASXL1 CL E G H | 171023 | 97297 | | | | ORPHA | 1 | | 503 | 18318 | 612990 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ASXL2 CL E G H | 55252 | 617190 | Shashi-Pena syndrome | 617190 | C4310672 | OMIM | 1 | | 232 | 23805 | 612991 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ATP6V1A CL E G H | 523 | 617403 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | 617403 | C4479409 | OMIM | 1 | | 123 | 851 | 607027 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ATPAF2 CL E G H | 91647 | 604273 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 | 604273 | C2700431 | OMIM | 1 | | 228 | 18802 | 608918 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | BCL11A CL E G H | 53335 | 617101 | Intellectual developmental disorder with persistence of fetal hemoglobin | 617101 | C4310833 | OMIM | 1 | | 154 | 13221 | 606557 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | BIN1 CL E G H | 274 | 169186 | | | | ORPHA | 1 | | 552 | 1052 | 601248 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 458 | 29426 | 612753 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CCDC88A CL E G H | 55704 | 617507 | PEHO-like syndrome | 617507 | C1850056 | OMIM | 1 | | 528 | 25523 | 609736 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CDC45 CL E G H | 8318 | 2554 | | | | ORPHA | 1 | | 567 | 1739 | 603465 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CDC6 CL E G H | 990 | 2554 | | | | ORPHA | 1 | | 104 | 1744 | 602627 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CDT1 CL E G H | 81620 | 2554 | | | | ORPHA | 1 | | 326 | 24576 | 605525 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CENPJ CL E G H | 55835 | 613676 | Seckel syndrome 4 | 613676 | C3888212 | OMIM | 1 | | 438 | 17272 | 609279 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CEP135 CL E G H | 9662 | 614673 | Primary autosomal recessive microcephaly 8 | 614673 | C3553414 | OMIM | 1 | | 277 | 29086 | 611423 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CEP152 CL E G H | 22995 | 613823 | Seckel syndrome 5 | 613823 | C3151187 | OMIM | 1 | | 450 | 29298 | 613529 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 296 | 18622 | 606978 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | COL13A1 CL E G H | 1305 | 616720 | Myasthenic syndrome, congenital, 19 | 616720 | C4225235 | OMIM | 1 | | 397 | 2190 | 120350 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | COL1A1 CL E G H | 1277 | 1899 | | | | ORPHA | 1 | | 2016 | 2197 | 120150 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | COL1A2 CL E G H | 1278 | 1899 | | | | ORPHA | 1 | | 1458 | 2198 | 120160 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | COX7B CL E G H | 1349 | 2556 | | | | ORPHA | 1 | | 173 | 2291 | 300885 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CRLF1 CL E G H | 9244 | 272430 | Cold-induced sweating syndrome 1 | 272430 | C1848947 | OMIM | 1 | | 80 | 2364 | 604237 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CTBP1 CL E G H | 1487 | 617915 | HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | 617915 | CN895589 | OMIM | 1 | | 217 | 2494 | 602618 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CTU2 CL E G H | 348180 | 618142 | MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME | 618142 | | OMIM | 1 | | 173 | 28005 | 617057 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | DGCR2 CL E G H | 9993 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 409 | 2845 | 600594 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | DGCR6 CL E G H | 8214 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 336 | 2846 | 601279 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | DGCR8 CL E G H | 54487 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 398 | 2847 | 609030 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 1 | | 216 | 2859 | 606418 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | DIS3L2 CL E G H | 129563 | 2849 | | | | ORPHA | 1 | | 1714 | 28648 | 614184 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | DSTYK CL E G H | 25778 | 270750 | Spastic paraplegia 23 | 270750 | C0796019 | OMIM | 1 | | 102 | 29043 | 612666 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | DVL1 CL E G H | 1855 | 3107 | | | | ORPHA | 1 | | 492 | 3084 | 601365 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | DVL3 CL E G H | 1857 | 3107 | | | | ORPHA | 1 | | 189 | 3087 | 601368 