Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:791 | Retinitis pigmentosa | | | | 826 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | | | | 254 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ABCC9 CL E G H | 10060 | 60 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | | | | 254 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 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 | | | | 34 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ACAN CL E G H | 176 | 319 | OMIM:612813 | Spondyloepimetaphyseal dysplasia, Aggrecan type | | | | 34 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ACAN CL E G H | 176 | 319 | ORPHA:171866 | Spondyloepimetaphyseal dysplasia, aggrecan type | | | | 34 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | | | | 120 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ACOX1 CL E G H | 51 | 119 | ORPHA:2971 | Peroxisomal acyl-CoA oxidase deficiency | | | | 120 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ACSL4 CL E G H | 2182 | 3571 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | | | | 19 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 72 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | | | | 72 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 123 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ACTG2 CL E G H | 72 | 145 | ORPHA:2604 | Familial visceral myopathy | | | | 23 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ACY1 CL E G H | 95 | 177 | OMIM:609924 | Aminoacylase 1 deficiency | | | | 13 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ADAMTS10 CL E G H | 81794 | 13201 | OMIM:277600 | Weill-Marchesani syndrome 1 | | | | 63 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ADAMTS2 CL E G H | 9509 | 218 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | | | | 165 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | | | | 72 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ADAT3 CL E G H | 113179 | 25151 | OMIM:615286 | Mental retardation, autosomal recessive 36 | | | | 9 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ADGRG6 CL E G H | 57211 | 13841 | OMIM:616503 | Lethal congenital contracture syndrome 9 | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ADNP CL E G H | 23394 | 15766 | OMIM:615873 | Helsmoortel-van der Aa syndrome | | | | 47 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AFF2 CL E G H | 2334 | 3776 | ORPHA:100973 | FRAXE intellectual disability | | | | 59 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AFF2 CL E G H | 2334 | 3776 | OMIM:309548 | Mental retardation, X-linked, associated with fragile site fraxe | | | | 59 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | | | | 76 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | | | | 76 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AGBL5 CL E G H | 60509 | 26147 | ORPHA:791 | Retinitis pigmentosa | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AGL CL E G H | 178 | 321 | OMIM:232400 | Glycogen storage disease III | | | | 216 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AGO2 CL E G H | 27161 | 3263 | OMIM:619149 | LESSEL-KREIENKAMP SYNDROME; LESKRES | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AHDC1 CL E G H | 27245 | 25230 | ORPHA:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | | | | 36 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AHDC1 CL E G H | 27245 | 25230 | OMIM:615829 | Xia-Gibbs syndrome | | | | 36 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | | | | 175 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AHI1 CL E G H | 54806 | 21575 | OMIM:608629 | Joubert syndrome 3 | | | | 175 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 175 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:791 | Retinitis pigmentosa | | | | 175 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AHR CL E G H | 196 | 348 | ORPHA:791 | Retinitis pigmentosa | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:83629 | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome | | | | 60 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | | | | 60 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AKT1 CL E G H | 207 | 391 | OMIM:176920 | Proteus syndrome, somatic | | | | 54 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AKT3 CL E G H | 10000 | 393 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | | | | 19 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ALDH6A1 CL E G H | 4329 | 7179 | OMIM:614105 | Methylmalonate semialdehyde dehydrogenase deficiency | | | | 35 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:79326 | ALG2-CDG | | | | 46 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | | | | 37 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | | | | 93 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | | | | 93 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ALX1 CL E G H | 8092 | 1494 | OMIM:613456 | Frontonasal dysplasia 3 | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | | | | 9 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | | | | 132 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ALX4 CL E G H | 60529 | 450 | ORPHA:228390 | Frontonasal dysplasia-alopecia-genital anomalies syndrome | | | | 132 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:609597 | Parietal foramina 2 | | | | 132 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ALX4 CL E G H | 60529 | 450 | ORPHA:52022 | Potocki-Shaffer syndrome | | | | 132 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | | | | 34 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AMER1 CL E G H | 139285 | 26837 | ORPHA:2780 | Osteopathia striata-cranial sclerosis syndrome | | | | 34 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AMMECR1 CL E G H | 9949 | 467 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | | | | 150 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ANKH CL E G H | 56172 | 15492 | ORPHA:1522 | Craniometaphyseal dysplasia | | | | 164 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | | | | 102 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | | | | 102 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | | | | 8 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | | | | 8 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AP2M1 CL E G H | 1173 | 564 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AP4B1 CL E G H | 10717 | 572 | OMIM:614066 | Spastic paraplegia 47, autosomal recessive | | | | 49 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AP4E1 CL E G H | 23431 | 573 | OMIM:613744 | Spastic paraplegia 51, autosomal recessive | | | | 48 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AP4S1 CL E G H | 11154 | 575 | OMIM:614067 | Spastic paraplegia 52, autosomal recessive | | | | 18 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | APC2 CL E G H | 10297 | 24036 | OMIM:617169 | Sotos syndrome 3 | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARHGEF18 CL E G H | 23370 | 17090 | ORPHA:791 | Retinitis pigmentosa | | | | 6 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | | | | 88 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:251056 | 6q25 microdeletion syndrome | | | | 219 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | | | | 219 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | | | | 25 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARID2 CL E G H | 196528 | 18037 | OMIM:617808 | Coffin-siris syndrome 6 | | | | 25 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | | | | 62 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARL2BP CL E G H | 23568 | 17146 | ORPHA:791 | Retinitis pigmentosa | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:791 | Retinitis pigmentosa | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:110 | Bardet-Biedl syndrome | | | | 29 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:791 | Retinitis pigmentosa | | | | 29 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | | | | 120 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARSK CL E G H | 153642 | 25239 | OMIM:619698 | MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARSL CL E G H | 415 | 719 | OMIM:302950 | Chondrodysplasia punctata 1, X-linked recessive | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300215 | Lissencephaly, X-linked, 2 | | | | 166 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ASPH CL E G H | 444 | 757 | OMIM:601552 | Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | | | | 49 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:618810 | PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ATIC CL E G H | 471 | 794 | OMIM:608688 | Aicar transformylase/imp cyclohydrolase deficiency | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | | | | 140 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | | | | 32 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | | | | 169 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | | | | 169 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AUTS2 CL E G H | 26053 | 14262 | ORPHA:352490 | Autism spectrum disorder due to AUTS2 deficiency | | | | 61 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | | | | 61 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | | | | 38 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 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:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | | | | 36 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | B4GALT7 CL E G H | 11285 | 930 | ORPHA:75496 | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | | | | 29 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | | | | 29 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | | | | 28 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | | | | 34 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BBIP1 CL E G H | 92482 | 28093 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:110 | Bardet-Biedl syndrome | | | | 114 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:791 | Retinitis pigmentosa | | | | 114 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BBS10 CL E G H | 79738 | 26291 | ORPHA:110 | Bardet-Biedl syndrome | | | | 118 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BBS12 CL E G H | 166379 | 26648 | ORPHA:110 | Bardet-Biedl syndrome | | | | 71 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:110 | Bardet-Biedl syndrome | | | | 97 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:791 | Retinitis pigmentosa | | | | 97 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BBS4 CL E G H | 585 | 969 | ORPHA:110 | Bardet-Biedl syndrome | | | | 87 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BBS5 CL E G H | 129880 | 970 | ORPHA:110 | Bardet-Biedl syndrome | | | | 25 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BBS7 CL E G H | 55212 | 18758 | ORPHA:110 | Bardet-Biedl syndrome | | | | 66 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BBS7 CL E G H | 55212 | 18758 | OMIM:615984 | BARDET-BIEDL SYNDROME 7; BBS7 | | | | 66 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BBS9 CL E G H | 27241 | 30000 | ORPHA:110 | Bardet-Biedl syndrome | | | | 119 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BCAS3 CL E G H | 54828 | 14347 | OMIM:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:2712 | Oculofaciocardiodental syndrome | | | | 101 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:791 | Retinitis pigmentosa | | | | 182 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BMP2 CL E G H | 650 | 1069 | ORPHA:261295 | 20p12.3 microdeletion syndrome | | | | 13 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | | | | 78 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | | | | 385 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2639 | Fibular aplasia-complex brachydactyly syndrome | | | | 90 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BPNT2 CL E G H | 54928 | 26019 | OMIM:614078 | Chondrodysplasia with joint dislocations, Gpapp type | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BPTF CL E G H | 2186 | 3581 | OMIM:617755 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 276 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | | | | 276 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BRCA1 CL E G H | 672 | 1100 | OMIM:617883 | Fanconi anemia, complementation group S | | | | 5769 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BRPF1 CL E G H | 7862 | 14255 | OMIM:617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | | | | 10 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | | | | 76 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CA4 CL E G H | 762 | 1375 | ORPHA:791 | Retinitis pigmentosa | | | | 23 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:601005 | Timothy syndrome | | | | 572 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CAMKMT CL E G H | 79823 | 26276 | ORPHA:163693 | 2p21 microdeletion syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CANT1 CL E G H | 124583 | 19721 | ORPHA:1425 | Desbuquois syndrome | | | | 85 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 118 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300422 | FG SYNDROME 4; FGS4 | | | | 118 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | | | | 118 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:163937 | X-linked intellectual disability, Najm type | | | | 118 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | | | | 317 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 247 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 247 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | | | | 147 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | | | | 147 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | | | | 33 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CCND2 CL E G H | 894 | 1583 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | | | | 11 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CCNK CL E G H | 8812 | 1596 | OMIM:618147 | Intellectual developmental disorder with hypertelorism and distinctive facies | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CCNQ CL E G H | 92002 | 28434 | ORPHA:140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | | | | 83 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | | | | 83 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | | | | 6 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | | | | 6 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CDCA7 CL E G H | 83879 | 14628 | ORPHA:2268 | ICF syndrome | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CDCA7 CL E G H | 83879 | 14628 | OMIM:616910 | Immunodeficiency-Centromeric instability-facial anomalies syndrome 3 | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:619736 | TEEBI HYPERTELORISM SYNDROME 2; TBHS2 | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CDHR1 CL E G H | 92211 | 14550 | ORPHA:791 | Retinitis pigmentosa | | | | 147 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 405 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:85173 | IMAGe syndrome | | | | 114 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies | | | | 114 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | | | | 200 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | | | | 27 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CEP152 CL E G H | 22995 | 29298 | OMIM:613823 | Seckel syndrome 5 | | | | 146 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CEP19 CL E G H | 84984 | 28209 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:110 | Bardet-Biedl syndrome | | | | 342 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 342 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | | | | 90 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 90 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CERKL CL E G H | 375298 | 21699 | ORPHA:791 | Retinitis pigmentosa | | | | 71 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:110 | Bardet-Biedl syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CHD2 CL E G H | 1106 | 1917 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 227 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CHD3 CL E G H | 1107 | 1918 | OMIM:618205 | Snijders blok-campeau syndrome | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CHD5 CL E G H | 26038 | 16816 | OMIM:619873 | | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | | | | 515 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 515 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CHD8 CL E G H | 57680 | 20153 | OMIM:615032 | AUTISM, SUSCEPTIBILITY TO, 18; AUTS18 | | | | 72 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 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:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CKAP2L CL E G H | 150468 | 26877 | OMIM:272440 | Filippi syndrome | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CLIC2 CL E G H | 1193 | 2063 | ORPHA:324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CLP1 CL E G H | 10978 | 16999 | ORPHA:411493 | Pontocerebellar hypoplasia type 10 | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CLP1 CL E G H | 10978 | 16999 | OMIM:615803 | Pontocerebellar hypoplasia, type 10 | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:791 | Retinitis pigmentosa | | | | 60 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CNGA1 CL E G H | 1259 | 2148 | ORPHA:791 | Retinitis pigmentosa | | | | 44 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CNGB1 CL E G H | 1258 | 2151 | ORPHA:791 | Retinitis pigmentosa | | | | 164 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CNOT1 CL E G H | 23019 | 7877 | OMIM:618500 | Holoprosencephaly 12 with or without pancreatic agenesis | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | | | | 52 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | | | | 52 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COG4 CL E G H | 25839 | 18620 | ORPHA:85172 | Microcephalic osteodysplastic dysplasia, Saul-Wilson type | | | | 67 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:618150 | Saul-Wilson syndrome | | | | 67 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | | | | 79 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | | | | 39 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:2021 | Fibrochondrogenesis | | | | 215 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | | | | 215 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | | | | 215 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | | | | 215 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:604841 | Stickler syndrome, type II | | | | 215 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:2021 | Fibrochondrogenesis | | | | 222 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | | | | 222 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | | | | 222 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:184840 | Stickler syndrome, type III | | | | 222 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COL18A1 CL E G H | 80781 | 2195 | ORPHA:1571 | Knobloch syndrome | | | | 177 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | | | | 373 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | | | | 243 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COL27A1 CL E G H | 85301 | 22986 | OMIM:615155 | Steel syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | | | | 284 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | | | | 284 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | | | | 284 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:151210 | Platyspondylic lethal skeletal dysplasia, Torrance type | | | | 284 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:108300 | Stickler syndrome, type I | | | | 284 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | | | | 749 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COL9A3 CL E G H | 1299 | 2219 | OMIM:620022 | | | | | 137 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COLEC11 CL E G H | 78989 | 17213 | OMIM:265050 | 3mc syndrome 2 | | | | 9 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COX4I1 CL E G H | 1327 | 2265 | OMIM:619060 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | | | | 6 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:791 | Retinitis pigmentosa | | | | 156 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | | | | 24 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CRX CL E G H | 1406 | 2383 | ORPHA:791 | Retinitis pigmentosa | | | | 158 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CSGALNACT1 CL E G H | 55790 | 24290 | ORPHA:1425 | Desbuquois syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CSGALNACT1 CL E G H | 55790 | 24290 | OMIM:618870 | SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CSNK2A1 CL E G H | 1457 | 2457 | OMIM:617062 | Okur-Chung neurodevelopmental syndrome | | | | 12 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:475 | Joubert syndrome | | | | 57 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CTNND2 CL E G H | 1501 | 2516 | ORPHA:281 | Monosomy 5p | | | | 15 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | | | | 159 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | | | | 38 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | | | | 127 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | | | | 87 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | | | | 27 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | | | | 27 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | | | | 45 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DDX3X CL E G H | 1654 | 2745 | OMIM:300958 | MENTAL RETARDATION, X-LINKED 102; MRX102 | | | | 57 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | | | | 33 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DHCR24 CL E G H | 1718 | 2859 | ORPHA:35107 | Desmosterolosis | | | | 72 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | | | | 72 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:791 | Retinitis pigmentosa | | | | 47 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DHPS CL E G H | 1725 | 2869 | OMIM:618480 | Neurodevelopmental disorder with seizures and speech and walking impairment | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DHX38 CL E G H | 9785 | 17211 | ORPHA:791 | Retinitis pigmentosa | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DICER1 CL E G H | 23405 | 17098 | OMIM:618272 | Global developmental delay, lung cysts, overgrowth, and wilms tumor | | | | 670 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | | | | 164 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | | | | 164 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | | | | 22 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DLL3 CL E G H | 10683 | 2909 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 45 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:2268 | ICF syndrome | | | | 79 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | | | | 79 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DOCK6 CL E G H | 57572 | 19189 | OMIM:614219 | Adams-Oliver syndrome 2 | | | | 18 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DOCK7 CL E G H | 85440 | 19190 | ORPHA:411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | | | | 11 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 91 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DPH1 CL E G H | 1801 | 3003 | OMIM:616901 | Developmental delay with short stature, dysmorphic features, and sparse hair | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | | | | 27 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | | | | 27 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | | | | 144 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 121 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 11 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 14 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DVL3 CL E G H | 1857 | 3087 | OMIM:616894 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3 | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 304 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DYNC2I1 CL E G H | 55112 | 21862 | OMIM:615503 | Short rib-polydactyly syndrome, type VI | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | | 134 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | | | | 134 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EBP CL E G H | 10682 | 3133 | OMIM:300960 | Mend syndrome | | | | 51 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ECE1 CL E G H | 1889 | 3146 | OMIM:613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | | | | 13 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | | | | 115 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 86 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 56 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 56 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EDEM3 CL E G H | 80267 | 16787 | OMIM:619493 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EDN3 CL E G H | 1908 | 3178 | ORPHA:897 | Waardenburg-Shah syndrome | | | | 67 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EDNRA CL E G H | 1909 | 3179 | OMIM:616367 | Mandibulofacial dysostosis with alopecia | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EDNRB CL E G H | 1910 | 3180 | ORPHA:897 | Waardenburg-Shah syndrome | | | | 55 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | | | | 60 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EFEMP2 CL E G H | 30008 | 3219 | OMIM:614437 | Cutis laxa, autosomal recessive, type IB | | | | 45 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | | | | 27 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | | | | 27 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | | | | 65 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:618333 | MENKE-HENNEKAM SYNDROME 2; MKHK2 | | | | 250 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ERCC1 CL E G H | 2067 | 3433 | OMIM:610758 | Cerebrooculofacioskeletal syndrome 4 | | | | 20 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | | | | 20 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | | | | 106 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | | | | 83 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | | | | 199 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | | | | 199 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ERF CL E G H | 2077 | 3444 | OMIM:617180 | Chitayat syndrome | | | | 12 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ERF CL E G H | 2077 | 3444 | OMIM:600775 | Craniosynostosis 4 | | | | 12 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | | | | 92 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ETFA CL E G H | 2108 | 3481 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | | | | 37 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ETFB CL E G H | 2109 | 3482 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | | | | 27 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ETFDH CL E G H | 2110 | 3483 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | | | | 77 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EXOSC1 CL E G H | 51013 | 17286 | OMIM:619304 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | | | | 96 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EXT2 CL E G H | 2132 | 3513 | ORPHA:52022 | Potocki-Shaffer syndrome | | | | 102 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EYA1 CL E G H | 2138 | 3519 | ORPHA:2792 | Otofaciocervical syndrome | | | | 135 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EYS CL E G H | 346007 | 21555 | ORPHA:791 | Retinitis pigmentosa | | | | 209 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FAM161A CL E G H | 84140 | 25808 | ORPHA:791 | Retinitis pigmentosa | | | | 56 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | | | | 35 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | | | | 53 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:438178 | Fatty acyl-CoA reductase 1 deficiency | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | | | | 114 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:616006 | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2 | | | | 114 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | | | | 114 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | | | | 114 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | | | | 1361 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FBXL3 CL E G H | 26224 | 13599 | OMIM:606220 | Intellectual developmental disorder with short stature, facial anomalies, and speech defects | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FBXO31 CL E G H | 79791 | 16510 | OMIM:615979 | Mental retardation, autosomal recessive 45 | | | | 8 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FDFT1 CL E G H | 2222 | 3629 | OMIM:618156 | SQUALENE SYNTHASE DEFICIENCY; SQSD | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGF3 CL E G H | 2248 | 3681 | ORPHA:90024 | Deafness with labyrinthine aplasia, microtia, and microdontia | | | | 18 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | | | | 17 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 17 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2117 | Hartsfield syndrome | | | | 172 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3366 | Isolated trigonocephaly | | | | 172 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | | | | 172 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 172 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:166250 | Osteoglophonic dysplasia | | | | 172 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:101600 | Pfeiffer syndrome | | | | 172 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93258 | Pfeiffer syndrome type 1 | | | | 172 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:190440 | Trigonocephaly 1 | | | | 172 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | | | | 175 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:87 | Apert syndrome | | | | 175 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | | | | 175 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123790 | Beare-Stevenson cutis gyrata syndrome | | | | 175 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | | | | 175 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101600 | Pfeiffer syndrome | | | | 175 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93258 | Pfeiffer syndrome type 1 | | | | 175 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93259 | Pfeiffer syndrome type 2 | | | | 175 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93260 | Pfeiffer syndrome type 3 | | | | 175 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | | | | 145 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:15 | Achondroplasia | | | | 145 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:616482 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | | | | 145 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 145 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:1860 | Thanatophoric dysplasia type 1 | | | | 145 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:93274 | Thanatophoric dysplasia type 2 | | | | 145 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FH CL E G H | 2271 | 3700 | OMIM:606812 | Fumarase deficiency | | | | 301 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | | | | 8 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | | | | 493 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:305620 | Frontometaphyseal dysplasia | | | | 493 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90650 | Otopalatodigital syndrome type 1 | | | | 493 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | | | | 493 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | | | | 493 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | | | | 493 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | | | | 233 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108721 | Atelosteogenesis, type III | | | | 233 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:112310 | Boomerang dysplasia | | | | 233 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:503 | Larsen syndrome | | | | 233 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | | | | 233 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:782 | Axenfeld-Rieger syndrome | | | | 63 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | | | | 177 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | | | | 177 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | | | | 48 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FOXL2 CL E G H | 668 | 1092 | OMIM:110100 | Blepharophimosis, epicanthus inversus, and ptosis | | | | 92 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | | | | 92 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | | | | 353 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | | | | 353 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FREM1 CL E G H | 158326 | 23399 | ORPHA:3366 | Isolated trigonocephaly | | | | 198 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | | | | 263 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FRMPD4 CL E G H | 9758 | 29007 | OMIM:300983 | MENTAL RETARDATION, X-LINKED 104; MRX104 | | | | 32 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FSCN2 CL E G H | 25794 | 3960 | ORPHA:791 | Retinitis pigmentosa | | | | 26 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FTSJ1 CL E G H | 24140 | 13254 | OMIM:309549 | Mental retardation, X-linked 9 | | | | 13 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FUT8 CL E G H | 2530 | 4019 | OMIM:618005 | Congenital disorder of glycosylation with defective fucosylation 1 | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:93328 | Autosomal dominant omodysplasia | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | FZD2 CL E G H | 2535 | 4040 | OMIM:164745 | OMODYSPLASIA | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | | | | 10 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | | | | 29 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | | | | 87 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GATAD2B CL E G H | 57459 | 30778 | OMIM:615074 | Mental retardation, autosomal dominant 18 | | | | 33 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | | | | 33 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:85212 | Fetal Gaucher disease | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2639 | Fibular aplasia-complex brachydactyly syndrome | | | | 52 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GHR CL E G H | 2690 | 4263 | ORPHA:633 | Laron syndrome | | | | 98 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1522 | Craniometaphyseal dysplasia | | | | 68 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:218400 | Craniometaphyseal dysplasia, autosomal recessive | | | | 68 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | | | | 120 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | | | | 173 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | | | | 143 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GLUL CL E G H | 2752 | 4341 | OMIM:610015 | GLUTAMINE DEFICIENCY, CONGENITAL | | | | 98 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 36 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | | | | 101 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | | | | 101 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | | | | 101 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | | | | 101 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612463 | PSEUDOPSEUDOHYPOPARATHYROIDISM | | | | 101 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | | | | 173 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | | | | 173 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GNPAT CL E G H | 8443 | 4416 | OMIM:222765 | Rhizomelic chondrodysplasia punctata, type 2 | | | | 58 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | | | | 240 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 15 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 92 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GPC6 CL E G H | 10082 | 4454 | ORPHA:93329 | Autosomal recessive omodysplasia | | | | 99 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GPC6 CL E G H | 10082 | 4454 | OMIM:258315 | Omodysplasia 1 | | | | 99 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GPRASP2 CL E G H | 114928 | 25169 | OMIM:301018 | Deafness, X-linked 7 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 108 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | | | | 80 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | GUCA1B CL E G H | 2979 | 4679 | ORPHA:791 | Retinitis pigmentosa | | | | 36 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | H4C11 CL E G H | 8363 | 4785 | OMIM:619759 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HBA1 CL E G H | 3039 | 4823 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | | | | 200 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HBA2 CL E G H | 3040 | 4824 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | | | | 88 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | | | | 580 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | | | | 580 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | | | | 11 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | | | | 33 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:600430 | Chromosome 2q37 deletion syndrome | | | | 33 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | | | | 37 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HECW2 CL E G H | 57520 | 29853 | OMIM:617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | | | | 11 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HELLS CL E G H | 3070 | 4861 | ORPHA:2268 | ICF syndrome | | | | 6 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HELLS CL E G H | 3070 | 4861 | OMIM:616911 | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | | | | 6 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HERC1 CL E G H | 8925 | 4867 | OMIM:617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | | | | 16 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | | | | 16 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HES7 CL E G H | 84667 | 15977 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 10 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 21 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HGSNAT CL E G H | 138050 | 26527 | ORPHA:791 | Retinitis pigmentosa | | | | 86 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:94063 | 12q14 microdeletion syndrome | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | | | | 8 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | | | | 8 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HOXB1 CL E G H | 3211 | 5111 | OMIM:614744 | Facial paresis, hereditary congenital, 3 | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | | | | 113 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | | | | 113 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 8 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | | | | 345 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1865 | Dyssegmental dysplasia, Silverman-Handmaker type | | | | 345 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:224410 | Dyssegmental dysplasia, Silverman-Handmaker type | | | | 345 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | | | | 345 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HYAL1 CL E G H | 3373 | 5320 | OMIM:601492 | Mucopolysaccharidosis type IX | | | | 28 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:475 | Joubert syndrome | | | | 31 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IDH3A CL E G H | 3419 | 5384 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IDH3B CL E G H | 3420 | 5385 | ORPHA:791 | Retinitis pigmentosa | | | | 30 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | | | | 86 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | | | | 86 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | | | | 115 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | | | | 115 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | | | | 115 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607016 | Scheie syndrome | | | | 115 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:791 | Retinitis pigmentosa | | | | 148 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:110 | Bardet-Biedl syndrome | | | | 48 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:791 | Retinitis pigmentosa | | | | 48 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IFT27 CL E G H | 11020 | 18626 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IFT57 CL E G H | 55081 | 17367 | OMIM:617927 | Orofaciodigital syndrome XVIII | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IFT74 CL E G H | 80173 | 21424 | ORPHA:110 | Bardet-Biedl syndrome | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IFT74 CL E G H | 80173 | 21424 | OMIM:619582 | JOUBERT SYNDROME 40; JBTS40 | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 65 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IFT81 CL E G H | 28981 | 14313 | OMIM:617895 | Short-Rib thoracic dysplasia 19 with or without polydactyly | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IFT88 CL E G H | 8100 | 20606 | ORPHA:791 | Retinitis pigmentosa | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IGBP1 CL E G H | 3476 | 5461 | ORPHA:52055 | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IGF1R CL E G H | 3480 | 5465 | ORPHA:73273 | Growth delay due to insulin-like growth factor I resistance | | | | 268 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | | | | 268 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IL11RA CL E G H | 3590 | 5967 | OMIM:614188 | Craniosynostosis and dental anomalies | | | | 8 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619750 | IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:791 | Retinitis pigmentosa | | | | 52 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:791 | Retinitis pigmentosa | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:791 | Retinitis pigmentosa | | | | 120 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:475 | Joubert syndrome | | | | 111 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 111 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 111 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:2746 | Opsismodysplasia | | | | 18 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | INPPL1 CL E G H | 3636 | 6080 | OMIM:258480 | OPSISMODYSPLASIA | | | | 18 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | | | | 229 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | INTS1 CL E G H | 26173 | 24555 | OMIM:618571 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | | | | 119 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 130 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | | | | 283 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | | | | 283 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KAT6A CL E G H | 7994 | 13013 | ORPHA:457193 | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | | | | 34 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KAT6B CL E G H | 23522 | 17582 | ORPHA:85201 | Genitopatellar syndrome | | | | 141 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KAT6B CL E G H | 23522 | 17582 | OMIM:606170 | Genitopatellar syndrome | | | | 141 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KAT6B CL E G H | 23522 | 17582 | OMIM:603736 | Ohdo syndrome, sbbys variant | | | | 141 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KAT8 CL E G H | 84148 | 17933 | OMIM:618974 | LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KATNB1 CL E G H | 10300 | 6217 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | | | | 10 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KATNIP CL E G H | 23247 | 29068 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 145 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KCNE5 CL E G H | 23630 | 6241 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | | | | 13 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | | | | 13 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | | | | 13 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | | | | 193 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | | | | 128 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KCNJ8 CL E G H | 3764 | 6269 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | | | | 23 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | | | | 11 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KDM5C CL E G H | 8242 | 11114 | ORPHA:85279 | Syndromic X-linked intellectual disability due to JARID1C mutation | | | | 81 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | | | | 53 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | | | | 9 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:475 | Joubert syndrome | | | | 24 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | | | | 24 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:617127 | Orofaciodigital syndrome XV | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619479 | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21 | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KIAA1549 CL E G H | 57670 | 22219 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | | | | 46 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | | | | 46 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KIF14 CL E G H | 9928 | 19181 | OMIM:616258 | Meckel syndrome 12 | | | | 9 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:607131 | Al-Gazali-Bakalinova syndrome | | | | 167 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:166024 | Multiple epiphyseal dysplasia, Al-Gazali type | | | | 167 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 167 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KIFBP CL E G H | 26128 | 23419 | ORPHA:66629 | Goldberg-Shprintzen megacolon syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 14 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:2884 | Piebaldism | | | | 327 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KIZ CL E G H | 55857 | 15865 | ORPHA:791 | Retinitis pigmentosa | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KLHL7 CL E G H | 55975 | 15646 | OMIM:617055 | Crisponi/cold-Induced sweating syndrome 3 | | | | 42 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KLHL7 CL E G H | 55975 | 15646 | ORPHA:791 | Retinitis pigmentosa | | | | 42 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | | | | 91 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KMT2A CL E G H | 4297 | 7132 | OMIM:605130 | Wiedemann-Steiner syndrome | | | | 91 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | | | | 660 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KNSTRN CL E G H | 90417 | 30767 | OMIM:613328 | Roifman-Chitayat syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | | | | 13 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 196 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:609942 | Noonan syndrome 3 | | | | 196 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | | | | 196 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KREMEN1 CL E G H | 83999 | 17550 | OMIM:617392 | Ectodermal dysplasia 13, Hair/tooth type | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | KYNU CL E G H | 8942 | 6469 | OMIM:617661 | Vertebral, cardiac, renal, and limb defects syndrome 2 | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LARP7 CL E G H | 51574 | 24912 | OMIM:615071 | Alazami syndrome | | | | 16 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:94063 | 12q14 microdeletion syndrome | | | | 68 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LFNG CL E G H | 3955 | 6560 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 13 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 51 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 43 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | | | | 88 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:99812 | LIG4 syndrome | | | | 88 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LINS1 CL E G H | 55180 | 30922 | OMIM:614340 | Mental retardation, autosomal recessive 27 | | | | 25 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:2229 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | | | | 645 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:619179 | MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26 | | | | 44 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:1458 | CODAS syndrome | | | | 8 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | | | | 8 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:791 | Retinitis pigmentosa | | | | 62 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LRPPRC CL E G H | 10128 | 15714 | OMIM:220111 | Leigh syndrome, french Canadian type | | | | 191 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LTBP1 CL E G H | 4052 | 6714 | OMIM:619451 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:617809 | Geleophysic dysplasia 3 | | | | 12 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LTBP4 CL E G H | 8425 | 6717 | OMIM:613177 | Cutis laxa, autosomal recessive, type IC | | | | 92 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | LZTFL1 CL E G H | 54585 | 6741 | ORPHA:110 | Bardet-Biedl syndrome | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MACF1 CL E G H | 23499 | 13664 | OMIM:618325 | Lissencephaly 9 with complex brainstem malformation | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | | | | 21 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MAF CL E G H | 4094 | 6776 | OMIM:601088 | Ayme-Gripp syndrome | | | | 21 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:2774 | Multicentric carpo-tarsal osteolysis with or without nephropathy | | | | 63 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MAK CL E G H | 4117 | 6816 | ORPHA:791 | Retinitis pigmentosa | | | | 53 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | | | | 93 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MAN1B1 CL E G H | 11253 | 6823 | OMIM:614202 | Rafiq syndrome | | | | 93 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | | | | 136 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 134 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 178 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:157800 | Cardiospondylocarpofacial syndrome | | | | 11 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | | | | 11 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | | | | 11 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MARS2 CL E G H | 92935 | 25133 | OMIM:616430 | Combined oxidative phosphorylation deficiency 25 | | | | 25 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MDH1 CL E G H | 4190 | 6970 | OMIM:618959 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MDM2 CL E G H | 4193 | 6973 | OMIM:618681 | LESSEL-KUBISCH SYNDROME; LSKB | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:309520 | Lujan-Fryns syndrome | | | | 228 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:776 | Lujan-Fryns syndrome | | | | 228 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | | | | 228 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MED13 CL E G H | 9969 | 22474 | OMIM:618009 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61 | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | | | | 74 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | | | | 74 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MEF2C CL E G H | 4208 | 6996 | OMIM:613443 | Mental retardation, autosomal dominant 20 | | | | 132 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MEIS2 CL E G H | 4212 | 7001 | ORPHA:261190 | 15q14 microdeletion syndrome | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MERTK CL E G H | 10461 | 7027 | ORPHA:791 | Retinitis pigmentosa | | | | 75 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MESP2 CL E G H | 145873 | 29659 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 45 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | METTL23 CL E G H | 124512 | 26988 | OMIM:615942 | Mental retardation, autosomal recessive 44 | | | | 13 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | | | | 39 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MGP CL E G H | 4256 | 7060 | OMIM:245150 | Keutel syndrome | | | | 33 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MGP CL E G H | 4256 | 7060 | ORPHA:85202 | Keutel syndrome | | | | 33 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MIA3 CL E G H | 375056 | 24008 | OMIM:619269 | ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | | | | 57 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | | | | 57 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | | | | 91 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:897 | Waardenburg-Shah syndrome | | | | 91 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:110 | Bardet-Biedl syndrome | | | | 69 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:110 | Bardet-Biedl syndrome | | | | 127 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:475 | Joubert syndrome | | | | 127 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:617121 | JOUBERT SYNDROME 28; JBTS28 | | | | 127 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 127 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | | | | 64 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MN1 CL E G H | 4330 | 7180 | OMIM:618774 | CEBALID SYNDROME; CEBALID | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MRAS CL E G H | 22808 | 7227 | OMIM:618499 | NOONAN SYNDROME 11; NS11 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MRPS14 CL E G H | 63931 | 14049 | OMIM:618378 | Combined oxidative phosphorylation deficiency 38 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563612 | Isolated exencephaly | | | | 183 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MTOR CL E G H | 2475 | 3942 | ORPHA:457485 | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | | | | 68 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | | | | 68 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 72 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | | | | 35 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | | | | 166 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:178110 | Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A | | | | 166 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2053 | Freeman-Sheldon syndrome | | | | 166 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 166 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MYRF CL E G H | 745 | 1181 | OMIM:618280 | Cardiac-Urogenital syndrome | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | MYT1L CL E G H | 23040 | 7623 | OMIM:616521 | Mental retardation, autosomal dominant 39 | | | | 13 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NAGA CL E G H | 4668 | 7631 | ORPHA:79280 | Alpha-N-acetylgalactosaminidase deficiency type 2 | | | | 47 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NAGA CL E G H | 4668 | 7631 | OMIM:609242 | Kanzaki disease | | | | 47 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | | | | 48 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:2053 | Freeman-Sheldon syndrome | | | | 48 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 48 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 48 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NBN CL E G H | 4683 | 7652 | ORPHA:647 | Nijmegen breakage syndrome | | | | 706 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NDE1 CL E G H | 54820 | 17619 | OMIM:614019 | Lissencephaly 4 | | | | 96 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | | | | 96 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | | | | 96 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | | | | 39 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | | | | 101 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NEK2 CL E G H | 4751 | 7745 | ORPHA:791 | Retinitis pigmentosa | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:812 | Sialidosis type 1 | | | | 43 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 