Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000276 | HP:0000276 | Long face | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 96 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000276 | HP:0000276 | Long face | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 127 | | |
HP:0000276 | HP:0000276 | Long face | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0000276 | HP:0000276 | Long face | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040282 - Frequent | | | 175 | | |
HP:0000276 | HP:0000276 | Long face | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 95 | | |
HP:0000276 | HP:0000276 | Long face | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0000276 | HP:0000276 | Long face | 0 | AKT1 CL E G H | 207 | 391 | OMIM:176920 | Proteus syndrome, somatic | . | | | 54 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040283 - Occasional | | | 68 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ALKBH8 CL E G H | 91801 | 25189 | OMIM:618504 | Intellectual developmental disorder, autosomal recessive 71 | . | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:261250 | 16q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 102 | | |
HP:0000276 | HP:0000276 | Long face | 0 | AP1S2 CL E G H | 8905 | 560 | ORPHA:85335 | Fried syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000276 | HP:0000276 | Long face | 0 | AP1S2 CL E G H | 8905 | 560 | OMIM:304340 | Pettigrew syndrome | . | | | 13 | | |
HP:0000276 | HP:0000276 | Long face | 0 | AP1S2 CL E G H | 8905 | 560 | ORPHA:85329 | X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000276 | HP:0000276 | Long face | 0 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | HP:0040282 - Frequent | | | 3179 | | |
HP:0000276 | HP:0000276 | Long face | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000276 | HP:0000276 | Long face | 0 | APC2 CL E G H | 10297 | 24036 | OMIM:617169 | Sotos syndrome 3 | . | | | 1 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 62 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ASPH CL E G H | 444 | 757 | OMIM:601552 | Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | | | | 4 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | . | | | 145 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | . | | | 7 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:617183 | Harel-Yoon syndrome | . | | | 5 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ATAD3A CL E G H | 55210 | 25567 | ORPHA:496790 | Ocular anomalies-axonal neuropathy-developmental delay syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ATP7A CL E G H | 538 | 869 | OMIM:304150 | Occipital horn syndrome | . | | | 192 | | |
HP:0000276 | HP:0000276 | Long face | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0000276 | HP:0000276 | Long face | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0000276 | HP:0000276 | Long face | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0000276 | HP:0000276 | Long face | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0000276 | HP:0000276 | Long face | 0 | BCAS3 CL E G H | 54828 | 14347 | OMIM:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS | | | | 2 | | |
HP:0000276 | HP:0000276 | Long face | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | . | | | 101 | | |
HP:0000276 | HP:0000276 | Long face | 0 | BCORL1 CL E G H | 63035 | 25657 | OMIM:301029 | Shukla-Vernon syndrome | . | | | 17 | | |
HP:0000276 | HP:0000276 | Long face | 0 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000276 | HP:0000276 | Long face | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 99 | | |
HP:0000276 | HP:0000276 | Long face | 0 | BIN1 CL E G H | 274 | 1052 | OMIM:255200 | Myopathy, centronuclear, 2 | HP:0040283 - Occasional | | | 99 | | |
HP:0000276 | HP:0000276 | Long face | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 276 | | |
HP:0000276 | HP:0000276 | Long face | 0 | BRWD3 CL E G H | 254065 | 17342 | OMIM:300659 | MENTAL RETARDATION, X-LINKED 93; MRX93 | | | | 104 | | |
HP:0000276 | HP:0000276 | Long face | 0 | C12ORF57 CL E G H | 113246 | 29521 | ORPHA:1777 | Temtamy syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000276 | HP:0000276 | Long face | 0 | C12ORF57 CL E G H | 113246 | 29521 | OMIM:218340 | Temtamy syndrome | . | | | 13 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | . | | | 34 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CAMTA1 CL E G H | 23261 | 18806 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040282 - Frequent | | | 34 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 247 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 247 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | HP:0040283 - Occasional | | | 3 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CCDC174 CL E G H | 51244 | 28033 | OMIM:616816 | Hypotonia, infantile, with psychomotor retardation | | | | 1 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040282 - Frequent | | | 7 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 342 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 90 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040282 - Frequent | | | 90 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | . | | | 16 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 65 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CHRNB1 CL E G H | 1140 | 1961 | OMIM:616313 | Myasthenic syndrome, congenital, 2A, slow-channel | . | | | 53 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 139 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040282 - Frequent | | | 68 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | . | | | 68 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CLCN4 CL E G H | 1183 | 2022 | ORPHA:485350 | CLCN4-related X-linked intellectual disability syndrome | HP:0040284 - Very rare | | | 45 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CLCN4 CL E G H | 1183 | 2022 | OMIM:300114 | Raynaud-Claes syndrome | . | | | 45 | | |
