Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | . | | | 254 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ACAN CL E G H | 176 | 319 | OMIM:165800 | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | HP:0040284 - Very rare | | | 34 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ACOX1 CL E G H | 51 | 119 | ORPHA:2971 | Peroxisomal acyl-CoA oxidase deficiency | HP:0040282 - Frequent | | | 120 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | . | | | 120 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ACSL4 CL E G H | 2182 | 3571 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | HP:0040281 - Very frequent | | | 19 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ADAMTS10 CL E G H | 81794 | 13201 | OMIM:277600 | Weill-Marchesani syndrome 1 | . | | | 63 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ADAMTS2 CL E G H | 9509 | 218 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 165 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 72 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ADAT3 CL E G H | 113179 | 25151 | OMIM:615286 | Mental retardation, autosomal recessive 36 | . | | | 9 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ADGRG6 CL E G H | 57211 | 13841 | OMIM:616503 | Lethal congenital contracture syndrome 9 | . | | | 5 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040284 - Very rare | | | 47 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | . | | | 76 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | AGL CL E G H | 178 | 321 | OMIM:232400 | Glycogen storage disease III | . | | | 216 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | AHDC1 CL E G H | 27245 | 25230 | ORPHA:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | AHDC1 CL E G H | 27245 | 25230 | OMIM:615829 | Xia-Gibbs syndrome | . | | | 36 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:83629 | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | . | | | 60 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | AKT1 CL E G H | 207 | 391 | OMIM:176920 | Proteus syndrome, somatic | . | | | 54 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | AKT3 CL E G H | 10000 | 393 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ALDH6A1 CL E G H | 4329 | 7179 | OMIM:614105 | Methylmalonate semialdehyde dehydrogenase deficiency | . | | | 35 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | . | | | 37 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | . | | | 93 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | . | | | 132 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ALX4 CL E G H | 60529 | 450 | ORPHA:228390 | Frontonasal dysplasia-alopecia-genital anomalies syndrome | HP:0040281 - Very frequent | | | 132 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:609597 | Parietal foramina 2 | HP:0040283 - Occasional | | | 132 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | AMMECR1 CL E G H | 9949 | 467 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ANKH CL E G H | 56172 | 15492 | ORPHA:1522 | Craniometaphyseal dysplasia | HP:0040281 - Very frequent | | | 164 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | . | | | 8 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | . | | | 88 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 219 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ARID2 CL E G H | 196528 | 18037 | OMIM:617808 | Coffin-siris syndrome 6 | . | | | 25 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | . | | | 120 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ARSL CL E G H | 415 | 719 | OMIM:302950 | Chondrodysplasia punctata 1, X-linked recessive | . | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 166 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | . | | | 169 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | | | | 61 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 38 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 5 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | BBS7 CL E G H | 55212 | 18758 | OMIM:615984 | BARDET-BIEDL SYNDROME 7; BBS7 | | | | 66 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | . | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | BMP2 CL E G H | 650 | 1069 | ORPHA:261295 | 20p12.3 microdeletion syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | . | | | 78 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040283 - Occasional | | | 385 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:601005 | Timothy syndrome | . | | | 572 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CAMKMT CL E G H | 79823 | 26276 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | | | 85 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CANT1 CL E G H | 124583 | 19721 | ORPHA:1425 | Desbuquois syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 118 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | . | | | 317 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040281 - Very frequent | | | 147 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CCND2 CL E G H | 894 | 1583 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CDCA7 CL E G H | 83879 | 14628 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CDCA7 CL E G H | 83879 | 14628 | OMIM:616910 | Immunodeficiency-Centromeric instability-facial anomalies syndrome 3 | . | | | 4 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:619736 | TEEBI HYPERTELORISM SYNDROME 2; TBHS2 | | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 405 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:85173 | IMAGe syndrome | HP:0040281 - Very frequent | | | 114 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies | . | | | 114 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 515 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 165 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CLIC2 CL E G H | 1193 | 2063 | ORPHA:324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CNOT1 CL E G H | 23019 | 7877 | OMIM:618500 | Holoprosencephaly 12 with or without pancreatic agenesis | . | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | | | | 39 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:2021 | Fibrochondrogenesis | HP:0040282 - Frequent | | | 215 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | . | | | 215 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | . | | | 215 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | HP:0040281 - Very frequent | | | 215 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:604841 | Stickler syndrome, type II | . | | | 215 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:2021 | Fibrochondrogenesis | HP:0040282 - Frequent | | | 222 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | HP:0040281 - Very frequent | | | 222 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | | | | 222 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:184840 | Stickler syndrome, type III | | | | 222 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | COL18A1 CL E G H | 80781 | 2195 | ORPHA:1571 | Knobloch syndrome | HP:0040283 - Occasional | | | 177 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 373 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 243 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | HP:0040281 - Very frequent | | | 284 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | . | | | 284 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | HP:0040282 - Frequent | | | 284 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:151210 | Platyspondylic lethal skeletal dysplasia, Torrance type | | | | 284 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:108300 | Stickler syndrome, type I | . | | | 284 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | COL9A3 CL E G H | 1299 | 2219 | OMIM:620022 | | | | | 137 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | | | | 4 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | . | | | 24 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CSGALNACT1 CL E G H | 55790 | 24290 | ORPHA:1425 | Desbuquois syndrome | HP:0040281 - Very frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CSGALNACT1 CL E G H | 55790 | 24290 | OMIM:618870 | SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | . | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | . | | | 38 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | . | | | 127 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | . | | | 45 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DHCR24 CL E G H | 1718 | 2859 | ORPHA:35107 | Desmosterolosis | HP:0040282 - Frequent | | | 72 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DICER1 CL E G H | 23405 | 17098 | OMIM:618272 | Global developmental delay, lung cysts, overgrowth, and wilms tumor | . | | | 670 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | . | | | 164 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DLL3 CL E G H | 10683 | 2909 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 45 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 3 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 79 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | . | | | 79 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DOCK6 CL E G H | 57572 | 19189 | OMIM:614219 | Adams-Oliver syndrome 2 | . | | | 18 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040282 - Frequent | | | 91 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | . | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DPH1 CL E G H | 1801 | 3003 | OMIM:616901 | Developmental delay with short stature, dysmorphic features, and sparse hair | . | | | 3 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040283 - Occasional | | | 144 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 121 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 11 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 4 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DVL3 CL E G H | 1857 | 3087 | OMIM:616894 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3 | | | | 5 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 304 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DYNC2I1 CL E G H | 55112 | 21862 | OMIM:615503 | Short rib-polydactyly syndrome, type VI | . | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | . | | | 7 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 86 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | . | | | 4 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | . | | | 60 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | EFEMP2 CL E G H | 30008 | 3219 | OMIM:614437 | Cutis laxa, autosomal recessive, type IB | HP:0040283 - Occasional | | | 45 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | . | | | 65 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:618333 | MENKE-HENNEKAM SYNDROME 2; MKHK2 | | | | 250 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ERF CL E G H | 2077 | 3444 | OMIM:617180 | Chitayat syndrome | . | | | 12 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ERF CL E G H | 2077 | 3444 | OMIM:600775 | Craniosynostosis 4 | | | | 12 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ETFA CL E G H | 2108 | 3481 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 37 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ETFB CL E G H | 2109 | 3482 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 27 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ETFDH CL E G H | 2110 | 3483 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 77 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | EXOSC1 CL E G H | 51013 | 17286 | OMIM:619304 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | . | | | 3 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | EYA1 CL E G H | 2138 | 3519 | ORPHA:2792 | Otofaciocervical syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | . | | | 35 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:438178 | Fatty acyl-CoA reductase 1 deficiency | HP:0040283 - Occasional | | | 7 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:616006 | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2 | | | | 114 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040281 - Very frequent | | | 114 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | . | | | 1361 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FDFT1 CL E G H | 2222 | 3629 | OMIM:618156 | SQUALENE SYNTHASE DEFICIENCY; SQSD | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 3 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 17 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2117 | Hartsfield syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 172 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:166250 | Osteoglophonic dysplasia | . | | | 172 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:101600 | Pfeiffer syndrome | . | | | 172 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93258 | Pfeiffer syndrome type 1 | HP:0040281 - Very frequent | | | 172 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | . | | | 175 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | . | | | 175 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:87 | Apert syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123790 | Beare-Stevenson cutis gyrata syndrome | | | | 