52 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | | | | 1952 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NFIB CL E G H | 4781 | 7785 | OMIM:618286 | Macrocephaly, acquired, with impaired intellectual development | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:420179 | Malan overgrowth syndrome | | | | 40 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NHS CL E G H | 4810 | 7820 | ORPHA:627 | Nance-Horan syndrome | | | | 88 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NHS CL E G H | 4810 | 7820 | OMIM:302350 | Nance-Horan syndrome | | | | 88 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 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:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | | | | 45 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | | | | 10 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:130720 | Lateral meningocele syndrome | | | | 144 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:110 | Bardet-Biedl syndrome | | | | 85 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 85 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NPR2 CL E G H | 4882 | 7944 | ORPHA:40 | Acromesomelic dysplasia, Maroteaux type | | | | 53 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NR2E3 CL E G H | 10002 | 7974 | ORPHA:791 | Retinitis pigmentosa | | | | 58 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NR2F1 CL E G H | 7025 | 7975 | OMIM:615722 | Bosch-Boonstra-Schaaf optic atrophy syndrome | | | | 37 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NR2F1 CL E G H | 7025 | 7975 | ORPHA:401777 | Optic atrophy-intellectual disability syndrome | | | | 37 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | | | | 102 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NRL CL E G H | 4901 | 8002 | ORPHA:791 | Retinitis pigmentosa | | | | 30 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NSDHL CL E G H | 50814 | 13398 | ORPHA:251383 | CK syndrome | | | | 34 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:300831 | Ck syndrome | | | | 34 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NSRP1 CL E G H | 84081 | 25305 | OMIM:620001 | | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | | | | 84 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | | | | 84 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NUDT2 CL E G H | 318 | 8049 | OMIM:619844 | | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | NXN CL E G H | 64359 | 18008 | OMIM:618529 | Robinow syndrome, autosomal recessive 2 | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | OBSL1 CL E G H | 23363 | 29092 | OMIM:612921 | 3-M syndrome 2 | | | | 143 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300804 | Joubert syndrome 10 | | | | 201 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | | | | 201 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | | | | 201 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 201 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:791 | Retinitis pigmentosa | | | | 201 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | | | | 55 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | | | | 39 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | OTUD6B CL E G H | 51633 | 24281 | ORPHA:505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PACS2 CL E G H | 23241 | 23794 | OMIM:618067 | Epileptic encephalopathy, early infantile, 66 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | | | | 641 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PAICS CL E G H | 10606 | 8587 | OMIM:619859 | | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PAK2 CL E G H | 5062 | 8591 | ORPHA:1571 | Knobloch syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PAK3 CL E G H | 5063 | 8592 | OMIM:300558 | MENTAL RETARDATION, X-LINKED 30; MRX30 | | | | 27 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PAM16 CL E G H | 51025 | 29679 | OMIM:613320 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PARS2 CL E G H | 25973 | 30563 | OMIM:618437 | Epileptic encephalopathy, early infantile, 75 | | | | 14 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PAX1 CL E G H | 5075 | 8615 | ORPHA:2792 | Otofaciocervical syndrome | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PAX1 CL E G H | 5075 | 8615 | OMIM:615560 | Otofaciocervical syndrome 2 | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:1529 | Craniofacial-deafness-hand syndrome | | | | 59 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | | | | 59 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:896 | Waardenburg syndrome type 3 | | | | 59 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | | | | 59 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | | | | 59 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PCARE CL E G H | 388939 | 34383 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PCDHGC4 CL E G H | 56098 | 8717 | OMIM:619880 | | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PCLO CL E G H | 27445 | 13406 | OMIM:608027 | Pontocerebellar hypoplasia, type 3 | | | | 6 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:2637 | Microcephalic osteodysplastic primordial dwarfism type II | | | | 531 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | | | | 531 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:950 | Acrodysostosis | | | | 113 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PDE4D CL E G H | 5144 | 8783 | OMIM:614613 | Acrodysostosis 2 with or without hormone resistance | | | | 113 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 113 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | | | | 113 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PDE6A CL E G H | 5145 | 8785 | ORPHA:791 | Retinitis pigmentosa | | | | 116 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PDE6B CL E G H | 5158 | 8786 | ORPHA:791 | Retinitis pigmentosa | | | | 126 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PDE6G CL E G H | 5148 | 8789 | ORPHA:791 | Retinitis pigmentosa | | | | 18 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:616592 | Kosaki overgrowth syndrome | | | | 28 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:601812 | Premature aging syndrome, Penttinen type | | | | 28 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PDHA1 CL E G H | 5160 | 8806 | OMIM:312170 | Pyruvate dehydrogenase e1-alpha deficiency | | | | 88 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | | | | 66 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 169 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:601539 | Peroxisome biogenesis disorder 1B | | | | 169 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | | | | 169 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 75 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614870 | Peroxisome biogenesis disorder 6A (Zellweger) | | | | 75 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | | | | 75 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 65 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX12 CL E G H | 5193 | 8854 | OMIM:614859 | Peroxisome biogenesis disorder 3A (Zellweger) | | | | 65 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | | | | 65 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 66 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX13 CL E G H | 5194 | 8855 | OMIM:614883 | Peroxisome biogenesis disorder 11A (Zellweger) | | | | 66 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | | | | 66 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 46 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX14 CL E G H | 5195 | 8856 | OMIM:614887 | Peroxisome biogenesis disorder 13A (Zellweger) | . | | | 46 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | | | | 46 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 59 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | | | | 59 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 62 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | | | | 62 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | | | | 62 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 82 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | | | | 82 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 106 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | | | | 106 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 47 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | | | | 47 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 99 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:202370 | Peroxisome biogenesis disorder 2B | | | | 99 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | | | | 99 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 98 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614862 | Peroxisome biogenesis disorder 4A (Zellweger) | | | | 98 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | | | | 98 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:215100 | Rhizomelic chondrodysplasia punctata, type 1 | | | | 72 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PGAP2 CL E G H | 27315 | 17893 | OMIM:614207 | Hyperphosphatasia with mental retardation syndrome 3 | | | | 8 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 8 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PGAP3 CL E G H | 93210 | 23719 | OMIM:615716 | Hyperphosphatasia with mental retardation syndrome 4 | | | | 20 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 20 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PHF21A CL E G H | 51317 | 24156 | ORPHA:52022 | Potocki-Shaffer syndrome | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIBF1 CL E G H | 10464 | 23352 | ORPHA:475 | Joubert syndrome | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | | | | 77 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | | | | 46 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:488635 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 36 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | | | | 36 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIGN CL E G H | 23556 | 8967 | OMIM:614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | | | | 37 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIGO CL E G H | 84720 | 23215 | OMIM:614749 | Hyperphosphatasia with mental retardation syndrome 2 | | | | 84 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 84 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | | | | 12 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | | | | 12 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIGV CL E G H | 55650 | 26031 | OMIM:239300 | Hyperphosphatasia with mental retardation | | | | 57 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 57 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIGW CL E G H | 284098 | 23213 | OMIM:616025 | Glycosylphosphatidylinositol biosynthesis defect 11 | | | | 6 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 6 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIK3C2A CL E G H | 5286 | 8971 | OMIM:618440 | Oculoskeletodental syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:60040 | Megalencephaly-capillary malformation-polymicrogyria syndrome | | | | 162 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:602501 | Megalencephaly-Capillary malformation-polymicrogyria syndrome | | | | 162 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:613328 | Roifman-Chitayat syndrome | | | | 9 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:269880 | Short syndrome | | | | 43 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | | | | 43 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PIK3R2 CL E G H | 5296 | 8980 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | | | | 12 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 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:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PITX2 CL E G H | 5308 | 9005 | ORPHA:782 | Axenfeld-Rieger syndrome | | | | 51 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | | | | 51 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PKDCC CL E G H | 91461 | 25123 | OMIM:618821 | RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PLCB3 CL E G H | 5331 | 9056 | OMIM:618961 | SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PLK4 CL E G H | 10733 | 11397 | ORPHA:2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome | | | | 11 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | | | | 105 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PLXNA1 CL E G H | 5361 | 9099 | OMIM:619955 | | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | | | | 150 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | | | | 150 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 244 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | | | | 35 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | POLE CL E G H | 5426 | 9177 | ORPHA:85173 | IMAGe syndrome | | | | 1129 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | POLR1A CL E G H | 25885 | 17264 | ORPHA:1200 | Burn-McKeown syndrome | | | | 8 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | | | | 38 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | | | | 31 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | | | | 180 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:791 | Retinitis pigmentosa | | | | 180 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | | | | 76 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | POR CL E G H | 5447 | 9208 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | | | | 76 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | | | | 76 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | | | | 20 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 36 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PPM1B CL E G H | 5495 | 9276 | ORPHA:163693 | 2p21 microdeletion syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93946 | Hamel cerebro-palato-cardiac syndrome | | | | 28 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | | | | 28 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PRCD CL E G H | 768206 | 32528 | ORPHA:791 | Retinitis pigmentosa | | | | 39 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | | | | 148 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PREPL CL E G H | 9581 | 30228 | ORPHA:163693 | 2p21 microdeletion syndrome | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:950 | Acrodysostosis | | | | 134 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 134 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PRKD1 CL E G H | 5587 | 9407 | OMIM:617364 | Congenital heart defects and ectodermal dysplasia | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PRKDC CL E G H | 5591 | 9413 | OMIM:615966 | Immunodeficiency 26 with or without neurologic abnormalities | | | | 42 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PRMT7 CL E G H | 54496 | 25557 | OMIM:617157 | Short stature, brachydactyly, intellectual developmental disability, and seizures | | | | 6 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 9 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:791 | Retinitis pigmentosa | | | | 110 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 54 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PRPF3 CL E G H | 9129 | 17348 | ORPHA:791 | Retinitis pigmentosa | | | | 28 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PRPF31 CL E G H | 26121 | 15446 | ORPHA:791 | Retinitis pigmentosa | | | | 70 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PRPF4 CL E G H | 9128 | 17349 | ORPHA:791 | Retinitis pigmentosa | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PRPF6 CL E G H | 24148 | 15860 | ORPHA:791 | Retinitis pigmentosa | | | | 51 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PRPF8 CL E G H | 10594 | 17340 | ORPHA:791 | Retinitis pigmentosa | | | | 94 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:791 | Retinitis pigmentosa | | | | 159 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:300661 | Phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | | | | 27 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PSMC1 CL E G H | 5700 | 9547 | OMIM:620071 | | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:377 | Gorlin syndrome | | | | 665 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | | | | 665 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PTCH2 CL E G H | 8643 | 9586 | ORPHA:377 | Gorlin syndrome | | | | 40 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | | | | 948 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:605309 | Macrocephaly/autism syndrome | | | | 948 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:50945 | Blomstrand lethal chondrodysplasia | | | | 58 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | | | | 291 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PUF60 CL E G H | 22827 | 17042 | OMIM:615583 | Verheij syndrome | | | | 19 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PUM1 CL E G H | 9698 | 14957 | OMIM:617931 | Spinocerebellar ataxia 47 | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PURA CL E G H | 5813 | 9701 | OMIM:616158 | Mental retardation, autosomal dominant 31 | | | | 53 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:438216 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | | | | 53 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:314655 | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | | | | 53 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PUS7 CL E G H | 54517 | 26033 | OMIM:618342 | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RAB18 CL E G H | 22931 | 14244 | ORPHA:2510 | Micro syndrome | | | | 85 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | | | | 90 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:2510 | Micro syndrome | | | | 90 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:600118 | Warburg micro syndrome 1 | | | | 90 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | | | | 135 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:2510 | Micro syndrome | | | | 135 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | | | | 135 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RAC1 CL E G H | 5879 | 9801 | ORPHA:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RAC3 CL E G H | 5881 | 9803 | OMIM:618577 | NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | | | | 25 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611554 | LEOPARD SYNDROME 2; LPRD2 | | | | 212 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611553 | Noonan syndrome 5 | | | | 212 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | | | | 212 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | | | | 150 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RALA CL E G H | 5898 | 9839 | OMIM:619311 | HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RALGAPA1 CL E G H | 253959 | 17770 | OMIM:618797 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 73 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:618388 | FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2 | | | | 73 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RARB CL E G H | 5915 | 9865 | OMIM:615524 | Microphthalmia, syndromic 12 | | | | 9 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | | | | 93 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RB1 CL E G H | 5925 | 9884 | ORPHA:1587 | Monosomy 13q14 | | | | 365 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RBL2 CL E G H | 5934 | 9894 | OMIM:619690 | BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | | | | 16 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | | | | 16 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RBP3 CL E G H | 5949 | 9921 | ORPHA:791 | Retinitis pigmentosa | | | | 108 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RDH12 CL E G H | 145226 | 19977 | ORPHA:791 | Retinitis pigmentosa | | | | 45 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:1225 | Baller-Gerold syndrome | | | | 445 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | | | | 445 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | REEP6 CL E G H | 92840 | 30078 | ORPHA:791 | Retinitis pigmentosa | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RELN CL E G H | 5649 | 9957 | OMIM:257320 | Lissencephaly 2 | | | | 334 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RELN CL E G H | 5649 | 9957 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | | | | 334 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | | | | 16 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RGR CL E G H | 5995 | 9990 | ORPHA:791 | Retinitis pigmentosa | | | | 28 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:791 | Retinitis pigmentosa | | | | 107 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RHOA CL E G H | 387 | 667 | OMIM:618727 | ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB | | | | 8 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RHOBTB2 CL E G H | 23221 | 18756 | OMIM:618004 | Epileptic encephalopathy, early infantile, 64 | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | | | | 43 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1401 | CHAND syndrome | | | | 69 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RIPPLY2 CL E G H | 134701 | 21390 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:791 | Retinitis pigmentosa | | | | 47 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | | | | 37 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RNF13 CL E G H | 11342 | 10057 | OMIM:618379 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RNF13 CL E G H | 11342 | 10057 | ORPHA:544503 | RNF13-related severe early-onset epileptic encephalopathy | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ROM1 CL E G H | 6094 | 10254 | ORPHA:791 | Retinitis pigmentosa | | | | 38 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 120 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RP1 CL E G H | 6101 | 10263 | ORPHA:791 | Retinitis pigmentosa | | | | 111 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RP1L1 CL E G H | 94137 | 15946 | ORPHA:791 | Retinitis pigmentosa | | | | 284 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RP2 CL E G H | 6102 | 10274 | ORPHA:791 | Retinitis pigmentosa | | | | 45 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RP9 CL E G H | 6100 | 10288 | ORPHA:791 | Retinitis pigmentosa | | | | 14 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:791 | Retinitis pigmentosa | | | | 129 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:791 | Retinitis pigmentosa | | | | 200 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 167 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 167 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | | | | 11 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | | | | 40 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | | | | 26 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | | | | 42 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPS23 CL E G H | 6228 | 10410 | OMIM:617412 | BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | | | | 65 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RPS7 CL E G H | 6201 | 10440 | OMIM:612563 | Diamond-Blackfan anemia 8 | | | | 20 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RSRC1 CL E G H | 51319 | 24152 | OMIM:618402 | Intellectual developmental disorder, autosomal recessive 70 | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | | | | 113 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | | | | 90 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | | | | 90 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:324581 | Benign Samaritan congenital myopathy | | | | 1200 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:791 | Retinitis pigmentosa | | | | 32 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | | | | 34 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | | | | 34 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | | | | 34 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:110 | Bardet-Biedl syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 1053 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 126 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 427 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | | | | 40 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SCUBE3 CL E G H | 222663 | 13655 | OMIM:619184 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2 | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:110 | Bardet-Biedl syndrome | | | | 61 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SEC23A CL E G H | 10484 | 10701 | OMIM:607812 | Craniolenticulosutural dysplasia | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SEC23A CL E G H | 10484 | 10701 | ORPHA:50814 | Craniolenticulosutural dysplasia | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | | | | 16 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:791 | Retinitis pigmentosa | | | | 48 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SEMA5A CL E G H | 9037 | 10736 | ORPHA:281 | Monosomy 5p | | | | 6 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SEPTIN9 CL E G H | 10801 | 7323 | OMIM:162100 | Amyotrophy, hereditary neuralgic | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SET CL E G H | 6418 | 10760 | OMIM:618106 | Mental retardation, autosomal dominant 58 | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SETD5 CL E G H | 55209 | 25566 | ORPHA:404440 | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | | | | 43 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SETD5 CL E G H | 55209 | 25566 | OMIM:615761 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 | | | | 43 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:1788 | Acrofacial dysostosis, RodrÃguez type | | | | 49 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261222 | Distal 16p11.2 microdeletion syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | | | | 134 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | | | | 53 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SHH CL E G H | 6469 | 10848 | OMIM:142945 | Holoprosencephaly 3 | | | | 67 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | | | | 67 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SHOX CL E G H | 6473 | 10853 | ORPHA:240 | Léri-Weill dyschondrosteosis | | | | 66 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SHROOM4 CL E G H | 57477 | 29215 | ORPHA:85288 | X-linked intellectual disability, Stocco Dos Santos type | | | | 42 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 11 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:171829 | 6q16 microdeletion syndrome | | | | 40 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | | | | 40 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | | | | 9 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SIX2 CL E G H | 10736 | 10888 | ORPHA:488437 | SIX2-related frontonasal dysplasia | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | | | | 150 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | | | | 163 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:256050 | Atelosteogenesis, type II | | | | 166 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:628 | Diastrophic dysplasia | | | | 166 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 255 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | | | | 71 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | | | | 24 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163693 | 2p21 microdeletion syndrome | | | | 55 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SLC45A1 CL E G H | 50651 | 17939 | OMIM:617532 | Intellectual developmental disorder with neuropsychiatric features | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 59 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SLC6A1 CL E G H | 6529 | 11042 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 29 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SLC6A9 CL E G H | 6536 | 11056 | OMIM:617301 | Glycine encephalopathy with normal serum glycine | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SLC7A14 CL E G H | 57709 | 29326 | ORPHA:791 | Retinitis pigmentosa | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | | | | 504 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | | | | 617 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMARCA4 CL E G H | 6597 | 11100 | OMIM:614609 | Coffin-Siris syndrome 4 | | | | 617 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | | | | 87 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:614608 | Coffin-Siris syndrome 3 | | | | 87 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMARCD1 CL E G H | 6602 | 11106 | OMIM:618779 | COFFIN-SIRIS SYNDROME 11; CSS11 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | | | | 47 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | | | | 47 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:300590 | Cornelia de Lange syndrome 2 | | | | 135 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | | | | 22 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | | | | 19 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:2884 | Piebaldism | | | | 19 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SNAP29 CL E G H | 9342 | 11133 | ORPHA:66631 | CEDNIK syndrome | | | | 94 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SNAP29 CL E G H | 9342 | 11133 | OMIM:609528 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | | | | 94 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SNRNP200 CL E G H | 23020 | 30859 | ORPHA:791 | Retinitis pigmentosa | | | | 83 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | | | | 14 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | | | | 12 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SOST CL E G H | 50964 | 13771 | ORPHA:1513 | Craniodiaphyseal dysplasia | | | | 26 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SOST CL E G H | 50964 | 13771 | OMIM:122860 | Craniodiaphyseal dysplasia, autosomal dominant | | | | 26 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SOST CL E G H | 50964 | 13771 | OMIM:269500 | Sclerosteosis 1 | | | | 26 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | | | | 61 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:897 | Waardenburg-Shah syndrome | | | | 61 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | | | | 14 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SOX11 CL E G H | 6664 | 11191 | OMIM:615866 | Mental retardation, autosomal dominant 27 | | | | 14 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SOX5 CL E G H | 6660 | 11201 | OMIM:616803 | Lamb-Shaffer syndrome | | | | 11 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | | | | 109 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SP7 CL E G H | 121340 | 17321 | OMIM:613849 | Osteogenesis imperfecta, type XII | | | | 34 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | | | | 19 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SPATA5L1 CL E G H | 79029 | 28762 | OMIM:619616 | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:791 | Retinitis pigmentosa | | | | 48 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SPECC1L CL E G H | 23384 | 29022 | OMIM:145420 | Hypertelorism, Teebi type | | | | 6 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | | | | 6 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618828 | NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1 | | | | 16 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SPRTN CL E G H | 83932 | 25356 | OMIM:616200 | Ruijs-Aalfs syndrome | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:619595 | DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA | | | | 138 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | | | | 138 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612379 | Congenital disorder of glycosylation, type IQ | | | | 80 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612713 | Kahrizi syndrome | | | | 80 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | STAG1 CL E G H | 10274 | 11354 | OMIM:617635 | Mental retardation, autosomal dominant 47 | | | | 9 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | STAG1 CL E G H | 10274 | 11354 | ORPHA:502434 | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome | | | | 9 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301022 | Neurodevelopmental disorder, X-linked, with craniofacial abnormalities | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | | | | 110 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | | | | 71 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | STRADA CL E G H | 92335 | 30172 | OMIM:611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | | | | 6 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | STT3A CL E G H | 3703 | 6172 | OMIM:619714 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD | | | | 21 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | | | | 86 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:377 | Gorlin syndrome | | | | 124 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:475 | Joubert syndrome | | | | 124 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:617757 | Joubert syndrome 32 | | | | 124 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | | | | 124 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SUMF1 CL E G H | 285362 | 20376 | ORPHA:585 | Multiple sulfatase deficiency | | | | 80 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 108 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:480907 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | | | | 21 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TAF6 CL E G H | 6878 | 11540 | OMIM:617126 | Alazami-Yuan syndrome | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | | | | 34 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TBC1D20 CL E G H | 128637 | 16133 | ORPHA:2510 | Micro syndrome | | | | 15 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:241410 | Hypoparathyroidism-Retardation-Dysmorphism syndrome | | | | 52 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:2323 | Sanjad-Sakati syndrome | | | | 52 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | | | | 13 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | | | | 55 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TBX6 CL E G H | 6911 | 11605 | ORPHA:1797 | Autosomal dominant spondylocostal dysostosis | | | | 19 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | | | | 140 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:475 | Joubert syndrome | | | | 45 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:475 | Joubert syndrome | | | | 76 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 31 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TENT5A CL E G H | 55603 | 18345 | OMIM:617952 | Osteogenesis imperfecta, type XVIII | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | | | | 12 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | | | | 104 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 155 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TGIF1 CL E G H | 7050 | 11776 | OMIM:142946 | Holoprosencephaly 4 | | | | 32 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TLK2 CL E G H | 11011 | 11842 | OMIM:618050 | Mental retardation, autosomal dominant 57 | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | | | | 4 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 39 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | | | | 45 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 45 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 45 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TMEM218 CL E G H | 219854 | 27344 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 33 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:475 | Joubert syndrome | | | | 82 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TMEM237 CL E G H | 65062 | 14432 | OMIM:614424 | Joubert syndrome 14 | | | | 82 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 82 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 82 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:475 | Joubert syndrome | | | | 166 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 166 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | | | | 63 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TNNI2 CL E G H | 7136 | 11946 | OMIM:601680 | Arthrogryposis, distal, type 2B | | | | 37 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 37 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 43 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TNPO2 CL E G H | 30000 | 19998 | OMIM:619556 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | | | | 6 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | | | | 6 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TOGARAM1 CL E G H | 23116 | 19959 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 61 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:791 | Retinitis pigmentosa | | | | 61 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:978 | ADULT syndrome | | | | 140 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | | | | 140 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:108120 | Arthrogryposis, distal, type 1A | | | | 54 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 54 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 92 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | | | | 158 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TRAPPC9 CL E G H | 83696 | 30832 | OMIM:613192 | Mental retardation, autosomal recessive 13 | | | | 158 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:110 | Bardet-Biedl syndrome | | | | 108 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TRIM37 CL E G H | 4591 | 7523 | ORPHA:2576 | Mulibrey nanism | | | | 78 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:618825 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63 | | | | 8 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | | | | 133 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:166272 | Odontochondrodysplasia | | | | 133 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TRIP12 CL E G H | 9320 | 12306 | OMIM:617752 | Mental retardation, autosomal dominant 49 | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TRMT1 CL E G H | 55621 | 25980 | OMIM:618302 | Intellectual developmental disorder, autosomal recessive 68 | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | | | | 171 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:2635 | Metatropic dysplasia | | | | 214 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | | | | 214 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184252 | Spondylometaphyseal dysplasia, Kozlowski type | | | | 214 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TSHB CL E G H | 7252 | 12372 | OMIM:275100 | Hypothyroidism, congenital, nongoitrous, 4 | | | | 9 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | | | | 9 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:110 | Bardet-Biedl syndrome | | | | 41 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:791 | Retinitis pigmentosa | | | | 41 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TUB CL E G H | 7275 | 12406 | ORPHA:791 | Retinitis pigmentosa | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 106 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | | | | 14 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TUBGCP4 CL E G H | 27229 | 16691 | ORPHA:2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome | | | | 14 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TUBGCP6 CL E G H | 85378 | 18127 | ORPHA:2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome | | | | 61 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TULP1 CL E G H | 7287 | 12423 | ORPHA:791 | Retinitis pigmentosa | | | | 66 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:617746 | Sweeney-Cox syndrome | | | | 18 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1231 | Barber-Say syndrome | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:227260 | FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1807 | Focal facial dermal dysplasia type III | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TXNL4A CL E G H | 10907 | 30551 | OMIM:608572 | Burn-Mckeown syndrome | | | | 19 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | TXNL4A CL E G H | 10907 | 30551 | ORPHA:1200 | Burn-McKeown syndrome | | | | 19 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | | | | 13 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | UMPS CL E G H | 7372 | 12563 | ORPHA:30 | Hereditary orotic aciduria | | | | 135 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | | | | 23 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 23 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | UPF3B CL E G H | 65109 | 20439 | ORPHA:776 | Lujan-Fryns syndrome | | | | 33 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | UPF3B CL E G H | 65109 | 20439 | OMIM:300676 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 | | | | 33 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | UQCC2 CL E G H | 84300 | 21237 | OMIM:615824 | Mitochondrial complex III deficiency, nuclear type 7 | | | | 7 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:791 | Retinitis pigmentosa | | | | 777 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | | | | 27 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | | | | 27 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563612 | Isolated exencephaly | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | | | | 104 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | | | | 546 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | | | | 546 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | | | | 20 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | | | | 20 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | | | | 20 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | | | | 2 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | | | | 83 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | | | | 83 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | WDPCP CL E G H | 51057 | 28027 | ORPHA:110 | Bardet-Biedl syndrome | | | | 60 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 10 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | | | | 95 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | | | | 8 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | WDR26 CL E G H | 80232 | 21208 | OMIM:617616 | Skraban-Deardorff syndrome | | | | 8 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | | | | 136 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 136 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | WDR37 CL E G H | 22884 | 31406 | OMIM:618652 | NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618346 | Microcephaly, growth deficiency, seizures, and brain malformations | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 98 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | | | | 13 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:99812 | LIG4 syndrome | | | | 9 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | | | | 14 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:1425 | Desbuquois syndrome | | | | 14 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZBTB18 CL E G H | 10472 | 13030 | ORPHA:36367 | Distal monosomy 1q | | | | 16 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZBTB18 CL E G H | 10472 | 13030 | OMIM:612337 | Mental retardation, autosomal dominant 22 | | | | 16 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZBTB24 CL E G H | 9841 | 21143 | ORPHA:2268 | ICF syndrome | | | | 9 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZBTB24 CL E G H | 9841 | 21143 | OMIM:614069 | Immunodeficiency-Centromeric instability-facial anomalies syndrome2 | | | | 9 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZDHHC9 CL E G H | 51114 | 18475 | ORPHA:776 | Lujan-Fryns syndrome | | | | 10 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | | | | 362 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | | | | 362 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZIC2 CL E G H | 7546 | 12873 | OMIM:609637 | Holoprosencephaly 5 | | | | 34 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | | | | 34 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | | | | 83 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZNF292 CL E G H | 23036 | 18410 | OMIM:619188 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64 | | | | 3 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZNF335 CL E G H | 63925 | 15807 | OMIM:615095 | Microcephaly 10, primary, autosomal recessive | | | | 60 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:791 | Retinitis pigmentosa | | | | 14 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 49 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZNF513 CL E G H | 130557 | 26498 | ORPHA:791 | Retinitis pigmentosa | | | | 27 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZNF526 CL E G H | 116115 | 29415 | OMIM:619877 | | | | | 24 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:603671 | Acromelic frontonasal dysostosis | | | | 5 | | |
HP:0000422 | HP:0000422 | Abnormal nasal bridge morphology | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:617865 | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | | | | 5 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ABCA4 CL E G H | 24 | 34 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 826 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | . | | | 254 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | . | | | 254 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ABCC9 CL E G H | 10060 | 60 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040282 - Frequent | | | 254 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | 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:0000422 | HP:0005285 | Absent nasal bridge | 1 | ACAN CL E G H | 176 | 319 | ORPHA:171866 | Spondyloepimetaphyseal dysplasia, aggrecan type | HP:0040281 - Very frequent | | | 34 | | |
HP:0000422 | HP:0005285 | Absent nasal bridge | 1 | ACAN CL E G H | 176 | 319 | OMIM:612813 | Spondyloepimetaphyseal dysplasia, Aggrecan type | | | | 34 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ACOX1 CL E G H | 51 | 119 | ORPHA:2971 | Peroxisomal acyl-CoA oxidase deficiency | HP:0040282 - Frequent | | | 120 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | . | | | 120 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | . | | | 120 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ACSL4 CL E G H | 2182 | 3571 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | HP:0040281 - Very frequent | | | 19 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | . | | | 72 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040281 - Very frequent | | | 123 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ACTG2 CL E G H | 72 | 145 | ORPHA:2604 | Familial visceral myopathy | HP:0040283 - Occasional | | | 23 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ACY1 CL E G H | 95 | 177 | OMIM:609924 | Aminoacylase 1 deficiency | . | | | 13 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ADAMTS10 CL E G H | 81794 | 13201 | OMIM:277600 | Weill-Marchesani syndrome 1 | . | | | 63 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ADAMTS2 CL E G H | 9509 | 218 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 165 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ADAMTSL2 CL E G H | 9719 | 14631 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 72 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ADAT3 CL E G H | 113179 | 25151 | OMIM:615286 | Mental retardation, autosomal recessive 36 | . | | | 9 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ADGRG6 CL E G H | 57211 | 13841 | OMIM:616503 | Lethal congenital contracture syndrome 9 | . | | | 5 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040284 - Very rare | | | 47 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ADNP CL E G H | 23394 | 15766 | OMIM:615873 | Helsmoortel-van der Aa syndrome | | | | 47 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | AFF2 CL E G H | 2334 | 3776 | ORPHA:100973 | FRAXE intellectual disability | HP:0040282 - Frequent | | | 59 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | AFF2 CL E G H | 2334 | 3776 | OMIM:309548 | Mental retardation, X-linked, associated with fragile site fraxe | . | | | 59 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | . | | | 76 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | HP:0040281 - Very frequent | | | 76 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | AGBL5 CL E G H | 60509 | 26147 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | AGL CL E G H | 178 | 321 | OMIM:232400 | Glycogen storage disease III | . | | | 216 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | AGO2 CL E G H | 27161 | 3263 | OMIM:619149 | LESSEL-KREIENKAMP SYNDROME; LESKRES | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | AHDC1 CL E G H | 27245 | 25230 | ORPHA:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | AHDC1 CL E G H | 27245 | 25230 | OMIM:615829 | Xia-Gibbs syndrome | . | | | 36 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | AHI1 CL E G H | 54806 | 21575 | OMIM:608629 | Joubert syndrome 3 | . | | | 175 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 175 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | AHI1 CL E G H | 54806 | 21575 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 175 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | AHR CL E G H | 196 | 348 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:83629 | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | . | | | 60 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | AKT1 CL E G H | 207 | 391 | OMIM:176920 | Proteus syndrome, somatic | . | | | 54 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | AKT3 CL E G H | 10000 | 393 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ALDH6A1 CL E G H | 4329 | 7179 | OMIM:614105 | Methylmalonate semialdehyde dehydrogenase deficiency | . | | | 35 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040283 - Occasional | | | 68 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ALG2 CL E G H | 85365 | 23159 | ORPHA:79326 | ALG2-CDG | HP:0040282 - Frequent | | | 46 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | . | | | 37 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | . | | | 37 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | . | | | 93 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ALX1 CL E G H | 8092 | 1494 | OMIM:613456 | Frontonasal dysplasia 3 | . | | | 5 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | | | | 9 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | . | | | 132 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | . | | | 132 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ALX4 CL E G H | 60529 | 450 | ORPHA:228390 | Frontonasal dysplasia-alopecia-genital anomalies syndrome | HP:0040281 - Very frequent | | | 132 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ALX4 CL E G H | 60529 | 450 | OMIM:609597 | Parietal foramina 2 | HP:0040283 - Occasional | | | 132 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ALX4 CL E G H | 60529 | 450 | ORPHA:52022 | Potocki-Shaffer syndrome | HP:0040281 - Very frequent | | | 132 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | AMER1 CL E G H | 139285 | 26837 | ORPHA:2780 | Osteopathia striata-cranial sclerosis syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | AMMECR1 CL E G H | 9949 | 467 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ANKH CL E G H | 56172 | 15492 | ORPHA:1522 | Craniometaphyseal dysplasia | HP:0040281 - Very frequent | | | 164 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ANKH CL E G H | 56172 | 15492 | ORPHA:1522 | Craniometaphyseal dysplasia | HP:0040281 - Very frequent | | | 164 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | | | | 102 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | . | | | 8 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | AP2M1 CL E G H | 1173 | 564 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | AP4B1 CL E G H | 10717 | 572 | OMIM:614066 | Spastic paraplegia 47, autosomal recessive | HP:0040283 - Occasional | | | 49 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | AP4E1 CL E G H | 23431 | 573 | OMIM:613744 | Spastic paraplegia 51, autosomal recessive | . | | | 48 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | AP4S1 CL E G H | 11154 | 575 | OMIM:614067 | Spastic paraplegia 52, autosomal recessive | . | | | 18 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | APC2 CL E G H | 10297 | 24036 | OMIM:617169 | Sotos syndrome 3 | | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ARHGEF18 CL E G H | 23370 | 17090 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 6 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | . | | | 88 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ARID1B CL E G H | 57492 | 18040 | ORPHA:251056 | 6q25 microdeletion syndrome | HP:0040282 - Frequent | | | 219 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 219 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ARID2 CL E G H | 196528 | 18037 | OMIM:617808 | Coffin-siris syndrome 6 | . | | | 25 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 62 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ARL2BP CL E G H | 23568 | 17146 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ARL3 CL E G H | 403 | 694 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ARL6 CL E G H | 84100 | 13210 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 29 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ARL6 CL E G H | 84100 | 13210 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 29 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | . | | | 120 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ARSK CL E G H | 153642 | 25239 | OMIM:619698 | MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10 | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ARSL CL E G H | 415 | 719 | OMIM:302950 | Chondrodysplasia punctata 1, X-linked recessive | . | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 166 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ARX CL E G H | 170302 | 18060 | OMIM:300215 | Lissencephaly, X-linked, 2 | . | | | 166 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ARX CL E G H | 170302 | 18060 | OMIM:300215 | Lissencephaly, X-linked, 2 | . | | | 166 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ASPH CL E G H | 444 | 757 | OMIM:601552 | Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | | | | 4 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | . | | | 145 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ATAD3A CL E G H | 55210 | 25567 | OMIM:618810 | PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL | | | | 5 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ATIC CL E G H | 471 | 794 | OMIM:608688 | Aicar transformylase/imp cyclohydrolase deficiency | . | | | 4 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | . | | | 140 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | . | | | 3 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | . | | | 32 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | . | | | 169 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | AUTS2 CL E G H | 26053 | 14262 | ORPHA:352490 | Autism spectrum disorder due to AUTS2 deficiency | HP:0040282 - Frequent | | | 61 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | | | | 61 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | | | | 61 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 38 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 5 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | B4GALT7 CL E G H | 11285 | 930 | ORPHA:75496 | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 29 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | . | | | 29 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | BBIP1 CL E G H | 92482 | 28093 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | BBS1 