HP:0000276 | HP:0000276 | Long face | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 6 | | |
HP:0000276 | HP:0000276 | Long face | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:618343 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | . | | | 749 | | |
HP:0000276 | HP:0000276 | Long face | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000276 | HP:0000276 | Long face | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | CPSF3 CL E G H | 51692 | 2326 | OMIM:619876 | | | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0000276 | HP:0000276 | Long face | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:618175 | WARBURG-CINOTTI SYNDROME; WRCN | | | | 45 | | |
HP:0000276 | HP:0000276 | Long face | 0 | DDX3X CL E G H | 1654 | 2745 | OMIM:300958 | MENTAL RETARDATION, X-LINKED 102; MRX102 | | | | 57 | | |
HP:0000276 | HP:0000276 | Long face | 0 | DOCK3 CL E G H | 1795 | 2989 | OMIM:618292 | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | . | | | 3 | | |
HP:0000276 | HP:0000276 | Long face | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0000276 | HP:0000276 | Long face | 0 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | . | | | 8 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040282 - Frequent | | | 20 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 158 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 199 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040282 - Frequent | | | 199 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 55 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040282 - Frequent | | | 55 | | |
HP:0000276 | HP:0000276 | Long face | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000276 | HP:0000276 | Long face | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 135 | | |
HP:0000276 | HP:0000276 | Long face | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:166780 | Otofaciocervical syndrome | . | | | 135 | | |
HP:0000276 | HP:0000276 | Long face | 0 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | . | | | 1361 | | |
HP:0000276 | HP:0000276 | Long face | 0 | FBXO11 CL E G H | 80204 | 13590 | OMIM:618089 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | . | | | 7 | | |
HP:0000276 | HP:0000276 | Long face | 0 | FGF3 CL E G H | 2248 | 3681 | ORPHA:90024 | Deafness with labyrinthine aplasia, microtia, and microdontia | HP:0040282 - Frequent | | | 18 | | |
HP:0000276 | HP:0000276 | Long face | 0 | FGF3 CL E G H | 2248 | 3681 | OMIM:610706 | Deafness, congenital, with inner ear agenesis, microtia, and microdontia | . | | | 18 | | |
HP:0000276 | HP:0000276 | Long face | 0 | FGF3 CL E G H | 2248 | 3681 | ORPHA:2791 | Otodental syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0000276 | HP:0000276 | Long face | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300624 | Fragile X mental retardation syndrome | . | | | 30 | | |
HP:0000276 | HP:0000276 | Long face | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:908 | Fragile X syndrome | HP:0040282 - Frequent | | | 30 | | |
HP:0000276 | HP:0000276 | Long face | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:449291 | Symptomatic form of fragile X syndrome in female carriers | HP:0040284 - Very rare | | | 30 | | |
HP:0000276 | HP:0000276 | Long face | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 128 | | |
HP:0000276 | HP:0000276 | Long face | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000276 | HP:0000276 | Long face | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 5 | | |
HP:0000276 | HP:0000276 | Long face | 0 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0000276 | HP:0000276 | Long face | 0 | HERC1 CL E G H | 8925 | 4867 | OMIM:617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | . | | | 16 | | |
HP:0000276 | HP:0000276 | Long face | 0 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0000276 | HP:0000276 | Long face | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000276 | HP:0000276 | Long face | 0 | HNRNPH1 CL E G H | 3187 | 5041 | OMIM:620083 | | | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | HNRNPK CL E G H | 3190 | 5044 | OMIM:616580 | Au-Kline syndrome | . | | | 8 | | |
HP:0000276 | HP:0000276 | Long face | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040282 - Frequent | | | 8 | | |
HP:0000276 | HP:0000276 | Long face | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040282 - Frequent | | | 8 | | |
HP:0000276 | HP:0000276 | Long face | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0000276 | HP:0000276 | Long face | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 31 | | |
HP:0000276 | HP:0000276 | Long face | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0000276 | HP:0000276 | Long face | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 111 | | |
HP:0000276 | HP:0000276 | Long face | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040282 - Frequent | | | 111 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 127 | | |
HP:0000276 | HP:0000276 | Long face | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000276 | HP:0000276 | Long face | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040282 - Frequent | | | 283 | | |
HP:0000276 | HP:0000276 | Long face | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0000276 | HP:0000276 | Long face | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040282 - Frequent | | | 283 | | |
