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:0000204 | HP:0000204 | Cleft upper lip | 0 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | HP:0040283 - Occasional | | | 72 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | ACTB CL E G H | 60 | 132 | OMIM:607371 | Dystonia, juvenile-onset | . | | | 72 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | | | | 9 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | . | | | 147 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | . | | | 145 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:2725 | Eye defects-arachnodactyly-cardiopathy syndrome | | | | 38 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 101 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612284 | Meckel syndrome, type 6 | HP:0040283 - Occasional | HP:0003577 - Congenital onset | | 247 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | CDH1 CL E G H | 999 | 1748 | ORPHA:1997 | Blepharo-cheilo-odontic syndrome | | | | 1003 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | CDH1 CL E G H | 999 | 1748 | OMIM:119580 | Blepharocheilodontic syndrome 1 | . | | | 1003 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | CDH1 CL E G H | 999 | 1748 | OMIM:137215 | Gastric cancer, hereditary diffuse | HP:0040283 - Occasional | | | 1003 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | | | | 200 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | | | | 200 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 200 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 200 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | CHUK CL E G H | 1147 | 1974 | OMIM:619339 | BARTSOCAS-PAPAS SYNDROME 2; BPS2 | | | | 3 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | . | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | COLEC10 CL E G H | 10584 | 2220 | OMIM:248340 | 3MC syndrome 3 | | | | 3 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | COLEC11 CL E G H | 78989 | 17213 | OMIM:265050 | 3mc syndrome 2 | . | | | 9 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | . | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 1 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 2 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | CTNND1 CL E G H | 1500 | 2515 | ORPHA:1997 | Blepharo-cheilo-odontic syndrome | | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | CYP26C1 CL E G H | 340665 | 20577 | ORPHA:398189 | Focal facial dermal dysplasia type IV | HP:0040282 - Frequent | | | 2 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DDX3X CL E G H | 1654 | 2745 | OMIM:300958 | MENTAL RETARDATION, X-LINKED 102; MRX102 | | | | 57 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | | | | 2 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | | | | 2 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DHODH CL E G H | 1723 | 2867 | ORPHA:246 | Postaxial acrofacial dysostosis | | | | 59 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DHODH CL E G H | 1723 | 2867 | OMIM:263750 | Postaxial acrofacial dysostosis | . | | | 59 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | | | | 22 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | | | | 22 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 22 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 22 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | | | | 3 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | | | | 3 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 3 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 3 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DLX4 CL E G H | 1748 | 2917 | OMIM:616788 | Orofacial cleft 15 | | | | 1 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 14 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 5 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | HP:0040283 - Occasional | | | 304 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 304 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | | | | 7 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:216100 | Cleft lip/palate with abnormal thumbs and microcephaly | . | | | 92 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | HP:0040282 - Frequent | | | 92 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 209 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 137 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FAM20C CL E G H | 56975 | 22140 | ORPHA:1832 | Lethal osteosclerotic bone dysplasia | | | | 35 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | HP:0040283 - Occasional | | | 62 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | . | | | 62 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FGF20 CL E G H | 26281 | 3677 | ORPHA:1848 | Renal agenesis, bilateral | | | | 2 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | | | | 17 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | | | | 17 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 17 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 17 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2117 | Hartsfield syndrome | | | | 172 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:615465 | Hartsfield syndrome | . | | | 172 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:147950 | Hypogonadotropic hypogonadism 2 with or without anosmia | . | | | 172 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | | | | 172 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 172 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040283 - Occasional | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | . | | | 233 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FOXC2 CL E G H | 2303 | 3801 | ORPHA:33001 | Lymphedema-distichiasis syndrome | HP:0040283 - Occasional | | | 20 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FOXC2 CL E G H | 2303 | 3801 | OMIM:153400 | Lymphedema-Distichiasis syndrome | | | | 20 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | | | | 48 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | | | | 48 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 48 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 48 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | . | | | 353 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | HP:0040283 - Occasional | | | 353 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | HP:0040283 - Occasional | | | 263 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | | | | 2 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | | | | 2 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 2 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 2 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GDF11 CL E G H | 10220 | 4216 | OMIM:619122 | VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO | | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GFRA1 CL E G H | 2674 | 4243 | ORPHA:1848 | Renal agenesis, bilateral | | | | 1 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | . | | | 68 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | | | | 173 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 173 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:615849 | Culler-Jones syndrome | HP:0040283 - Occasional | | | 173 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | | | | 173 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 173 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 173 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | 73 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GREB1L CL E G H | 80000 | 31042 | ORPHA:1848 | Renal agenesis, bilateral | | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GRHL3 CL E G H | 57822 | 25839 | ORPHA:888 | Van der Woude syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GRHL3 CL E G H | 57822 | 25839 | OMIM:606713 | Van der woude syndrome 2 | . | | | 12 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | HP:0040283 - Occasional | | | 80 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 21 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | | | | 25 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:2189 | Hydrolethalus | | | | 31 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 65 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040283 - Occasional | | | 119 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:1300 | Autosomal dominant popliteal pterygium syndrome | | | | 99 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199302 | Isolated cleft lip | | | | 99 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | IRF6 CL E G H | 3664 | 6121 | OMIM:608864 | Orofacial cleft 6, susceptibility to | . | | | 99 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | IRF6 CL E G H | 3664 | 6121 | OMIM:119500 | Popliteal pterygium syndrome | . | | | 99 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:888 | Van der Woude syndrome | HP:0040283 - Occasional | | | 99 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | IRF6 CL E G H | 3664 | 6121 | OMIM:119300 | van der Woude syndrome 1 | . | | | 99 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | ITGA8 CL E G H | 8516 | 6144 | ORPHA:1848 | Renal agenesis, bilateral | | | | 4 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | JUP CL E G H | 3728 | 6207 | ORPHA:34217 | Naxos disease | HP:0040282 - Frequent | | | 222 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | . | | | 283 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2189 | Hydrolethalus | | | | 167 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 2 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 43 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | . | | | 165 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | . | | | 21 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | . | | | 228 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | . | | | 7 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | MEOX1 CL E G H | 4222 | 7013 | OMIM:214300 | Klippel-Feil syndrome, autosomal recessive | . | | | 5 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | . | | | 57 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199302 | Isolated cleft lip | | | | 12 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | MSX1 CL E G H | 4487 | 7391 | OMIM:608874 | OROFACIAL CLEFT 5; OFC5 | | | | 12 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | MSX2 CL E G H | 4488 | 7392 | OMIM:168500 | Parietal foramina | . | | | 45 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 23 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | NBN CL E G H | 4683 | 7652 | ORPHA:647 | Nijmegen breakage syndrome | | | | 706 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | . | | | 706 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | NECTIN1 CL E G H | 5818 | 9706 | OMIM:225060 | Cleft lip/palate-ectodermal dysplasia syndrome | . | | | 4 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199302 | Isolated cleft lip | | | | 4 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | | | | 101 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | | | | 101 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | | | | 45 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | | | | 45 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 45 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 45 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 118 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 118 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | . | | | 34 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | NUAK2 CL E G H | 81788 | 29558 | OMIM:619452 | ANENCEPHALY 2; ANPH2 | | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | | | | 201 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | | | | 201 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 41 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | HP:0040283 - Occasional | | | 59 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | PHF8 CL E G H | 23133 | 20672 | ORPHA:85287 | X-linked intellectual disability, Siderius type | HP:0040281 - Very frequent | | | 23 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | . | | | 37 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | PIGV CL E G H | 55650 | 26031 | OMIM:239300 | Hyperphosphatasia with mental retardation | | | | 57 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | | | | 221 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 36 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | PROKR2 CL E G H | 128674 | 15836 | OMIM:244200 | Hypogonadotropic hypogonadism 3 with or without anosmia | . | | | 34 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 54 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | | | | 665 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | | | | 665 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 665 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 665 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | RAB5IF CL E G H | 55969 | 15870 | OMIM:616994 | | | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | RET CL E G H | 5979 | 9967 | ORPHA:1848 | Renal agenesis, bilateral | | | | 572 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1234 | Bartsocas-Papas syndrome | | | | 69 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611561 | Meckel syndrome, type 5 | . | | | 167 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | RPL5 CL E G H | 6125 | 10360 | OMIM:612561 | Diamond-Blackfan anemia 6 | | | | 40 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618021 | Tetraamelia syndrome 2 | | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | . | | | 2 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | . | | | 49 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:245 | Nager syndrome | | | | 49 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | | | | 67 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | | | | 67 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 67 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 67 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SHH CL E G H | 6469 | 10848 | OMIM:147250 | Solitary median maxillary central incisor | | | | 67 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | | | | 32 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | | | | 32 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | | | | 32 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 32 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 32 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | | | | 178 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | | | | 504 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 135 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | | | | 22 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040282 - Frequent | | | 15 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | . | | | 15 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SPECC1L CL E G H | 23384 | 29022 | OMIM:600251 | Facial clefting, oblique, 1 | . | | | 6 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | | | | 1 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 1 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | | | | 99 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | | | | 99 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 99 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 99 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | SUMO1 CL E G H | 7341 | 12502 | OMIM:613705 | Orofacial cleft 10 | | | | 8 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | | | | 2 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TCTN2 CL E G H | 79867 | 25774 | OMIM:613885 | Meckel syndrome, type 8 | . | | | 76 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | | | | 31 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | | | | 1 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | | | | 1 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 1 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 1 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | | | | 12 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TGDS CL E G H | 23483 | 20324 | OMIM:616145 | Catel-Manzke syndrome | . | | | 6 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | | | | 32 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TGIF1 CL E G H | 7050 | 11776 | OMIM:142946 | Holoprosencephaly 4 | | | | 32 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | | | | 32 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 32 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 