CL E G H | 582 | 966 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | BBS1 CL E G H | 582 | 966 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 114 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | BBS10 CL E G H | 79738 | 26291 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 118 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | BBS12 CL E G H | 166379 | 26648 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 71 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | BBS2 CL E G H | 583 | 967 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 97 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | BBS2 CL E G H | 583 | 967 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 97 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | BBS4 CL E G H | 585 | 969 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | BBS5 CL E G H | 129880 | 970 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | BBS7 CL E G H | 55212 | 18758 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 66 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | BBS7 CL E G H | 55212 | 18758 | OMIM:615984 | BARDET-BIEDL SYNDROME 7; BBS7 | | | | 66 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | BBS9 CL E G H | 27241 | 30000 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 119 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | BCAS3 CL E G H | 54828 | 14347 | OMIM:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS | | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:2712 | Oculofaciocardiodental syndrome | HP:0040282 - Frequent | | | 101 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | BEST1 CL E G H | 7439 | 12703 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 182 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | . | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | BMP2 CL E G H | 650 | 1069 | ORPHA:261295 | 20p12.3 microdeletion syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | BMP2 CL E G H | 650 | 1069 | ORPHA:261295 | 20p12.3 microdeletion syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | . | | | 78 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040283 - Occasional | | | 385 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2639 | Fibular aplasia-complex brachydactyly syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | BPNT2 CL E G H | 54928 | 26019 | OMIM:614078 | Chondrodysplasia with joint dislocations, Gpapp type | . | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000422 | HP:0033142 | Long nasal bridge | 1 | BPTF CL E G H | 2186 | 3581 | OMIM:617755 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL | | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040282 - Frequent | | | 276 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | BRCA1 CL E G H | 672 | 1100 | OMIM:617883 | Fanconi anemia, complementation group S | . | | | 5769 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | BRPF1 CL E G H | 7862 | 14255 | OMIM:617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | . | | | 10 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CA4 CL E G H | 762 | 1375 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 23 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CACNA1C CL E G H | 775 | 1390 | OMIM:601005 | Timothy syndrome | . | | | 572 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CAMKMT CL E G H | 79823 | 26276 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | | | 85 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CANT1 CL E G H | 124583 | 19721 | ORPHA:1425 | Desbuquois syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 118 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CASK CL E G H | 8573 | 1497 | OMIM:300422 | FG SYNDROME 4; FGS4 | | | | 118 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CASK CL E G H | 8573 | 1497 | OMIM:300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | . | | | 118 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CASK CL E G H | 8573 | 1497 | OMIM:300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | | | | 118 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CASK CL E G H | 8573 | 1497 | ORPHA:163937 | X-linked intellectual disability, Najm type | HP:0040282 - Frequent | | | 118 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | . | | | 317 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 247 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 247 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040281 - Very frequent | | | 147 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040281 - Very frequent | | | 147 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CCND2 CL E G H | 894 | 1583 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CCNK CL E G H | 8812 | 1596 | OMIM:618147 | Intellectual developmental disorder with hypertelorism and distinctive facies | . | | | 3 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CCNQ CL E G H | 92002 | 28434 | ORPHA:140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | . | | | 83 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | . | | | 6 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CDCA7 CL E G H | 83879 | 14628 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CDCA7 CL E G H | 83879 | 14628 | OMIM:616910 | Immunodeficiency-Centromeric instability-facial anomalies syndrome 3 | . | | | 4 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | . | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CDH11 CL E G H | 1009 | 1750 | OMIM:619736 | TEEBI HYPERTELORISM SYNDROME 2; TBHS2 | | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CDHR1 CL E G H | 92211 | 14550 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 147 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | . | | | 8 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 405 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:85173 | IMAGe syndrome | HP:0040281 - Very frequent | | | 114 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CDKN1C CL E G H | 1028 | 1786 | OMIM:614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies | . | | | 114 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | . | | | 27 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | . | | | 27 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 7 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CEP152 CL E G H | 22995 | 29298 | OMIM:613823 | Seckel syndrome 5 | | | | 146 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CEP19 CL E G H | 84984 | 28209 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 342 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 342 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 90 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 90 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CERKL CL E G H | 375298 | 21699 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 71 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CHD2 CL E G H | 1106 | 1917 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 227 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CHD3 CL E G H | 1107 | 1918 | OMIM:618205 | Snijders blok-campeau syndrome | . | | | 2 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CHD5 CL E G H | 26038 | 16816 | OMIM:619873 | | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 515 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CHD8 CL E G H | 57680 | 20153 | OMIM:615032 | AUTISM, SUSCEPTIBILITY TO, 18; AUTS18 | | | | 72 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 165 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | . | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CKAP2L CL E G H | 150468 | 26877 | OMIM:272440 | Filippi syndrome | . | | | 7 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CLIC2 CL E G H | 1193 | 2063 | ORPHA:324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CLIC2 CL E G H | 1193 | 2063 | ORPHA:324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CLP1 CL E G H | 10978 | 16999 | ORPHA:411493 | Pontocerebellar hypoplasia type 10 | HP:0040282 - Frequent | | | 7 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CLP1 CL E G H | 10978 | 16999 | OMIM:615803 | Pontocerebellar hypoplasia, type 10 | . | | | 7 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 60 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CNGA1 CL E G H | 1259 | 2148 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 44 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CNGB1 CL E G H | 1258 | 2151 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 164 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CNOT1 CL E G H | 23019 | 7877 | OMIM:618500 | Holoprosencephaly 12 with or without pancreatic agenesis | . | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | HP:0040283 - Occasional | | | 52 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | . | | | 52 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | COG4 CL E G H | 25839 | 18620 | ORPHA:85172 | Microcephalic osteodysplastic dysplasia, Saul-Wilson type | HP:0040281 - Very frequent | | | 67 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | COG4 CL E G H | 25839 | 18620 | OMIM:618150 | Saul-Wilson syndrome | . | | | 67 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | HP:0040283 - Occasional | | | 79 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | | | | 39 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:2021 | Fibrochondrogenesis | HP:0040282 - Frequent | | | 215 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | . | | | 215 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | HP:0040281 - Very frequent | | | 215 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | HP:0040281 - Very frequent | | | 215 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | . | | | 215 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:604841 | Stickler syndrome, type II | . | | | 215 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:2021 | Fibrochondrogenesis | HP:0040282 - Frequent | | | 222 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | COL11A2 CL E G H | 1302 | 2187 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | | | | 222 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | HP:0040281 - Very frequent | | | 222 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | COL11A2 CL E G H | 1302 | 2187 | OMIM:184840 | Stickler syndrome, type III | | | | 222 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | COL18A1 CL E G H | 80781 | 2195 | ORPHA:1571 | Knobloch syndrome | HP:0040283 - Occasional | | | 177 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 373 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 243 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | COL27A1 CL E G H | 85301 | 22986 | OMIM:615155 | Steel syndrome | . | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | HP:0040281 - Very frequent | | | 284 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | . | | | 284 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | HP:0040282 - Frequent | | | 284 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:151210 | Platyspondylic lethal skeletal dysplasia, Torrance type | | | | 284 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:108300 | Stickler syndrome, type I | . | | | 284 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | COL9A3 CL E G H | 1299 | 2219 | OMIM:620022 | | | | | 137 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | COLEC11 CL E G H | 78989 | 17213 | OMIM:265050 | 3mc syndrome 2 | . | | | 9 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | COLEC11 CL E G H | 78989 | 17213 | OMIM:265050 | 3mc syndrome 2 | . | | | 9 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | COX4I1 CL E G H | 1327 | 2265 | OMIM:619060 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16 | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CRB1 CL E G H | 23418 | 2343 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 156 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | | | | 4 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | . | | | 24 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CRX CL E G H | 1406 | 2383 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 158 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CSGALNACT1 CL E G H | 55790 | 24290 | ORPHA:1425 | Desbuquois syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CSGALNACT1 CL E G H | 55790 | 24290 | OMIM:618870 | SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CSNK2A1 CL E G H | 1457 | 2457 | OMIM:617062 | Okur-Chung neurodevelopmental syndrome | . | | | 12 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CTNND2 CL E G H | 1501 | 2516 | ORPHA:281 | Monosomy 5p | HP:0040281 - Very frequent | | | 15 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | . | | | 159 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | . | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | . | | | 38 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | . | | | 127 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | . | | | 27 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | . | | | 45 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | DDX3X CL E G H | 1654 | 2745 | OMIM:300958 | MENTAL RETARDATION, X-LINKED 102; MRX102 | | | | 57 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0000422 | HP:0005281 | Hypoplastic nasal bridge | 1 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | | | | 72 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DHCR24 CL E G H | 1718 | 2859 | ORPHA:35107 | Desmosterolosis | HP:0040282 - Frequent | | | 72 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040281 - Very frequent | | | 159 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | DHDDS CL E G H | 79947 | 20603 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 47 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | DHPS CL E G H | 1725 | 2869 | OMIM:618480 | Neurodevelopmental disorder with seizures and speech and walking impairment | . | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | DHX38 CL E G H | 9785 | 17211 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DICER1 CL E G H | 23405 | 17098 | OMIM:618272 | Global developmental delay, lung cysts, overgrowth, and wilms tumor | . | | | 670 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | . | | | 164 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | HP:0040281 - Very frequent | | | 164 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | . | | | 164 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | 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:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DLL3 CL E G H | 10683 | 2909 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 45 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 3 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 79 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | . | | | 79 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DOCK6 CL E G H | 57572 | 19189 | OMIM:614219 | Adams-Oliver syndrome 2 | . | | | 18 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | DOCK7 CL E G H | 85440 | 19190 | ORPHA:411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040282 - Frequent | | | 91 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | . | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DPH1 CL E G H | 1801 | 3003 | OMIM:616901 | Developmental delay with short stature, dysmorphic features, and sparse hair | . | | | 3 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040283 - Occasional | | | 144 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 121 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 11 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 4 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 14 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | DVL3 CL E G H | 1857 | 3087 | OMIM:616894 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3 | | | | 5 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DVL3 CL E G H | 1857 | 3087 | OMIM:616894 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3 | | | | 5 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 304 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DYNC2I1 CL E G H | 55112 | 21862 | OMIM:615503 | Short rib-polydactyly syndrome, type VI | . | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | . | | | 7 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040282 - Frequent | | | 134 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | HP:0040283 - Occasional | | | 134 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | EBP CL E G H | 10682 | 3133 | OMIM:300960 | Mend syndrome | . | | | 51 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ECE1 CL E G H | 1889 | 3146 | OMIM:613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | . | | | 13 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | EDAR CL E G H | 10913 | 2895 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 86 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | EDARADD CL E G H | 128178 | 14341 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | EDEM3 CL E G H | 80267 | 16787 | OMIM:619493 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | EDN3 CL E G H | 1908 | 3178 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040282 - Frequent | | | 67 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | EDN3 CL E G H | 1908 | 3178 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040282 - Frequent | | | 67 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | EDNRA CL E G H | 1909 | 3179 | OMIM:616367 | Mandibulofacial dysostosis with alopecia | . | | | 3 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | EDNRB CL E G H | 1910 | 3180 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | EDNRB CL E G H | 1910 | 3180 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | . | | | 4 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | . | | | 4 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | . | | | 60 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | EFEMP2 CL E G H | 30008 | 3219 | OMIM:614437 | Cutis laxa, autosomal recessive, type IB | HP:0040283 - Occasional | | | 45 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | HP:0040281 - Very frequent | | | 27 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | . | | | 65 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:618333 | MENKE-HENNEKAM SYNDROME 2; MKHK2 | | | | 250 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:618333 | MENKE-HENNEKAM SYNDROME 2; MKHK2 | | | | 250 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ERCC1 CL E G H | 2067 | 3433 | OMIM:610758 | Cerebrooculofacioskeletal syndrome 4 | . | | | 20 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | . | | | 199 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | | | | 199 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 199 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ERF CL E G H | 2077 | 3444 | OMIM:617180 | Chitayat syndrome | . | | | 12 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ERF CL E G H | 2077 | 3444 | OMIM:600775 | Craniosynostosis 4 | | | | 12 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ETFA CL E G H | 2108 | 3481 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 37 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ETFB CL E G H | 2109 | 3482 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 27 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ETFDH CL E G H | 2110 | 3483 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 77 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | EXOSC1 CL E G H | 51013 | 17286 | OMIM:619304 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F | | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040283 - Occasional | | | 96 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | EXT2 CL E G H | 2132 | 3513 | ORPHA:52022 | Potocki-Shaffer syndrome | HP:0040281 - Very frequent | | | 102 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | . | | | 3 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | EYA1 CL E G H | 2138 | 3519 | ORPHA:2792 | Otofaciocervical syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | EYS CL E G H | 346007 | 21555 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 209 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FAM161A CL E G H | 84140 | 25808 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 56 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | . | | | 35 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | HP:0040283 - Occasional | | | 53 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FAR1 CL E G H | 84188 | 26222 | ORPHA:438178 | Fatty acyl-CoA reductase 1 deficiency | HP:0040283 - Occasional | | | 7 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FAT4 CL E G H | 79633 | 23109 | OMIM:616006 | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2 | | | | 114 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040281 - Very frequent | | | 114 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040281 - Very frequent | | | 114 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | HP:0040282 - Frequent | | | 1361 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | . | | | 1361 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FBXL3 CL E G H | 26224 | 13599 | OMIM:606220 | Intellectual developmental disorder with short stature, facial anomalies, and speech defects | . | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FBXO31 CL E G H | 79791 | 16510 | OMIM:615979 | Mental retardation, autosomal recessive 45 | . | | | 8 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FDFT1 CL E G H | 2222 | 3629 | OMIM:618156 | SQUALENE SYNTHASE DEFICIENCY; SQSD | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | HP:0040282 - Frequent | | | 62 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 3 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FGF3 CL E G H | 2248 | 3681 | ORPHA:90024 | Deafness with labyrinthine aplasia, microtia, and microdontia | HP:0040282 - Frequent | | | 18 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 17 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2117 | Hartsfield syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3366 | Isolated trigonocephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 172 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:166250 | Osteoglophonic dysplasia | . | | | 172 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:101600 | Pfeiffer syndrome | . | | | 172 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93258 | Pfeiffer syndrome type 1 | HP:0040281 - Very frequent | | | 172 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:190440 | Trigonocephaly 1 | | | | 172 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | . | | | 175 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | . | | | 175 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:87 | Apert syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123790 | Beare-Stevenson cutis gyrata syndrome | | | | 175 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101600 | Pfeiffer syndrome | . | | | 175 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93258 | Pfeiffer syndrome type 1 | HP:0040281 - Very frequent | | | 175 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93259 | Pfeiffer syndrome type 2 | HP:0040281 - Very frequent | | | 175 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93260 | Pfeiffer syndrome type 3 | HP:0040281 - Very frequent | | | 175 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | . | | | 145 | | |
HP:0000422 | HP:0003194 | Short nasal bridge | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:15 | Achondroplasia | HP:0040282 - Frequent | | | 145 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:15 | Achondroplasia | HP:0040282 - Frequent | | | 145 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:616482 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | . | | | 145 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:1860 | Thanatophoric dysplasia type 1 | HP:0040281 - Very frequent | | | 145 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:93274 | Thanatophoric dysplasia type 2 | HP:0040281 - Very frequent | | | 145 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FH CL E G H | 2271 | 3700 | OMIM:606812 | Fumarase deficiency | . | | | 301 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:305620 | Frontometaphyseal dysplasia | . | | | 493 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040281 - Very frequent | | | 493 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:90650 | Otopalatodigital syndrome type 1 | HP:0040281 - Very frequent | | | 493 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:90650 | Otopalatodigital syndrome type 1 | HP:0040281 - Very frequent | | | 493 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | HP:0040281 - Very frequent | | | 493 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | . | | | 493 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | . | | | 493 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | | | | 233 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:108721 | Atelosteogenesis, type III | . | | | 233 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:112310 | Boomerang dysplasia | . | | | 233 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | . | | | 233 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FLNB CL E G H | 2317 | 3755 | ORPHA:503 | Larsen syndrome | HP:0040281 - Very frequent | | | 233 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | HP:0040281 - Very frequent | | | 177 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | | | | 177 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FOXL2 CL E G H | 668 | 1092 | OMIM:110100 | Blepharophimosis, epicanthus inversus, and ptosis | . | | | 92 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FOXL2 CL E G H | 668 | 1092 | OMIM:110100 | Blepharophimosis, epicanthus inversus, and ptosis | . | | | 92 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | HP:0040282 - Frequent | | | 92 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | | | | 353 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | . | | | 353 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 353 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 353 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FREM1 CL E G H | 158326 | 23399 | ORPHA:3366 | Isolated trigonocephaly | HP:0040282 - Frequent | | | 198 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 263 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 263 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FRMPD4 CL E G H | 9758 | 29007 | OMIM:300983 | MENTAL RETARDATION, X-LINKED 104; MRX104 | | | | 32 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FSCN2 CL E G H | 25794 | 3960 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 26 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FTSJ1 CL E G H | 24140 | 13254 | OMIM:309549 | Mental retardation, X-linked 9 | | | | 13 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FUT8 CL E G H | 2530 | 4019 | OMIM:618005 | Congenital disorder of glycosylation with defective fucosylation 1 | . | | | 3 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FZD2 CL E G H | 2535 | 4040 | ORPHA:93328 | Autosomal dominant omodysplasia | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | FZD2 CL E G H | 2535 | 4040 | OMIM:164745 | OMODYSPLASIA | . | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | . | | | 37 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 29 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 29 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GATAD2B CL E G H | 57459 | 30778 | OMIM:615074 | Mental retardation, autosomal dominant 18 | . | | | 33 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | 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:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:85212 | Fetal Gaucher disease | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2639 | Fibular aplasia-complex brachydactyly syndrome | HP:0040281 - Very frequent | | | 52 | | |
