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:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ABCA12 CL E G H | 26154 | 14637 | OMIM:242500 | Ichthyosis, congenital, autosomal recessive 4B | | | | 130 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:313 | Lamellar ichthyosis | | | | 130 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | | | | 254 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ABHD5 CL E G H | 51099 | 21396 | OMIM:275630 | Chanarin-Dorfman syndrome | | | | 90 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ACER3 CL E G H | 55331 | 16066 | OMIM:617762 | Leukodystrophy, progressive, early childhood-onset | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | | | | 165 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ADNP CL E G H | 23394 | 15766 | OMIM:615873 | Helsmoortel-van der Aa syndrome | | | | 47 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | | | | 76 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | | | | 95 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ALOX12B CL E G H | 242 | 430 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | | | | 75 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ALOX12B CL E G H | 242 | 430 | ORPHA:313 | Lamellar ichthyosis | | | | 75 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | | | | 63 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:313 | Lamellar ichthyosis | | | | 63 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | | | | 34 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | | | | 8 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | | | | 8 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | AP2M1 CL E G H | 1173 | 564 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | | | | 88 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | | | | 219 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | | | | 25 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ASPRV1 CL E G H | 151516 | 26321 | ORPHA:313 | Lamellar ichthyosis | | | | 1 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | | | | 49 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | | | | 169 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | | | | 169 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | | | | 169 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | BCAS3 CL E G H | 54828 | 14347 | OMIM:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS | | | | 2 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | BCL11A CL E G H | 53335 | 13221 | OMIM:617101 | Intellectual developmental disorder with persistence of fetal hemoglobin | | | | 11 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | BDNF CL E G H | 627 | 1033 | ORPHA:893 | WAGR syndrome | | | | 5 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | | | | 13 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | C12ORF57 CL E G H | 113246 | 29521 | ORPHA:1777 | Temtamy syndrome | | | | 13 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | CAMTA1 CL E G H | 23261 | 18806 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | | | | 34 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | | | | 317 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | CCDC8 CL E G H | 83987 | 25367 | ORPHA:2616 | 3M syndrome | | | | 5 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | | | | 2 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:619736 | TEEBI HYPERTELORISM SYNDROME 2; TBHS2 | | | | 2 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | | | | 405 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | CDKL5 CL E G H | 6792 | 11411 | OMIM:300672 | Developmental and epileptic encephalopathy 2 | | | | 405 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | CDT1 CL E G H | 81620 | 24576 | OMIM:613804 | Meier-Gorlin syndrome 4 | | | | 50 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | | | | 16 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | CHD2 CL E G H | 1106 | 1917 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 227 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | CLIC2 CL E G H | 1193 | 2063 | ORPHA:324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | | | | 4 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | | | | 215 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | | | | 215 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | | | | 38 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | | | | 38 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | | | | 127 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | CUL7 CL E G H | 9820 | 21024 | ORPHA:2616 | 3M syndrome | | | | 127 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | CYP24A1 CL E G H | 1591 | 2602 | OMIM:143880 | Hypercalcemia, infantile, 1 | | | | 73 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | CYP4F22 CL E G H | 126410 | 26820 | ORPHA:313 | Lamellar ichthyosis | | | | 54 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | DEAF1 CL E G H | 10522 | 14677 | OMIM:615828 | Mental retardation, autosomal dominant 24 | | | | 33 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | DHX30 CL E G H | 22907 | 16716 | OMIM:617804 | Neurodevelopmental disorder with severe motor impairment and absent language | | | | 4 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | DOCK7 CL E G H | 85440 | 19190 | ORPHA:411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | | | | 11 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | DYRK1A CL E G H | 1859 | 3091 | OMIM:614104 | Mental retardation, autosomal dominant 7 | | | | 134 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ECM1 CL E G H | 1893 | 3153 | ORPHA:530 | Lipoid proteinosis | | | | 14 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | | | | 115 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | | | | 115 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | EDA2R CL E G H | 60401 | 17756 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | | | | 11 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 86 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 56 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:614940 | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | | | | 56 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 56 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | EDNRA CL E G H | 1909 | 3179 | OMIM:616367 | Mandibulofacial dysostosis with alopecia | | | | 3 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | | | | 60 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | | | | 223 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | | | | 223 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | | | | 20 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | | | | 106 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | | | | 83 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | | | | 199 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:102370 | Acromicric dysplasia | | | | 1361 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:969 | Acromicric dysplasia | | | | 1361 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | | | | 384 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | FBXO11 CL E G H | 80204 | 13590 | OMIM:618089 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | | | | 7 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | | | | 68 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:555877 | FLNA-related X-linked myxomatous valvular dysplasia | | | | 493 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:782 | Axenfeld-Rieger syndrome | | | | 63 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | | | | 177 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | FRMD4A CL E G H | 55691 | 25491 | OMIM:616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | | | | 1 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | FRMD4A CL E G H | 55691 | 25491 | ORPHA:466688 | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | | | | 1 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | FTSJ1 CL E G H | 24140 | 13254 | OMIM:309549 | Mental retardation, X-linked 9 | | | | 13 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | | | | 43 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | | | | 291 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | GNAI1 CL E G H | 2770 | 4384 | OMIM:619854 | | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | | | | 5 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | GRHL3 CL E G H | 57822 | 25839 | ORPHA:888 | Van der Woude syndrome | | | | 12 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | HECW2 CL E G H | 57520 | 29853 | OMIM:617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | | | | 11 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | | | | 86 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | | | | 113 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | | | | 113 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:137550 | Melanocytic nevus syndrome, congenital | | | | 113 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | | | | 345 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | | | | 86 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | | | | 115 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93474 | Scheie syndrome | | | | 115 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 11 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:614099 | Cranioectodermal dysplasia 3 | | | | 11 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 4 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | IGF1R CL E G H | 3480 | 5465 | ORPHA:73273 | Growth delay due to insulin-like growth factor I resistance | | | | 268 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | | | | 229 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | IRF6 CL E G H | 3664 | 6121 | OMIM:119500 | Popliteal pterygium syndrome | | | | 99 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:888 | Van der Woude syndrome | | | | 99 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | IRF6 CL E G H | 3664 | 6121 | OMIM:119300 | van der Woude syndrome 1 | | | | 99 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | | | | 4 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | | | | 283 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | | | | 283 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | | | | 13 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | | | | 46 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | KMT2C CL E G H | 58508 | 13726 | OMIM:617768 | Kleefstra syndrome 2 | | | | 99 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | KMT2C CL E G H | 58508 | 13726 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | | | | 99 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | KNSTRN CL E G H | 90417 | 30767 | OMIM:613328 | Roifman-Chitayat syndrome | | | | 1 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | | | | 196 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | LIPN CL E G H | 643418 | 23452 | ORPHA:313 | Lamellar ichthyosis | | | | 1 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | LTBP1 CL E G H | 4052 | 6714 | OMIM:619451 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | LTBP3 CL E G H | 4054 | 6716 | ORPHA:969 | Acromicric dysplasia | | | | 12 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | | | | 43 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | | | | 252 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | . | | | 252 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | MCOLN1 CL E G H | 57192 | 13356 | ORPHA:578 | Mucolipidosis type IV | | | | 78 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | MDH1 CL E G H | 4190 | 6970 | OMIM:618959 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88 | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:1762 | Proximal Xq28 duplication syndrome | | | | 950 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | | | | 228 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | | | | 74 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | MED25 CL E G H | 81857 | 28845 | OMIM:616449 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | | | | 39 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:2228 | Hypodontia-dysplasia of