32 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TMCO1 CL E G H | 54499 | 18188 | ORPHA:1394 | Cerebrofaciothoracic dysplasia | HP:0040283 - Occasional | | | 6 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | . | | | 6 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:1072 | Ankyloblepharon filiforme adnatum-cleft palate syndrome | | | | 140 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | . | | | 140 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:199302 | Isolated cleft lip | | | | 140 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | . | | | 140 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TRAPPC9 CL E G H | 83696 | 30832 | OMIM:613192 | Mental retardation, autosomal recessive 13 | HP:0040283 - Occasional | | | 158 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | TXNL4A CL E G H | 10907 | 30551 | OMIM:608572 | Burn-Mckeown syndrome | . | | | 19 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | VAX1 CL E G H | 11023 | 12660 | OMIM:614402 | Microphthalmia, syndromic 11 | . | | | 5 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 136 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | WNT3 CL E G H | 7473 | 12782 | OMIM:273395 | Tetraamelia, autosomal recessive | . | | | 12 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 98 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | WNT9B CL E G H | 7484 | 12779 | ORPHA:1848 | Renal agenesis, bilateral | | | | | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | YAP1 CL E G H | 10413 | 16262 | OMIM:120433 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation | HP:0040283 - Occasional | | | 2 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | YAP1 CL E G H | 10413 | 16262 | ORPHA:1473 | Uveal coloboma-cleft lip and palate-intellectual disability | | | | 2 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | | | | 34 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | | | | 34 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 34 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 34 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:603671 | Acromelic frontonasal dysostosis | . | | | 5 | | |
HP:0000204 | HP:0000204 | Cleft upper lip | 0 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | | | | 5 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | . | | | 9 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:2725 | Eye defects-arachnodactyly-cardiopathy syndrome | HP:0040281 - Very frequent | | | 38 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | CDH1 CL E G H | 999 | 1748 | ORPHA:1997 | Blepharo-cheilo-odontic syndrome | | | | 1003 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | CHUK CL E G H | 1147 | 1974 | OMIM:619339 | BARTSOCAS-PAPAS SYNDROME 2; BPS2 | | | | 3 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0000204 | HP:0011340 | Incomplete cleft of the upper lip | 1 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | CTNND1 CL E G H | 1500 | 2515 | ORPHA:1997 | Blepharo-cheilo-odontic syndrome | | | | | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | HP:0040283 - Occasional | | | 2 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | HP:0040281 - Very frequent | | | 2 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | . | | | 2 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | DHODH CL E G H | 1723 | 2867 | ORPHA:246 | Postaxial acrofacial dysostosis | HP:0040282 - Frequent | | | 59 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | DLX4 CL E G H | 1748 | 2917 | OMIM:616788 | Orofacial cleft 15 | | | | 1 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 14 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 5 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | | | | 7 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | FAM20C CL E G H | 56975 | 22140 | ORPHA:1832 | Lethal osteosclerotic bone dysplasia | | | | 35 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | FGF20 CL E G H | 26281 | 3677 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040283 - Occasional | | | 2 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2117 | Hartsfield syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | GDF11 CL E G H | 10220 | 4216 | OMIM:619122 | VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO | | | | | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | GFRA1 CL E G H | 2674 | 4243 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040283 - Occasional | | | 1 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040283 - Occasional | | | 68 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040282 - Frequent | | | 68 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 173 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0000204 | HP:0009101 | Submucous cleft lip | 1 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0000204 | HP:0009101 | Submucous cleft lip | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | GREB1L CL E G H | 80000 | 31042 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040283 - Occasional | | | | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 21 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | HP:0040283 - Occasional | | | 25 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:2189 | Hydrolethalus | | | | 31 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | . | | | 31 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | IRF6 CL E G H | 3664 | 6121 | ORPHA:1300 | Autosomal dominant popliteal pterygium syndrome | HP:0040282 - Frequent | | | 