175 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101600 | Pfeiffer syndrome | . | | | 175 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93258 | Pfeiffer syndrome type 1 | HP:0040281 - Very frequent | | | 175 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93259 | Pfeiffer syndrome type 2 | HP:0040281 - Very frequent | | | 175 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93260 | Pfeiffer syndrome type 3 | HP:0040281 - Very frequent | | | 175 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | . | | | 145 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:15 | Achondroplasia | HP:0040282 - Frequent | | | 145 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:616482 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | . | | | 145 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:1860 | Thanatophoric dysplasia type 1 | HP:0040281 - Very frequent | | | 145 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:93274 | Thanatophoric dysplasia type 2 | HP:0040281 - Very frequent | | | 145 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FH CL E G H | 2271 | 3700 | OMIM:606812 | Fumarase deficiency | . | | | 301 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90650 | Otopalatodigital syndrome type 1 | HP:0040281 - Very frequent | | | 493 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | HP:0040281 - Very frequent | | | 493 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | . | | | 493 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | | | | 233 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108721 | Atelosteogenesis, type III | . | | | 233 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | . | | | 233 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:503 | Larsen syndrome | HP:0040281 - Very frequent | | | 233 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | HP:0040281 - Very frequent | | | 177 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | | | | 177 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FOXL2 CL E G H | 668 | 1092 | OMIM:110100 | Blepharophimosis, epicanthus inversus, and ptosis | . | | | 92 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | | | | 353 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 353 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 263 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FTSJ1 CL E G H | 24140 | 13254 | OMIM:309549 | Mental retardation, X-linked 9 | | | | 13 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:93328 | Autosomal dominant omodysplasia | HP:0040282 - Frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | FZD2 CL E G H | 2535 | 4040 | OMIM:164745 | OMODYSPLASIA | . | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 29 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:85212 | Fetal Gaucher disease | HP:0040282 - Frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1522 | Craniometaphyseal dysplasia | HP:0040281 - Very frequent | | | 68 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | HP:0040283 - Occasional | | | 120 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | . | | | 143 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GLUL CL E G H | 2752 | 4341 | OMIM:610015 | GLUTAMINE DEFICIENCY, CONGENITAL | | | | 98 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | . | | | 3 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 36 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040282 - Frequent | | | 101 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040282 - Frequent | | | 101 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040282 - Frequent | | | 101 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | . | | | 101 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | . | | | 101 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612463 | PSEUDOPSEUDOHYPOPARATHYROIDISM | . | | | 101 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GNPAT CL E G H | 8443 | 4416 | OMIM:222765 | Rhizomelic chondrodysplasia punctata, type 2 | . | | | 58 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040282 - Frequent | | | 240 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 15 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 92 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | . | | | 69 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | . | | | 73 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | . | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GPC6 CL E G H | 10082 | 4454 | ORPHA:93329 | Autosomal recessive omodysplasia | HP:0040281 - Very frequent | | | 99 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GPC6 CL E G H | 10082 | 4454 | OMIM:258315 | Omodysplasia 1 | . | | | 99 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | . | | | 3 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 108 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 80 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 5 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | . | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | H4C11 CL E G H | 8363 | 4785 | OMIM:619759 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2 | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040283 - Occasional | | | 580 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040284 - Very rare | | | 580 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:600430 | Chromosome 2q37 deletion syndrome | . | | | 33 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | . | | | 37 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | HECW2 CL E G H | 57520 | 29853 | OMIM:617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | | | | 11 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | HELLS CL E G H | 3070 | 4861 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | HELLS CL E G H | 3070 | 4861 | OMIM:616911 | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | | | | 6 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | HES7 CL E G H | 84667 | 15977 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 10 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 21 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | HOXB1 CL E G H | 3211 | 5111 | OMIM:614744 | Facial paresis, hereditary congenital, 3 | . | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040281 - Very frequent | | | 113 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 8 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | . | | | 98 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | HYAL1 CL E G H | 3373 | 5320 | OMIM:601492 | Mucopolysaccharidosis type IX | | | | 28 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | . | | | 25 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | . | | | 115 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040281 - Very frequent | | | 115 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | . | | | 115 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607016 | Scheie syndrome | . | | | 115 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | . | | | 4 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | IFT74 CL E G H | 80173 | 21424 | OMIM:619582 | JOUBERT SYNDROME 40; JBTS40 | | | | 3 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 65 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | IFT81 CL E G H | 28981 | 14313 | OMIM:617895 | Short-Rib thoracic dysplasia 19 with or without polydactyly | . | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | IL11RA CL E G H | 3590 | 5967 | OMIM:614188 | Craniosynostosis and dental anomalies | | | | 8 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619750 | IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94 | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:2746 | Opsismodysplasia | HP:0040281 - Very frequent | | | 18 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | INPPL1 CL E G H | 3636 | 6080 | OMIM:258480 | OPSISMODYSPLASIA | . | | | 18 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | . | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 130 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KAT6B CL E G H | 23522 | 17582 | OMIM:603736 | Ohdo syndrome, sbbys variant | . | | | 141 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KAT8 CL E G H | 84148 | 17933 | OMIM:618974 | LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 145 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KCNE5 CL E G H | 23630 | 6241 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | . | | | 13 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | . | | | 11 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | . | | | 9 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | . | | | 24 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619479 | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21 | | | | 4 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | . | | | 46 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:607131 | Al-Gazali-Bakalinova syndrome | | | | 167 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 3 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 14 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KLHL7 CL E G H | 55975 | 15646 | OMIM:617055 | Crisponi/cold-Induced sweating syndrome 3 | . | | | 42 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KNSTRN CL E G H | 90417 | 30767 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KREMEN1 CL E G H | 83999 | 17550 | OMIM:617392 | Ectodermal dysplasia 13, Hair/tooth type | HP:0040283 - Occasional | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | KYNU CL E G H | 8942 | 6469 | OMIM:617661 | Vertebral, cardiac, renal, and limb defects syndrome 2 | . | | | 5 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | LARP7 CL E G H | 51574 | 24912 | OMIM:615071 | Alazami syndrome | . | | | 16 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | LFNG CL E G H | 3955 | 6560 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 13 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 51 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 43 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | LINS1 CL E G H | 55180 | 30922 | OMIM:614340 | Mental retardation, autosomal recessive 27 | . | | | 25 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:1458 | CODAS syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | . | | | 8 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | HP:0040281 - Very frequent | | | 289 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:617809 | Geleophysic dysplasia 3 | . | | | 12 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MACF1 CL E G H | 23499 | 13664 | OMIM:618325 | Lissencephaly 9 with complex brainstem malformation | | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MAF CL E G H | 4094 | 6776 | OMIM:601088 | Ayme-Gripp syndrome | | | | 21 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | . | | | 11 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | . | | | 4 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MARS2 CL E G H | 92935 | 25133 | OMIM:616430 | Combined oxidative phosphorylation deficiency 25 | . | | | 25 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MDH1 CL E G H | 4190 | 6970 | OMIM:618959 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88 | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | . | | | 950 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | . | | | 228 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | HP:0040283 - Occasional | | | 74 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | . | | | 74 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MEF2C CL E G H | 4208 | 6996 | OMIM:613443 | Mental retardation, autosomal dominant 20 | . | | | 132 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | . | | | 13 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MESP2 CL E G H | 145873 | 29659 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 45 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | METTL23 CL E G H | 124512 | 26988 | OMIM:615942 | Mental retardation, autosomal recessive 44 | HP:0040283 - Occasional | | | 13 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MGP CL E G H | 4256 | 7060 | OMIM:245150 | Keutel syndrome | . | | | 33 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MGP CL E G H | 4256 | 7060 | ORPHA:85202 | Keutel syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040283 - Occasional | | | 3 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MN1 CL E G H | 4330 | 7180 | OMIM:618774 | CEBALID SYNDROME; CEBALID | | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MRAS CL E G H | 22808 | 7227 | OMIM:618499 | NOONAN SYNDROME 11; NS11 | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MRPS14 CL E G H | 63931 | 14049 | OMIM:618378 | Combined oxidative phosphorylation deficiency 38 | . | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563612 | Isolated exencephaly | HP:0040283 - Occasional | | | 183 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MTOR CL E G H | 2475 | 3942 | ORPHA:457485 | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | HP:0040284 - Very rare | | | 68 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | . | | | 68 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040282 - Frequent | | | 72 