Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | | | | 254 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ABCC9 CL E G H | 10060 | 60 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040281 - Very frequent | | | 254 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ACER3 CL E G H | 55331 | 16066 | OMIM:617762 | Leukodystrophy, progressive, early childhood-onset | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ACSL4 CL E G H | 2182 | 3571 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ADAM22 CL E G H | 53616 | 201 | OMIM:617933 | Epileptic encephalopathy, early infantile, 61 | . | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | . | | | 165 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ADNP CL E G H | 23394 | 15766 | OMIM:615873 | Helsmoortel-van der Aa syndrome | | | | 47 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | AFF2 CL E G H | 2334 | 3776 | ORPHA:100973 | FRAXE intellectual disability | HP:0040282 - Frequent | | | 59 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | AFF2 CL E G H | 2334 | 3776 | OMIM:309548 | Mental retardation, X-linked, associated with fragile site fraxe | | | | 59 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | | | | 76 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | HP:0040281 - Very frequent | | | 76 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | AIMP2 CL E G H | 7965 | 20609 | OMIM:618006 | Leukodystrophy, hypomyelinating, 17 | | | | 1 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | | | | 95 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | | | | 34 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | AMMECR1 CL E G H | 9949 | 467 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:261250 | 16q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 102 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | | | | 8 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | AP1S2 CL E G H | 8905 | 560 | OMIM:304340 | Pettigrew syndrome | . | | | 13 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | AP2M1 CL E G H | 1173 | 564 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | AP4S1 CL E G H | 11154 | 575 | OMIM:614067 | Spastic paraplegia 52, autosomal recessive | . | | | 18 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | | | | 3179 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | | | | 88 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | | | | 219 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | | | | 25 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:616455 | Zimmermann-Laband syndrome 2 | . | | | 5 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | | | | 169 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | | | | 169 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | | | | 169 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | HP:0040283 - Occasional | | | 61 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | BCAS3 CL E G H | 54828 | 14347 | OMIM:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS | | | | 2 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | BRCA1 CL E G H | 672 | 1100 | OMIM:617883 | Fanconi anemia, complementation group S | | | | 5769 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | C12ORF57 CL E G H | 113246 | 29521 | ORPHA:1777 | Temtamy syndrome | | | | 13 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CAMTA1 CL E G H | 23261 | 18806 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | | | | 34 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | | | | 317 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | . | | | 317 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CCDC8 CL E G H | 83987 | 25367 | OMIM:614205 | THREE M SYNDROME 3; 3M3 | | | | 5 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CDC6 CL E G H | 990 | 1744 | OMIM:613805 | Meier-Gorlin syndrome 5 | | | | 31 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | | | | 2 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | HP:0040282 - Frequent | | | 405 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CDKL5 CL E G H | 6792 | 11411 | OMIM:300672 | Developmental and epileptic encephalopathy 2 | | | | 405 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 50 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CDT1 CL E G H | 81620 | 24576 | OMIM:613804 | Meier-Gorlin syndrome 4 | | | | 50 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CHD2 CL E G H | 1106 | 1917 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 227 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CIT CL E G H | 11113 | 1985 | OMIM:617090 | Microcephaly 17, primary, autosomal recessive | . | | | 15 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:618186 | Neuropathy, congenital hypomyelinating, 3 | . | | | 9 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | COG6 CL E G H | 57511 | 18621 | ORPHA:363523 | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | HP:0040282 - Frequent | | | 71 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | | | | 215 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | | | | 215 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | | | | 38 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | | | | 38 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | | | | 127 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | CYP24A1 CL E G H | 1591 | 2602 | OMIM:143880 | Hypercalcemia, infantile, 1 | | | | 73 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | DEAF1 CL E G H | 10522 | 14677 | OMIM:615828 | Mental retardation, autosomal dominant 24 | | | | 33 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | DENND5A CL E G H | 23258 | 19344 | OMIM:617281 | Epileptic encephalopathy, early infantile, 49 | | | | 6 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | 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:0012471 | HP:0012471 | Thick vermilion border | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | 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:0012471 | HP:0012471 | Thick vermilion border | 0 | DOCK7 CL E G H | 85440 | 19190 | OMIM:615859 | Epileptic encephalopathy, early infantile, 23 | . | | | 11 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | DYRK1A CL E G H | 1859 | 3091 | OMIM:614104 | Mental retardation, autosomal dominant 7 | | | | 134 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ECM1 CL E G H | 1893 | 3153 | ORPHA:530 | Lipoid proteinosis | | | | 14 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | EDAR CL E G H | 10913 | 2895 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 86 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 86 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 56 