HP:0000276 | HP:0000276 | Long face | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000276 | HP:0000276 | Long face | 0 | KATNIP CL E G H | 23247 | 29068 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 80 | | |
HP:0000276 | HP:0000276 | Long face | 0 | KCNK9 CL E G H | 51305 | 6283 | OMIM:612292 | BIRK-BAREL SYNDROME | | | | 4 | | |
HP:0000276 | HP:0000276 | Long face | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 24 | | |
HP:0000276 | HP:0000276 | Long face | 0 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 4 | | |
HP:0000276 | HP:0000276 | Long face | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 167 | | |
HP:0000276 | HP:0000276 | Long face | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0000276 | HP:0000276 | Long face | 0 | KMT2B CL E G H | 9757 | 15840 | ORPHA:589618 | Dystonia 28 | | | | 11 | | |
HP:0000276 | HP:0000276 | Long face | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0000276 | HP:0000276 | Long face | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:620089 | | | | | 2 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | HP:0040284 - Very rare | | | 93 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MAN1B1 CL E G H | 11253 | 6823 | OMIM:614202 | Rafiq syndrome | | | | 93 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 134 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 178 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | | | | 4 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:309520 | Lujan-Fryns syndrome | . | | | 228 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | | | | 228 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MEIS2 CL E G H | 4212 | 7001 | ORPHA:261190 | 15q14 microdeletion syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MGP CL E G H | 4256 | 7060 | OMIM:245150 | Keutel syndrome | . | | | 33 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MGP CL E G H | 4256 | 7060 | ORPHA:85202 | Keutel syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MID2 CL E G H | 11043 | 7096 | OMIM:300928 | MENTAL RETARDATION, X-LINKED 101; MRX101 | | | | 7 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040282 - Frequent | | | 127 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040284 - Very rare | | | 101 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | 101 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | . | | | 96 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MOCS2 CL E G H | 4338 | 7193 | OMIM:252160 | Molybdenum cofactor deficiency, complementation group B | . | | | 26 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MRAS CL E G H | 22808 | 7227 | OMIM:618499 | NOONAN SYNDROME 11; NS11 | | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | MSTO1 CL E G H | 55154 | 29678 | ORPHA:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | HP:0040282 - Frequent | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | MSTO1 CL E G H | 55154 | 29678 | OMIM:617675 | Myopathy, mitochondrial, and ataxia | . | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | MTM1 CL E G H | 4534 | 7448 | OMIM:310400 | Myopathy, centronuclear, X-linked | . | | | 185 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MTM1 CL E G H | 4534 | 7448 | ORPHA:596 | X-linked centronuclear myopathy | | | | 185 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1269 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 131 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | HP:0040282 - Frequent | | | 217 | | |
HP:0000276 | HP:0000276 | Long face | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0000276 | HP:0000276 | Long face | 0 | NBAS CL E G H | 51594 | 15625 | OMIM:614800 | Short stature, optic nerve atrophy, and pelger-huet anomaly | . | | | 25 | | |
HP:0000276 | HP:0000276 | Long face | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0000276 | HP:0000276 | Long face | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040283 - Occasional | | | 1952 | | |
HP:0000276 | HP:0000276 | Long face | 0 | NFIB CL E G H | 4781 | 7785 | OMIM:618286 | Macrocephaly, acquired, with impaired intellectual development | . | | | 1 | | |
HP:0000276 | HP:0000276 | Long face | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:447980 | 19p13.3 microduplication syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0000276 | HP:0000276 | Long face | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:614753 | Sotos syndrome 2 | . | | | 40 | | |
HP:0000276 | HP:0000276 | Long face | 0 | NHS CL E G H | 4810 | 7820 | OMIM:302350 | Nance-Horan syndrome | . | | | 88 | | |
HP:0000276 | HP:0000276 | Long face | 0 | NHS CL E G H | 4810 | 7820 | ORPHA:627 | Nance-Horan syndrome | HP:0040281 - Very frequent | | | 88 | | |
HP:0000276 | HP:0000276 | Long face | 0 | NKAP CL E G H | 79576 | 29873 | OMIM:301039 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD | | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0000276 | HP:0000276 | Long face | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0000276 | HP:0000276 | Long face | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040282 - Frequent | | | 85 | | |
HP:0000276 | HP:0000276 | Long face | 0 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0000276 | HP:0000276 | Long face | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 544 | | |
HP:0000276 | HP:0000276 | Long face | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0000276 | HP:0000276 | Long face | 0 | NSDHL CL E G H | 50814 | 13398 | ORPHA:251383 | CK syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0000276 | HP:0000276 | Long face | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:300831 | Ck syndrome | . | | | 34 | | |