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | EDN1 CL E G H | 1906 | 615706 | Auriculocondylar syndrome 3 | 615706 | C3810332 | OMIM | 1 | | 52 | 3176 | 131240 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | EED CL E G H | 8726 | 3447 | | | | ORPHA | 1 | | 97 | 3188 | 605984 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | EED CL E G H | 8726 | 617561 | Cohen-Gibson syndrome | 617561 | C4479654 | OMIM | 1 | | 97 | 3188 | 605984 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | EP300 CL E G H | 2033 | 613684 | Rubinstein-Taybi syndrome 2 | 613684 | C3150941 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 1196 | 3434 | 126340 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ERF CL E G H | 2077 | 600775 | Lambdoidal craniosynostosis | 600775 | C1833340 | OMIM | 1 | | 131 | 3444 | 611888 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ESS2 CL E G H | 8220 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 398 | 16817 | 601755 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | EYA1 CL E G H | 2138 | 602588 | Branchiootic syndrome | 602588 | C1865143 | OMIM | 1 | | 434 | 3519 | 601653 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | EZH2 CL E G H | 2146 | 3447 | | | | ORPHA | 1 | | 416 | 3527 | 601573 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | EZH2 CL E G H | 2146 | 277590 | Weaver syndrome | 277590 | C0265210 | OMIM | 1 | | 416 | 3527 | 601573 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | FAM20C CL E G H | 56975 | 1832 | Diabetes hypogonadism deafness mental retardation | | | ORPHA | 1 | | 350 | 22140 | 611061 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | FBN1 CL E G H | 2200 | 2462 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | FBN1 CL E G H | 2200 | 616914 | Marfan lipodystrophy syndrome | 616914 | C4310796 | OMIM | 1 | | 5970 | 3603 | 134797 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | FBN1 CL E G H | 2200 | 154700 | Marfan syndrome | 154700 | C0024796 | OMIM | 1 | | 5970 | 3603 | 134797 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | FHL1 CL E G H | 2273 | 300280 | Uruguay faciocardiomusculoskeletal syndrome | 300280 | C1846010 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | FOXE1 CL E G H | 2304 | 1226 | Cervical hypertrichosis peripheral neuropathy | | | ORPHA | 1 | | 71 | 3806 | 602617 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | FOXP1 CL E G H | 27086 | 613670 | Mental retardation with language impairment and with or without autistic features | 613670 | C3150923 | OMIM | 1 | | 449 | 3823 | 605515 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | FRMPD4 CL E G H | 9758 | 300983 | Mental retardation, X-linked 104 | 300983 | C4310817 | OMIM | 1 | | 352 | 29007 | 300838 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 199 | 24678 | 610966 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | FUT8 CL E G H | 2530 | 618005 | CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION | 618005 | CN248517 | OMIM | 1 | | 79 | 4019 | 602589 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | FZD2 CL E G H | 2535 | 3107 | | | | ORPHA | 1 | | 80 | 4040 | 600667 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | GBA CL E G H | 2629 | 608013 | Gaucher disease, perinatal lethal | 608013 | C1842704 | OMIM | 1 | | | 4177 | 606463 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | GMNN CL E G H | 51053 | 2554 | | | | ORPHA | 1 | | 54 | 17493 | 602842 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | HBA1 CL E G H | 3039 | 98791 | | | | ORPHA | 1 | | 379 | 4823 | 141800 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | HBA2 CL E G H | 3040 | 98791 | | | | ORPHA | 1 | | 333 | 4824 | 141850 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | HCCS CL E G H | 3052 | 2556 | | | | ORPHA | 1 | | 218 | 4837 | 300056 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | HDAC8 CL E G H | 55869 | 300882 | Cornelia de Lange syndrome 5 | 300882 | C3550903 | OMIM | 1 | | 322 | 13315 | 300269 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 786 | 5213 | 601860 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | HYLS1 CL E G H | 219844 | 2189 | | | | ORPHA | 1 | | 229 | 26558 | 610693 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | HYMAI CL E G H | 57061 | 96191 | | | | ORPHA | 1 | | 17 | 5326 | 606546 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | IGBP1 CL