HP:0000422 | HP:0005281 | Hypoplastic nasal bridge | 1 | GHR CL E G H | 2690 | 4263 | ORPHA:633 | Laron syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1522 | Craniometaphyseal dysplasia | HP:0040281 - Very frequent | | | 68 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1522 | Craniometaphyseal dysplasia | HP:0040281 - Very frequent | | | 68 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:218400 | Craniometaphyseal dysplasia, autosomal recessive | . | | | 68 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040281 - Very frequent | | | 68 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | . | | | 68 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | HP:0040283 - Occasional | | | 120 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | . | | | 143 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GLUL CL E G H | 2752 | 4341 | OMIM:610015 | GLUTAMINE DEFICIENCY, CONGENITAL | | | | 98 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GLUL CL E G H | 2752 | 4341 | OMIM:610015 | GLUTAMINE DEFICIENCY, CONGENITAL | | | | 98 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | . | | | 3 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 36 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040282 - Frequent | | | 101 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040282 - Frequent | | | 101 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040282 - Frequent | | | 101 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | . | | | 101 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | . | | | 101 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:612463 | PSEUDOPSEUDOHYPOPARATHYROIDISM | . | | | 101 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | HP:0040281 - Very frequent | | | 173 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | . | | | 173 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GNPAT CL E G H | 8443 | 4416 | OMIM:222765 | Rhizomelic chondrodysplasia punctata, type 2 | . | | | 58 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GNPAT CL E G H | 8443 | 4416 | OMIM:222765 | Rhizomelic chondrodysplasia punctata, type 2 | . | | | 58 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040282 - Frequent | | | 240 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 15 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 92 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | . | | | 69 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | 73 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | . | | | 73 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | . | | | 73 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | . | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | . | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GPC6 CL E G H | 10082 | 4454 | ORPHA:93329 | Autosomal recessive omodysplasia | HP:0040281 - Very frequent | | | 99 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GPC6 CL E G H | 10082 | 4454 | OMIM:258315 | Omodysplasia 1 | . | | | 99 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GPC6 CL E G H | 10082 | 4454 | OMIM:258315 | Omodysplasia 1 | . | | | 99 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GPRASP2 CL E G H | 114928 | 25169 | OMIM:301018 | Deafness, X-linked 7 | . | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | . | | | 3 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 108 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 80 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 80 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 5 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | . | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | GUCA1B CL E G H | 2979 | 4679 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 36 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | H4C11 CL E G H | 8363 | 4785 | OMIM:619759 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2 | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | HBA1 CL E G H | 3039 | 4823 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 200 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | HBA2 CL E G H | 3040 | 4824 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 88 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040283 - Occasional | | | 580 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040284 - Very rare | | | 580 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | HDAC4 CL E G H | 9759 | 14063 | OMIM:600430 | Chromosome 2q37 deletion syndrome | . | | | 33 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | | | | 37 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | . | | | 37 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | HECW2 CL E G H | 57520 | 29853 | OMIM:617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | | | | 11 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | HELLS CL E G H | 3070 | 4861 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | HELLS CL E G H | 3070 | 4861 | OMIM:616911 | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | | | | 6 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | HERC1 CL E G H | 8925 | 4867 | OMIM:617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | . | | | 16 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | HES7 CL E G H | 84667 | 15977 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 10 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | 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:0000422 | HP:0000431 | Wide nasal bridge | 1 | HGSNAT CL E G H | 138050 | 26527 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 86 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | . | | | 13 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | . | | | 13 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040282 - Frequent | | | 8 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040282 - Frequent | | | 8 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | HOXB1 CL E G H | 3211 | 5111 | OMIM:614744 | Facial paresis, hereditary congenital, 3 | . | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040281 - Very frequent | | | 113 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 8 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 345 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | HSPG2 CL E G H | 3339 | 5273 | OMIM:224410 | Dyssegmental dysplasia, Silverman-Handmaker type | . | | | 345 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1865 | Dyssegmental dysplasia, Silverman-Handmaker type | HP:0040283 - Occasional | | | 345 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | . | | | 98 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | HYAL1 CL E G H | 3373 | 5320 | OMIM:601492 | Mucopolysaccharidosis type IX | | | | 28 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | . | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | . | | | 25 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | IDH3A CL E G H | 3419 | 5384 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | IDH3B CL E G H | 3420 | 5385 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 30 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040282 - Frequent | | | 86 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040282 - Frequent | | | 86 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | | | | 115 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040281 - Very frequent | | | 115 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | . | | | 115 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040281 - Very frequent | | | 115 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | . | | | 115 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607016 | Scheie syndrome | . | | | 115 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | IFT140 CL E G H | 9742 | 29077 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 148 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | IFT172 CL E G H | 26160 | 30391 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | IFT172 CL E G H | 26160 | 30391 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | IFT27 CL E G H | 11020 | 18626 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | . | | | 4 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | . | | | 4 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | IFT57 CL E G H | 55081 | 17367 | OMIM:617927 | Orofaciodigital syndrome XVIII | . | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | IFT57 CL E G H | 55081 | 17367 | OMIM:617927 | Orofaciodigital syndrome XVIII | . | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | IFT74 CL E G H | 80173 | 21424 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | IFT74 CL E G H | 80173 | 21424 | OMIM:619582 | JOUBERT SYNDROME 40; JBTS40 | | | | 3 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 65 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | IFT81 CL E G H | 28981 | 14313 | OMIM:617895 | Short-Rib thoracic dysplasia 19 with or without polydactyly | . | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | IFT88 CL E G H | 8100 | 20606 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | IGBP1 CL E G H | 3476 | 5461 | ORPHA:52055 | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | IGF1R CL E G H | 3480 | 5465 | ORPHA:73273 | Growth delay due to insulin-like growth factor I resistance | HP:0040282 - Frequent | | | 268 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | . | | | 268 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | IL11RA CL E G H | 3590 | 5967 | OMIM:614188 | Craniosynostosis and dental anomalies | | | | 8 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | IL6ST CL E G H | 3572 | 6021 | OMIM:619750 | IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94 | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 52 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 4 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 120 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 111 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 111 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 111 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:2746 | Opsismodysplasia | HP:0040281 - Very frequent | | | 18 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | INPPL1 CL E G H | 3636 | 6080 | OMIM:258480 | OPSISMODYSPLASIA | . | | | 18 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040283 - Occasional | | | 229 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | INTS1 CL E G H | 26173 | 24555 | OMIM:618571 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF | | | | | | |
HP:0000422 | HP:0005285 | Absent nasal bridge | 1 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | . | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | . | | | 4 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 130 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | . | | | 283 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | KAT6A CL E G H | 7994 | 13013 | ORPHA:457193 | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | KAT6B CL E G H | 23522 | 17582 | ORPHA:85201 | Genitopatellar syndrome | HP:0040281 - Very frequent | | | 141 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | KAT6B CL E G H | 23522 | 17582 | OMIM:606170 | Genitopatellar syndrome | . | | | 141 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KAT6B CL E G H | 23522 | 17582 | OMIM:603736 | Ohdo syndrome, sbbys variant | . | | | 141 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KAT8 CL E G H | 84148 | 17933 | OMIM:618974 | LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS | | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | KAT8 CL E G H | 84148 | 17933 | OMIM:618974 | LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KATNB1 CL E G H | 10300 | 6217 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040282 - Frequent | | | 10 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | KATNIP CL E G H | 23247 | 29068 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 145 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KCNE5 CL E G H | 23630 | 6241 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | . | | | 13 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | . | | | 13 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 193 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 128 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KCNJ8 CL E G H | 3764 | 6269 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040282 - Frequent | | | 23 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | HP:0040282 - Frequent | | | 4 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | . | | | 11 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | | | | 3 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | . | | | 2 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | KDM5C CL E G H | 8242 | 11114 | ORPHA:85279 | Syndromic X-linked intellectual disability due to JARID1C mutation | HP:0040283 - Occasional | | | 81 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | . | | | 53 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | . | | | 9 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | . | | | 9 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | . | | | 24 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 4 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:617127 | Orofaciodigital syndrome XV | . | | | 4 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619479 | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21 | | | | 4 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619479 | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21 | | | | 4 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KIAA1549 CL E G H | 57670 | 22219 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | . | | | 46 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | HP:0040283 - Occasional | | | 46 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KIF14 CL E G H | 9928 | 19181 | OMIM:616258 | Meckel syndrome 12 | HP:0040283 - Occasional | | | 9 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:607131 | Al-Gazali-Bakalinova syndrome | | | | 167 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:607131 | Al-Gazali-Bakalinova syndrome | | | | 167 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KIF7 CL E G H | 374654 | 30497 | ORPHA:166024 | Multiple epiphyseal dysplasia, Al-Gazali type | HP:0040281 - Very frequent | | | 167 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 167 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KIFBP CL E G H | 26128 | 23419 | ORPHA:66629 | Goldberg-Shprintzen megacolon syndrome | HP:0040283 - Occasional | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | . | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | . | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 3 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 14 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KIT CL E G H | 3815 | 6342 | ORPHA:2884 | Piebaldism | HP:0040283 - Occasional | | | 327 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KIZ CL E G H | 55857 | 15865 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KLHL7 CL E G H | 55975 | 15646 | OMIM:617055 | Crisponi/cold-Induced sweating syndrome 3 | . | | | 42 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KLHL7 CL E G H | 55975 | 15646 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 42 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KMT2A CL E G H | 4297 | 7132 | OMIM:605130 | Wiedemann-Steiner syndrome | . | | | 91 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | . | | | 660 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KNSTRN CL E G H | 90417 | 30767 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KNSTRN CL E G H | 90417 | 30767 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0000422 | HP:0005281 | Hypoplastic nasal bridge | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:609942 | Noonan syndrome 3 | . | | | 196 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | KREMEN1 CL E G H | 83999 | 17550 | OMIM:617392 | Ectodermal dysplasia 13, Hair/tooth type | HP:0040283 - Occasional | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KREMEN1 CL E G H | 83999 | 17550 | OMIM:617392 | Ectodermal dysplasia 13, Hair/tooth type | HP:0040283 - Occasional | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | KYNU CL E G H | 8942 | 6469 | OMIM:617661 | Vertebral, cardiac, renal, and limb defects syndrome 2 | . | | | 5 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | LARP7 CL E G H | 51574 | 24912 | OMIM:615071 | Alazami syndrome | . | | | 16 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | LARP7 CL E G H | 51574 | 24912 | OMIM:615071 | Alazami syndrome | . | | | 16 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | LFNG CL E G H | 3955 | 6560 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 13 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | 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:0000422 | HP:0005280 | Depressed nasal bridge | 1 | 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:0000422 | HP:0005280 | Depressed nasal bridge | 1 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | LIG4 CL E G H | 3981 | 6601 | ORPHA:99812 | LIG4 syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | LINS1 CL E G H | 55180 | 30922 | OMIM:614340 | Mental retardation, autosomal recessive 27 | . | | | 25 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:2229 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | LMNB1 CL E G H | 4001 | 6637 | OMIM:619179 | MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26 | | | | 44 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | LMNB1 CL E G H | 4001 | 6637 | OMIM:619179 | MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26 | | | | 44 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | . | | | 8 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | LONP1 CL E G H | 9361 | 9479 | ORPHA:1458 | CODAS syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | LRAT CL E G H | 9227 | 6685 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 62 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | HP:0040281 - Very frequent | | | 289 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | LRPPRC CL E G H | 10128 | 15714 | OMIM:220111 | Leigh syndrome, french Canadian type | . | | | 191 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | LTBP1 CL E G H | 4052 | 6714 | OMIM:619451 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | LTBP3 CL E G H | 4054 | 6716 | OMIM:617809 | Geleophysic dysplasia 3 | . | | | 12 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | LTBP3 CL E G H | 4054 | 6716 | OMIM:617809 | Geleophysic dysplasia 3 | . | | | 12 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | LTBP4 CL E G H | 8425 | 6717 | OMIM:613177 | Cutis laxa, autosomal recessive, type IC | . | | | 92 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | LZTFL1 CL E G H | 54585 | 6741 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MACF1 CL E G H | 23499 | 13664 | OMIM:618325 | Lissencephaly 9 with complex brainstem malformation | | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MAF CL E G H | 4094 | 6776 | OMIM:601088 | Ayme-Gripp syndrome | | | | 21 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MAF CL E G H | 4094 | 6776 | OMIM:601088 | Ayme-Gripp syndrome | . | | | 21 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MAFB CL E G H | 9935 | 6408 | ORPHA:2774 | Multicentric carpo-tarsal osteolysis with or without nephropathy | HP:0040283 - Occasional | | | 63 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MAK CL E G H | 4117 | 6816 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 53 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MAN1B1 CL E G H | 11253 | 6823 | OMIM:614202 | Rafiq syndrome | | | | 93 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:157800 | Cardiospondylocarpofacial syndrome | . | | | 11 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040281 - Very frequent | | | 11 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | . | | | 11 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | . | | | 11 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | . | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | | | | 4 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | . | | | 4 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MARS2 CL E G H | 92935 | 25133 | OMIM:616430 | Combined oxidative phosphorylation deficiency 25 | . | | | 25 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MARS2 CL E G H | 92935 | 25133 | OMIM:616430 | Combined oxidative phosphorylation deficiency 25 | . | | | 25 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MDH1 CL E G H | 4190 | 6970 | OMIM:618959 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88 | | | | | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | MDM2 CL E G H | 4193 | 6973 | OMIM:618681 | LESSEL-KUBISCH SYNDROME; LSKB | | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | . | | | 950 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:309520 | Lujan-Fryns syndrome | . | | | 228 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | MED12 CL E G H | 9968 | 11957 | ORPHA:776 | Lujan-Fryns syndrome | HP:0040282 - Frequent | | | 228 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:309520 | Lujan-Fryns syndrome | . | | | 228 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | . | | | 228 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | . | | | 228 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MED13 CL E G H | 9969 | 22474 | OMIM:618009 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61 | | | | 4 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | MED13 CL E G H | 9969 | 22474 | OMIM:618009 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61 | | | | 4 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | HP:0040282 - Frequent | | | 74 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | HP:0040283 - Occasional | | | 74 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | . | | | 74 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MEF2C CL E G H | 4208 | 6996 | OMIM:613443 | Mental retardation, autosomal dominant 20 | . | | | 132 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | 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:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | . | | | 13 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | . | | | 13 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | MEIS2 CL E G H | 4212 | 7001 | ORPHA:261190 | 15q14 microdeletion syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MERTK CL E G H | 10461 | 7027 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 75 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MESP2 CL E G H | 145873 | 29659 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 45 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | METTL23 CL E G H | 124512 | 26988 | OMIM:615942 | Mental retardation, autosomal recessive 44 | HP:0040283 - Occasional | | | 13 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | . | | | 39 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MGP CL E G H | 4256 | 7060 | ORPHA:85202 | Keutel syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MGP CL E G H | 4256 | 7060 | OMIM:245150 | Keutel syndrome | . | | | 33 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | MIA3 CL E G H | 375056 | 24008 | OMIM:619269 | ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2 | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | . | | | 57 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040282 - Frequent | | | 3 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040283 - Occasional | | | 3 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | . | | | 91 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MITF CL E G H | 4286 | 7105 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | MITF CL E G H | 4286 | 7105 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | MKKS CL E G H | 8195 | 7108 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 69 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 127 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 127 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MKS1 CL E G H | 54903 | 7121 | OMIM:617121 | JOUBERT SYNDROME 28; JBTS28 | | | | 127 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 127 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | . | | | 64 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MN1 CL E G H | 4330 | 7180 | OMIM:618774 | CEBALID SYNDROME; CEBALID | | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MRAS CL E G H | 22808 | 7227 | OMIM:618499 | NOONAN SYNDROME 11; NS11 | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MRPS14 CL E G H | 63931 | 14049 | OMIM:618378 | Combined oxidative phosphorylation deficiency 38 | . | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563612 | Isolated exencephaly | HP:0040283 - Occasional | | | 183 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MTOR CL E G H | 2475 | 3942 | ORPHA:457485 | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | HP:0040284 - Very rare | | | 68 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | . | | | 68 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040282 - Frequent | | | 72 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | . | | | 35 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | . | | | 166 | | |
HP:0000422 | HP:0033142 | Long nasal bridge | 1 | MYH3 CL E G H | 4621 | 7573 | OMIM:178110 | Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A | . | | | 166 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | . | | | 5 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MYRF CL E G H | 745 | 1181 | OMIM:618280 | Cardiac-Urogenital syndrome | | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | MYT1L CL E G H | 23040 | 7623 | OMIM:616521 | Mental retardation, autosomal dominant 39 | | | | 13 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | . | | | 23 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | . | | | 23 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NAGA CL E G H | 4668 | 7631 | ORPHA:79280 | Alpha-N-acetylgalactosaminidase deficiency type 2 | HP:0040282 - Frequent | | | 47 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NAGA CL E G H | 4668 | 7631 | OMIM:609242 | Kanzaki disease | . | | | 47 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | . | | | 48 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NALCN CL E G H | 259232 | 19082 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NALCN CL E G H | 259232 | 19082 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NBN CL E G H | 4683 | 7652 | ORPHA:647 | Nijmegen breakage syndrome | HP:0040281 - Very frequent | | | 706 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | NBN CL E G H | 4683 | 7652 | ORPHA:647 | Nijmegen breakage syndrome | HP:0040281 - Very frequent | | | 706 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NDE1 CL E G H | 54820 | 17619 | OMIM:614019 | Lissencephaly 4 | | | | 96 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NDE1 CL E G H | 54820 | 17619 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040282 - Frequent | | | 96 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | . | | | 96 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040281 - Very frequent | | | 39 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040282 - Frequent | | | 101 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NEK2 CL E G H | 4751 | 7745 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 5 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NEU1 CL E G H | 4758 | 7758 | ORPHA:812 | Sialidosis type 1 | HP:0040281 - Very frequent | | | 43 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 52 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040284 - Very rare | | | 1952 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | . | | | 1952 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | . | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | . | | | | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | NFIB CL E G H | 4781 | 7785 | OMIM:618286 | Macrocephaly, acquired, with impaired intellectual development | . | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NFIX CL E G H | 4784 | 7788 | ORPHA:420179 | Malan overgrowth syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | . | | | 40 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | NHS CL E G H | 4810 | 7820 | ORPHA:627 | Nance-Horan syndrome | HP:0040281 - Very frequent | | | 88 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | NHS CL E G H | 4810 | 7820 | OMIM:302350 | Nance-Horan syndrome | . | | | 88 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 494 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0000422 | HP:0003194 | Short nasal bridge | 1 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:130720 | Lateral meningocele syndrome | . | | | 144 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 85 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040283 - Occasional | | | 85 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NPR2 CL E G H | 4882 | 7944 | ORPHA:40 | Acromesomelic dysplasia, Maroteaux type | HP:0040282 - Frequent | | | 53 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NR2E3 CL E G H | 10002 | 7974 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 58 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | NR2F1 CL E G H | 7025 | 7975 | OMIM:615722 | Bosch-Boonstra-Schaaf optic atrophy syndrome | | | | 37 | | |
