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:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | | | | 254 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | | | | 72 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ACTG1 CL E G H | 71 | 144 | OMIM:614583 | Baraitser-Winter syndrome 2 | | | | 123 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ADARB1 CL E G H | 104 | 226 | OMIM:618862 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ADGRG6 CL E G H | 57211 | 13841 | OMIM:616503 | Lethal congenital contracture syndrome 9 | | | | 5 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ADNP CL E G H | 23394 | 15766 | OMIM:615873 | Helsmoortel-van der Aa syndrome | | | | 47 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | | | | 118 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ADSL CL E G H | 158 | 291 | ORPHA:46 | Adenylosuccinate lyase deficiency | | | | 118 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | | | | 6 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | AGL CL E G H | 178 | 321 | OMIM:232400 | Glycogen storage disease III | | | | 216 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | AGO2 CL E G H | 27161 | 3263 | OMIM:619149 | LESSEL-KREIENKAMP SYNDROME; LESKRES | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ALDH6A1 CL E G H | 4329 | 7179 | OMIM:614105 | Methylmalonate semialdehyde dehydrogenase deficiency | | | | 35 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | | | | 68 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | | | | 93 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ANKLE2 CL E G H | 23141 | 29101 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 3 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | | | | 102 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | | | | 102 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ANKRD17 CL E G H | 26057 | 23575 | OMIM:619504 | CHOPRA-AMIEL-GORDON SYNDROME; CAGS | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | AP2M1 CL E G H | 1173 | 564 | OMIM:618587 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60 | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | AP2M1 CL E G H | 1173 | 564 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 49 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 48 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 41 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 18 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | | | | 3179 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | | | | 88 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | | | | 219 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | | | | 25 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300215 | Lissencephaly, X-linked, 2 | | | | 166 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ASPM CL E G H | 259266 | 19048 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 512 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | | | | 7 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ATIC CL E G H | 471 | 794 | ORPHA:250977 | AICA-ribosiduria | | | | 4 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ATIC CL E G H | 471 | 794 | OMIM:608688 | Aicar transformylase/imp cyclohydrolase deficiency | | | | 4 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | | | | 16 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 239 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 150 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | | | | 169 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | | | | 169 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | | | | 169 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | | | | 36 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | | | | 36 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | BCL11A CL E G H | 53335 | 13221 | OMIM:617101 | Intellectual developmental disorder with persistence of fetal hemoglobin | | | | 11 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | | | | 3 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | 5 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | | | | 13 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | BPTF CL E G H | 2186 | 3581 | OMIM:617755 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:618056 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | | | | 20 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | BRCA1 CL E G H | 672 | 1100 | OMIM:617883 | Fanconi anemia, complementation group S | | | | 5769 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 449 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:601005 | Timothy syndrome | | | | 572 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CCNQ CL E G H | 92002 | 28434 | ORPHA:140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome | | | | 7 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CCNQ CL E G H | 92002 | 28434 | OMIM:300707 | Toe syndactyly, telecanthus, and anogenital and renal malformations | | | | 7 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | | | | 6 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | | | | 6 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:619736 | TEEBI HYPERTELORISM SYNDROME 2; TBHS2 | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CDK19 CL E G H | 23097 | 19338 | OMIM:618916 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87 | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CDK5RAP2 CL E G H | 55755 | 18672 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 181 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CDK6 CL E G H | 1021 | 1777 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 6 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | | | | 200 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CENPJ CL E G H | 55835 | 17272 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 161 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CEP135 CL E G H | 9662 | 29086 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 38 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CEP152 CL E G H | 22995 | 29298 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 146 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CEP63 CL E G H | 80254 | 25815 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 31 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | | | | 16 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CHD2 CL E G H | 1106 | 1917 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 227 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | | | | 19 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | | | | 27 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 27 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CIT CL E G H | 11113 | 1985 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 15 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619517 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CLCN6 CL E G H | 1185 | 2024 | OMIM:619173 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CLP1 CL E G H | 10978 | 16999 | OMIM:615803 | Pontocerebellar hypoplasia, type 10 | | | | 7 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CLTC CL E G H | 1213 | 2092 | OMIM:617854 | Mental retardation, autosomal dominant 56 | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CNOT2 CL E G H | 4848 | 7878 | OMIM:618608 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | | | | 52 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | | | | 52 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | | | | 215 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | | | | 215 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | COPB2 CL E G H | 9276 | 2232 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:617976 | Epileptic encephalopathy, early infantile, 63 | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | | | | 149 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CSNK2A1 CL E G H | 1457 | 2457 | OMIM:617062 | Okur-Chung neurodevelopmental syndrome | | | | 12 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | | | | 20 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:615075 | Neurodevelopmental disorder with spastic diplegia and visual defects | | | | 88 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:404473 | Severe intellectual disability-progressive spastic diplegia syndrome | | | | 88 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | CYFIP2 CL E G H | 26999 | 13760 | OMIM:618008 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65 | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | | | | 27 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DCPS CL E G H | 28960 | 29812 | OMIM:616459 | Al-Raqad syndrome | | | | 5 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DEAF1 CL E G H | 10522 | 14677 | OMIM:615828 | Mental retardation, autosomal dominant 24 | | | | 33 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | | | | 33 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DENND5A CL E G H | 23258 | 19344 | OMIM:617281 | Epileptic encephalopathy, early infantile, 49 | | | | 6 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DHPS CL E G H | 1725 | 2869 | OMIM:618480 | Neurodevelopmental disorder with seizures and speech and walking impairment | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | | | | 164 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | | | | 22 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | | | | 3 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DMPK CL E G H | 1760 | 2933 | ORPHA:589821 | Congenital-onset Steinert myotonic dystrophy | | | | 152 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DNMT3A CL E G H | 1788 | 2978 | OMIM:615879 | Tatton-Brown-Rahman syndrome | | | | 44 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | | | | 27 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DPM2 CL E G H | 8818 | 3006 | OMIM:615042 | Congenital disorder of glycosylation, type Iu | | | | 26 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DPM2 CL E G H | 8818 | 3006 | ORPHA:329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | | | | 26 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 13 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | DYRK1A CL E G H | 1859 | 3091 | OMIM:614104 | Mental retardation, autosomal dominant 7 | | | | 134 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | | | | 115 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | | | | 115 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | EDA2R CL E G H | 60401 | 17756 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | | | | 11 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 86 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 56 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | EDEM3 CL E G H | 80267 | 16787 | OMIM:619493 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | | | | 60 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | EIF5A CL E G H | 1984 | 3300 | OMIM:619376 | FAUNDES-BANKA SYNDROME; FABAS | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:618333 | MENKE-HENNEKAM SYNDROME 2; MKHK2 | | | | 250 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | EXOSC2 CL E G H | 23404 | 17097 | OMIM:617763 | Short stature, hearing loss, retinitis pigmentosa, and distinctive facies | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | | | | 96 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:438178 | Fatty acyl-CoA reductase 1 deficiency | | | | 7 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | FAR1 CL E G H | 84188 | 26222 | OMIM:616154 | PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD | | | | 7 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | | | | 114 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:614185 | GELEOPHYSIC DYSPLASIA 2; GPHYSD2 | | | | 1361 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | | | | 17 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | | | | 172 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | | | | 177 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | | | | 177 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | | | | 48 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | GATAD2B CL E G H | 57459 | 30778 | OMIM:615074 | Mental retardation, autosomal dominant 18 | | | | 33 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | | | | 33 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | | | | 173 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | | | | 143 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | GNAI1 CL E G H | 2770 | 4384 | OMIM:619854 | | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | | | | 173 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | | | | 173 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:301026 | Keipert syndrome | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:3459 | Wilson-Turner syndrome | | | | 37 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | | | | 8 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | | | | 8 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | HNRNPU CL E G H | 3192 | 5048 | ORPHA:238769 | 1q44 microdeletion syndrome | | | | 39 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | HOXB1 CL E G H | 3211 | 5111 | OMIM:614744 | Facial paresis, hereditary congenital, 3 | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | IER3IP1 CL E G H | 51124 | 18550 | OMIM:614231 | Microcephaly, epilepsy, and diabetes syndrome | | | | 6 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | | | | 28 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:617866 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18 | | | | 11 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | | | | 268 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | IL1RAPL1 CL E G H | 11141 | 5996 | OMIM:300143 | Mental retardation, X-linked 21 | | | | 42 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | | | | 119 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:1300 | Autosomal dominant popliteal pterygium syndrome | | | | 99 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | | | | 4 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KAT6A CL E G H | 7994 | 13013 | ORPHA:457193 | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | | | | 34 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | | | | 13 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | | | | 193 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | | | | 193 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | | | | 128 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KCNJ6 CL E G H | 3763 | 6267 | OMIM:614098 | Keppen-Lubinsky syndrome | | | | 3 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | | | | 3 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KCNK9 CL E G H | 51305 | 6283 | OMIM:612292 | BIRK-BAREL SYNDROME | | | | 4 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | | | | 4 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | | | | 3 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | | | | 3 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KDM3B CL E G H | 51780 | 1337 | OMIM:618846 | DIETS-JONGMANS SYNDROME; DIJOS | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | | | | 46 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KIF14 CL E G H | 9928 | 19181 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 9 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KMT2A CL E G H | 4297 | 7132 | OMIM:605130 | Wiedemann-Steiner syndrome | | | | 91 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | | | | 91 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | KNL1 CL E G H | 57082 | 24054 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 112 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | LAS1L CL E G H | 81887 | 25726 | ORPHA:3459 | Wilson-Turner syndrome | | | | 8 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | | | | 46 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | | | | 21 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MAF CL E G H | 4094 | 6776 | OMIM:601088 | Ayme-Gripp syndrome | | | | 21 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 63 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | | | | 93 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MAN1B1 CL E G H | 11253 | 6823 | OMIM:614202 | Rafiq syndrome | | | | 93 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MAP1B CL E G H | 4131 | 6836 | OMIM:618918 | PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9 | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | | | | 4 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | | | | 252 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MCM7 CL E G H | 4176 | 6950 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MCPH1 CL E G H | 79648 | 6954 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 155 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | | | | 3 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:1762 | Proximal Xq28 duplication syndrome | | | | 950 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:309520 | Lujan-Fryns syndrome | | | | 228 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MED13 CL E G H | 9969 | 22474 | OMIM:618009 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61 | | | | 4 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MED25 CL E G H | 81857 | 28845 | OMIM:616449 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MEF2C CL E G H | 4208 | 6996 | OMIM:613443 | Mental retardation, autosomal dominant 20 | | | | 132 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | | | | 7 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MESD CL E G H | 23184 | 13520 | OMIM:618644 | OSTEOGENESIS IMPERFECTA, TYPE XX; OI20 | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | METTL5 CL E G H | 29081 | 25006 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | METTL5 CL E G H | 29081 | 25006 | OMIM:618665 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72 | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MFSD2A CL E G H | 84879 | 25897 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 5 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | | | | 57 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | | | | 3 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MPC1 CL E G H | 51660 | 21606 | OMIM:614741 | Mitochondrial pyruvate carrier deficiency | | | | 6 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MSL3 CL E G H | 10943 | 7370 | OMIM:301032 | BASILICATA-AKHTAR SYNDROME; MRXSBA | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | | | | 68 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MYMX CL E G H | 101929726 | 52391 | OMIM:619941 | | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MYO18B CL E G H | 84700 | 18150 | OMIM:616549 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | | | | 5 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:276432 | Ogden syndrome | | | | 23 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | | | | 48 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 48 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | NCAPD3 CL E G H | 23310 | 28952 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | NCAPG2 CL E G H | 54892 | 21904 | OMIM:618460 | Khan-Khan-Katsanis syndrome | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 52 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:85277 | X-linked intellectual disability, Cantagrel type | | | | 52 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | NFIA CL E G H | 4774 | 7784 | OMIM:613735 | Brain malformations with or without urinary tract defects | | | | 12 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | | | | 45 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | | | | 10 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | NSRP1 CL E G H | 84081 | 25305 | OMIM:620001 | | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | | | | 84 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 121 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | | | | 88 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | | | | 201 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | OGT CL E G H | 8473 | 8127 | OMIM:300997 | Mental retardation, X-linked 106 | | | | 4 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | | | | 55 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | OTUD6B CL E G H | 51633 | 24281 | ORPHA:505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | | | | 4 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | | | | 4 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | | | | 24 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | | | | 24 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PACS2 CL E G H | 23241 | 23794 | OMIM:618067 | Epileptic encephalopathy, early infantile, 66 | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PAK3 CL E G H | 5063 | 8592 | OMIM:300558 | MENTAL RETARDATION, X-LINKED 30; MRX30 | | | | 27 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | | | | 59 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:896 | Waardenburg syndrome type 3 | | | | 59 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | | | | 3 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | | | | 113 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:616592 | Kosaki overgrowth syndrome | | | | 28 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PGAP2 CL E G H | 27315 | 17893 | OMIM:614207 | Hyperphosphatasia with mental retardation syndrome 3 | | | | 8 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 8 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PGAP3 CL E G H | 93210 | 23719 | OMIM:615716 | Hyperphosphatasia with mental retardation syndrome 4 | | | | 20 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 20 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PHC1 CL E G H | 1911 | 3182 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 16 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | | | | 77 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:488635 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome | | | | 7 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PIGK CL E G H | 10026 | 8965 | OMIM:618879 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 36 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | | | 37 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PIGO CL E G H | 84720 | 23215 | OMIM:614749 | Hyperphosphatasia with mental retardation syndrome 2 | | | | 84 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 84 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PIGQ CL E G H | 9091 | 14135 | OMIM:618548 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4 | | | | 3 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | | | | 12 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PIGV CL E G H | 55650 | 26031 | OMIM:239300 | Hyperphosphatasia with mental retardation | | | | 57 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 57 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PIGW CL E G H | 284098 | 23213 | OMIM:616025 | Glycosylphosphatidylinositol biosynthesis defect 11 | | | | 6 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 6 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | | | | 51 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | | | | 3 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | | | | 3 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PLPBP CL E G H | 11212 | 9457 | OMIM:617290 | Epilepsy, early-onset, vitamin b6-dependent | | | | 6 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | | | | 150 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | | | | 150 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | | | | 35 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PPM1D CL E G H | 8493 | 9277 | OMIM:617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | | | | 22 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PPP2R1A CL E G H | 5518 | 9302 | OMIM:616362 | Mental retardation, autosomal dominant 36 | | | | 13 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | | | | 10 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | | | | 28 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PREPL CL E G H | 9581 | 30228 | OMIM:616224 | Myasthenic syndrome, congenital, 22 | | | | 7 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PRKDC CL E G H | 5591 | 9413 | OMIM:615966 | Immunodeficiency 26 with or without neurologic abnormalities | | | | 42 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 4 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | | | | 665 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | | | | 6 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PTRH2 CL E G H | 51651 | 24265 | OMIM:616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | | | | 6 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PUF60 CL E G H | 22827 | 17042 | OMIM:615583 | Verheij syndrome | | | | 19 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PURA CL E G H | 5813 | 9701 | OMIM:616158 | Mental retardation, autosomal dominant 31 | | | | 53 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:438216 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | | | | 53 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:314655 | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | | | | 53 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 11 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | RAB11B CL E G H | 9230 | 9761 | OMIM:617807 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | | | | 25 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | | | | 150 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | | | | 150 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | RALA CL E G H | 5898 | 9839 | OMIM:619311 | HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:618388 | FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2 | | | | 73 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | RHOBTB2 CL E G H | 23221 | 18756 | OMIM:618004 | Epileptic encephalopathy, early infantile, 64 | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | RNF135 CL E G H | 84282 | 21158 | ORPHA:137634 | Overgrowth-macrocephaly-facial dysmorphism syndrome | | | | 11 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 120 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | | | | 10 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:435938 | X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome | | | | 10 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | RPS7 CL E G H | 6201 | 10440 | OMIM:612563 | Diamond-Blackfan anemia 8 | | | | 20 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SASS6 CL E G H | 163786 | 25403 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 4 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040283 - Occasional | | | 34 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:576283 | SATB2-associated syndrome due to a pathogenic variant | | | | 34 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 1053 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SEC23A CL E G H | 10484 | 10701 | OMIM:607812 | Craniolenticulosutural dysplasia | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | | | | 143 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SETD1A CL E G H | 9739 | 29010 | OMIM:619056 | NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID | | | | 6 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SETD5 CL E G H | 55209 | 25566 | ORPHA:404440 | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | | | | 43 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SETD5 CL E G H | 55209 | 25566 | OMIM:615761 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 | | | | 43 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | | | | 67 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | | | | 40 