E G H | 3476 | 52055 | | | | ORPHA | 1 | | 151 | 5461 | 300139 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | IGBP1 CL E G H | 3476 | 300472 | Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia | 300472 | C1845446 | OMIM | 1 | | 151 | 5461 | 300139 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 713 | 5465 | 147370 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | IGF2 CL E G H | 3481 | 616489 | Growth restriction, severe, with distinctive facies | 616489 | C4225307 | OMIM | 1 | | 98 | 5466 | 147470 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ISPD CL E G H | 729920 | 614643 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | 614643 | C3553330 | OMIM | 1 | | 647 | 37276 | 614631 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ITGA8 CL E G H | 8516 | 191830 | Renal adysplasia | 191830 | C1619700 | OMIM | 1 | | 158 | 6144 | 604063 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | KAT6B CL E G H | 23522 | 3047 | | | | ORPHA | 1 | | 605 | 17582 | 605880 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | KIF7 CL E G H | 374654 | 2189 | | | | ORPHA | 1 | | 977 | 30497 | 611254 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | KLHL7 CL E G H | 55975 | 97297 | | | | ORPHA | 1 | | 258 | 15646 | 611119 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | KPTN CL E G H | 11133 | 615637 | Mental retardation, autosomal recessive 41 | 615637 | C3810225 | OMIM | 1 | | 117 | 6404 | 615620 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | LAS1L CL E G H | 81887 | 309585 | Wilson-Turner X-linked mental retardation syndrome | 309585 | C1839736 | OMIM | 1 | | 243 | 25726 | 300964 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | LGI4 CL E G H | 163175 | 617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | 617468 | C4479539 | OMIM | 1 | | 79 | 18712 | 608303 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | LMNA CL E G H | 4000 | 212112 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 212112 | C0796031 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | LTBP4 CL E G H | 8425 | 613177 | Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | 613177 | C2750804 | OMIM | 1 | | 540 | 6717 | 604710 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | MAGEL2 CL E G H | 54551 | 615547 | Schaaf-yang syndrome | 615547 | C3809877 | OMIM | 1 | | 620 | 6814 | 605283 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | MBD5 CL E G H | 55777 | 156200 | Mental retardation, autosomal dominant 1 | 156200 | C1969562 | OMIM | 1 | | 1149 | 20444 | 611472 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | MGAT2 CL E G H | 4247 | 212066 | Carbohydrate-deficient glycoprotein syndrome type II | 212066 | C2931008 | OMIM | 1 | | 123 | 7045 | 602616 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | MOGS CL E G H | 7841 | 606056 | Congenital disorder of glycosylation type 2B | 606056 | C1853736 | OMIM | 1 | | 346 | 24862 | 601336 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | MRPS22 CL E G H | 56945 | 611719 | Combined oxidative phosphorylation deficiency 5 | 611719 | C2673642 | OMIM | 1 | | 144 | 14508 | 605810 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | MYMK CL E G H | 389827 | 254940 | Congenital nonprogressive myopathy with Moebius and Robin sequences | 254940 | C1850746 | OMIM | 1 | | 75 | 33778 | 615345 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 1 | | 3074 | 7652 | 602667 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | NDUFB11 CL E G H | 54539 | 2556 | | | | ORPHA | 1 | | 180 | 20372 | 300403 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | NFIX CL E G H | 4784 | 561 | | | | ORPHA | 1 | | 261 | 7788 | 164005 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | NFIX CL E G H | 4784 | 602535 | Marshall-Smith syndrome | 602535 | C0265211 | OMIM | 1 | | 261 | 7788 | 164005 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | NSD1 CL E G H | 64324 | 3447 | | | | ORPHA | 1 | | 1390 | 14234 | 606681 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | NSDHL CL E G H | 50814 | 300831 | NSDHL-Related Disorders | 300831 | C3151781 | OMIM | 1 | | 312 | 13398 | 300275 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ORC1 CL E G H | 4998 | 2554 | | | | ORPHA | 1 | | 214 | 8487 | 601902 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ORC4 CL E G H | 5000 | 2554 | | | | ORPHA | 1 | | 166 | 8490 | 603056 