HP:0000422 | HP:0003194 | Short nasal bridge | 1 | NR2F1 CL E G H | 7025 | 7975 | ORPHA:401777 | Optic atrophy-intellectual disability syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | NR2F1 CL E G H | 7025 | 7975 | ORPHA:401777 | Optic atrophy-intellectual disability syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | . | | | 102 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | . | | | 102 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NRL CL E G H | 4901 | 8002 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 30 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 118 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | NSDHL CL E G H | 50814 | 13398 | OMIM:300831 | Ck syndrome | . | | | 34 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | NSDHL CL E G H | 50814 | 13398 | ORPHA:251383 | CK syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 6 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NSRP1 CL E G H | 84081 | 25305 | OMIM:620001 | | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | HP:0040282 - Frequent | | | 84 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | HP:0040283 - Occasional | | | 84 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | HP:0040283 - Occasional | | | 84 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NUDT2 CL E G H | 318 | 8049 | OMIM:619844 | | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | NXN CL E G H | 64359 | 18008 | OMIM:618529 | Robinow syndrome, autosomal recessive 2 | . | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | OBSL1 CL E G H | 23363 | 29092 | OMIM:612921 | 3-M syndrome 2 | | | | 143 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:300804 | Joubert syndrome 10 | | | | 201 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | . | | | 201 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040281 - Very frequent | | | 201 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 201 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 201 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | . | | | 39 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | OTUD6B CL E G H | 51633 | 24281 | ORPHA:505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | | | | 4 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | . | | | 4 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | . | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PACS2 CL E G H | 23241 | 23794 | OMIM:618067 | Epileptic encephalopathy, early infantile, 66 | . | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | HP:0040283 - Occasional | | | 641 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PAICS CL E G H | 10606 | 8587 | OMIM:619859 | | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PAK2 CL E G H | 5062 | 8591 | ORPHA:1571 | Knobloch syndrome | HP:0040283 - Occasional | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | PAK3 CL E G H | 5063 | 8592 | OMIM:300558 | MENTAL RETARDATION, X-LINKED 30; MRX30 | | | | 27 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PAM16 CL E G H | 51025 | 29679 | OMIM:613320 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | . | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PARS2 CL E G H | 25973 | 30563 | OMIM:618437 | Epileptic encephalopathy, early infantile, 75 | | | | 14 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PAX1 CL E G H | 5075 | 8615 | ORPHA:2792 | Otofaciocervical syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PAX1 CL E G H | 5075 | 8615 | OMIM:615560 | Otofaciocervical syndrome 2 | | | | 3 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PAX3 CL E G H | 5077 | 8617 | ORPHA:1529 | Craniofacial-deafness-hand syndrome | HP:0040281 - Very frequent | | | 59 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | HP:0040282 - Frequent | | | 59 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | PAX3 CL E G H | 5077 | 8617 | ORPHA:896 | Waardenburg syndrome type 3 | HP:0040281 - Very frequent | | | 59 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | . | | | 59 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | . | | | 59 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | . | | | 59 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | . | | | 3 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PCARE CL E G H | 388939 | 34383 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | PCDHGC4 CL E G H | 56098 | 8717 | OMIM:619880 | | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PCLO CL E G H | 27445 | 13406 | OMIM:608027 | Pontocerebellar hypoplasia, type 3 | . | | | 6 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PCNT CL E G H | 5116 | 16068 | ORPHA:2637 | Microcephalic osteodysplastic primordial dwarfism type II | HP:0040282 - Frequent | | | 531 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | . | | | 531 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PDE4D CL E G H | 5144 | 8783 | ORPHA:950 | Acrodysostosis | HP:0040281 - Very frequent | | | 113 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PDE4D CL E G H | 5144 | 8783 | ORPHA:950 | Acrodysostosis | HP:0040281 - Very frequent | | | 113 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PDE4D CL E G H | 5144 | 8783 | OMIM:614613 | Acrodysostosis 2 with or without hormone resistance | . | | | 113 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 113 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | HP:0040281 - Very frequent | | | 113 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PDE6A CL E G H | 5145 | 8785 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 116 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PDE6B CL E G H | 5158 | 8786 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 126 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PDE6G CL E G H | 5148 | 8789 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 18 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PDGFRB CL E G H | 5159 | 8804 | OMIM:616592 | Kosaki overgrowth syndrome | . | | | 28 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | PDGFRB CL E G H | 5159 | 8804 | OMIM:601812 | Premature aging syndrome, Penttinen type | . | | | 28 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PDHA1 CL E G H | 5160 | 8806 | OMIM:312170 | Pyruvate dehydrogenase e1-alpha deficiency | . | | | 88 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | HP:0040281 - Very frequent | | | 66 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX1 CL E G H | 5189 | 8850 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 169 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX1 CL E G H | 5189 | 8850 | OMIM:601539 | Peroxisome biogenesis disorder 1B | . | | | 169 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX10 CL E G H | 5192 | 8851 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 75 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX10 CL E G H | 5192 | 8851 | OMIM:614870 | Peroxisome biogenesis disorder 6A (Zellweger) | . | | | 75 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 75 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 75 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX11B CL E G H | 8799 | 8853 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 4 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX12 CL E G H | 5193 | 8854 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 65 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX12 CL E G H | 5193 | 8854 | OMIM:614859 | Peroxisome biogenesis disorder 3A (Zellweger) | . | | | 65 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX13 CL E G H | 5194 | 8855 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 66 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PEX13 CL E G H | 5194 | 8855 | OMIM:614883 | Peroxisome biogenesis disorder 11A (Zellweger) | . | | | 66 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 66 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 66 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX14 CL E G H | 5195 | 8856 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 46 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 46 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 46 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX16 CL E G H | 9409 | 8857 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 59 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 59 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 59 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX19 CL E G H | 5824 | 9713 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 62 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | . | | | 62 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 62 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 62 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX2 CL E G H | 5828 | 9717 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 82 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX26 CL E G H | 55670 | 22965 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 106 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX3 CL E G H | 8504 | 8858 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 47 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 47 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 47 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX5 CL E G H | 5830 | 9719 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 99 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX5 CL E G H | 5830 | 9719 | OMIM:202370 | Peroxisome biogenesis disorder 2B | . | | | 99 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 99 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 99 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 98 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PEX6 CL E G H | 5190 | 8859 | OMIM:614862 | Peroxisome biogenesis disorder 4A (Zellweger) | . | | | 98 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PEX7 CL E G H | 5191 | 8860 | OMIM:215100 | Rhizomelic chondrodysplasia punctata, type 1 | . | | | 72 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PGAP2 CL E G H | 27315 | 17893 | OMIM:614207 | Hyperphosphatasia with mental retardation syndrome 3 | . | | | 8 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PGAP3 CL E G H | 93210 | 23719 | OMIM:615716 | Hyperphosphatasia with mental retardation syndrome 4 | . | | | 20 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 20 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 20 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | PHF21A CL E G H | 51317 | 24156 | ORPHA:52022 | Potocki-Shaffer syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | PIBF1 CL E G H | 10464 | 23352 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | . | | | 77 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | . | | | 46 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PIGG CL E G H | 54872 | 25985 | ORPHA:488635 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PIGN CL E G H | 23556 | 8967 | OMIM:614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | . | | | 37 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PIGO CL E G H | 84720 | 23215 | OMIM:614749 | Hyperphosphatasia with mental retardation syndrome 2 | | | | 84 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 84 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 84 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 3 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | . | | | 12 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PIGV CL E G H | 55650 | 26031 | OMIM:239300 | Hyperphosphatasia with mental retardation | | | | 57 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PIGW CL E G H | 284098 | 23213 | OMIM:616025 | Glycosylphosphatidylinositol biosynthesis defect 11 | . | | | 6 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | HP:0040283 - Occasional | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | HP:0040283 - Occasional | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PIK3C2A CL E G H | 5286 | 8971 | OMIM:618440 | Oculoskeletodental syndrome | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:60040 | Megalencephaly-capillary malformation-polymicrogyria syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PIK3CA CL E G H | 5290 | 8975 | OMIM:602501 | Megalencephaly-Capillary malformation-polymicrogyria syndrome | . | | | 162 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 9 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 9 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:269880 | Short syndrome | . | | | 43 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PIK3R2 CL E G H | 5296 | 8980 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | 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:0000422 | HP:0000431 | Wide nasal bridge | 1 | PITX2 CL E G H | 5308 | 9005 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040283 - Occasional | | | 51 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PITX2 CL E G H | 5308 | 9005 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040283 - Occasional | | | 51 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | . | | | 51 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PKDCC CL E G H | 91461 | 25123 | OMIM:618821 | RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PLCB3 CL E G H | 5331 | 9056 | OMIM:618961 | SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PLK4 CL E G H | 10733 | 11397 | ORPHA:2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | . | | | 105 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PLXNA1 CL E G H | 5361 | 9099 | OMIM:619955 | | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040283 - Occasional | | | 150 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 244 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040284 - Very rare | | | 35 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | . | | | 35 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | POLE CL E G H | 5426 | 9177 | ORPHA:85173 | IMAGe syndrome | HP:0040281 - Very frequent | | | 1129 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | POLR1A CL E G H | 25885 | 17264 | ORPHA:1200 | Burn-McKeown syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | POLR1A CL E G H | 25885 | 17264 | ORPHA:1200 | Burn-McKeown syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | HP:0040282 - Frequent | | | 38 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | HP:0040282 - Frequent | | | 31 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0000422 | HP:0003194 | Short nasal bridge | 1 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | | | | 180 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 180 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | . | | | 76 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | POR CL E G H | 5447 | 9208 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | . | | | 76 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040283 - Occasional | | | 20 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | 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:0000422 | HP:0005280 | Depressed nasal bridge | 1 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | . | | | 36 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PPM1B CL E G H | 5495 | 9276 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93946 | Hamel cerebro-palato-cardiac syndrome | HP:0040281 - Very frequent | | | 28 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | . | | | 28 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PRCD CL E G H | 768206 | 32528 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 39 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 148 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 148 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PREPL CL E G H | 9581 | 30228 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:950 | Acrodysostosis | HP:0040281 - Very frequent | | | 134 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:950 | Acrodysostosis | HP:0040281 - Very frequent | | | 134 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 134 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | PRKD1 CL E G H | 5587 | 9407 | OMIM:617364 | Congenital heart defects and ectodermal dysplasia | . | | | 7 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PRKD1 CL E G H | 5587 | 9407 | OMIM:617364 | Congenital heart defects and ectodermal dysplasia | . | | | 7 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PRKDC CL E G H | 5591 | 9413 | OMIM:615966 | Immunodeficiency 26 with or without neurologic abnormalities | HP:0040283 - Occasional | | | 42 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PRMT7 CL E G H | 54496 | 25557 | OMIM:617157 | Short stature, brachydactyly, intellectual developmental disability, and seizures | . | | | 6 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PRMT7 CL E G H | 54496 | 25557 | OMIM:617157 | Short stature, brachydactyly, intellectual developmental disability, and seizures | . | | | 6 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 9 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 34 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PROM1 CL E G H | 8842 | 9454 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 110 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | 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:0000422 | HP:0000431 | Wide nasal bridge | 1 | PRPF3 CL E G H | 9129 | 17348 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 28 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PRPF31 CL E G H | 26121 | 15446 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 70 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PRPF4 CL E G H | 9128 | 17349 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PRPF6 CL E G H | 24148 | 15860 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 51 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PRPF8 CL E G H | 10594 | 17340 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 94 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 159 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PRPS1 CL E G H | 5631 | 9462 | OMIM:300661 | Phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 27 | | |
HP:0000422 | HP:0033142 | Long nasal bridge | 1 | PSMC1 CL E G H | 5700 | 9547 | OMIM:620071 | | | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | . | | | 665 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:377 | Gorlin syndrome | HP:0040282 - Frequent | | | 665 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | . | | | 40 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PTCH2 CL E G H | 8643 | 9586 | ORPHA:377 | Gorlin syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040283 - Occasional | | | 948 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PTEN CL E G H | 5728 | 9588 | OMIM:605309 | Macrocephaly/autism syndrome | . | | | 948 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | PTH1R CL E G H | 5745 | 9608 | ORPHA:50945 | Blomstrand lethal chondrodysplasia | HP:0040281 - Very frequent | | | 58 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040282 - Frequent | | | 291 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PUF60 CL E G H | 22827 | 17042 | OMIM:615583 | Verheij syndrome | . | | | 19 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PUM1 CL E G H | 9698 | 14957 | OMIM:617931 | Spinocerebellar ataxia 47 | . | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PURA CL E G H | 5813 | 9701 | OMIM:616158 | Mental retardation, autosomal dominant 31 | | | | 53 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | PURA CL E G H | 5813 | 9701 | ORPHA:438216 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | HP:0040283 - Occasional | | | 53 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | 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:0000422 | HP:0000431 | Wide nasal bridge | 1 | PUS7 CL E G H | 54517 | 26033 | OMIM:618342 | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | . | | | | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RAB18 CL E G H | 22931 | 14244 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | HP:0040282 - Frequent | | | 90 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:600118 | Warburg micro syndrome 1 | | | | 90 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | . | | | 135 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | . | | | 135 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | . | | | 3 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | RAC1 CL E G H | 5879 | 9801 | ORPHA:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | HP:0040283 - Occasional | | | 3 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RAC3 CL E G H | 5881 | 9803 | OMIM:618577 | NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF | | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | . | | | 25 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RAF1 CL E G H | 5894 | 9829 | OMIM:611554 | LEOPARD SYNDROME 2; LPRD2 | | | | 212 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RAF1 CL E G H | 5894 | 9829 | OMIM:611553 | Noonan syndrome 5 | | | | 212 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040282 - Frequent | | | 212 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RALA CL E G H | 5898 | 9839 | OMIM:619311 | HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RALGAPA1 CL E G H | 253959 | 17770 | OMIM:618797 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT | | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040282 - Frequent | | | 73 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RAPSN CL E G H | 5913 | 9863 | OMIM:618388 | FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2 | | | | 73 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RARB CL E G H | 5915 | 9865 | OMIM:615524 | Microphthalmia, syndromic 12 | . | | | 9 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | . | | | 93 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | RB1 CL E G H | 5925 | 9884 | ORPHA:1587 | Monosomy 13q14 | HP:0040281 - Very frequent | | | 365 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RB1 CL E G H | 5925 | 9884 | ORPHA:1587 | Monosomy 13q14 | HP:0040281 - Very frequent | | | 365 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RBL2 CL E G H | 5934 | 9894 | OMIM:619690 | BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | . | | | 16 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RBP3 CL E G H | 5949 | 9921 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 108 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RDH12 CL E G H | 145226 | 19977 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 45 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:1225 | Baller-Gerold syndrome | HP:0040283 - Occasional | | | 445 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:1225 | Baller-Gerold syndrome | HP:0040283 - Occasional | | | 445 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | . | | | 445 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | REEP6 CL E G H | 92840 | 30078 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 5 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | RELN CL E G H | 5649 | 9957 | OMIM:257320 | Lissencephaly 2 | . | | | 334 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RELN CL E G H | 5649 | 9957 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040282 - Frequent | | | 334 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RGR CL E G H | 5995 | 9990 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 28 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RHO CL E G H | 6010 | 10012 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 107 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RHOA CL E G H | 387 | 667 | OMIM:618727 | ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB | | | | 8 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RHOBTB2 CL E G H | 23221 | 18756 | OMIM:618004 | Epileptic encephalopathy, early infantile, 64 | . | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | | | | 43 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1401 | CHAND syndrome | HP:0040282 - Frequent | | | 69 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RIPPLY2 CL E G H | 134701 | 21390 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 3 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 47 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | . | | | 7 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | . | | | 7 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040283 - Occasional | | | 37 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040282 - Frequent | | | 37 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | RNF13 CL E G H | 11342 | 10057 | OMIM:618379 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73 | | | | | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | RNF13 CL E G H | 11342 | 10057 | ORPHA:544503 | RNF13-related severe early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ROM1 CL E G H | 6094 | 10254 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 38 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 120 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040281 - Very frequent | | | 120 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | . | | | 120 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RP1 CL E G H | 6101 | 10263 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 111 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RP1L1 CL E G H | 94137 | 15946 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 284 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RP2 CL E G H | 6102 | 10274 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 45 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RP9 CL E G H | 6100 | 10288 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 14 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPE65 CL E G H | 6121 | 10294 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 129 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPGR CL E G H | 6103 | 10295 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 200 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 167 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040283 - Occasional | | | 167 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 11 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 11 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 40 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 40 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 26 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 26 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 5 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 5 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 42 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 42 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPS23 CL E G H | 6228 | 10410 | OMIM:617412 | BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD | | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RPS7 CL E G H | 6201 | 10440 | OMIM:612563 | Diamond-Blackfan anemia 8 | . | | | 20 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | 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:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | . | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RSRC1 CL E G H | 51319 | 24152 | OMIM:618402 | Intellectual developmental disorder, autosomal recessive 70 | . | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040282 - Frequent | | | 90 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | . | | | 90 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | | | | 90 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:324581 | Benign Samaritan congenital myopathy | HP:0040283 - Occasional | | | 1200 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SAG CL E G H | 6295 | 10521 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 32 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | . | | | 34 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040282 - Frequent | | | 34 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SCAPER CL E G H | 49855 | 13081 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SCAPER CL E G H | 49855 | 13081 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | . | | | 11 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 1053 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 126 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 427 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | | | | 40 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SCUBE3 CL E G H | 222663 | 13655 | OMIM:619184 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2 | | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 61 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SEC23A CL E G H | 10484 | 10701 | ORPHA:50814 | Craniolenticulosutural dysplasia | HP:0040281 - Very frequent | | | 2 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SEC23A CL E G H | 10484 | 10701 | OMIM:607812 | Craniolenticulosutural dysplasia | | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SEC23A CL E G H | 10484 | 10701 | OMIM:607812 | Craniolenticulosutural dysplasia | . | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SEMA5A CL E G H | 9037 | 10736 | ORPHA:281 | Monosomy 5p | HP:0040281 - Very frequent | | | 6 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SEPTIN9 CL E G H | 10801 | 7323 | OMIM:162100 | Amyotrophy, hereditary neuralgic | . | | | | | |