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 63 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | | | | 14 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | | | | 166 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 255 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SLC6A1 CL E G H | 6529 | 11042 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 29 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SLC9A7 CL E G H | 84679 | 17123 | OMIM:301024 | Intellectual developmental disorder, X-linked 108 | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | | | | 504 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | | | | 617 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | | | | 87 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SMARCC2 CL E G H | 6601 | 11105 | OMIM:618362 | Coffin-Siris syndrome 8 | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | | | | 47 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | | | | 47 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:300590 | Cornelia de Lange syndrome 2 | | | | 135 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 37 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | | | | 14 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SPATA5L1 CL E G H | 79029 | 28762 | OMIM:619616 | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SPECC1L CL E G H | 23384 | 29022 | OMIM:145420 | Hypertelorism, Teebi type | | | | 6 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:619595 | DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA | | | | 138 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SSR4 CL E G H | 6748 | 11326 | ORPHA:370927 | SSR4-CDG | HP:0040281 - Very frequent | | | 12 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301022 | Neurodevelopmental disorder, X-linked, with craniofacial abnormalities | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | STEEP1 CL E G H | 63932 | 26239 | OMIM:301013 | MENTAL RETARDATION, X-LINKED 107; MRX107 | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 99 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | STRADA CL E G H | 92335 | 30172 | OMIM:611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | | | | 6 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | STRADA CL E G H | 92335 | 30172 | ORPHA:500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | | | | 6 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | STT3A CL E G H | 3703 | 6172 | OMIM:619714 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD | | | | 21 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | | | | 124 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 108 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SYT1 CL E G H | 6857 | 11509 | OMIM:618218 | Baker-Gordon syndrome | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:480907 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | | | | 21 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TAF13 CL E G H | 6884 | 11546 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TAF6 CL E G H | 6878 | 11540 | OMIM:617126 | Alazami-Yuan syndrome | | | | 5 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TAF8 CL E G H | 129685 | 17300 | OMIM:619972 | | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | | | | 13 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | | | | 22 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | THOC6 CL E G H | 79228 | 28369 | ORPHA:363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | THUMPD1 CL E G H | 55623 | 23807 | OMIM:619989 | | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TLK2 CL E G H | 11011 | 11842 | OMIM:618050 | Mental retardation, autosomal dominant 57 | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TMEM237 CL E G H | 65062 | 14432 | OMIM:614424 | Joubert syndrome 14 | | | | 82 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TNRC6B CL E G H | 23112 | 29190 | OMIM:619243 | GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | | | | 6 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | | | | 6 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TRAPPC10 CL E G H | 7109 | 11868 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TRAPPC14 CL E G H | 55262 | 25604 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | | | | 158 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TRIP12 CL E G H | 9320 | 12306 | OMIM:617752 | Mental retardation, autosomal dominant 49 | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | | | | 7 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | | | | 171 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | | | | 171 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190351 | Trichorhinophalangeal syndrome, type III | | | | 171 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TUBGCP2 CL E G H | 10844 | 18599 | OMIM:618737 | PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:227260 | FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 | | | | 7 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | | | | 13 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | | | | 23 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 23 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | | | | 27 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | | | | 20 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | | | | 20 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | | | | 20 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | | | | 2 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | WASHC4 CL E G H | 23325 | 29174 | OMIM:615817 | Mental retardation, autosomal recessive 43 | | | | 25 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | | | | 95 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | | | | 8 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | WDR26 CL E G H | 80232 | 21208 | OMIM:617616 | Skraban-Deardorff syndrome | | | | 8 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618346 | Microcephaly, growth deficiency, seizures, and brain malformations | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | WDR62 CL E G H | 284403 | 24502 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 224 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ZBTB18 CL E G H | 10472 | 13030 | OMIM:612337 | Mental retardation, autosomal dominant 22 | | | | 16 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | | | | 19 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | | | | 34 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ZNF292 CL E G H | 23036 | 18410 | OMIM:619188 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64 | | | | 3 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ZNF407 CL E G H | 55628 | 19904 | OMIM:619557 | SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA | | | | 68 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ZNF526 CL E G H | 116115 | 29415 | OMIM:619877 | | | | | 24 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ZNHIT3 CL E G H | 9326 | 12309 | OMIM:260565 | Peho syndrome | | | | 1 | | |
HP:0011339 | HP:0011339 | Abnormality of upper lip vermillion | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:603671 | Acromelic frontonasal dysostosis | | | | 5 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | . | | | 254 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | | | | 72 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ACTG1 CL E G H | 71 | 144 | OMIM:614583 | Baraitser-Winter syndrome 2 | . | | | 123 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | HP:0040282 - Frequent | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ADARB1 CL E G H | 104 | 226 | OMIM:618862 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS | | | | 1 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ADGRG6 CL E G H | 57211 | 13841 | OMIM:616503 | Lethal congenital contracture syndrome 9 | . | | | 5 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ADNP CL E G H | 23394 | 15766 | OMIM:615873 | Helsmoortel-van der Aa syndrome | | | | 47 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | | | | 118 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ADSL CL E G H | 158 | 291 | ORPHA:46 | Adenylosuccinate lyase deficiency | HP:0040281 - Very frequent | | | 118 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | AGL CL E G H | 178 | 321 | OMIM:232400 | Glycogen storage disease III | . | | | 216 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | AGO2 CL E G H | 27161 | 3263 | OMIM:619149 | LESSEL-KREIENKAMP SYNDROME; LESKRES | | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | ALDH6A1 CL E G H | 4329 | 7179 | OMIM:614105 | Methylmalonate semialdehyde dehydrogenase deficiency | . | | | 35 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040283 - Occasional | | | 68 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | . | | | 68 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ANKLE2 CL E G H | 23141 | 29101 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 3 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | | | | 102 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ANKRD17 CL E G H | 26057 | 23575 | OMIM:619504 | CHOPRA-AMIEL-GORDON SYNDROME; CAGS | | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | AP2M1 CL E G H | 1173 | 564 | OMIM:618587 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60 | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | AP2M1 CL E G H | 1173 | 564 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040283 - Occasional | | | 49 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040283 - Occasional | | | 48 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040283 - Occasional | | | 41 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040283 - Occasional | | | 18 | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | HP:0040282 - Frequent | | | 3179 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | . | | | 1 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 219 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ARX CL E G H | 170302 | 18060 | OMIM:300215 | Lissencephaly, X-linked, 2 | | | | 166 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ASPM CL E G H | 259266 | 19048 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 512 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | | | | 7 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ATIC CL E G H | 471 | 794 | ORPHA:250977 | AICA-ribosiduria | HP:0040281 - Very frequent | | | 4 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ATIC CL E G H | 471 | 794 | OMIM:608688 | Aicar transformylase/imp cyclohydrolase deficiency | | | | 4 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | . | | | 16 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 239 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 150 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0011339 | HP:0010806 | U-Shaped upper lip vermilion | 1 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | HP:0040282 - Frequent | | | 169 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | HP:0040282 - Frequent | | | 169 | | |
HP:0011339 | HP:0010806 | U-Shaped upper lip vermilion | 1 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | . | | | 169 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0011339 | HP:0010806 | U-Shaped upper lip vermilion | 1 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | BCL11A CL E G H | 53335 | 13221 | OMIM:617101 | Intellectual developmental disorder with persistence of fetal hemoglobin | . | | | 11 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | . | | | 3 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | . | | | 13 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | BPTF CL E G H | 2186 | 3581 | OMIM:617755 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL | | | | 2 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | BRAT1 CL E G H | 221927 | 21701 | OMIM:618056 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | . | | | 20 | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | BRCA1 CL E G H | 672 | 1100 | OMIM:617883 | Fanconi anemia, complementation group S | . | | | 5769 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 449 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CACNA1C CL E G H | 775 | 1390 | OMIM:601005 | Timothy syndrome | . | | | 572 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CCNQ CL E G H | 92002 | 28434 | ORPHA:140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CCNQ CL E G H | 92002 | 28434 | OMIM:300707 | Toe syndactyly, telecanthus, and anogenital and renal malformations | . | | | 7 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | | | | 6 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | . | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CDH11 CL E G H | 1009 | 1750 | OMIM:619736 | TEEBI HYPERTELORISM SYNDROME 2; TBHS2 | | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | . | | | 2 | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | . | | | 8 | | |
HP:0011339 | HP:0010806 | U-Shaped upper lip vermilion | 1 | CDK19 CL E G H | 23097 | 19338 | OMIM:618916 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87 | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CDK5RAP2 CL E G H | 55755 | 18672 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 181 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CDK6 CL E G H | 1021 | 1777 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 6 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CENPJ CL E G H | 55835 | 17272 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 161 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CEP135 CL E G H | 9662 | 29086 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 38 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CEP152 CL E G H | 22995 | 29298 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 146 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CEP63 CL E G H | 80254 | 25815 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 31 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | | | | 16 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | . | | | 16 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CHD2 CL E G H | 1106 | 1917 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 227 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | | | | 19 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | | | 27 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 27 | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CIT CL E G H | 11113 | 1985 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 15 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619517 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA | | | | 2 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619517 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA | | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CLCN6 CL E G H | 1185 | 2024 | OMIM:619173 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CLP1 CL E G H | 10978 | 16999 | OMIM:615803 | Pontocerebellar hypoplasia, type 10 | . | | | 7 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CLTC CL E G H | 1213 | 2092 | OMIM:617854 | Mental retardation, autosomal dominant 56 | . | | | 1 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CNOT2 CL E G H | 4848 | 7878 | OMIM:618608 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS | | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | HP:0040282 - Frequent | | | 52 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | . | | | 52 | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | HP:0040281 - Very frequent | | | 215 | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | . | | | 215 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | COPB2 CL E G H | 9276 | 2232 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CPLX1 CL E G H | 10815 | 2309 | OMIM:617976 | Epileptic encephalopathy, early infantile, 63 | . | | | 1 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | | | | 149 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CSNK2A1 CL E G H | 1457 | 2457 | OMIM:617062 | Okur-Chung neurodevelopmental syndrome | . | | | 12 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040282 - Frequent | | | 20 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:615075 | Neurodevelopmental disorder with spastic diplegia and visual defects | . | | | 88 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:404473 | Severe intellectual disability-progressive spastic diplegia syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | CYFIP2 CL E G H | 26999 | 13760 | OMIM:618008 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65 | | | | 1 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | . | | | 27 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | DCPS CL E G H | 28960 | 29812 | OMIM:616459 | Al-Raqad syndrome | . | | | 5 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0011339 | HP:0010800 | Absent cupid's bow | 1 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | HP:0040283 - Occasional | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | | | | 2 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | DEAF1 CL E G H | 10522 | 14677 | OMIM:615828 | Mental retardation, autosomal dominant 24 | . | | | 33 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | DENND5A CL E G H | 23258 | 19344 | OMIM:617281 | Epileptic encephalopathy, early infantile, 49 | . | | | 6 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | DHPS CL E G H | 1725 | 2869 | OMIM:618480 | Neurodevelopmental disorder with seizures and speech and walking impairment | | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | . | | | 164 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | 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:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | DMPK CL E G H | 1760 | 2933 | ORPHA:589821 | Congenital-onset Steinert myotonic dystrophy | | | | 152 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | DNMT3A CL E G H | 1788 | 2978 | OMIM:615879 | Tatton-Brown-Rahman syndrome | | | | 44 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | DNMT3A CL E G H | 1788 | 2978 | OMIM:615879 | Tatton-Brown-Rahman syndrome | | | | 44 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | . | | | | | |
HP:0011339 | HP:0010806 | U-Shaped upper lip vermilion | 1 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | DPM2 CL E G H | 8818 | 3006 | OMIM:615042 | Congenital disorder of glycosylation, type Iu | . | | | 26 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | DPM2 CL E G H | 8818 | 3006 | ORPHA:329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | HP:0040283 - Occasional | | | 26 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | . | | | 14 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | DYRK1A CL E G H | 1859 | 3091 | OMIM:614104 | Mental retardation, autosomal dominant 7 | | | | 134 | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | EDA CL E G H | 1896 | 3157 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 115 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | EDA2R CL E G H | 60401 | 17756 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 11 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | EDAR CL E G H | 10913 | 2895 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 86 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | EDARADD CL E G H | 128178 | 14341 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | EDEM3 CL E G H | 80267 | 16787 | OMIM:619493 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V | | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | . | | | 60 | | |
HP:0011339 | HP:0010806 | U-Shaped upper lip vermilion | 1 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | EIF5A CL E G H | 1984 | 3300 | OMIM:619376 | FAUNDES-BANKA SYNDROME; FABAS | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:618333 | MENKE-HENNEKAM SYNDROME 2; MKHK2 | | | | 250 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | EXOSC2 CL E G H | 23404 | 17097 | OMIM:617763 | Short stature, hearing loss, retinitis pigmentosa, and distinctive facies | . | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040281 - Very frequent | | | 96 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | FAR1 CL E G H | 84188 | 26222 | ORPHA:438178 | Fatty acyl-CoA reductase 1 deficiency | HP:0040283 - Occasional | | | 7 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | FAR1 CL E G H | 84188 | 26222 | OMIM:616154 | PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD | | | | 7 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:614185 | GELEOPHYSIC DYSPLASIA 2; GPHYSD2 | | | | 1361 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | HP:0040281 - Very frequent | | | 177 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | | | | 177 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | GATAD2B CL E G H | 57459 | 30778 | OMIM:615074 | Mental retardation, autosomal dominant 18 | . | | | 33 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | . | | | 143 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | GNAI1 CL E G H | 2770 | 4384 | OMIM:619854 | | | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | GNAI1 CL E G H | 2770 | 4384 | OMIM:619854 | | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | | | | 173 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | HP:0040281 - Very frequent | | | 173 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | HP:0040282 - Frequent | | | | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | HP:0040282 - Frequent | | | | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:301026 | Keipert syndrome | . | | | | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:301026 | Keipert syndrome | . | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:3459 | Wilson-Turner syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040283 - Occasional | | | 8 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040283 - Occasional | | | 8 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | HNRNPU CL E G H | 3192 | 5048 | ORPHA:238769 | 1q44 microdeletion syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | HOXB1 CL E G H | 3211 | 5111 | OMIM:614744 | Facial paresis, hereditary congenital, 3 | | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | IER3IP1 CL E G H | 51124 | 18550 | OMIM:614231 | Microcephaly, epilepsy, and diabetes syndrome | . | | | 6 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | | | | 28 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | IFT43 CL E G H | 112752 | 29669 | OMIM:617866 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18 | | | | 11 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | | | | 268 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | IL1RAPL1 CL E G H | 11141 | 5996 | OMIM:300143 | Mental retardation, X-linked 21 | . | | | 42 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | IRF6 CL E G H | 3664 | 6121 | ORPHA:1300 | Autosomal dominant popliteal pterygium syndrome | HP:0040281 - Very frequent | | | 99 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | | | | 4 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | . | | | 34 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | KAT6A CL E G H | 7994 | 13013 | ORPHA:457193 | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | | | | 193 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 193 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 128 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | KCNJ6 CL E G H | 3763 | 6267 | OMIM:614098 | Keppen-Lubinsky syndrome | . | | | 3 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | . | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | KCNK9 CL E G H | 51305 | 6283 | OMIM:612292 | BIRK-BAREL SYNDROME | | | | 4 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | HP:0040282 - Frequent | | | 4 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | | | | 3 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | KDM3B CL E G H | 51780 | 1337 | OMIM:618846 | DIETS-JONGMANS SYNDROME; DIJOS | | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | . | | | 46 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | KIF14 CL E G H | 9928 | 19181 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 9 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | KMT2A CL E G H | 4297 | 7132 | OMIM:605130 | Wiedemann-Steiner syndrome | . | | | 91 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | KNL1 CL E G H | 57082 | 24054 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 112 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | LAS1L CL E G H | 81887 | 25726 | ORPHA:3459 | Wilson-Turner syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | | | | 46 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MAF CL E G H | 4094 | 6776 | OMIM:601088 | Ayme-Gripp syndrome | | | | 21 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 63 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MAN1B1 CL E G H | 11253 | 6823 | OMIM:614202 | Rafiq syndrome | | | | 93 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | MAP1B CL E G H | 4131 | 6836 | OMIM:618918 | PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9 | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0011339 | HP:0010806 | U-Shaped upper lip vermilion | 1 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | . | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | | | | 4 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | HP:0040282 - Frequent | | | 252 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | . | | | 252 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MCM7 CL E G H | 4176 | 6950 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MCPH1 CL E G H | 79648 | 6954 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 155 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040282 - Frequent | | | 3 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | . | | | 950 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | MECP2 CL E G H | 4204 | 6990 | ORPHA:1762 | Proximal Xq28 duplication syndrome | HP:0040281 - Very frequent | | | 950 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:309520 | Lujan-Fryns syndrome | | | | 228 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MED13 CL E G H | 9969 | 22474 | OMIM:618009 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61 | | | | 4 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | MED25 CL E G H | 81857 | 28845 | OMIM:616449 | Basel-Vanagaite-Smirin-Yosef syndrome | . | | | 43 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MEF2C CL E G H | 4208 | 6996 | OMIM:613443 | Mental retardation, autosomal dominant 20 | | | | 132 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | 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:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | . | | | 7 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | | | | 7 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | MESD CL E G H | 23184 | 13520 | OMIM:618644 | OSTEOGENESIS IMPERFECTA, TYPE XX; OI20 | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | METTL5 CL E G H | 29081 | 25006 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | METTL5 CL E G H | 29081 | 25006 | OMIM:618665 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72 | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MFSD2A CL E G H | 84879 | 25897 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 5 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | | | | 57 | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040282 - Frequent | | | 3 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MPC1 CL E G H | 51660 | 21606 | OMIM:614741 | Mitochondrial pyruvate carrier deficiency | HP:0040283 - Occasional | | | 6 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | MSL3 CL E G H | 10943 | 7370 | OMIM:301032 | BASILICATA-AKHTAR SYNDROME; MRXSBA | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | . | | | 68 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MYMX CL E G H | 101929726 | 52391 | OMIM:619941 | | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | MYO18B CL E G H | 84700 | 18150 | OMIM:616549 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | | | | 5 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | . | | | 23 | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | . | | | 23 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | . | | | 23 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | NAA10 CL E G H | 8260 | 18704 | ORPHA:276432 | Ogden syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | NALCN CL E G H | 259232 | 19082 | OMIM:615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | . | | | 48 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | NCAPD3 CL E G H | 23310 | 28952 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | NCAPG2 CL E G H | 54892 | 21904 | OMIM:618460 | Khan-Khan-Katsanis syndrome | . | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 52 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:85277 | X-linked intellectual disability, Cantagrel type | HP:0040281 - Very frequent | | | 52 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | NFIA CL E G H | 4774 | 7784 | OMIM:613735 | Brain malformations with or without urinary tract defects | . | | | 12 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | . | | | 22 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | . | | | 22 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | NSRP1 CL E G H | 84081 | 25305 | OMIM:620001 | | | | | | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | . | | | 84 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 121 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040283 - Occasional | | | 88 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0011339 | HP:0010806 | U-Shaped upper lip vermilion | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | . | | | 201 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | | | | 201 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | OGT CL E G H | 8473 | 8127 | OMIM:300997 | Mental retardation, X-linked 106 | | | | 4 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | | | | 55 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | OTUD6B CL E G H | 51633 | 24281 | ORPHA:505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | | | | 4 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | . | | | 24 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PACS2 CL E G H | 23241 | 23794 | OMIM:618067 | Epileptic encephalopathy, early infantile, 66 | . | | | | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | PAK3 CL E G H | 5063 | 8592 | OMIM:300558 | MENTAL RETARDATION, X-LINKED 30; MRX30 | | | | 27 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PAK3 CL E G H | 5063 | 8592 | OMIM:300558 | MENTAL RETARDATION, X-LINKED 30; MRX30 | | | | 27 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | HP:0040282 - Frequent | | | 59 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PAX3 CL E G H | 5077 | 8617 | ORPHA:896 | Waardenburg syndrome type 3 | HP:0040281 - Very frequent | | | 59 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | . | | | 3 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | HP:0040283 - Occasional | | | 113 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PDGFRB CL E G H | 5159 | 8804 | OMIM:616592 | Kosaki overgrowth syndrome | . | | | 28 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PGAP2 CL E G H | 27315 | 17893 | OMIM:614207 | Hyperphosphatasia with mental retardation syndrome 3 | . | | | 8 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PGAP3 CL E G H | 93210 | 23719 | OMIM:615716 | Hyperphosphatasia with mental retardation syndrome 4 | . | | | 20 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PGAP3 CL E G H | 93210 | 23719 | OMIM:615716 | Hyperphosphatasia with mental retardation syndrome 4 | . | | | 20 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 20 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PHC1 CL E G H | 1911 | 3182 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 16 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | . | | | 77 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PIGG CL E G H | 54872 | 25985 | ORPHA:488635 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PIGK CL E G H | 10026 | 8965 | OMIM:618879 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS | | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PIGO CL E G H | 84720 | 23215 | OMIM:614749 | Hyperphosphatasia with mental retardation syndrome 2 | | | | 84 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 84 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PIGQ CL E G H | 9091 | 14135 | OMIM:618548 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4 | | | | 3 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PIGV CL E G H | 55650 | 26031 | OMIM:239300 | Hyperphosphatasia with mental retardation | | | | 57 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PIGV CL E G H | 55650 | 26031 | OMIM:239300 | Hyperphosphatasia with mental retardation | . | | | 57 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PIGW CL E G H | 284098 | 23213 | OMIM:616025 | Glycosylphosphatidylinositol biosynthesis defect 11 | . | | | 6 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | | | | 51 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | . | | | 3 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | HP:0040282 - Frequent | | | 3 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PLPBP CL E G H | 11212 | 9457 | OMIM:617290 | Epilepsy, early-onset, vitamin b6-dependent | | | | 6 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | | | | 150 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040282 - Frequent | | | 150 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040281 - Very frequent | | | 138 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PPM1D CL E G H | 8493 | 9277 | OMIM:617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | . | | | 22 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PPP2R1A CL E G H | 5518 | 9302 | OMIM:616362 | Mental retardation, autosomal dominant 36 | . | | | 13 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | HP:0040284 - Very rare | | | 10 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | . | | | 28 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PREPL CL E G H | 9581 | 30228 | OMIM:616224 | Myasthenic syndrome, congenital, 22 | . | | | 7 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PRKDC CL E G H | 5591 | 9413 | OMIM:615966 | Immunodeficiency 26 with or without neurologic abnormalities | HP:0040283 - Occasional | | | 42 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | HP:0040282 - Frequent | | | 6 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PTRH2 CL E G H | 51651 | 24265 | OMIM:616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | . | | | 6 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PUF60 CL E G H | 22827 | 17042 | OMIM:615583 | Verheij syndrome | . | | | 19 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | PURA CL E G H | 5813 | 9701 | OMIM:616158 | Mental retardation, autosomal dominant 31 | | | | 53 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | 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:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | 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:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | 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:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 11 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | RAB11B CL E G H | 9230 | 9761 | OMIM:617807 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | . | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | . | | | 25 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | RALA CL E G H | 5898 | 9839 | OMIM:619311 | HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS | | | | | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | RALA CL E G H | 5898 | 9839 | OMIM:619311 | HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS | | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | RAPSN CL E G H | 5913 | 9863 | OMIM:618388 | FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2 | | | | 73 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | RHOBTB2 CL E G H | 23221 | 18756 | OMIM:618004 | Epileptic encephalopathy, early infantile, 64 | . | | | 1 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | RNF135 CL E G H | 84282 | 21158 | ORPHA:137634 | Overgrowth-macrocephaly-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040283 - Occasional | | | 120 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 120 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | RPL10 CL E G H | 6134 | 10298 | ORPHA:435938 | X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | RPS7 CL E G H | 6201 | 10440 | OMIM:612563 | Diamond-Blackfan anemia 8 | . | | | 20 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | 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:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | . | | | 2 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | HP:0040283 - Occasional | | | 1200 