nails syndrome | | | | 12 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | | | | 35 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | MYO18B CL E G H | 84700 | 18150 | OMIM:616549 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | | | | 5 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | NAGA CL E G H | 4668 | 7631 | OMIM:609242 | Kanzaki disease | | | | 47 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | NANS CL E G H | 54187 | 19237 | OMIM:610442 | Spondyloepimetaphyseal dysplasia, Genevieve type | | | | 8 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:812 | Sialidosis type 1 | | | | 43 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 52 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:614753 | Sotos syndrome 2 | | | | 40 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:313 | Lamellar ichthyosis | | | | 60 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:137550 | Melanocytic nevus syndrome, congenital | | | | 102 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | | | | 102 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | OBSL1 CL E G H | 23363 | 29092 | ORPHA:2616 | 3M syndrome | | | | 143 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | | | | 88 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:893 | WAGR syndrome | | | | 194 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | PCDHGC4 CL E G H | 56098 | 8717 | OMIM:619880 | | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | | | | 37 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | | | | 36 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | | | 37 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:613328 | Roifman-Chitayat syndrome | | | | 9 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | PITX2 CL E G H | 5308 | 9005 | ORPHA:782 | Axenfeld-Rieger syndrome | | | | 51 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip 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:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | POU4F1 CL E G H | 5457 | 9218 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | PPP1CB CL E G H | 5500 | 9282 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | | | | 9 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | | | | 291 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | PUS7 CL E G H | 54517 | 26033 | OMIM:618342 | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | | | | 90 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | | | | 135 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611554 | LEOPARD SYNDROME 2; LPRD2 | | | | 212 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | | | | 212 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | | | | 3 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | RBMX CL E G H | 27316 | 9910 | OMIM:300238 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11 | | | | 2 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | | | | 572 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | | | | 3 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | | | | 39 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | RNF135 CL E G H | 84282 | 21158 | ORPHA:137634 | Overgrowth-macrocephaly-facial dysmorphism syndrome | | | | 11 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | | | | 10 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | RPS23 CL E G H | 6228 | 10410 | OMIM:617412 | BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD | | | | 2 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | | | | 65 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | | | | 65 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:300844 | MENTAL RETARDATION, X-LINKED 19; MRX19 | | | | 65 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:276630 | Symptomatic form of Coffin-Lowry syndrome in female carriers | | | | 65 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | | | | 1 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 1053 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SDR9C7 CL E G H | 121214 | 29958 | ORPHA:313 | Lamellar ichthyosis | | | | 2 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SETD1B CL E G H | 23067 | 29187 | OMIM:619000 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SHOC2 CL E G H | 8036 | 15454 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | | | | 74 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | | | | 9 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2963 | Progeroid syndrome, Petty type | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 255 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SLC6A1 CL E G H | 6529 | 11042 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 29 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | | | | 617 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | | | | 87 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | | | | 1 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SMARCC2 CL E G H | 6601 | 11105 | OMIM:618362 | Coffin-Siris syndrome 8 | | | | 1 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | | | | 47 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | | | | 47 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | | | | 2 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | | | | 19 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | | | | 315 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | | | | 30 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | | | | 14 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SOX11 CL E G H | 6664 | 11191 | OMIM:615866 | Mental retardation, autosomal dominant 27 | | | | 14 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | | | | 6 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:619595 | DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA | | | | 138 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612713 | Kahrizi syndrome | | | | 80 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | STRADA CL E G H | 92335 | 30172 | OMIM:611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | | | | 6 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SULT2B1 