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | EDEM3 CL E G H | 80267 | 16787 | OMIM:619493 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | | | | 223 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | EIF2S3 CL E G H | 1968 | 3267 | ORPHA:85282 | MEHMO syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ERF CL E G H | 2077 | 3444 | OMIM:617180 | Chitayat syndrome | . | | | 12 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | EXOSC1 CL E G H | 51013 | 17286 | OMIM:619304 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:969 | Acromicric dysplasia | | | | 1361 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:102370 | Acromicric dysplasia | | | | 1361 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | FBXO31 CL E G H | 79791 | 16510 | OMIM:615979 | Mental retardation, autosomal recessive 45 | | | | 8 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | FIBP CL E G H | 9158 | 3705 | OMIM:617107 | Thauvin-Robinet-Faivre syndrome | . | | | 2 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:314400 | Cardiac valvular dysplasia, X-linked | HP:0040284 - Very rare | | | 493 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:555877 | FLNA-related X-linked myxomatous valvular dysplasia | | | | 493 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | HP:0040282 - Frequent | | | 184 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | FRMD4A CL E G H | 55691 | 25491 | ORPHA:466688 | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | | | | 1 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | FTSJ1 CL E G H | 24140 | 13254 | OMIM:309549 | Mental retardation, X-linked 9 | | | | 13 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | | | | 43 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | | | | 291 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | | | | 3 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | GNAI1 CL E G H | 2770 | 4384 | OMIM:619854 | | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:301026 | Keipert syndrome | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | | | | 5 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | GRIA1 CL E G H | 2890 | 4571 | OMIM:619927 | | | | | 3 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | HP:0040283 - Occasional | | | 30 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | HECW2 CL E G H | 57520 | 29853 | OMIM:617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | | | | 11 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | | | | 113 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | | | | 113 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040283 - Occasional | | | 86 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040283 - Occasional | | | 86 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | | | | 86 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040282 - Frequent | | | 115 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | . | | | 115 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | . | | | 115 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93474 | Scheie syndrome | HP:0040282 - Frequent | | | 115 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | | | | 4 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | | | | 229 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | HP:0040283 - Occasional | | | 229 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | KAT8 CL E G H | 84148 | 17933 | OMIM:618974 | LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | KCNE5 CL E G H | 23630 | 6241 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | . | | | 13 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | | | | 13 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | KCNJ8 CL E G H | 3764 | 6269 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040281 - Very frequent | | | 23 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | HP:0040282 - Frequent | | | 4 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | KDF1 CL E G H | 126695 | 26624 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 1 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | . | | | 9 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | | | | 46 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | HP:0040283 - Occasional | | | 46 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | . | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | KMT2C CL E G H | 58508 | 13726 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | | | | 99 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | | | | 196 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | KREMEN1 CL E G H | 83999 | 17550 | OMIM:617392 | Ectodermal dysplasia 13, Hair/tooth type | HP:0040283 - Occasional | | | 1 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | LARP7 CL E G H | 51574 | 24912 | ORPHA:319671 | Alazami syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | LARP7 CL E G H | 51574 | 24912 | OMIM:615071 | Alazami syndrome | . | | | 16 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | LTBP1 CL E G H | 4052 | 6714 | OMIM:619451 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | LTBP3 CL E G H | 4054 | 6716 | ORPHA:969 | Acromicric dysplasia | | | | 12 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:617809 | Geleophysic dysplasia 3 | . | | | 12 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | | | | 43 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | HP:0040284 - Very rare | | | 93 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | MCM5 CL E G H | 4174 | 6948 | OMIM:617564 | Meier-Gorlin syndrome 8 | . | | | 2 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | HP:0040282 - Frequent | | | 228 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | | | | 228 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | 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:0012471 | HP:0012471 | Thick vermilion border | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | | | | 3 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | . | | | 96 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | MOCS2 CL E G H | 4338 | 7193 | OMIM:252160 | Molybdenum cofactor deficiency, complementation group B | . | | | 26 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | MRAS CL E G H | 22808 | 7227 | OMIM:618499 | NOONAN SYNDROME 11; NS11 | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | . | | | 35 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | NAGA CL E G H | 4668 | 7631 | ORPHA:79280 | Alpha-N-acetylgalactosaminidase deficiency type 2 | HP:0040282 - Frequent | | | 47 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | NAGA CL E G H | 4668 | 7631 | OMIM:609242 | Kanzaki disease | | | | 47 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | NANS CL E G