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | . | | | 5 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040282 - Frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | . | | | 23 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NAGA CL E G H | 4668 | 7631 | ORPHA:79280 | Alpha-N-acetylgalactosaminidase deficiency type 2 | HP:0040282 - Frequent | | | 47 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NAGA CL E G H | 4668 | 7631 | OMIM:609242 | Kanzaki disease | . | | | 47 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NBN CL E G H | 4683 | 7652 | ORPHA:647 | Nijmegen breakage syndrome | HP:0040281 - Very frequent | | | 706 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040284 - Very rare | | | 1952 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | . | | | 1952 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:420179 | Malan overgrowth syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | . | | | 40 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 494 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NPR2 CL E G H | 4882 | 7944 | ORPHA:40 | Acromesomelic dysplasia, Maroteaux type | HP:0040282 - Frequent | | | 53 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | . | | | 102 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 6 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NSRP1 CL E G H | 84081 | 25305 | OMIM:620001 | | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | HP:0040282 - Frequent | | | 84 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040282 - Frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | OBSL1 CL E G H | 23363 | 29092 | OMIM:612921 | 3-M syndrome 2 | | | | 143 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | . | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PAICS CL E G H | 10606 | 8587 | OMIM:619859 | | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PAK2 CL E G H | 5062 | 8591 | ORPHA:1571 | Knobloch syndrome | HP:0040283 - Occasional | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PAM16 CL E G H | 51025 | 29679 | OMIM:613320 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | . | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PAX1 CL E G H | 5075 | 8615 | ORPHA:2792 | Otofaciocervical syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:1529 | Craniofacial-deafness-hand syndrome | HP:0040281 - Very frequent | | | 59 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PCLO CL E G H | 27445 | 13406 | OMIM:608027 | Pontocerebellar hypoplasia, type 3 | . | | | 6 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:950 | Acrodysostosis | HP:0040281 - Very frequent | | | 113 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PDE4D CL E G H | 5144 | 8783 | OMIM:614613 | Acrodysostosis 2 with or without hormone resistance | . | | | 113 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 113 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | HP:0040281 - Very frequent | | | 113 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | HP:0040281 - Very frequent | | | 66 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 75 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PEX13 CL E G H | 5194 | 8855 | OMIM:614883 | Peroxisome biogenesis disorder 11A (Zellweger) | . | | | 66 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 66 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 46 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 59 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 62 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 47 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 99 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614862 | Peroxisome biogenesis disorder 4A (Zellweger) | . | | | 98 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:215100 | Rhizomelic chondrodysplasia punctata, type 1 | . | | | 72 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | . | | | 46 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:488635 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PIGN CL E G H | 23556 | 8967 | OMIM:614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | . | | | 37 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 3 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | . | | | 12 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | HP:0040283 - Occasional | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:60040 | Megalencephaly-capillary malformation-polymicrogyria syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:602501 | Megalencephaly-Capillary malformation-polymicrogyria syndrome | . | | | 162 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 9 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PIK3R2 CL E G H | 5296 | 8980 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PITX1 CL E G H | 5307 | 9004 | OMIM:119800 | CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF | | | | 8 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PITX2 CL E G H | 5308 | 9005 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040283 - Occasional | | | 51 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PLCB3 CL E G H | 5331 | 9056 | OMIM:618961 | SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | . | | | 105 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PLXNA1 CL E G H | 5361 | 9099 | OMIM:619955 | | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 244 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040284 - Very rare | | | 35 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | . | | | 35 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | POLE CL E G H | 5426 | 9177 | ORPHA:85173 | IMAGe syndrome | HP:0040281 - Very frequent | | | 1129 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | . | | | 76 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | POR CL E G H | 5447 | 9208 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | . | | | 76 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 36 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | . | | | 36 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PPM1B CL E G H | 5495 | 9276 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 148 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PREPL CL E G H | 9581 | 30228 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:950 | Acrodysostosis | HP:0040281 - Very frequent | | | 134 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 134 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PRKD1 CL E G H | 5587 | 9407 | OMIM:617364 | Congenital heart defects and ectodermal dysplasia | . | | | 7 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PRMT7 CL E