CL E G H | 6820 | 11459 | ORPHA:313 | Lamellar ichthyosis | | | | 4 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 108 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | | | | 22 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | | | | 22 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | | | | 12 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | | | | 104 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip 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:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | TGM1 CL E G H | 7051 | 11777 | OMIM:242300 | Ichthyosis, congenital, autosomal recessive 1 | | | | 98 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:313 | Lamellar ichthyosis | | | | 98 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | THOC6 CL E G H | 79228 | 28369 | ORPHA:363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | | | | 1 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | TNPO2 CL E G H | 30000 | 19998 | OMIM:619556 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | UGDH CL E G H | 7358 | 12525 | OMIM:618792 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84 | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 95 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 136 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | | | | 136 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:893 | WAGR syndrome | | | | 177 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | YY1 CL E G H | 7528 | 12856 | OMIM:617557 | Gabriele-De vries syndrome | | | | 7 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | | | | 7 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | | | | 362 | | |
HP:0000178 | HP:0000178 | Abnormal lower lip morphology | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:617865 | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | | | | 5 | | |
HP:0000178 | HP:0010281 | Cleft lower lip | 1 | CL E G H | | | | | | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | ABCA12 CL E G H | 26154 | 14637 | OMIM:242500 | Ichthyosis, congenital, autosomal recessive 4B | . | | | 130 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:313 | Lamellar ichthyosis | HP:0040282 - Frequent | | | 130 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | . | | | 254 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | ABHD5 CL E G H | 51099 | 21396 | OMIM:275630 | Chanarin-Dorfman syndrome | . | | | 90 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | ACER3 CL E G H | 55331 | 16066 | OMIM:617762 | Leukodystrophy, progressive, early childhood-onset | . | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | . | | | 165 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | ADNP CL E G H | 23394 | 15766 | OMIM:615873 | Helsmoortel-van der Aa syndrome | | | | 47 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | ADNP CL E G H | 23394 | 15766 | OMIM:615873 | Helsmoortel-van der Aa syndrome | | | | 47 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | . | | | 76 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 95 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | ALOX12B CL E G H | 242 | 430 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | HP:0040283 - Occasional | | | 75 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | ALOX12B CL E G H | 242 | 430 | ORPHA:313 | Lamellar ichthyosis | HP:0040282 - Frequent | | | 75 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | HP:0040283 - Occasional | | | 63 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:313 | Lamellar ichthyosis | HP:0040282 - Frequent | | | 63 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | . | | | 8 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | AP2M1 CL E G H | 1173 | 564 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | | | |
HP:0000178 | 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:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0000178 | 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:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0000178 | 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:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | ASPRV1 CL E G H | 151516 | 26321 | ORPHA:313 | Lamellar ichthyosis | HP:0040282 - Frequent | | | 1 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000178 | 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:0000178 | HP:0000232 | Everted 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:0000178 | 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:0000178 | 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:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | BCAS3 CL E G H | 54828 | 14347 | OMIM:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS | | | | 2 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | BCL11A CL E G H | 53335 | 13221 | OMIM:617101 | Intellectual developmental disorder with persistence of fetal hemoglobin | . | | | 11 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | BDNF CL E G H | 627 | 1033 | ORPHA:893 | WAGR syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | . | | | 13 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | C12ORF57 CL E G H | 113246 | 29521 | ORPHA:1777 | Temtamy syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | . | | | 34 | | |
HP:0000178 | 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:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 317 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | CCDC8 CL E G H | 83987 | 25367 | ORPHA:2616 | 3M syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | . | | | 2 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | CDH11 CL E G H | 1009 | 1750 | OMIM:619736 | TEEBI HYPERTELORISM SYNDROME 2; TBHS2 | | | | 2 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | HP:0040282 - Frequent | | | 405 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | CDKL5 CL E G H | 6792 | 11411 | OMIM:300672 | Developmental and epileptic encephalopathy 2 | . | | | 405 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | CDT1 CL E G H | 81620 | 24576 | OMIM:613804 | Meier-Gorlin syndrome 4 | . | | | 50 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | . | | | 16 | | |