H | 54187 | 19237 | OMIM:610442 | Spondyloepimetaphyseal dysplasia, Genevieve type | | | | 8 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:812 | Sialidosis type 1 | | | | 43 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 52 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040283 - Occasional | | | 1952 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:447980 | 19p13.3 microduplication syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | | | | 102 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | | | | 84 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | OBSL1 CL E G H | 23363 | 29092 | OMIM:612921 | 3-M syndrome 2 | | | | 143 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300804 | Joubert syndrome 10 | . | | | 201 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | OGT CL E G H | 8473 | 8127 | OMIM:300997 | Mental retardation, X-linked 106 | | | | 4 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 53 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | | | | 39 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | . | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | PAK3 CL E G H | 5063 | 8592 | OMIM:300558 | MENTAL RETARDATION, X-LINKED 30; MRX30 | | | | 27 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | PCDHGC4 CL E G H | 56098 | 8717 | OMIM:619880 | | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | | | | 37 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | PIDD1 CL E G H | 55367 | 16491 | OMIM:619827 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75 | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | POU4F1 CL E G H | 5457 | 9218 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | PPP1CB CL E G H | 5500 | 9282 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | | | | 9 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | PPP3CA CL E G H | 5530 | 9314 | OMIM:617711 | Epileptic encephalopathy, infantile or early childhood, 1 | | | | 2 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | HP:0040282 - Frequent | | | 6 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | | | | 291 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | PUS7 CL E G H | 54517 | 26033 | OMIM:618342 | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | . | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | PYCR2 CL E G H | 29920 | 30262 | OMIM:616420 | Leukodystrophy, hypomyelinating, 10 | . | | | 11 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611554 | LEOPARD SYNDROME 2; LPRD2 | | | | 212 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | | | | 212 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611553 | Noonan syndrome 5 | | | | 212 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | | | | 3 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RBL2 CL E G H | 5934 | 9894 | OMIM:619690 | BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RBMX CL E G H | 27316 | 9910 | OMIM:300238 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11 | | | | 2 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | | | | 572 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | | | | 43 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | | | | 39 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RNF135 CL E G H | 84282 | 21158 | ORPHA:137634 | Overgrowth-macrocephaly-facial dysmorphism syndrome | | | | 11 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:226960 | EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS | | | | 15 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040282 - Frequent | | | 15 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RPS23 CL E G H | 6228 | 10410 | OMIM:617412 | BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD | | | | 2 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | | | | 65 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:300844 | MENTAL RETARDATION, X-LINKED 19; MRX19 | | | | 65 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RPS7 CL E G H | 6201 | 10440 | OMIM:612563 | Diamond-Blackfan anemia 8 | | | | 20 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | | | | 1 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | . | | | 2 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 1053 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 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:0012471 | HP:0012471 | Thick vermilion border | 0 | SEC31A CL E G H | 22872 | 17052 | OMIM:618651 | HALPERIN-BIRK SYNDROME; HLBKS | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SET CL E G H | 6418 | 10760 | OMIM:618106 | Mental retardation, autosomal dominant 58 | . | | | 1 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | | | | 143 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SETD1B CL E G H | 23067 | 29187 | OMIM:619000 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | HP:0040281 - Very frequent | | | 134 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SHOC2 CL E G H | 8036 | 15454 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | | | | 74 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | | | | 9 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 255 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | . | | | 27 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SLC6A1 CL E G H | 6529 | 11042 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 29 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | | | | 617 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | | | | 87 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:614608 | Coffin-Siris syndrome 3 | | | | 87 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | | | | 1 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SMARCC2 CL E G H | 6601 | 11105 | OMIM:618362 | Coffin-Siris syndrome 8 | | | | 1 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | | | | 47 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | | | | 47 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SMG8 CL E G H | 55181 | 25551 | OMIM:619268 | ALZAHRANI-KUWAHARA SYNDROME; ALKUS | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | | | | 2 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | | | | 19 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | . | | | 14 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | | | | 315 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | | | | 30 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | | | | 14 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SOX11 CL E G H | 6664 | 11191 | OMIM:615866 | Mental retardation, autosomal dominant 27 | . | | | 14 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | . | | | 7 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SPATA5L1 CL E G H | 79029 | 28762 | OMIM:619616 | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612713 | Kahrizi syndrome | | | | 80 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:521258 | Xq25 microduplication syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | STRADA CL E G H | 92335 | 30172 | OMIM:611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | | | | 6 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 108 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040281 - Very frequent | | | 241 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | HP:0040281 - Very frequent | | | 104 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | THOC6 CL E G H | 79228 | 28369 | ORPHA:363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | | | | 1 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | | | | 6 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | | | | 6 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | TRAF6 CL E G H | 7189 | 12036 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | . | | | 8 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | TSPEAR CL E G H | 54084 | 1268 | OMIM:618180 | Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | . | | | 39 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:227260 | FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 | | | | 7 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | UGDH CL E G H | 7358 | 12525 | OMIM:618792 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84 | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | HP:0040283 - Occasional | | | 27 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040283 - Occasional | | | 1 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | . | | | 1 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | WDR26 CL E G H | 80232 | 21208 | OMIM:617616 | Skraban-Deardorff syndrome | | | | 8 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:370930 | XYLT1-CDG | HP:0040282 - Frequent | | | 14 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | YY1 CL E G H | 7528 | 12856 | OMIM:617557 | Gabriele-De vries syndrome | | | | 7 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | | | | 7 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | | | | 362 | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0012471 | HP:0012471 | Thick vermilion border | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | . | | | 254 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | . | | | 254 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | ACER3 CL E G H | 55331 | 16066 | OMIM:617762 | Leukodystrophy, progressive, early childhood-onset | . | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | ADNP CL E G H | 23394 | 15766 | OMIM:615873 | Helsmoortel-van der Aa syndrome | | | | 47 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | . | | | 76 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 95 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | . | | | 8 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | AP2M1 CL E G H | 1173 | 564 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | HP:0040282 - Frequent | | | 3179 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | 88 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | 219 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | HP:0040282 - Frequent | | | 169 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | . | | | 169 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | BRCA1 CL E G H | 672 | 1100 | OMIM:617883 | Fanconi anemia, complementation group S | . | | | 5769 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | C12ORF57 CL E G H | 113246 | 29521 | ORPHA:1777 | Temtamy syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | . | | | 34 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | CAMTA1 CL E G H | 23261 | 18806 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040282 - Frequent | | | 34 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 317 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | . | | | 2 | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | CDKL5 CL E G H | 6792 | 11411 | OMIM:300672 | Developmental and epileptic encephalopathy 2 | . | | | 405 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | CDT1 CL E G H | 81620 | 24576 | OMIM:613804 | Meier-Gorlin syndrome 4 | . | | | 50 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | CHD2 CL E G H | 1106 | 1917 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 227 | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | HP:0040281 - Very frequent | | | 215 | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | . | | | 215 | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | HP:0040281 - Very frequent | | | 215 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | . | | | 215 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | | | | 38 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | HP:0040282 - Frequent | | | 38 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | . | | | 127 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | CYP24A1 CL E G H | 1591 | 2602 | OMIM:143880 | Hypercalcemia, infantile, 1 | . | | | 73 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | DEAF1 CL E G H | 10522 | 14677 | OMIM:615828 | Mental retardation, autosomal dominant 24 | . | | | 33 | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | DENND5A CL E G H | 23258 | 19344 | OMIM:617281 | Epileptic encephalopathy, early infantile, 49 | . | | | 6 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | DYRK1A CL E G H | 1859 | 3091 | OMIM:614104 | Mental retardation, autosomal dominant 7 | | | | 134 | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | ECM1 CL E G H | 1893 | 3153 | ORPHA:530 | Lipoid proteinosis | HP:0040281 - Very frequent | | | 14 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040283 - Occasional | | | 223 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:102370 | Acromicric dysplasia | . | | | 1361 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | FBN1 CL E G H | 2200 | 3603 | ORPHA:969 | Acromicric dysplasia | HP:0040282 - Frequent | | | 1361 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:555877 | FLNA-related X-linked myxomatous valvular dysplasia | | | | 493 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | FRMD4A CL E G H | 55691 | 25491 | ORPHA:466688 | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | FTSJ1 CL E G H | 24140 | 13254 | OMIM:309549 | Mental retardation, X-linked 9 | . | | | 13 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | . | | | 43 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040282 - Frequent | | | 291 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | GNAI1 CL E G H | 2770 | 4384 | OMIM:619854 | | | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | . | | | 69 | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:301026 | Keipert syndrome | . | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 5 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | HECW2 CL E G H | 57520 | 29853 | OMIM:617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | . | | | 11 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | . | | | 229 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | . | | | 46 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | KMT2C CL E G H | 58508 | 13726 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040283 - Occasional | | | 99 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | LTBP1 CL E G H | 4052 | 6714 | OMIM:619451 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E | | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | LTBP3 CL E G H | 4054 | 6716 | ORPHA:969 | Acromicric dysplasia | HP:0040282 - Frequent | | | 12 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | . | | | 228 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040282 - Frequent | | | 3 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | . | | | 23 | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | NAGA CL E G H | 4668 | 7631 | OMIM:609242 | Kanzaki disease | . | | | 47 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | NANS CL E G H | 54187 | 19237 | OMIM:610442 | Spondyloepimetaphyseal dysplasia, Genevieve type | . | | | 8 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | NEU1 CL E G H | 4758 | 7758 | ORPHA:812 | Sialidosis type 1 | HP:0040281 - Very frequent | | | 43 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 52 | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | . | | | 22 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 102 | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | . | | | 84 | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | PAK3 CL E G H | 5063 | 8592 | OMIM:300558 | MENTAL RETARDATION, X-LINKED 30; MRX30 | | | | 27 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | . | | | 37 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | POU4F1 CL E G H | 5457 | 9218 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040282 - Frequent | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | PPP1CB CL E G H | 5500 | 9282 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040283 - Occasional | | | 9 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | . | | | 20 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 291 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | PUS7 CL E G H | 54517 | 26033 | OMIM:618342 | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | RAF1 CL E G H | 5894 | 9829 | OMIM:611554 | LEOPARD SYNDROME 2; LPRD2 | | | | 212 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 212 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | RBMX CL E G H | 27316 | 9910 | OMIM:300238 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11 | | | | 2 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | . | | | 572 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | RNF135 CL E G H | 84282 | 21158 | ORPHA:137634 | Overgrowth-macrocephaly-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | RPS23 CL E G H | 6228 | 10410 | OMIM:617412 | BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD | | | | 2 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:300844 | MENTAL RETARDATION, X-LINKED 19; MRX19 | | | | 65 | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | RPS7 CL E G H | 6201 | 10440 | OMIM:612563 | Diamond-Blackfan anemia 8 | . | | | 20 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 1053 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SETD1B CL E G H | 23067 | 29187 | OMIM:619000 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD | | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SHOC2 CL E G H | 8036 | 15454 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040283 - Occasional | | | 74 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 255 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SLC6A1 CL E G H | 6529 | 11042 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 29 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | . | | | 146 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | 617 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SMARCC2 CL E G H | 6601 | 11105 | OMIM:618362 | Coffin-Siris syndrome 8 | . | | | 1 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | 47 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | | | | 47 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | . | | | 2 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | . | | | 19 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | HP:0040282 - Frequent | | | 19 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 315 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 30 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | SPATA5L1 CL E G H | 79029 | 28762 | OMIM:619616 | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS | | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612713 | Kahrizi syndrome | . | | | 80 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | STRADA CL E G H | 92335 | 30172 | OMIM:611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | | | | 6 | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | STRADA CL E G H | 92335 | 30172 | OMIM:611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | | | | 6 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 108 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 271 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | THOC6 CL E G H | 79228 | 28369 | ORPHA:363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040282 - Frequent | | | 6 | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | . | | | 6 | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | TWIST2 CL E G H | 117581 | 20670 | OMIM:227260 | FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 | | | | 7 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | UGDH CL E G H | 7358 | 12525 | OMIM:618792 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84 | | | | | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0012471 | HP:0000215 | Thick upper lip vermilion | 1 | WDR26 CL E G H | 80232 | 21208 | OMIM:617616 | Skraban-Deardorff syndrome | . | | | 8 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | YY1 CL E G H | 7528 | 12856 | OMIM:617557 | Gabriele-De vries syndrome | . | | | 7 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040282 - Frequent | | | 362 | | |
HP:0012471 | HP:0000179 | Thick lower lip vermilion | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040282 - Frequent | | | 362 | | |