HP:0000276 | HP:0000276 | Long face | 0 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | . | | | 84 | | |
HP:0000276 | HP:0000276 | Long face | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040282 - Frequent | | | 88 | | |
HP:0000276 | HP:0000276 | Long face | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 201 | | |
HP:0000276 | HP:0000276 | Long face | 0 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | | | | 55 | | |
HP:0000276 | HP:0000276 | Long face | 0 | 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:0000276 | HP:0000276 | Long face | 0 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | . | | | 4 | | |
HP:0000276 | HP:0000276 | Long face | 0 | PAK1 CL E G H | 5058 | 8590 | OMIM:618158 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | | | | | | |
HP:0000276 | HP:0000276 | Long face | 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:0000276 | HP:0000276 | Long face | 0 | PCDHGC4 CL E G H | 56098 | 8717 | OMIM:619880 | | | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 1 | | |
HP:0000276 | HP:0000276 | Long face | 0 | PHF8 CL E G H | 23133 | 20672 | OMIM:300263 | Siderius X-linked mental retardation syndrome | | | | 23 | | |
HP:0000276 | HP:0000276 | Long face | 0 | PHF8 CL E G H | 23133 | 20672 | ORPHA:85287 | X-linked intellectual disability, Siderius type | HP:0040281 - Very frequent | | | 23 | | |
HP:0000276 | HP:0000276 | Long face | 0 | PIBF1 CL E G H | 10464 | 23352 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000276 | HP:0000276 | Long face | 0 | PIGK CL E G H | 10026 | 8965 | OMIM:618879 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS | | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040282 - Frequent | | | 150 | | |
HP:0000276 | HP:0000276 | Long face | 0 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | . | | | 10 | | |
HP:0000276 | HP:0000276 | Long face | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | . | | | 2 | | |
HP:0000276 | HP:0000276 | Long face | 0 | POU4F1 CL E G H | 5457 | 9218 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040282 - Frequent | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000276 | HP:0000276 | Long face | 0 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | . | | | 28 | | |
HP:0000276 | HP:0000276 | Long face | 0 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93947 | X-linked intellectual disability, Golabi-Ito-Hall type | HP:0040281 - Very frequent | | | 28 | | |
HP:0000276 | HP:0000276 | Long face | 0 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93945 | X-linked intellectual disability, Porteous type | HP:0040282 - Frequent | | | 28 | | |
HP:0000276 | HP:0000276 | Long face | 0 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93950 | X-linked intellectual disability, Sutherland-Haan type | HP:0040283 - Occasional | | | 28 | | |
HP:0000276 | HP:0000276 | Long face | 0 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | PRKACA CL E G H | 5566 | 9380 | OMIM:619142 | CARDIOACROFACIAL DYSPLASIA 1; CAFD1 | | | | 2 | | |
HP:0000276 | HP:0000276 | Long face | 0 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0000276 | HP:0000276 | Long face | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000276 | HP:0000276 | Long face | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:438216 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | HP:0040283 - Occasional | | | 53 | | |
HP:0000276 | HP:0000276 | Long face | 0 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0000276 | HP:0000276 | Long face | 0 | RAB39B CL E G H | 116442 | 16499 | OMIM:300271 | Mental retardation, X-linked 72 | . | | | 34 | | |
HP:0000276 | HP:0000276 | Long face | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | . | | | 73 | | |
HP:0000276 | HP:0000276 | Long face | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:266280 | Rapadilino syndrome | . | | | 445 | | |
HP:0000276 | HP:0000276 | Long face | 0 | RIC1 CL E G H | 57589 | 17686 | OMIM:618761 | CATIFA SYNDROME; CATIFA | | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 167 | | |
HP:0000276 | HP:0000276 | Long face | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040282 - Frequent | | | 167 | | |
HP:0000276 | HP:0000276 | Long face | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000276 | HP:0000276 | Long face | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | RUSC2 CL E G H | 9853 | 23625 | OMIM:617773 | Mental retardation, autosomal recessive 61 | . | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 1200 | | |
HP:0000276 | HP:0000276 | Long face | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1200 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | . | | | 34 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040283 - Occasional | | | 34 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SCUBE3 CL E G H | 222663 | 13655 | OMIM:619184 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2 | | | | 1 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 144 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:436151 | Intellectual disability-expressive aphasia-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 143 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | . | | | 143 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SETD2 CL E G H | 29072 | 18420 | OMIM:616831 | Luscan-Lumish syndrome | | | | 60 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | HP:0040283 - Occasional | | | 83 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 50 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | . | | | 163 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SLC16A2 CL E G H | 6567 | 10923 | ORPHA:59 | Allan-Herndon-Dudley syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 