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:0012472 | HP:0012472 | Eclabion | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:457 | Harlequin ichthyosis | HP:0040282 - Frequent | | | 130 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ABCA12 CL E G H | 26154 | 14637 | OMIM:242500 | Ichthyosis, congenital, autosomal recessive 4B | | | | 130 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:313 | Lamellar ichthyosis | | | | 130 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ABHD5 CL E G H | 51099 | 21396 | OMIM:275630 | Chanarin-Dorfman syndrome | | | | 90 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | HP:0040282 - Frequent | | | 90 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | | | | 165 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ADNP CL E G H | 23394 | 15766 | OMIM:615873 | Helsmoortel-van der Aa syndrome | | | | 47 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ALOX12B CL E G H | 242 | 430 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | | | | 75 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ALOX12B CL E G H | 242 | 430 | ORPHA:313 | Lamellar ichthyosis | | | | 75 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | | | | 63 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:606545 | Ichthyosis, congenital, autosomal recessive 3 | HP:0040283 - Occasional | | | 63 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:313 | Lamellar ichthyosis | | | | 63 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | | | | 8 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 49 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 48 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 41 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 18 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ASPRV1 CL E G H | 151516 | 26321 | ORPHA:313 | Lamellar ichthyosis | | | | 1 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | | | | 49 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | | | | 169 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | AXIN2 CL E G H | 8313 | 904 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 435 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | BCAS3 CL E G H | 54828 | 14347 | OMIM:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS | | | | 2 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | BCL11A CL E G H | 53335 | 13221 | OMIM:617101 | Intellectual developmental disorder with persistence of fetal hemoglobin | | | | 11 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | BDNF CL E G H | 627 | 1033 | ORPHA:893 | WAGR syndrome | | | | 5 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | | | | 13 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | CCDC8 CL E G H | 83987 | 25367 | ORPHA:2616 | 3M syndrome | | | | 5 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:619736 | TEEBI HYPERTELORISM SYNDROME 2; TBHS2 | | | | 2 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | | | | 405 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | CERS3 CL E G H | 204219 | 23752 | OMIM:615023 | Ichthyosis, congenital, autosomal recessive 9 | | | | 5 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | | | | 16 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | CLIC2 CL E G H | 1193 | 2063 | ORPHA:324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | | | | 4 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | CUL7 CL E G H | 9820 | 21024 | ORPHA:2616 | 3M syndrome | | | | 127 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | CYP4F22 CL E G H | 126410 | 26820 | ORPHA:313 | Lamellar ichthyosis | | | | 54 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | DHX30 CL E G H | 22907 | 16716 | OMIM:617804 | Neurodevelopmental disorder with severe motor impairment and absent language | | | | 4 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | DNMT3A CL E G H | 1788 | 2978 | OMIM:615879 | Tatton-Brown-Rahman syndrome | | | | 44 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | DOCK7 CL E G H | 85440 | 19190 | ORPHA:411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | | | | 11 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | | | | 115 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 115 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | | | | 115 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | EDA2R CL E G H | 60401 | 17756 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | | | | 11 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 86 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 56 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:614940 | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | | | | 56 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 56 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 56 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | EDNRA CL E G H | 1909 | 3179 | OMIM:616367 | Mandibulofacial dysostosis with alopecia | | | | 3 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | | | | 60 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | | | | 223 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | | | | 20 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | | | | 106 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | | | | 83 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | | | | 199 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | | | | 384 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | FBXO11 CL E G H | 80204 | 13590 | OMIM:618089 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | | | | 7 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 172 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | | | | 68 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:782 | Axenfeld-Rieger syndrome | | | | 63 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | | | | 177 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | FRMD4A CL E G H | 55691 | 25491 | OMIM:616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | | | | 1 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | | | | 86 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:137550 | Melanocytic nevus syndrome, congenital | | | | 113 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | | | | 345 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | | | | 115 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93474 | Scheie syndrome | | | | 115 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 11 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:614099 | Cranioectodermal dysplasia 3 | | | | 11 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 4 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | IGF1R CL E G H | 3480 | 5465 | ORPHA:73273 | Growth delay due to insulin-like growth factor I resistance | | | | 268 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 99 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | | | | 4 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | | | | 283 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | | | | 283 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | | | | 13 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | KMT2C CL E G H | 58508 | 13726 | OMIM:617768 | Kleefstra syndrome 2 | | | | 99 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | LIPN CL E G H | 643418 | 23452 | ORPHA:313 | Lamellar ichthyosis | | | | 1 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | LRP6 CL E G H | 4040 | 6698 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 26 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | HP:0040284 - Very rare | | | 93 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | MAP1B CL E G H | 4131 | 6836 | OMIM:618918 | PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9 | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | | | | 252 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | MCOLN1 CL E G H | 57192 | 13356 | ORPHA:578 | Mucolipidosis type IV | | | | 78 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | MDH1 CL E G H | 4190 | 6970 | OMIM:618959 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88 | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:1762 | Proximal Xq28 duplication syndrome | | | | 950 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | | | | 74 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | MED25 CL E G H | 81857 | 28845 | OMIM:616449 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | | | | 39 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:2228 | Hypodontia-dysplasia of nails syndrome | | | | 12 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 12 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | | | | 35 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | MYO18B CL E G H | 84700 | 18150 | OMIM:616549 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | | | | 5 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:276432 | Ogden syndrome | | | | 23 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | . | | | 40 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:614753 | Sotos syndrome 2 | | | | 40 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:313 | Lamellar ichthyosis | | | | 60 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:137550 | Melanocytic nevus syndrome, congenital | | | | 102 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | OBSL1 CL E G H | 23363 | 29092 | ORPHA:2616 | 3M syndrome | | | | 143 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | | | | 88 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:893 | WAGR syndrome | | | | 194 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | PAX9 CL E G H | 5083 | 8623 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 58 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | PCDHGC4 CL E G H | 56098 | 8717 | OMIM:619880 | | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | PITX2 CL E G H | 5308 | 9005 | ORPHA:782 | Axenfeld-Rieger syndrome | | | | 51 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | | | | 180 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | PUS7 CL E G H | 54517 | 26033 | OMIM:618342 | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | | | | 90 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | | | | 135 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | | | | 3 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | . | | | 43 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | | | | 10 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | | | | 65 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | | | | 65 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:300844 | MENTAL RETARDATION, X-LINKED 19; MRX19 | | | | 65 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:276630 | Symptomatic form of Coffin-Lowry syndrome in female carriers | | | | 65 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | SDR9C7 CL E G H | 121214 | 29958 | ORPHA:313 | Lamellar ichthyosis | | | | 2 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | SETD1A CL E G H | 9739 | 29010 | OMIM:619056 | NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID | | | | 6 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2963 | Progeroid syndrome, Petty type | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | | | | 2 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | | | | 19 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | SOX11 CL E G H | 6664 | 11191 | OMIM:615866 | Mental retardation, autosomal dominant 27 | | | | 14 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | | | | 6 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:619595 | DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA | | | | 138 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | SULT2B1 CL E G H | 6820 | 11459 | ORPHA:313 | Lamellar ichthyosis | | | | 4 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | SUMO1 CL E G H | 7341 | 12502 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 8 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | | | | 22 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | | | | 22 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | | | | 12 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | | | | 104 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | TGFA CL E G H | 7039 | 11765 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:100976 | Bathing suit ichthyosis | HP:0040282 - Frequent | | | 98 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | TGM1 CL E G H | 7051 | 11777 | OMIM:242300 | Ichthyosis, congenital, autosomal recessive 1 | | | | 98 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:313 | Lamellar ichthyosis | | | | 98 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | TNPO2 CL E G H | 30000 | 19998 | OMIM:619556 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 95 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | | | | 8 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 136 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | | | | 136 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 71 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | WNT10B CL E G H | 7480 | 12775 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 4 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:893 | WAGR syndrome | | | | 177 | | |
HP:0012472 | HP:0012472 | Eclabion | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:617865 | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | | | | 5 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | ABCA12 CL E G H | 26154 | 14637 | OMIM:242500 | Ichthyosis, congenital, autosomal recessive 4B | . | | | 130 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:313 | Lamellar ichthyosis | HP:0040282 - Frequent | | | 130 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | ABHD5 CL E G H | 51099 | 21396 | OMIM:275630 | Chanarin-Dorfman syndrome | . | | | 90 | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | ADNP CL E G H | 23394 | 15766 | OMIM:615873 | Helsmoortel-van der Aa syndrome | | | | 47 | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | ALOX12B CL E G H | 242 | 430 | ORPHA:313 | Lamellar ichthyosis | HP:0040282 - Frequent | | | 75 | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:313 | Lamellar ichthyosis | HP:0040282 - Frequent | | | 63 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040283 - Occasional | | | 49 | | |
HP:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040283 - Occasional | | | 48 | | |
HP:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040283 - Occasional | | | 41 | | |
HP:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040283 - Occasional | | | 18 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | ASPRV1 CL E G H | 151516 | 26321 | ORPHA:313 | Lamellar ichthyosis | HP:0040282 - Frequent | | | 1 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | BCAS3 CL E G H | 54828 | 14347 | OMIM:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS | | | | 2 | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | BDNF CL E G H | 627 | 1033 | ORPHA:893 | WAGR syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | CCDC8 CL E G H | 83987 | 25367 | ORPHA:2616 | 3M syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | CDH11 CL E G H | 1009 | 1750 | OMIM:619736 | TEEBI HYPERTELORISM SYNDROME 2; TBHS2 | | | | 2 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | HP:0040282 - Frequent | | | 405 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | . | | | 16 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | CUL7 CL E G H | 9820 | 21024 | ORPHA:2616 | 3M syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | CYP4F22 CL E G H | 126410 | 26820 | ORPHA:313 | Lamellar ichthyosis | HP:0040282 - Frequent | | | 54 | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | DNMT3A CL E G H | 1788 | 2978 | OMIM:615879 | Tatton-Brown-Rahman syndrome | | | | 44 | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | EDA CL E G H | 1896 | 3157 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 115 | | |