99 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199302 | Isolated cleft lip | HP:0040282 - Frequent | | | 99 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | ITGA8 CL E G H | 8516 | 6144 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040283 - Occasional | | | 4 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2189 | Hydrolethalus | | | | 167 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 43 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | | | | 57 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199302 | Isolated cleft lip | HP:0040282 - Frequent | | | 12 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | NBN CL E G H | 4683 | 7652 | ORPHA:647 | Nijmegen breakage syndrome | HP:0040283 - Occasional | | | 706 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | | | | 4 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199302 | Isolated cleft lip | HP:0040282 - Frequent | | | 4 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040282 - Frequent | | | 101 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | . | | | 101 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | NUAK2 CL E G H | 81788 | 29558 | OMIM:619452 | ANENCEPHALY 2; ANPH2 | | | | | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | . | | | 201 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040281 - Very frequent | | | 201 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 41 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 36 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 54 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | RAB5IF CL E G H | 55969 | 15870 | OMIM:616994 | | | | | | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | RET CL E G H | 5979 | 9967 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040283 - Occasional | | | 572 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1234 | Bartsocas-Papas syndrome | HP:0040281 - Very frequent | | | 69 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618021 | Tetraamelia syndrome 2 | | | | | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:245 | Nager syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | | | | 32 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | | | | 32 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | | | | 178 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | | | | 504 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 135 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | . | | | 22 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | SUMO1 CL E G H | 7341 | 12502 | OMIM:613705 | Orofacial cleft 10 | | | | 8 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | | | | 2 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040281 - Very frequent | | | 31 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | TGIF1 CL E G H | 7050 | 11776 | OMIM:142946 | Holoprosencephaly 4 | . | | | 32 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:1072 | Ankyloblepharon filiforme adnatum-cleft palate syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:199302 | Isolated cleft lip | HP:0040282 - Frequent | | | 140 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 98 | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | WNT9B CL E G H | 7484 | 12779 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040283 - Occasional | | | | | |
HP:0000204 | HP:0100335 | Non-midline cleft lip | 1 | YAP1 CL E G H | 10413 | 16262 | ORPHA:1473 | Uveal coloboma-cleft lip and palate-intellectual disability | | | | 2 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0000204 | HP:0000161 | Median cleft lip | 1 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | HP:0040282 - Frequent | | | 5 | | |
HP:0000204 | HP:0100336 | Bilateral cleft lip | 2 | CDH1 CL E G H | 999 | 1748 | ORPHA:1997 | Blepharo-cheilo-odontic syndrome | | | | 1003 | | |
HP:0000204 | HP:0100336 | Bilateral cleft lip | 2 | CHUK CL E G H | 1147 | 1974 | OMIM:619339 | BARTSOCAS-PAPAS SYNDROME 2; BPS2 | | | | 3 | | |
HP:0000204 | HP:0100336 | Bilateral cleft lip | 2 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0000204 | HP:0100336 | Bilateral cleft lip | 2 | CTNND1 CL E G H | 1500 | 2515 | ORPHA:1997 | Blepharo-cheilo-odontic syndrome | | | | | | |
HP:0000204 | HP:0100336 | Bilateral cleft lip | 2 | DLX4 CL E G H | 1748 | 2917 | OMIM:616788 | Orofacial cleft 15 | | | | 1 | | |
HP:0000204 | HP:0008501 | Median cleft lip and palate | 2 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0000204 | HP:0008501 | Median cleft lip and palate | 2 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000204 | HP:0008501 | Median cleft lip and palate | 2 | FAM20C CL E G H | 56975 | 22140 | ORPHA:1832 | Lethal osteosclerotic bone dysplasia | HP:0040281 - Very frequent | | | 35 | | |
HP:0000204 | HP:0008501 | Median cleft lip and palate | 2 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | | | |
HP:0000204 | HP:0008501 | Median cleft lip and palate | 2 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | | | |
HP:0000204 | HP:0100333 | Unilateral cleft lip | 2 | GDF11 CL E G H | 10220 | 4216 | OMIM:619122 | VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO | | | | | | |
HP:0000204 | HP:0008501 | Median cleft lip and palate | 2 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 173 | | |
HP:0000204 | HP:0100336 | Bilateral cleft lip | 2 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0000204 | HP:0034185 | Median pseudocleft lip | 2 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0000204 | HP:0008501 | Median cleft lip and palate | 2 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 21 | | |