HP:0000178 | 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:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | CLIC2 CL E G H | 1193 | 2063 | ORPHA:324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | . | | | 215 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | HP:0040281 - Very frequent | | | 215 | | |
HP:0000178 | 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:0000178 | 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:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | . | | | 127 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | CUL7 CL E G H | 9820 | 21024 | ORPHA:2616 | 3M syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | CYP24A1 CL E G H | 1591 | 2602 | OMIM:143880 | Hypercalcemia, infantile, 1 | . | | | 73 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | CYP4F22 CL E G H | 126410 | 26820 | ORPHA:313 | Lamellar ichthyosis | HP:0040282 - Frequent | | | 54 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | DEAF1 CL E G H | 10522 | 14677 | OMIM:615828 | Mental retardation, autosomal dominant 24 | . | | | 33 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | DHX30 CL E G H | 22907 | 16716 | OMIM:617804 | Neurodevelopmental disorder with severe motor impairment and absent language | . | | | 4 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 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:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | | | | | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | DYRK1A CL E G H | 1859 | 3091 | OMIM:614104 | Mental retardation, autosomal dominant 7 | | | | 134 | | |
HP:0000178 | 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:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | ECM1 CL E G H | 1893 | 3153 | ORPHA:530 | Lipoid proteinosis | HP:0040281 - Very frequent | | | 14 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | EDA CL E G H | 1896 | 3157 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 115 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | EDA2R CL E G H | 60401 | 17756 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 11 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | EDAR CL E G H | 10913 | 2895 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 86 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | EDARADD CL E G H | 128178 | 14341 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | EDARADD CL E G H | 128178 | 14341 | OMIM:614940 | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | . | | | 56 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | EDNRA CL E G H | 1909 | 3179 | OMIM:616367 | Mandibulofacial dysostosis with alopecia | . | | | 3 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | . | | | 60 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040281 - Very frequent | | | 223 | | |
HP:0000178 | 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:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 199 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:102370 | Acromicric dysplasia | . | | | 1361 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | FBN1 CL E G H | 2200 | 3603 | ORPHA:969 | Acromicric dysplasia | HP:0040282 - Frequent | | | 1361 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | . | | | 384 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | FBXO11 CL E G H | 80204 | 13590 | OMIM:618089 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | . | | | 7 | | |
HP:0000178 | HP:0002055 | Curved linear dimple below the lower lip | 1 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | . | | | 62 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | HP:0040281 - Very frequent | | | 62 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | . | | | 68 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | 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:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040282 - Frequent | | | 63 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | HP:0040281 - Very frequent | | | 177 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | FRMD4A CL E G H | 55691 | 25491 | OMIM:616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | | | | 1 | | |
HP:0000178 | 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:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | FTSJ1 CL E G H | 24140 | 13254 | OMIM:309549 | Mental retardation, X-linked 9 | . | | | 13 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | . | | | 43 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0000178 | 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:0000178 | 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:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040282 - Frequent | | | 291 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | GNAI1 CL E G H | 2770 | 4384 | OMIM:619854 | | | | | | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | . | | | 69 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 5 | | |
HP:0000178 | HP:0000196 | Lower lip pit | 1 | GRHL3 CL E G H | 57822 | 25839 | ORPHA:888 | Van der Woude syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0000178 | 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:0000178 | 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:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | . | | | 86 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | HRAS CL E G H | 3265 | 5173 | OMIM:137550 | Melanocytic nevus syndrome, congenital | . | | | 113 | | |
HP:0000178 | HP:0010282 | Thin lower lip vermilion | 1 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040281 - Very frequent | | | 345 | | |