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SASS6 CL E G H | 163786 | 25403 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 4 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:576283 | SATB2-associated syndrome due to a pathogenic variant | HP:0040282 - Frequent | | | 34 | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 1053 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SEC23A CL E G H | 10484 | 10701 | OMIM:607812 | Craniolenticulosutural dysplasia | | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | . | | | 143 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | SETD1A CL E G H | 9739 | 29010 | OMIM:619056 | NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID | | | | 6 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SETD5 CL E G H | 55209 | 25566 | ORPHA:404440 | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | HP:0040283 - Occasional | | | 43 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SETD5 CL E G H | 55209 | 25566 | OMIM:615761 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 | | | | 43 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 63 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | . | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | . | | | 14 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040283 - Occasional | | | 166 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 255 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SLC6A1 CL E G H | 6529 | 11042 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 29 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SLC9A7 CL E G H | 84679 | 17123 | OMIM:301024 | Intellectual developmental disorder, X-linked 108 | . | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | | | | 504 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 617 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SMARCC2 CL E G H | 6601 | 11105 | OMIM:618362 | Coffin-Siris syndrome 8 | . | | | 1 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | | | | 47 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SMC1A CL E G H | 8243 | 11111 | OMIM:300590 | Cornelia de Lange syndrome 2 | . | | | 135 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 37 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040282 - Frequent | | | 37 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | SPATA5L1 CL E G H | 79029 | 28762 | OMIM:619616 | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SPECC1L CL E G H | 23384 | 29022 | OMIM:145420 | Hypertelorism, Teebi type | | | | 6 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SRCAP CL E G H | 10847 | 16974 | OMIM:619595 | DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA | | | | 138 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | STAG2 CL E G H | 10735 | 11355 | OMIM:301022 | Neurodevelopmental disorder, X-linked, with craniofacial abnormalities | . | | | 1 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | STEEP1 CL E G H | 63932 | 26239 | OMIM:301013 | MENTAL RETARDATION, X-LINKED 107; MRX107 | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 99 | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | STRADA CL E G H | 92335 | 30172 | OMIM:611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | | | | 6 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | STRADA CL E G H | 92335 | 30172 | ORPHA:500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | STT3A CL E G H | 3703 | 6172 | OMIM:619714 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD | | | | 21 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 124 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 108 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SYT1 CL E G H | 6857 | 11509 | OMIM:618218 | Baker-Gordon syndrome | . | | | 1 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TAF1 CL E G H | 6872 | 11535 | ORPHA:480907 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TAF13 CL E G H | 6884 | 11546 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TAF6 CL E G H | 6878 | 11540 | OMIM:617126 | Alazami-Yuan syndrome | . | | | 5 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | TAF8 CL E G H | 129685 | 17300 | OMIM:619972 | | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 271 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | . | | | 1 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | . | | | 1 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | THOC6 CL E G H | 79228 | 28369 | ORPHA:363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | THUMPD1 CL E G H | 55623 | 23807 | OMIM:619989 | | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TLK2 CL E G H | 11011 | 11842 | OMIM:618050 | Mental retardation, autosomal dominant 57 | | | | 1 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | TMEM237 CL E G H | 65062 | 14432 | OMIM:614424 | Joubert syndrome 14 | . | | | 82 | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | . | | | 1 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | | | | 1 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TNRC6B CL E G H | 23112 | 29190 | OMIM:619243 | GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA | | | | | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040282 - Frequent | | | 6 | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | . | | | 6 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TRAPPC10 CL E G H | 7109 | 11868 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TRAPPC14 CL E G H | 55262 | 25604 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 158 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | TRIP12 CL E G H | 9320 | 12306 | OMIM:617752 | Mental retardation, autosomal dominant 49 | | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TRIP12 CL E G H | 9320 | 12306 | OMIM:617752 | Mental retardation, autosomal dominant 49 | | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040281 - Very frequent | | | 171 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | . | | | 171 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190351 | Trichorhinophalangeal syndrome, type III | | | | 171 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | TUBGCP2 CL E G H | 10844 | 18599 | OMIM:618737 | PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS | | | | | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | TWIST2 CL E G H | 117581 | 20670 | OMIM:227260 | FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 | | | | 7 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | | | | 13 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | . | | | 23 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040282 - Frequent | | | 23 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040282 - Frequent | | | 23 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | HP:0040283 - Occasional | | | 27 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | | | | 20 | | |
HP:0011339 | HP:0010800 | Absent cupid's bow | 1 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | HP:0040283 - Occasional | | | 20 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | HP:0040283 - Occasional | | | 20 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040283 - Occasional | | | 2 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | WASHC4 CL E G H | 23325 | 29174 | OMIM:615817 | Mental retardation, autosomal recessive 43 | | | | 25 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | . | | | 95 | | |
HP:0011339 | HP:0010800 | Absent cupid's bow | 1 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0011339 | HP:0010803 | Everted upper lip vermilion | 1 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0011339 | HP:0000215 | Thick upper lip vermilion | 1 | WDR26 CL E G H | 80232 | 21208 | OMIM:617616 | Skraban-Deardorff syndrome | . | | | 8 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | WDR4 CL E G H | 10785 | 12756 | OMIM:618346 | Microcephaly, growth deficiency, seizures, and brain malformations | . | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | WDR62 CL E G H | 284403 | 24502 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 224 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ZBTB18 CL E G H | 10472 | 13030 | OMIM:612337 | Mental retardation, autosomal dominant 22 | . | | | 16 | | |
HP:0011339 | HP:0010806 | U-Shaped upper lip vermilion | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | . | | | 19 | | |
HP:0011339 | HP:0010806 | U-Shaped upper lip vermilion | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ZNF292 CL E G H | 23036 | 18410 | OMIM:619188 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64 | | | | 3 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ZNF407 CL E G H | 55628 | 19904 | OMIM:619557 | SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA | | | | 68 | | |
HP:0011339 | HP:0002263 | Exaggerated cupid's bow | 1 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0011339 | HP:0000219 | Thin upper lip vermilion | 1 | ZNF526 CL E G H | 116115 | 29415 | OMIM:619877 | | | | | 24 | | |
HP:0011339 | HP:0010804 | Tented upper lip vermilion | 1 | ZNHIT3 CL E G H | 9326 | 12309 | OMIM:260565 | Peho syndrome | | | | 1 | | |
HP:0011339 | HP:0010806 | U-Shaped upper lip vermilion | 1 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:603671 | Acromelic frontonasal dysostosis | HP:0040283 - Occasional | | | 5 | | |