2 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 28 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SLC2A10 CL E G H | 81031 | 13444 | OMIM:208050 | Arterial tortuosity syndrome | . | | | 178 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 9 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | . | | | 122 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | HP:0040281 - Very frequent | | | 93 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | . | | | 93 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SLC9A7 CL E G H | 84679 | 17123 | OMIM:301024 | Intellectual developmental disorder, X-linked 108 | . | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619657 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8 | | | | 7 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619656 | LOEYS-DIETZ SYNDROME 6; LDS6 | | | | 7 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:284984 | Aneurysm-osteoarthritis syndrome | HP:0040282 - Frequent | | | 260 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | HP:0040282 - Frequent | | | 19 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 2 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SNAP29 CL E G H | 9342 | 11133 | ORPHA:66631 | CEDNIK syndrome | HP:0040281 - Very frequent | | | 94 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SNAP29 CL E G H | 9342 | 11133 | OMIM:609528 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | | | | 94 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SPEG CL E G H | 10290 | 16901 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 20 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:619595 | DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA | | | | 138 | | |
HP:0000276 | HP:0000276 | Long face | 0 | STEEP1 CL E G H | 63932 | 26239 | OMIM:301013 | MENTAL RETARDATION, X-LINKED 107; MRX107 | | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | STRADA CL E G H | 92335 | 30172 | OMIM:611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | | | | 6 | | |
HP:0000276 | HP:0000276 | Long face | 0 | STT3A CL E G H | 3703 | 6172 | OMIM:619714 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD | | | | 21 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 124 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:544254 | SYNGAP1-related developmental and epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0000276 | HP:0000276 | Long face | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 4 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TAB2 CL E G H | 23118 | 17075 | ORPHA:228410 | Polyvalvular heart disease syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:480907 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | . | | | 1 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 76 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 31 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TET3 CL E G H | 200424 | 28313 | OMIM:618798 | BECK-FAHRNER SYNDROME; BEFAHRS | | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TLK2 CL E G H | 11011 | 11842 | OMIM:618050 | Mental retardation, autosomal dominant 57 | . | | | 1 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 39 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 45 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 45 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TMEM218 CL E G H | 219854 | 27344 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 33 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 82 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 82 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040282 - Frequent | | | 82 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 166 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TOGARAM1 CL E G H | 23116 | 19959 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040283 - Occasional | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 61 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 54 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 108 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:609284 | Nemaline myopathy 1 | . | | | 108 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TPRKB CL E G H | 51002 | 24259 | OMIM:617731 | Galloway-Mowat syndrome 5 | | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | TRAIP CL E G H | 10293 | 30764 | OMIM:616777 | Seckel syndrome 9 | | | | 2 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TSPAN7 CL E G H | 7102 | 11854 | OMIM:300210 | MENTAL RETARDATION, X-LINKED 58; MRX58 | | | | 26 | | |
HP:0000276 | HP:0000276 | Long face | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 7128 | | |
HP:0000276 | HP:0000276 | Long face | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | . | | | 13 | | |
HP:0000276 | HP:0000276 | Long face | 0 | UBE3B CL E G H | 89910 | 13478 | ORPHA:2707 | Oculocerebrofacial syndrome, Kaufman type | HP:0040282 - Frequent | | | 13 | | |
HP:0000276 | HP:0000276 | Long face | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000276 | HP:0000276 | Long face | 0 | UPF3B CL E G H | 65109 | 20439 | OMIM:300676 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 | | | | 33 | | |
HP:0000276 | HP:0000276 | Long face | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 2 | | |
HP:0000276 | HP:0000276 | Long face | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | | | | 13 | | |
HP:0000276 | HP:0000276 | Long face | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | . | | | 9 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 49 | | |
HP:0000276 | HP:0000276 | Long face | 0 | ZNF711 CL E G H | 7552 | 13128 | OMIM:300803 | MENTAL RETARDATION, X-LINKED 97; MRX97 | | | | 34 | | |