HP:0000178 | 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:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040282 - Frequent | | | 115 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | IDUA CL E G H | 3425 | 5391 | ORPHA:93474 | Scheie syndrome | HP:0040282 - Frequent | | | 115 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040282 - Frequent | | | 93 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040282 - Frequent | | | 11 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | IFT43 CL E G H | 112752 | 29669 | OMIM:614099 | Cranioectodermal dysplasia 3 | HP:0040283 - Occasional | | | 11 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040282 - Frequent | | | 4 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 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:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | . | | | 229 | | |
HP:0000178 | HP:0000196 | Lower lip pit | 1 | IRF6 CL E G H | 3664 | 6121 | OMIM:119500 | Popliteal pterygium syndrome | . | | | 99 | | |
HP:0000178 | HP:0000196 | Lower lip pit | 1 | IRF6 CL E G H | 3664 | 6121 | ORPHA:888 | Van der Woude syndrome | HP:0040282 - Frequent | | | 99 | | |
HP:0000178 | HP:0000196 | Lower lip pit | 1 | IRF6 CL E G H | 3664 | 6121 | OMIM:119300 | van der Woude syndrome 1 | . | | | 99 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | | | | 4 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040282 - Frequent | | | 283 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040282 - Frequent | | | 283 | | |
HP:0000178 | 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:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0000178 | HP:0000196 | Lower lip pit | 1 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0000178 | 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:0000178 | 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:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | . | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | KMT2C CL E G H | 58508 | 13726 | OMIM:617768 | Kleefstra syndrome 2 | | | | 99 | | |
HP:0000178 | 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:0000178 | HP:0010282 | Thin lower lip vermilion | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0000178 | HP:0010282 | Thin lower lip vermilion | 1 | KNSTRN CL E G H | 90417 | 30767 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 1 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | LIPN CL E G H | 643418 | 23452 | ORPHA:313 | Lamellar ichthyosis | HP:0040282 - Frequent | | | 1 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | LTBP1 CL E G H | 4052 | 6714 | OMIM:619451 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E | | | | | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | LTBP3 CL E G H | 4054 | 6716 | ORPHA:969 | Acromicric dysplasia | HP:0040282 - Frequent | | | 12 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | HP:0040282 - Frequent | | | 252 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | MCOLN1 CL E G H | 57192 | 13356 | ORPHA:578 | Mucolipidosis type IV | HP:0040283 - Occasional | | | 78 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | MDH1 CL E G H | 4190 | 6970 | OMIM:618959 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88 | | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | MECP2 CL E G H | 4204 | 6990 | ORPHA:1762 | Proximal Xq28 duplication syndrome | HP:0040281 - Very frequent | | | 950 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | . | | | 228 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | | | | 74 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | MED25 CL E G H | 81857 | 28845 | OMIM:616449 | Basel-Vanagaite-Smirin-Yosef syndrome | . | | | 43 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | . | | | 39 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | MSX1 CL E G H | 4487 | 7391 | ORPHA:2228 | Hypodontia-dysplasia of nails syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | . | | | 35 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | MYO18B CL E G H | 84700 | 18150 | OMIM:616549 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | | | | 5 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | NAGA CL E G H | 4668 | 7631 | OMIM:609242 | Kanzaki disease | . | | | 47 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | NANS CL E G H | 54187 | 19237 | OMIM:610442 | Spondyloepimetaphyseal dysplasia, Genevieve type | . | | | 8 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000178 | 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:0000178 | 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:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:614753 | Sotos syndrome 2 | . | | | 40 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:313 | Lamellar ichthyosis | HP:0040282 - Frequent | | | 60 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:137550 | Melanocytic nevus syndrome, congenital | . | | | 102 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 102 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | OBSL1 CL E G H | 23363 | 29092 | ORPHA:2616 | 3M syndrome | HP:0040281 - Very frequent | | | 143 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040283 - Occasional | | | 88 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | PAX6 CL E G H | 5080 | 8620 | ORPHA:893 | WAGR syndrome | HP:0040282 - Frequent | | | 194 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | PCDHGC4 CL E G H | 56098 | 8717 | OMIM:619880 | | | | | | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | . | | | 37 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0000178 | HP:0010282 | Thin lower lip vermilion | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0000178 | HP:0010282 | Thin lower lip vermilion | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0000178 | HP:0010282 | Thin lower lip vermilion | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 9 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | PITX2 CL E G H | 5308 | 9005 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | HP:0040282 - Frequent | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | | | | 180 | | |
HP:0000178 | 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:0000178 | 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:0000178 | 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:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 291 | | |