G H | 54496 | 25557 | OMIM:617157 | Short stature, brachydactyly, intellectual developmental disability, and seizures | . | | | 6 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 9 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 34 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 54 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:300661 | Phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 27 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040283 - Occasional | | | 948 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:605309 | Macrocephaly/autism syndrome | . | | | 948 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:50945 | Blomstrand lethal chondrodysplasia | HP:0040281 - Very frequent | | | 58 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:314655 | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | HP:0040282 - Frequent | | | 53 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | HP:0040282 - Frequent | | | 90 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | . | | | 135 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611554 | LEOPARD SYNDROME 2; LPRD2 | | | | 212 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611553 | Noonan syndrome 5 | | | | 212 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RALGAPA1 CL E G H | 253959 | 17770 | OMIM:618797 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT | | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040282 - Frequent | | | 73 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RHOBTB2 CL E G H | 23221 | 18756 | OMIM:618004 | Epileptic encephalopathy, early infantile, 64 | . | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1401 | CHAND syndrome | HP:0040282 - Frequent | | | 69 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RIPPLY2 CL E G H | 134701 | 21390 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 3 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040282 - Frequent | | | 37 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 120 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 11 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 40 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 26 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 5 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 42 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPS23 CL E G H | 6228 | 10410 | OMIM:617412 | BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD | | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | . | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040282 - Frequent | | | 90 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | . | | | 90 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | . | | | 11 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 126 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 427 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | | | | 40 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SEPTIN9 CL E G H | 10801 | 7323 | OMIM:162100 | Amyotrophy, hereditary neuralgic | . | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SETD5 CL E G H | 55209 | 25566 | ORPHA:404440 | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | HP:0040283 - Occasional | | | 43 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SETD5 CL E G H | 55209 | 25566 | OMIM:615761 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 | | | | 43 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | HP:0040281 - Very frequent | | | 134 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SHH CL E G H | 6469 | 10848 | OMIM:142945 | Holoprosencephaly 3 | . | | | 67 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SHOX CL E G H | 6473 | 10853 | ORPHA:240 | Léri-Weill dyschondrosteosis | HP:0040281 - Very frequent | | | 66 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SHROOM4 CL E G H | 57477 | 29215 | ORPHA:85288 | X-linked intellectual disability, Stocco Dos Santos type | HP:0040282 - Frequent | | | 42 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 11 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:171829 | 6q16 microdeletion syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | . | | | 9 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SIX2 CL E G H | 10736 | 10888 | ORPHA:488437 | SIX2-related frontonasal dysplasia | HP:0040281 - Very frequent | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040282 - Frequent | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 166 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | . | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:256050 | Atelosteogenesis, type II | . | | | 166 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:628 | Diastrophic dysplasia | HP:0040281 - Very frequent | | | 166 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040283 - Occasional | | | 71 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | | | | 24 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SLC45A1 CL E G H | 50651 | 17939 | OMIM:617532 | Intellectual developmental disorder with neuropsychiatric features | . | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 59 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SLC6A9 CL E G H | 6536 | 11056 | OMIM:617301 | Glycine encephalopathy with normal serum glycine | | | | 4 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 617 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SMARCA4 CL E G H | 6597 | 11100 | OMIM:614609 | Coffin-Siris syndrome 4 | . | | | 617 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040283 - Occasional | | | 74 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:614608 | Coffin-Siris syndrome 3 | . | | | 87 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SMARCD1 CL E G H | 6602 | 11106 | OMIM:618779 | COFFIN-SIRIS SYNDROME 11; CSS11 | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | | | | 47 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 91 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | . | | | 22 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040282 - Frequent | | | 15 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | . | | | 15 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SNAP29 CL E G H | 9342 | 11133 | OMIM:609528 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | | | | 94 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SOST CL E G H | 50964 | 13771 | ORPHA:1513 | Craniodiaphyseal dysplasia | HP:0040281 - Very frequent | | | 26 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SOST CL E G H | 50964 | 13771 | OMIM:122860 | Craniodiaphyseal dysplasia, autosomal dominant | . | | | 26 