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ORC6 CL E G H | 23594 | 2554 | | | | ORPHA | 1 | | 131 | 17151 | 607213 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | OTUD6B CL E G H | 51633 | 505237 | | | | ORPHA | 1 | | 70 | 24281 | 612021 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | OTUD6B CL E G H | 51633 | 617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 617452 | C4479520 | OMIM | 1 | | 70 | 24281 | 612021 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | PCNT CL E G H | 5116 | 2637 | Hemimegalencephaly | | | ORPHA | 1 | | 1505 | 16068 | 605925 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | PCNT CL E G H | 5116 | 210720 | Microcephalic osteodysplastic primordial dwarfism type 2 | 210720 | C0432246 | OMIM | 1 | | 1505 | 16068 | 605925 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | PIEZO2 CL E G H | 63895 | 2461 | | | | ORPHA | 1 | | 755 | 26270 | 613629 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | PLAGL1 CL E G H | 5325 | 96191 | | | | ORPHA | 1 | | 32 | 9046 | 603044 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | POLR1A CL E G H | 25885 | 616462 | Acrofacial dysostosis, Cincinnati type | 616462 | C4225317 | OMIM | 1 | | 415 | 17264 | 616404 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | POLR1C CL E G H | 9533 | 861 | | | | ORPHA | 1 | | 1267 | 20194 | 610060 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | POLR1D CL E G H | 51082 | 861 | | | | ORPHA | 1 | | 94 | 20422 | 613715 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | PREPL CL E G H | 9581 | 163690 | | | | ORPHA | 1 | | 549 | 30228 | 609557 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | PRMT7 CL E G H | 54496 | 617157 | Short stature, brachydactyly, intellectual developmental disability, and seizures | 617157 | C4310689 | OMIM | 1 | | 131 | 25557 | 610087 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | PSMD12 CL E G H | 5718 | 617516 | Stankiewicz-Isidor syndrome | 617516 | C4479599 | OMIM | 1 | | 53 | 9557 | 604450 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | RARB CL E G H | 5915 | 615524 | Microphthalmia, syndromic 12 | 615524 | C3809803 | OMIM | 1 | | 97 | 9865 | 180220 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | RBBP8 CL E G H | 5932 | 251255 | Microcephaly with mental retardation and digital anomalies | 251255 | C0796063 | OMIM | 1 | | 237 | 9891 | 604124 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 214 | 34016 | 601428 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | RPL5 CL E G H | 6125 | 612561 | Aase syndrome | 612561 | C0265265 | OMIM | 1 | | 201 | 10360 | 603634 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | RPS19 CL E G H | 6223 | 105650 | Diamond-Blackfan anemia 1 | 105650 | C2676137 | OMIM | 1 | | 172 | 10402 | 603474 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | RSPO2 CL E G H | 340419 | 618022 | HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY | 618022 | CN248526 | OMIM | 1 | | 55 | 28583 | 610575 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | RYR1 CL E G H | 6261 | 169186 | | | | ORPHA | 1 | | 5062 | 10483 | 180901 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SF3B4 CL E G H | 10262 | 154400 | Nager syndrome | 154400 | C0265245 | OMIM | 1 | | 86 | 10771 | 605593 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SKI CL E G H | 6497 | 2462 | | | | ORPHA | 1 | | 910 | 10896 | 164780 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SLC25A24 CL E G H | 29957 | 612289 | Fontaine progeroid syndrome | 612289 | C2676780 | OMIM | 1 | | 83 | 20662 | 608744 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SLC3A1 CL E G H | 6519 | 163690 | | | | ORPHA | 1 | | 335 | 11025 | 104614 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 168 | 11056 | 601019 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SMOC1 CL E G H | 64093 | 206920 | Anophthalmos with limb anomalies | 206920 | C0599973 | OMIM | 1 | | 86 | 20318 | 608488 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SPEG CL E G H | 10290 | 169186 | | | | ORPHA | 1 | | 907 | 16901 | 615950 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SPEG CL E G H | 10290 | 615959 | Myopathy, centronuclear, 5 | 615959 | C4014814 | OMIM | 1 | | 907 | 16901 | 615950 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SUZ12 CL E G H | 23512 | 3447 | | | | ORPHA | 1 | | 103 | 17101 | 606245 