HP:0000178 | 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:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | PUS7 CL E G H | 54517 | 26033 | OMIM:618342 | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | . | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | RAF1 CL E G H | 5894 | 9829 | OMIM:611554 | LEOPARD SYNDROME 2; LPRD2 | | | | 212 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 212 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000178 | 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:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | . | | | 572 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0000178 | 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:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | RPS23 CL E G H | 6228 | 10410 | OMIM:617412 | BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD | | | | 2 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | . | | | 65 | | |
HP:0000178 | 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:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:300844 | MENTAL RETARDATION, X-LINKED 19; MRX19 | | | | 65 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:300844 | MENTAL RETARDATION, X-LINKED 19; MRX19 | | | | 65 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:276630 | Symptomatic form of Coffin-Lowry syndrome in female carriers | HP:0040283 - Occasional | | | 65 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | . | | | 11 | | |
HP:0000178 | 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:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | SDR9C7 CL E G H | 121214 | 29958 | ORPHA:313 | Lamellar ichthyosis | HP:0040282 - Frequent | | | 2 | | |
HP:0000178 | 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:0000178 | 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:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | . | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2963 | Progeroid syndrome, Petty type | HP:0040281 - Very frequent | | | | | |
HP:0000178 | 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:0000178 | 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:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | . | | | 146 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | HP:0040281 - Very frequent | | | 146 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | . | | | 146 | | |
HP:0000178 | 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:0000178 | 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:0000178 | 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:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | SMARCC2 CL E G H | 6601 | 11105 | OMIM:618362 | Coffin-Siris syndrome 8 | . | | | 1 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | 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:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | | | | 47 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | | | | 2 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | . | | | 2 | | |
HP:0000178 | 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:0000178 | 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:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | HP:0040284 - Very rare | | | 19 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 315 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 30 | | |
HP:0000178 | 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:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | SOX11 CL E G H | 6664 | 11191 | OMIM:615866 | Mental retardation, autosomal dominant 27 | . | | | 14 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | SRCAP CL E G H | 10847 | 16974 | OMIM:619595 | DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA | | | | 138 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612713 | Kahrizi syndrome | . | | | 80 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | STRADA CL E G H | 92335 | 30172 | OMIM:611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | | | | 6 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | SULT2B1 CL E G H | 6820 | 11459 | ORPHA:313 | Lamellar ichthyosis | HP:0040282 - Frequent | | | 4 | | |
HP:0000178 | 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:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 271 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | . | | | 271 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | . | | | 22 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0000178 | HP:0000196 | Lower lip pit | 1 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | HP:0040281 - Very frequent | | | 104 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | TGM1 CL E G H | 7051 | 11777 | OMIM:242300 | Ichthyosis, congenital, autosomal recessive 1 | . | | | 98 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | TGM1 CL E G H | 7051 | 11777 | ORPHA:313 | Lamellar ichthyosis | HP:0040282 - Frequent | | | 98 | | |
HP:0000178 | HP:0010282 | Thin lower 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:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | TNPO2 CL E G H | 30000 | 19998 | OMIM:619556 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD | | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | UGDH CL E G H | 7358 | 12525 | OMIM:618792 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84 | | | | | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040282 - Frequent | | | 95 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040282 - Frequent | | | 136 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:893 | WAGR syndrome | HP:0040282 - Frequent | | | 177 | | |
HP:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | YY1 CL E G H | 7528 | 12856 | OMIM:617557 | Gabriele-De vries syndrome | . | | | 7 | | |
HP:0000178 | 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:0000178 | HP:0000179 | Thick lower lip vermilion | 1 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0000178 | 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:0000178 | 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 | | |
HP:0000178 | HP:0000232 | Everted lower lip vermilion | 1 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:617865 | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | . | | | 5 | | |