HP:0000422 | HP:0033142 | Long nasal bridge | 1 | SEPTIN9 CL E G H | 10801 | 7323 | OMIM:162100 | Amyotrophy, hereditary neuralgic | . | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SET CL E G H | 6418 | 10760 | OMIM:618106 | Mental retardation, autosomal dominant 58 | . | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SETD5 CL E G H | 55209 | 25566 | ORPHA:404440 | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | HP:0040283 - Occasional | | | 43 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SETD5 CL E G H | 55209 | 25566 | ORPHA:404440 | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | HP:0040282 - Frequent | | | 43 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SETD5 CL E G H | 55209 | 25566 | OMIM:615761 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 | | | | 43 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SETD5 CL E G H | 55209 | 25566 | OMIM:615761 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 | | | | 43 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | . | | | 49 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:1788 | Acrofacial dysostosis, RodrÃguez type | HP:0040281 - Very frequent | | | 49 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261222 | Distal 16p11.2 microdeletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | HP:0040281 - Very frequent | | | 134 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | HP:0040281 - Very frequent | | | 134 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | HP:0040282 - Frequent | | | 53 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SHH CL E G H | 6469 | 10848 | OMIM:142945 | Holoprosencephaly 3 | . | | | 67 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SHOX CL E G H | 6473 | 10853 | ORPHA:240 | Léri-Weill dyschondrosteosis | HP:0040281 - Very frequent | | | 66 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SHOX CL E G H | 6473 | 10853 | ORPHA:240 | Léri-Weill dyschondrosteosis | HP:0040281 - Very frequent | | | 66 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SHROOM4 CL E G H | 57477 | 29215 | ORPHA:85288 | X-linked intellectual disability, Stocco Dos Santos type | HP:0040282 - Frequent | | | 42 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 11 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:171829 | 6q16 microdeletion syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | . | | | 9 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | . | | | 9 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SIX2 CL E G H | 10736 | 10888 | ORPHA:488437 | SIX2-related frontonasal dysplasia | HP:0040281 - Very frequent | | | 2 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | . | | | 163 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040282 - Frequent | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 166 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | . | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:256050 | Atelosteogenesis, type II | . | | | 166 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:628 | Diastrophic dysplasia | HP:0040281 - Very frequent | | | 166 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 255 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040283 - Occasional | | | 71 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040283 - Occasional | | | 71 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | | | | 24 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SLC45A1 CL E G H | 50651 | 17939 | OMIM:617532 | Intellectual developmental disorder with neuropsychiatric features | . | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 59 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SLC6A1 CL E G H | 6529 | 11042 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 29 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SLC6A9 CL E G H | 6536 | 11056 | OMIM:617301 | Glycine encephalopathy with normal serum glycine | | | | 4 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SLC7A14 CL E G H | 57709 | 29326 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 4 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | . | | | 504 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | HP:0040282 - Frequent | | | 146 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 617 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SMARCA4 CL E G H | 6597 | 11100 | OMIM:614609 | Coffin-Siris syndrome 4 | . | | | 617 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040283 - Occasional | | | 74 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:614608 | Coffin-Siris syndrome 3 | . | | | 87 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SMARCD1 CL E G H | 6602 | 11106 | OMIM:618779 | COFFIN-SIRIS SYNDROME 11; CSS11 | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | | | | 47 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SMC1A CL E G H | 8243 | 11111 | OMIM:300590 | Cornelia de Lange syndrome 2 | . | | | 135 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 91 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | . | | | 22 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040282 - Frequent | | | 15 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | . | | | 15 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | HP:0040283 - Occasional | | | 19 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:2884 | Piebaldism | HP:0040283 - Occasional | | | 19 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SNAP29 CL E G H | 9342 | 11133 | ORPHA:66631 | CEDNIK syndrome | HP:0040281 - Very frequent | | | 94 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SNAP29 CL E G H | 9342 | 11133 | OMIM:609528 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | | | | 94 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SNAP29 CL E G H | 9342 | 11133 | OMIM:609528 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | | | | 94 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SNRNP200 CL E G H | 23020 | 30859 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 83 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | . | | | 12 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SOST CL E G H | 50964 | 13771 | ORPHA:1513 | Craniodiaphyseal dysplasia | HP:0040281 - Very frequent | | | 26 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SOST CL E G H | 50964 | 13771 | ORPHA:1513 | Craniodiaphyseal dysplasia | HP:0040281 - Very frequent | | | 26 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SOST CL E G H | 50964 | 13771 | OMIM:122860 | Craniodiaphyseal dysplasia, autosomal dominant | . | | | 26 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SOST CL E G H | 50964 | 13771 | OMIM:122860 | Craniodiaphyseal dysplasia, autosomal dominant | . | | | 26 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SOST CL E G H | 50964 | 13771 | OMIM:269500 | Sclerosteosis 1 | . | | | 26 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SOST CL E G H | 50964 | 13771 | OMIM:269500 | Sclerosteosis 1 | . | | | 26 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | HP:0040282 - Frequent | | | 61 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | HP:0040282 - Frequent | | | 61 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SOX11 CL E G H | 6664 | 11191 | OMIM:615866 | Mental retardation, autosomal dominant 27 | . | | | 14 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | . | | | 7 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | . | | | 7 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SOX5 CL E G H | 6660 | 11201 | OMIM:616803 | Lamb-Shaffer syndrome | . | | | 11 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SOX5 CL E G H | 6660 | 11201 | OMIM:616803 | Lamb-Shaffer syndrome | . | | | 11 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | HP:0040283 - Occasional | | | 109 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SP7 CL E G H | 121340 | 17321 | OMIM:613849 | Osteogenesis imperfecta, type XII | . | | | 34 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | 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:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SPATA5L1 CL E G H | 79029 | 28762 | OMIM:619616 | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SPECC1L CL E G H | 23384 | 29022 | OMIM:145420 | Hypertelorism, Teebi type | . | | | 6 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SPECC1L CL E G H | 23384 | 29022 | OMIM:145420 | Hypertelorism, Teebi type | . | | | 6 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SPOP CL E G H | 8405 | 11254 | OMIM:618828 | NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1 | | | | 16 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SPOP CL E G H | 8405 | 11254 | OMIM:618828 | NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1 | | | | 16 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SPRTN CL E G H | 83932 | 25356 | OMIM:616200 | Ruijs-Aalfs syndrome | . | | | 3 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 5 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SRCAP CL E G H | 10847 | 16974 | OMIM:619595 | DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA | | | | 138 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612379 | Congenital disorder of glycosylation, type IQ | . | | | 80 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612713 | Kahrizi syndrome | . | | | 80 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | STAG1 CL E G H | 10274 | 11354 | OMIM:617635 | Mental retardation, autosomal dominant 47 | . | | | 9 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | STAG1 CL E G H | 10274 | 11354 | ORPHA:502434 | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | STAG2 CL E G H | 10735 | 11355 | OMIM:301022 | Neurodevelopmental disorder, X-linked, with craniofacial abnormalities | . | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | STAG2 CL E G H | 10735 | 11355 | OMIM:301022 | Neurodevelopmental disorder, X-linked, with craniofacial abnormalities | . | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | . | | | 71 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | STRADA CL E G H | 92335 | 30172 | OMIM:611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | | | | 6 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | STT3A CL E G H | 3703 | 6172 | OMIM:619714 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD | | | | 21 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040282 - Frequent | | | 86 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | . | | | 124 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:377 | Gorlin syndrome | HP:0040282 - Frequent | | | 124 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SUFU CL E G H | 51684 | 16466 | OMIM:617757 | Joubert syndrome 32 | . | | | 124 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 124 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SUMF1 CL E G H | 285362 | 20376 | ORPHA:585 | Multiple sulfatase deficiency | HP:0040282 - Frequent | | | 80 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 108 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 6 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 34 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | 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:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TAF6 CL E G H | 6878 | 11540 | OMIM:617126 | Alazami-Yuan syndrome | . | | | 5 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | . | | | 34 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TBC1D20 CL E G H | 128637 | 16133 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 15 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040281 - Very frequent | | | 271 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TBCE CL E G H | 6905 | 11582 | OMIM:241410 | Hypoparathyroidism-Retardation-Dysmorphism syndrome | . | | | 52 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TBCE CL E G H | 6905 | 11582 | ORPHA:2323 | Sanjad-Sakati syndrome | HP:0040281 - Very frequent | | | 52 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040284 - Very rare | | | 13 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 32 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 32 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | . | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TBX6 CL E G H | 6911 | 11605 | ORPHA:1797 | Autosomal dominant spondylocostal dysostosis | HP:0040282 - Frequent | | | 19 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | . | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040281 - Very frequent | | | 241 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | . | | | 241 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 31 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TENT5A CL E G H | 55603 | 18345 | OMIM:617952 | Osteogenesis imperfecta, type XVIII | . | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | HP:0040281 - Very frequent | | | 104 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 155 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TGIF1 CL E G H | 7050 | 11776 | OMIM:142946 | Holoprosencephaly 4 | . | | | 32 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TLK2 CL E G H | 11011 | 11842 | OMIM:618050 | Mental retardation, autosomal dominant 57 | . | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | . | | | 4 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 39 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 45 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 45 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TMEM218 CL E G H | 219854 | 27344 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 33 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TMEM237 CL E G H | 65062 | 14432 | OMIM:614424 | Joubert syndrome 14 | . | | | 82 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 82 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040283 - Occasional | | | 82 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 166 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | . | | | 63 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | . | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | . | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TNNI2 CL E G H | 7136 | 11946 | OMIM:601680 | Arthrogryposis, distal, type 2B | . | | | 37 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TNPO2 CL E G H | 30000 | 19998 | OMIM:619556 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD | | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TNPO2 CL E G H | 30000 | 19998 | OMIM:619556 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040282 - Frequent | | | 6 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040283 - Occasional | | | 6 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | . | | | 6 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TOGARAM1 CL E G H | 23116 | 19959 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | . | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 61 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TOPORS CL E G H | 10210 | 21653 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 61 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:978 | ADULT syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:978 | ADULT syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | . | | | 140 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | . | | | 140 | | |
HP:0000422 | HP:0033142 | Long nasal bridge | 1 | TPM2 CL E G H | 7169 | 12011 | OMIM:108120 | Arthrogryposis, distal, type 1A | | | | 54 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 54 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 92 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 158 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TRAPPC9 CL E G H | 83696 | 30832 | OMIM:613192 | Mental retardation, autosomal recessive 13 | HP:0040283 - Occasional | | | 158 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 108 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | . | | | 78 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TRIM37 CL E G H | 4591 | 7523 | ORPHA:2576 | Mulibrey nanism | HP:0040282 - Frequent | | | 78 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 1 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TRIO CL E G H | 7204 | 12303 | OMIM:618825 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63 | | | | 8 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0000422 | HP:0005281 | Hypoplastic nasal bridge | 1 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | | | | 133 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | . | | | 133 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:166272 | Odontochondrodysplasia | HP:0040283 - Occasional | | | 133 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TRIP12 CL E G H | 9320 | 12306 | OMIM:617752 | Mental retardation, autosomal dominant 49 | . | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TRMT1 CL E G H | 55621 | 25980 | OMIM:618302 | Intellectual developmental disorder, autosomal recessive 68 | . | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040283 - Occasional | | | 171 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:2635 | Metatropic dysplasia | HP:0040281 - Very frequent | | | 214 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | | | | 214 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184252 | Spondylometaphyseal dysplasia, Kozlowski type | | | | 214 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TSHB CL E G H | 7252 | 12372 | OMIM:275100 | Hypothyroidism, congenital, nongoitrous, 4 | . | | | 9 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TTC8 CL E G H | 123016 | 20087 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 41 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TTC8 CL E G H | 123016 | 20087 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 41 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TUB CL E G H | 7275 | 12406 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040282 - Frequent | | | 106 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | . | | | 14 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TUBGCP4 CL E G H | 27229 | 16691 | ORPHA:2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TUBGCP6 CL E G H | 85378 | 18127 | ORPHA:2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TULP1 CL E G H | 7287 | 12423 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 66 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TWIST1 CL E G H | 7291 | 12428 | OMIM:617746 | Sweeney-Cox syndrome | . | | | 18 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1231 | Barber-Say syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | TWIST2 CL E G H | 117581 | 20670 | OMIM:227260 | FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 | | | | 7 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1807 | Focal facial dermal dysplasia type III | HP:0040282 - Frequent | | | 7 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TXNL4A CL E G H | 10907 | 30551 | OMIM:608572 | Burn-Mckeown syndrome | . | | | 19 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | TXNL4A CL E G H | 10907 | 30551 | ORPHA:1200 | Burn-McKeown syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | TXNL4A CL E G H | 10907 | 30551 | ORPHA:1200 | Burn-McKeown syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040282 - Frequent | | | 7 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | | | | 13 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | UMPS CL E G H | 7372 | 12563 | ORPHA:30 | Hereditary orotic aciduria | HP:0040282 - Frequent | | | 135 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | . | | | 23 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040282 - Frequent | | | 23 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040282 - Frequent | | | 23 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | UPF3B CL E G H | 65109 | 20439 | ORPHA:776 | Lujan-Fryns syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | UPF3B CL E G H | 65109 | 20439 | OMIM:300676 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 | | | | 33 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | UQCC2 CL E G H | 84300 | 21237 | OMIM:615824 | Mitochondrial complex III deficiency, nuclear type 7 | . | | | 7 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | USH2A CL E G H | 7399 | 12601 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 777 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | . | | | 27 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | . | | | 27 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | 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:0000422 | HP:0005280 | Depressed nasal bridge | 1 | 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:0000422 | HP:0005280 | Depressed nasal bridge | 1 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563612 | Isolated exencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | . | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | | | | 104 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | . | | | 546 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | HP:0040281 - Very frequent | | | 546 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | | | | 20 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | 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:0000422 | HP:0000431 | Wide nasal bridge | 1 | 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:0000422 | HP:0005280 | Depressed nasal bridge | 1 | 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:0000422 | HP:0000431 | Wide nasal bridge | 1 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040283 - Occasional | | | 2 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | . | | | 83 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | WDPCP CL E G H | 51057 | 28027 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 10 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | | | | 95 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | WDR26 CL E G H | 80232 | 21208 | OMIM:617616 | Skraban-Deardorff syndrome | . | | | 8 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 136 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | WDR37 CL E G H | 22884 | 31406 | OMIM:618652 | NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | WDR4 CL E G H | 10785 | 12756 | OMIM:618346 | Microcephaly, growth deficiency, seizures, and brain malformations | . | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 98 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | . | | | 13 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:99812 | LIG4 syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | . | | | 9 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | | | | 14 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:1425 | Desbuquois syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ZBTB18 CL E G H | 10472 | 13030 | ORPHA:36367 | Distal monosomy 1q | HP:0040281 - Very frequent | | | 16 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ZBTB18 CL E G H | 10472 | 13030 | OMIM:612337 | Mental retardation, autosomal dominant 22 | . | | | 16 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ZBTB24 CL E G H | 9841 | 21143 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ZBTB24 CL E G H | 9841 | 21143 | OMIM:614069 | Immunodeficiency-Centromeric instability-facial anomalies syndrome2 | . | | | 9 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ZDHHC9 CL E G H | 51114 | 18475 | ORPHA:776 | Lujan-Fryns syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | . | | | 362 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040282 - Frequent | | | 362 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040282 - Frequent | | | 362 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ZIC2 CL E G H | 7546 | 12873 | OMIM:609637 | Holoprosencephaly 5 | | | | 34 | | |
HP:0000422 | HP:0000446 | Narrow nasal bridge | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | | | | 83 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ZNF292 CL E G H | 23036 | 18410 | OMIM:619188 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64 | | | | 3 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ZNF335 CL E G H | 63925 | 15807 | OMIM:615095 | Microcephaly 10, primary, autosomal recessive | . | | | 60 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 14 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 49 | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ZNF513 CL E G H | 130557 | 26498 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 27 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ZNF526 CL E G H | 116115 | 29415 | OMIM:619877 | | | | | 24 | | |
HP:0000422 | HP:0000426 | Prominent nasal bridge | 1 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0000422 | HP:0000431 | Wide nasal bridge | 1 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:603671 | Acromelic frontonasal dysostosis | . | | | 5 | | |
HP:0000422 | HP:0005280 | Depressed nasal bridge | 1 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:617865 | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | . | | | 5 | | |