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TBX1 CL E G H | 6899 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 972 | 11592 | 602054 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TCOF1 CL E G H | 6949 | 861 | | | | ORPHA | 1 | | 523 | 11654 | 606847 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TCTN3 CL E G H | 26123 | 2753 | Hunter Macpherson syndrome | | | ORPHA | 1 | | 327 | 24519 | 613847 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TGFB2 CL E G H | 7042 | 614816 | Loeys-Dietz syndrome 4 | 614816 | C3553762 | OMIM | 1 | | 540 | 11768 | 190220 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TGFB3 CL E G H | 7043 | 615582 | Loeys-Dietz syndrome 5 | 615582 | C3810012 | OMIM | 1 | | 469 | 11769 | 190230 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TGFBR1 CL E G H | 7046 | 609192 | Loeys-Dietz syndrome 1 | 609192 | C2697933 | OMIM | 1 | | 778 | 11772 | 190181 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TGFBR2 CL E G H | 7048 | 610168 | Loeys-Dietz syndrome 2 | 610168 | C2674876 | OMIM | 1 | | 842 | 11773 | 190182 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TMEM107 CL E G H | 84314 | 617563 | OROFACIODIGITAL SYNDROME XVI | 617563 | C4539729 | OMIM | 1 | | 207 | 28128 | 616183 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TMEM70 CL E G H | 54968 | 1194 | | | | ORPHA | 1 | | 252 | 26050 | 612418 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TTN CL E G H | 7273 | 169186 | | | | ORPHA | 1 | | 22859 | 12403 | 188840 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | UBE3B CL E G H | 89910 | 2707 | | | | ORPHA | 1 | | 110 | 13478 | 608047 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | WDR35 CL E G H | 57539 | 613610 | Cranioectodermal dysplasia 2 | 613610 | C3150874 | OMIM | 1 | | 523 | 29250 | 613602 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | WNT5A CL E G H | 7474 | 3107 | | | | ORPHA | 1 | | 136 | 12784 | 164975 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ZBTB24 CL E G H | 9841 | 614069 | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 614069 | C3279748 | OMIM | 1 | | 246 | 21143 | 614064 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ZNHIT3 CL E G H | 9326 | 260565 | PEHO syndrome | 260565 | C1850055 | OMIM | 1 | | 110 | 12309 | 604500 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 0 | | 428 | 130 | 102620 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ACTB CL E G H | 60 | 243310 | Baraitser-Winter syndrome 1 | 243310 | C1855722 | OMIM | 0 | | 406 | 132 | 102630 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ACTG1 CL E G H | 71 | 614583 | Baraitser-Winter Syndrome 2 | 614583 | C3281235 | OMIM | 0 | | 412 | 144 | 102560 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ADAMTS3 CL E G H | 9508 | 2136 | Epidermal nevus vitamin D resistant rickets | | | ORPHA | 0 | | 49 | 219 | 605011 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ALG9 CL E G H | 79796 | 263210 | Gillessen-Kaesbach-Nishimura syndrome | 263210 | C1849762 | OMIM | 0 | | 236 | 15672 | 606941 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | AMER1 CL E G H | 139285 | 2780 | Hydronephrosis congenital | | | ORPHA | 0 | | 293 | 26837 | 300647 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | BMP4 CL E G H | 652 | 607932 | Microphthalmia syndromic 6 | 607932 | C1864689 | OMIM | 0 | | 143 | 1071 | 112262 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CCBE1 CL E G H | 147372 | 2136 | Epidermal nevus vitamin D resistant rickets | | | ORPHA | 0 | | 458 | 29426 | 612753 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | COG6 CL E G H | 57511 | 614576 | Congenital disorder of glycosylation type 2L | 614576 | C3553230 | OMIM | 0 | | 315 | 18621 | 606977 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DVL1 CL E G H | 1855 | 180700 | Robinow syndrome | 180700 | C0265205 | OMIM | 0 | | 492 | 3084 | 601365 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DVL3 CL E G H | 1857 | 180700 | Robinow syndrome | 180700 | C0265205 | OMIM | 0 | | 189 | 3087 | 601368 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 0 | | 763 | 3327 | 130160 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EMC1 CL E G H | 23065 | 616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | 616875 | C4225172 | OMIM | 0 | | 689 | 28957 | 616846 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EYA1 CL E G H | 2138 | 107 | Pneumonia, eosinophilic | | | ORPHA | 0 | | 434 | 3519 | 601653 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FANCB CL E G H | 2187 | 3412 | | | | ORPHA | 0 | | 516 | 3583 | 300515 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FAT4 CL E G H | 79633 | 2136 | Epidermal nevus vitamin D resistant rickets | | | ORPHA | 0 | | 1312 | 23109 | 612411 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 0 | | 5970 | 3603 | 134797 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 0 | | 256 | 3808 | 601094 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | GLDN CL E G H | 342035 | 617194 | Lethal congenital contracture syndrome 11 | 617194 | C4310670 | OMIM | 0 | | 85 | 29514 | 608603 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | INTU CL E G H | 27152 | 617926 | OROFACIODIGITAL SYNDROME XVII | 617926 | CN902091 | OMIM | 0 | | 99 | 29239 | 610621 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 0 | | 272 | 6664 | 153455 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 0 | | 164 | 6904 | 601468 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MEGF8 CL E G H | 1954 | 614976 | Carpenter syndrome 2 | 614976 | C3554247 | OMIM | 0 | | 486 | 3233 | 604267 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 0 | | 186 | 29673 | 601103 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MPLKIP CL E G H | 136647 | 234050 | Trichothiodystrophy, nonphotosensitive 1 | 234050 | C1961117 | OMIM | 0 | | 104 | 16002 | 609188 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 0 | | 2721 | 7569 | 160745 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 0 | | 1445 | 7590 | 600922 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 519 | 8923 | 606879 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 0 | | 526 | 9414 | 176894 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 443 | 19129 | 610936 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ROR2 CL E G H | 4920 | 268310 | Robinow syndrome, autosomal recessive | 268310 | C1849334 | OMIM | 0 | | 474 | 10257 | 602337 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SETBP1 CL E G H | 26040 | 798 | | | | ORPHA | 0 | | 804 | 15573 | 611060 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SIX1 CL E G H | 6495 | 107 | Pneumonia, eosinophilic | | | ORPHA | 0 | | 157 | 10887 | 601205 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SIX5 CL E G H | 147912 | 107 | Pneumonia, eosinophilic | | | ORPHA | 0 | | 149 | 10891 | 600963 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SMAD3 CL E G H | 4088 | 284984 | | | | ORPHA | 0 | | 834 | 6769 | 603109 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 0 | | 834 | 6769 | 603109 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SMAD3 CL E G H | 4088 | 613795 | Loeys-Dietz syndrome 3 | 613795 | C3151087 | OMIM | 0 | | 834 | 6769 | 603109 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 0 | | 540 | 11768 | 190220 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 0 | | 469 | 11769 | 190230 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 0 | | 778 | 11772 | 190181 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 0 | | 842 | 11773 | 190182 |
HP:0000278 | HP:0000278 | Retrognathia | 0 | WNT5A CL E G H | 7474 | 180700 | Robinow syndrome | 180700 | C0265205 | OMIM | 0 | | 136 | 12784 | 164975 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 0 | | 428 | 130 | 102620 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ACTB CL E G H | 60 | 243310 | Baraitser-Winter syndrome 1 | 243310 | C1855722 | OMIM | 0 | | 406 | 132 | 102630 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ACTG1 CL E G H | 71 | 614583 | Baraitser-Winter Syndrome 2 | 614583 | C3281235 | OMIM | 0 | | 412 | 144 | 102560 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ADAMTS3 CL E G H | 9508 | 2136 | Epidermal nevus vitamin D resistant rickets | | | ORPHA | 0 | | 49 | 219 | 605011 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ALG9 CL E G H | 79796 | 263210 | Gillessen-Kaesbach-Nishimura syndrome | 263210 | C1849762 | OMIM | 0 | | 236 | 15672 | 606941 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | AMER1 CL E G H | 139285 | 2780 | Hydronephrosis congenital | | | ORPHA | 0 | | 293 | 26837 | 300647 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | BMP4 CL E G H | 652 | 607932 | Microphthalmia syndromic 6 | 607932 | C1864689 | OMIM | 0 | | 143 | 1071 | 112262 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CCBE1 CL E G H | 147372 | 2136 | Epidermal nevus vitamin D resistant rickets | | | ORPHA | 0 | | 458 | 29426 | 612753 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | COG6 CL E G H | 57511 | 614576 | Congenital disorder of glycosylation type 2L | 614576 | C3553230 | OMIM | 0 | | 315 | 18621 | 606977 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | DVL1 CL E G H | 1855 | 180700 | Robinow syndrome | 180700 | C0265205 | OMIM | 0 | | 492 | 3084 | 601365 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | DVL3 CL E G H | 1857 | 180700 | Robinow syndrome | 180700 | C0265205 | OMIM | 0 | | 189 | 3087 | 601368 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 0 | | 763 | 3327 | 130160 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | EMC1 CL E G H | 23065 | 616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | 616875 | C4225172 | OMIM | 0 | | 689 | 28957 | 616846 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | EYA1 CL E G H | 2138 | 107 | Pneumonia, eosinophilic | | | ORPHA | 0 | | 434 | 3519 | 601653 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | FANCB CL E G H | 2187 | 3412 | | | | ORPHA | 0 | | 516 | 3583 | 300515 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | FAT4 CL E G H | 79633 | 2136 | Epidermal nevus vitamin D resistant rickets | | | ORPHA | 0 | | 1312 | 23109 | 612411 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 0 | | 5970 | 3603 | 134797 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 0 | | 256 | 3808 | 601094 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | GLDN CL E G H | 342035 | 617194 | Lethal congenital contracture syndrome 11 | 617194 | C4310670 | OMIM | 0 | | 85 | 29514 | 608603 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | INTU CL E G H | 27152 | 617926 | OROFACIODIGITAL SYNDROME XVII | 617926 | CN902091 | OMIM | 0 | | 99 | 29239 | 610621 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 0 | | 272 | 6664 | 153455 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 0 | | 164 | 6904 | 601468 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | MEGF8 CL E G H | 1954 | 614976 | Carpenter syndrome 2 | 614976 | C3554247 | OMIM | 0 | | 486 | 3233 | 604267 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 0 | | 186 | 29673 | 601103 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | MPLKIP CL E G H | 136647 | 234050 | Trichothiodystrophy, nonphotosensitive 1 | 234050 | C1961117 | OMIM | 0 | | 104 | 16002 | 609188 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 0 | | 2721 | 7569 | 160745 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 0 | | 1445 | 7590 | 600922 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 519 | 8923 | 606879 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 0 | | 526 | 9414 | 176894 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 443 | 19129 | 610936 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ROR2 CL E G H | 4920 | 268310 | Robinow syndrome, autosomal recessive | 268310 | C1849334 | OMIM | 0 | | 474 | 10257 | 602337 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SETBP1 CL E G H | 26040 | 798 | | | | ORPHA | 0 | | 804 | 15573 | 611060 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SIX1 CL E G H | 6495 | 107 | Pneumonia, eosinophilic | | | ORPHA | 0 | | 157 | 10887 | 601205 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SIX5 CL E G H | 147912 | 107 | Pneumonia, eosinophilic | | | ORPHA | 0 | | 149 | 10891 | 600963 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SMAD3 CL E G H | 4088 | 284984 | | | | ORPHA | 0 | | 834 | 6769 | 603109 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 0 | | 834 | 6769 | 603109 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SMAD3 CL E G H | 4088 | 613795 | Loeys-Dietz syndrome 3 | 613795 | C3151087 | OMIM | 0 | | 834 | 6769 | 603109 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 0 | | 540 | 11768 | 190220 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 0 | | 469 | 11769 | 190230 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 0 | | 778 | 11772 | 190181 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 0 | | 842 | 11773 | 190182 |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | WNT5A CL E G H | 7474 | 180700 | Robinow syndrome | 180700 | C0265205 | OMIM | 0 | | 136 | 12784 | 164975 |