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:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | HP:0040282 - Frequent | | | | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | ALDH6A1 CL E G H | 4329 | 7179 | OMIM:614105 | Methylmalonate semialdehyde dehydrogenase deficiency | . | | | 35 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | | | | 102 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | HP:0040282 - Frequent | | | 169 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:618056 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | . | | | 20 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | . | | | 16 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | | | | 19 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619517 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA | | | | 2 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | | | | 149 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | CYFIP2 CL E G H | 26999 | 13760 | OMIM:618008 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65 | | | | 1 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | . | | | 27 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | DEAF1 CL E G H | 10522 | 14677 | OMIM:615828 | Mental retardation, autosomal dominant 24 | . | | | 33 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | . | | | 164 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | DMPK CL E G H | 1760 | 2933 | ORPHA:589821 | Congenital-onset Steinert myotonic dystrophy | | | | 152 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | . | | | 60 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | HP:0040281 - Very frequent | | | 177 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | GNAI1 CL E G H | 2770 | 4384 | OMIM:619854 | | | | | | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | HP:0040282 - Frequent | | | | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | HOXB1 CL E G H | 3211 | 5111 | OMIM:614744 | Facial paresis, hereditary congenital, 3 | | | | 2 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | IER3IP1 CL E G H | 51124 | 18550 | OMIM:614231 | Microcephaly, epilepsy, and diabetes syndrome | . | | | 6 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | IL1RAPL1 CL E G H | 11141 | 5996 | OMIM:300143 | Mental retardation, X-linked 21 | . | | | 42 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | KCNJ6 CL E G H | 3763 | 6267 | OMIM:614098 | Keppen-Lubinsky syndrome | . | | | 3 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | KCNK9 CL E G H | 51305 | 6283 | OMIM:612292 | BIRK-BAREL SYNDROME | | | | 4 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | HP:0040282 - Frequent | | | 4 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | HP:0040282 - Frequent | | | 252 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | . | | | 950 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:1762 | Proximal Xq28 duplication syndrome | HP:0040281 - Very frequent | | | 950 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | MED25 CL E G H | 81857 | 28845 | OMIM:616449 | Basel-Vanagaite-Smirin-Yosef syndrome | . | | | 43 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | . | | | 7 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | MESD CL E G H | 23184 | 13520 | OMIM:618644 | OSTEOGENESIS IMPERFECTA, TYPE XX; OI20 | | | | | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | MSL3 CL E G H | 10943 | 7370 | OMIM:301032 | BASILICATA-AKHTAR SYNDROME; MRXSBA | | | | | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | NCAPG2 CL E G H | 54892 | 21904 | OMIM:618460 | Khan-Khan-Katsanis syndrome | . | | | 2 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:85277 | X-linked intellectual disability, Cantagrel type | HP:0040281 - Very frequent | | | 52 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | NSRP1 CL E G H | 84081 | 25305 | OMIM:620001 | | | | | | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | HP:0040282 - Frequent | | | 59 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:896 | Waardenburg syndrome type 3 | HP:0040281 - Very frequent | | | 59 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PGAP2 CL E G H | 27315 | 17893 | OMIM:614207 | Hyperphosphatasia with mental retardation syndrome 3 | . | | | 8 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PGAP3 CL E G H | 93210 | 23719 | OMIM:615716 | Hyperphosphatasia with mental retardation syndrome 4 | . | | | 20 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 20 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PIGO CL E G H | 84720 | 23215 | OMIM:614749 | Hyperphosphatasia with mental retardation syndrome 2 | | | | 84 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 84 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PIGV CL E G H | 55650 | 26031 | OMIM:239300 | Hyperphosphatasia with mental retardation | . | | | 57 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PIGW CL E G H | 284098 | 23213 | OMIM:616025 | Glycosylphosphatidylinositol biosynthesis defect 11 | . | | | 6 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | . | | | 3 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | HP:0040282 - Frequent | | | 3 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PPP2R1A CL E G H | 5518 | 9302 | OMIM:616362 | Mental retardation, autosomal dominant 36 | . | | | 13 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PREPL CL E G H | 9581 | 30228 | OMIM:616224 | Myasthenic syndrome, congenital, 22 | . | | | 7 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PURA CL E G H | 5813 | 9701 | OMIM:616158 | Mental retardation, autosomal dominant 31 | | | | 53 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:438216 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | HP:0040283 - Occasional | | | 53 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:314655 | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | HP:0040282 - Frequent | | | 53 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | RAB11B CL E G H | 9230 | 9761 | OMIM:617807 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | . | | | | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:618388 | FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2 | | | | 73 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 120 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | . | | | 2 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | HP:0040283 - Occasional | | | 1200 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | . | | | 14 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | STRADA CL E G H | 92335 | 30172 | ORPHA:500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 124 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | TAF8 CL E G H | 129685 | 17300 | OMIM:619972 | | | | | | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | . | | | 1 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | TMEM237 CL E G H | 65062 | 14432 | OMIM:614424 | Joubert syndrome 14 | . | | | 82 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040282 - Frequent | | | 23 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618346 | Microcephaly, growth deficiency, seizures, and brain malformations | . | | | | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0010804 | HP:0010804 | Tented upper lip vermilion | 0 | ZNHIT3 CL E G H | 9326 | 12309 | OMIM:260565 | Peho syndrome | | | | 1 | | |