HP:0012472 | 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:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | EDA2R CL E G H | 60401 | 17756 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 11 | | |
HP:0012472 | 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:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | EDAR CL E G H | 10913 | 2895 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 86 | | |
HP:0012472 | 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:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | EDARADD CL E G H | 128178 | 14341 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0012472 | 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:0012472 | 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:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | EDNRA CL E G H | 1909 | 3179 | OMIM:616367 | Mandibulofacial dysostosis with alopecia | . | | | 3 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | . | | | 60 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 199 | | |
HP:0012472 | 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:0012472 | 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:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | . | | | 68 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040282 - Frequent | | | 63 | | |
HP:0012472 | 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:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0012472 | 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:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | . | | | 86 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | HRAS CL E G H | 3265 | 5173 | OMIM:137550 | Melanocytic nevus syndrome, congenital | . | | | 113 | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040282 - Frequent | | | 115 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | IDUA CL E G H | 3425 | 5391 | ORPHA:93474 | Scheie syndrome | HP:0040282 - Frequent | | | 115 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040282 - Frequent | | | 93 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040282 - Frequent | | | 11 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | IFT43 CL E G H | 112752 | 29669 | OMIM:614099 | Cranioectodermal dysplasia 3 | HP:0040283 - Occasional | | | 11 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040282 - Frequent | | | 4 | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | | | | 4 | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0012472 | 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:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | . | | | | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | . | | | | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | KMT2C CL E G H | 58508 | 13726 | OMIM:617768 | Kleefstra syndrome 2 | | | | 99 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | LIPN CL E G H | 643418 | 23452 | ORPHA:313 | Lamellar ichthyosis | HP:0040282 - Frequent | | | 1 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | MAP1B CL E G H | 4131 | 6836 | OMIM:618918 | PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9 | | | | | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | MCOLN1 CL E G H | 57192 | 13356 | ORPHA:578 | Mucolipidosis type IV | HP:0040283 - Occasional | | | 78 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | MDH1 CL E G H | 4190 | 6970 | OMIM:618959 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88 | | | | | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0012472 | 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:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | MED25 CL E G H | 81857 | 28845 | OMIM:616449 | Basel-Vanagaite-Smirin-Yosef syndrome | . | | | 43 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | . | | | 39 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | . | | | 35 | | |
HP:0012472 | 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:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | NAA10 CL E G H | 8260 | 18704 | ORPHA:276432 | Ogden syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | . | | | 23 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:614753 | Sotos syndrome 2 | . | | | 40 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:313 | Lamellar ichthyosis | HP:0040282 - Frequent | | | 60 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:137550 | Melanocytic nevus syndrome, congenital | . | | | 102 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | OBSL1 CL E G H | 23363 | 29092 | ORPHA:2616 | 3M syndrome | HP:0040281 - Very frequent | | | 143 | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | PAX6 CL E G H | 5080 | 8620 | ORPHA:893 | WAGR syndrome | HP:0040282 - Frequent | | | 194 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | PCDHGC4 CL E G H | 56098 | 8717 | OMIM:619880 | | | | | | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | PITX2 CL E G H | 5308 | 9005 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | HP:0040282 - Frequent | | | | | |
HP:0012472 | 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:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0012472 | 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:0012472 | 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:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012472 | 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:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | . | | | 65 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:300844 | MENTAL RETARDATION, X-LINKED 19; MRX19 | | | | 65 | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | . | | | 11 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | SDR9C7 CL E G H | 121214 | 29958 | ORPHA:313 | Lamellar ichthyosis | HP:0040282 - Frequent | | | 2 | | |
HP:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | SETD1A CL E G H | 9739 | 29010 | OMIM:619056 | NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID | | | | 6 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | . | | | | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | . | | | 146 | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | | | | 2 | | |
HP:0012472 | 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:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | SOX11 CL E G H | 6664 | 11191 | OMIM:615866 | Mental retardation, autosomal dominant 27 | . | | | 14 | | |
HP:0012472 | 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:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | SULT2B1 CL E G H | 6820 | 11459 | ORPHA:313 | Lamellar ichthyosis | HP:0040282 - Frequent | | | 4 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | . | | | 271 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | . | | | 22 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | HP:0040281 - Very frequent | | | 104 | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | TGM1 CL E G H | 7051 | 11777 | OMIM:242300 | Ichthyosis, congenital, autosomal recessive 1 | . | | | 98 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | TGM1 CL E G H | 7051 | 11777 | ORPHA:313 | Lamellar ichthyosis | HP:0040282 - Frequent | | | 98 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012472 | 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:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040282 - Frequent | | | 95 | | |
HP:0012472 | HP:0010803 | Everted upper lip vermilion | 1 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040282 - Frequent | | | 136 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0012472 | HP:0000232 | Everted lower lip vermilion | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:893 | WAGR syndrome | HP:0040282 - Frequent | | | 177 | | |
HP:0012472 | 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 | | |