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SOST CL E G H | 50964 | 13771 | OMIM:269500 | Sclerosteosis 1 | . | | | 26 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SOX11 CL E G H | 6664 | 11191 | OMIM:615866 | Mental retardation, autosomal dominant 27 | . | | | 14 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SOX5 CL E G H | 6660 | 11201 | OMIM:616803 | Lamb-Shaffer syndrome | . | | | 11 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | HP:0040283 - Occasional | | | 109 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SP7 CL E G H | 121340 | 17321 | OMIM:613849 | Osteogenesis imperfecta, type XII | . | | | 34 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SPATA5L1 CL E G H | 79029 | 28762 | OMIM:619616 | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SPECC1L CL E G H | 23384 | 29022 | OMIM:145420 | Hypertelorism, Teebi type | . | | | 6 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618828 | NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1 | | | | 16 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 5 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612379 | Congenital disorder of glycosylation, type IQ | . | | | 80 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301022 | Neurodevelopmental disorder, X-linked, with craniofacial abnormalities | . | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040282 - Frequent | | | 86 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:617757 | Joubert syndrome 32 | . | | | 124 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SUMF1 CL E G H | 285362 | 20376 | ORPHA:585 | Multiple sulfatase deficiency | HP:0040282 - Frequent | | | 80 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 6 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 34 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:480907 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | . | | | 34 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:241410 | Hypoparathyroidism-Retardation-Dysmorphism syndrome | . | | | 52 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:2323 | Sanjad-Sakati syndrome | HP:0040281 - Very frequent | | | 52 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | . | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | . | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | HP:0040281 - Very frequent | | | 104 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 155 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TGIF1 CL E G H | 7050 | 11776 | OMIM:142946 | Holoprosencephaly 4 | . | | | 32 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | . | | | 4 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | . | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040283 - Occasional | | | 6 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040281 - Very frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | . | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | . | | | 140 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 92 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | . | | | 133 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:166272 | Odontochondrodysplasia | HP:0040283 - Occasional | | | 133 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TRIP12 CL E G H | 9320 | 12306 | OMIM:617752 | Mental retardation, autosomal dominant 49 | . | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:2635 | Metatropic dysplasia | HP:0040281 - Very frequent | | | 214 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | | | | 214 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184252 | Spondylometaphyseal dysplasia, Kozlowski type | | | | 214 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TSHB CL E G H | 7252 | 12372 | OMIM:275100 | Hypothyroidism, congenital, nongoitrous, 4 | . | | | 9 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040282 - Frequent | | | 106 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | . | | | 14 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:227260 | FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 | | | | 7 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040282 - Frequent | | | 7 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | | | | 13 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | UQCC2 CL E G H | 84300 | 21237 | OMIM:615824 | Mitochondrial complex III deficiency, nuclear type 7 | . | | | 7 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | . | | | 27 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | HP:0040283 - Occasional | | | 27 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563612 | Isolated exencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | . | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | | | | 20 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | HP:0040283 - Occasional | | | 20 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | HP:0040283 - Occasional | | | 20 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | . | | | 83 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 10 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | WDR26 CL E G H | 80232 | 21208 | OMIM:617616 | Skraban-Deardorff syndrome | . | | | 8 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 136 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618346 | Microcephaly, growth deficiency, seizures, and brain malformations | . | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | | | | 14 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:1425 | Desbuquois syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ZBTB18 CL E G H | 10472 | 13030 | ORPHA:36367 | Distal monosomy 1q | HP:0040281 - Very frequent | | | 16 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ZBTB18 CL E G H | 10472 | 13030 | OMIM:612337 | Mental retardation, autosomal dominant 22 | . | | | 16 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ZBTB24 CL E G H | 9841 | 21143 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ZBTB24 CL E G H | 9841 | 21143 | OMIM:614069 | Immunodeficiency-Centromeric instability-facial anomalies syndrome2 | . | | | 9 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ZIC2 CL E G H | 7546 | 12873 | OMIM:609637 | Holoprosencephaly 5 | | | | 34 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | | | | 83 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ZNF292 CL E G H | 23036 | 18410 | OMIM:619188 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64 | | | | 3 | | |
HP:0005280 | HP:0005280 | Depressed nasal bridge | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:617865 | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | . | | | 5 | | |