HP:0000204 | HP:0100333 | Unilateral cleft lip | 2 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:2189 | Hydrolethalus | HP:0040282 - Frequent | | | 31 | | |
HP:0000204 | HP:0100336 | Bilateral cleft lip | 2 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199302 | Isolated cleft lip | HP:0040283 - Occasional | | | 99 | | |
HP:0000204 | HP:0100333 | Unilateral cleft lip | 2 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0000204 | HP:0100333 | Unilateral cleft lip | 2 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2189 | Hydrolethalus | HP:0040282 - Frequent | | | 167 | | |
HP:0000204 | HP:0008501 | Median cleft lip and palate | 2 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 43 | | |
HP:0000204 | HP:0100336 | Bilateral cleft lip | 2 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0000204 | HP:0100333 | Unilateral cleft lip | 2 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0000204 | HP:0100333 | Unilateral cleft lip | 2 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | | | | 57 | | |
HP:0000204 | HP:0100336 | Bilateral cleft lip | 2 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199302 | Isolated cleft lip | HP:0040283 - Occasional | | | 12 | | |
HP:0000204 | HP:0100336 | Bilateral cleft lip | 2 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | | | | 4 | | |
HP:0000204 | HP:0100336 | Bilateral cleft lip | 2 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199302 | Isolated cleft lip | HP:0040283 - Occasional | | | 4 | | |
HP:0000204 | HP:0008501 | Median cleft lip and palate | 2 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 41 | | |
HP:0000204 | HP:0008501 | Median cleft lip and palate | 2 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 36 | | |
HP:0000204 | HP:0008501 | Median cleft lip and palate | 2 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 54 | | |
HP:0000204 | HP:0008501 | Median cleft lip and palate | 2 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0000204 | HP:0100336 | Bilateral cleft lip | 2 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0000204 | HP:0100336 | Bilateral cleft lip | 2 | RAB5IF CL E G H | 55969 | 15870 | OMIM:616994 | | | | | | | |
HP:0000204 | HP:0100336 | Bilateral cleft lip | 2 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618021 | Tetraamelia syndrome 2 | . | | | | | |
HP:0000204 | HP:0100336 | Bilateral cleft lip | 2 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | | | | 32 | | |
HP:0000204 | HP:0008501 | Median cleft lip and palate | 2 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | . | | | 32 | | |
HP:0000204 | HP:0008501 | Median cleft lip and palate | 2 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0000204 | HP:0100333 | Unilateral cleft lip | 2 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | HP:0040283 - Occasional | | | 504 | | |
HP:0000204 | HP:0100336 | Bilateral cleft lip | 2 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0000204 | HP:0100336 | Bilateral cleft lip | 2 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0000204 | HP:0100333 | Unilateral cleft lip | 2 | SUMO1 CL E G H | 7341 | 12502 | OMIM:613705 | Orofacial cleft 10 | . | | | 8 | | |
HP:0000204 | HP:0100333 | Unilateral cleft lip | 2 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | | | | 2 | | |
HP:0000204 | HP:0008501 | Median cleft lip and palate | 2 | TGIF1 CL E G H | 7050 | 11776 | OMIM:142946 | Holoprosencephaly 4 | . | | | 32 | | |
HP:0000204 | HP:0100336 | Bilateral cleft lip | 2 | TP63 CL E G H | 8626 | 15979 | ORPHA:199302 | Isolated cleft lip | HP:0040283 - Occasional | | | 140 | | |
HP:0000204 | HP:0034185 | Median pseudocleft lip | 2 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0000204 | HP:0008501 | Median cleft lip and palate | 2 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0000204 | HP:0100336 | Bilateral cleft lip | 2 | YAP1 CL E G H | 10413 | 16262 | ORPHA:1473 | Uveal coloboma-cleft lip and palate-intellectual disability | | | | 2 | | |
HP:0000204 | HP:0002744 | Bilateral cleft lip and palate | 3 | CDH1 CL E G H | 999 | 1748 | ORPHA:1997 | Blepharo-cheilo-odontic syndrome | HP:0040281 - Very frequent | | | 1003 | | |
HP:0000204 | HP:0002744 | Bilateral cleft lip and palate | 3 | CHUK CL E G H | 1147 | 1974 | OMIM:619339 | BARTSOCAS-PAPAS SYNDROME 2; BPS2 | | | | 3 | | |
HP:0000204 | HP:0002744 | Bilateral cleft lip and palate | 3 | CTNND1 CL E G H | 1500 | 2515 | ORPHA:1997 | Blepharo-cheilo-odontic syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000204 | HP:0002744 | Bilateral cleft lip and palate | 3 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0000204 | HP:0002744 | Bilateral cleft lip and palate | 3 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0000204 | HP:0002744 | Bilateral cleft lip and palate | 3 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000204 | HP:0002744 | Bilateral cleft lip and palate | 3 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0000204 | HP:0002744 | Bilateral cleft lip and palate | 3 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | | | | 32 | | |
HP:0000204 | HP:0002744 | Bilateral cleft lip and palate | 3 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0000204 | HP:0002744 | Bilateral cleft lip and palate | 3 | YAP1 CL E G H | 10413 | 16262 | ORPHA:1473 | Uveal coloboma-cleft lip and palate-intellectual disability | HP:0040282 - Frequent | | | 2 | | |