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:0000316 | HP:0000316 | Hypertelorism | 0 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | HP:0040283 - Occasional | | | 53 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | . | | | 120 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ACOX1 CL E G H | 51 | 119 | ORPHA:2971 | Peroxisomal acyl-CoA oxidase deficiency | HP:0040282 - Frequent | | | 120 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ACTA2 CL E G H | 59 | 130 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 94 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | | | | 72 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ACTB CL E G H | 60 | 132 | ORPHA:79107 | Developmental malformations-deafness-dystonia syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040281 - Very frequent | | | 123 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ACTG1 CL E G H | 71 | 144 | OMIM:614583 | Baraitser-Winter syndrome 2 | | | | 123 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ACTL6B CL E G H | 51412 | 160 | OMIM:618470 | Intellectual developmental disorder with severe speech and ambulation defects | . | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ACY1 CL E G H | 95 | 177 | OMIM:609924 | Aminoacylase 1 deficiency | . | | | 13 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ACY1 CL E G H | 95 | 177 | ORPHA:137754 | Neurological conditions associated with aminoacylase 1 deficiency | HP:0040284 - Very rare | | | 13 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ADAMTS3 CL E G H | 9508 | 219 | OMIM:618154 | Hennekam lymphangiectasia-lymphedema syndrome 3 | . | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ADGRG6 CL E G H | 57211 | 13841 | OMIM:616503 | Lethal congenital contracture syndrome 9 | . | | | 5 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ADK CL E G H | 132 | 257 | OMIM:614300 | Hypermethioninemia due to adenosine kinase deficiency | . | | | 26 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | . | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | HP:0040281 - Very frequent | | | 76 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | AHDC1 CL E G H | 27245 | 25230 | ORPHA:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | AHDC1 CL E G H | 27245 | 25230 | OMIM:615829 | Xia-Gibbs syndrome | . | | | 36 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | . | | | 60 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040282 - Frequent | | | 54 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | AKT3 CL E G H | 10000 | 393 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | . | | | 89 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ALDH6A1 CL E G H | 4329 | 7179 | OMIM:614105 | Methylmalonate semialdehyde dehydrogenase deficiency | . | | | 35 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ALG1 CL E G H | 56052 | 18294 | OMIM:608540 | Congenital disorder of glycosylation, type Ik | . | | | 58 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ALG13 CL E G H | 79868 | 30881 | ORPHA:324422 | ALG13-CDG | HP:0040283 - Occasional | | | 96 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | . | | | 96 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ALG6 CL E G H | 29929 | 23157 | ORPHA:79320 | ALG6-CDG | HP:0040283 - Occasional | | | 66 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | HP:0040283 - Occasional | | | 46 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | . | | | 46 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | . | | | 93 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:263210 | Gillessen-Kaesbach-Nishimura syndrome | | | | 93 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ALX1 CL E G H | 8092 | 1494 | OMIM:613456 | Frontonasal dysplasia 3 | . | | | 5 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | . | | | 9 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ALX3 CL E G H | 257 | 449 | ORPHA:391474 | Frontorhiny | HP:0040282 - Frequent | | | 9 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | . | | | 132 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ALX4 CL E G H | 60529 | 450 | ORPHA:228390 | Frontonasal dysplasia-alopecia-genital anomalies syndrome | HP:0040281 - Very frequent | | | 132 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:609597 | Parietal foramina 2 | HP:0040283 - Occasional | | | 132 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ANAPC7 CL E G H | 51434 | 17380 | OMIM:619699 | FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ANKH CL E G H | 56172 | 15492 | ORPHA:1522 | Craniometaphyseal dysplasia | HP:0040281 - Very frequent | | | 164 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ANKH CL E G H | 56172 | 15492 | OMIM:123000 | Craniometaphyseal dysplasia, autosomal dominant | . | | | 164 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | . | | | 102 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | . | | | 8 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | AP1G1 CL E G H | 164 | 555 | OMIM:619548 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | AP4S1 CL E G H | 11154 | 575 | OMIM:614067 | Spastic paraplegia 52, autosomal recessive | . | | | 18 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | APC CL E G H | 324 | 583 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040282 - Frequent | | | 3179 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | HP:0040282 - Frequent | | | 3179 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:251056 | 6q25 microdeletion syndrome | HP:0040282 - Frequent | | | 219 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | . | | | 145 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | . | | | 7 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 140 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | . | | | 140 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | . | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ATP6V1E1 CL E G H | 529 | 857 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ATP6V1E1 CL E G H | 529 | 857 | OMIM:617402 | Cutis laxa, autosomal recessive, type IIC | . | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | . | | | 169 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | AUTS2 CL E G H | 26053 | 14262 | ORPHA:352490 | Autism spectrum disorder due to AUTS2 deficiency | HP:0040282 - Frequent | | | 61 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | . | | | 61 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | AVP CL E G H | 551 | 894 | OMIM:125700 | Diabetes insipidus, Neurohypophyseal type | . | | | 22 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:2725 | Eye defects-arachnodactyly-cardiopathy syndrome | HP:0040281 - Very frequent | | | 38 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 5 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | | | | 29 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BBS7 CL E G H | 55212 | 18758 | OMIM:615984 | BARDET-BIEDL SYNDROME 7; BBS7 | | | | 66 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BCAS3 CL E G H | 54828 | 14347 | OMIM:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS | | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | . | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | . | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BCORL1 CL E G H | 63035 | 25657 | OMIM:301029 | Shukla-Vernon syndrome | . | | | 17 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BGN CL E G H | 633 | 1044 | OMIM:300989 | Meester-Loeys syndrome | . | | | 7 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 4 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | . | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BMP2 CL E G H | 650 | 1069 | ORPHA:261295 | 20p12.3 microdeletion syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | . | | | 78 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040282 - Frequent | | | 385 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BNC2 CL E G H | 54796 | 30988 | ORPHA:93110 | Posterior urethral valve | HP:0040284 - Very rare | | | 22 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BPTF CL E G H | 2186 | 3581 | OMIM:617755 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL | | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040281 - Very frequent | | | 276 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 5769 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BRCA1 CL E G H | 672 | 1100 | OMIM:617883 | Fanconi anemia, complementation group S | . | | | 5769 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 7642 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BRCC3 CL E G H | 79184 | 24185 | ORPHA:280679 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1086 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BRPF1 CL E G H | 7862 | 14255 | OMIM:617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | . | | | 10 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | C12ORF57 CL E G H | 113246 | 29521 | ORPHA:1777 | Temtamy syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | C12ORF57 CL E G H | 113246 | 29521 | OMIM:218340 | Temtamy syndrome | . | | | 13 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:618087 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | . | | | 32 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | . | | | 34 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300422 | FG SYNDROME 4; FGS4 | | | | 118 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | | | | 118 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:163937 | X-linked intellectual disability, Najm type | HP:0040282 - Frequent | | | 118 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 317 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | . | | | 317 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 247 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040281 - Very frequent | | | 147 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CCDC22 CL E G H | 28952 | 28909 | OMIM:300963 | Ritscher-Schinzel syndrome 2 | . | | | 33 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CCDC32 CL E G H | 90416 | 28295 | OMIM:619123 | CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS | | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CCND2 CL E G H | 894 | 1583 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CCNK CL E G H | 8812 | 1596 | OMIM:618147 | Intellectual developmental disorder with hypertelorism and distinctive facies | . | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 9 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | . | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CDCA7 CL E G H | 83879 | 14628 | ORPHA:2268 | ICF syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CDCA7 CL E G H | 83879 | 14628 | OMIM:616910 | Immunodeficiency-Centromeric instability-facial anomalies syndrome 3 | | | | 4 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CDH1 CL E G H | 999 | 1748 | ORPHA:1997 | Blepharo-cheilo-odontic syndrome | HP:0040282 - Frequent | | | 1003 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CDH1 CL E G H | 999 | 1748 | OMIM:119580 | Blepharocheilodontic syndrome 1 | . | | | 1003 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | . | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:619736 | TEEBI HYPERTELORISM SYNDROME 2; TBHS2 | | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | . | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | . | | | 8 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CDK19 CL E G H | 23097 | 19338 | OMIM:618916 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87 | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | . | | | 27 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CENPJ CL E G H | 55835 | 17272 | OMIM:608393 | Microcephaly, primary autosomal recessive, 6 | | | | 161 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CEP120 CL E G H | 153241 | 26690 | OMIM:616300 | Short-Rib thoracic dysplasia 13 with or without polydactyly | . | | | 7 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 342 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CHD3 CL E G H | 1107 | 1918 | OMIM:618205 | Snijders blok-campeau syndrome | . | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CHD4 CL E G H | 1108 | 1919 | OMIM:617159 | Sifrim-Hitz-Weiss syndrome | . | | | 14 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040283 - Occasional | | | 515 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 515 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CHD8 CL E G H | 57680 | 20153 | OMIM:615032 | AUTISM, SUSCEPTIBILITY TO, 18; AUTS18 | | | | 72 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 74 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CHRNA7 CL E G H | 1139 | 1960 | OMIM:612001 | Chromosome 15q13.3 microdeletion syndrome | | | | 52 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 88 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040282 - Frequent | | | 68 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | . | | | 68 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 68 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | | | | 27 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 27 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CHST3 CL E G H | 9469 | 1971 | ORPHA:263463 | CHST3-related skeletal dysplasia | HP:0040281 - Very frequent | | | 165 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 165 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CHSY1 CL E G H | 22856 | 17198 | OMIM:605282 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CIT CL E G H | 11113 | 1985 | OMIM:617090 | Microcephaly 17, primary, autosomal recessive | . | | | 15 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CLCN6 CL E G H | 1185 | 2024 | OMIM:619173 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:618541 | Hypopigmentation, organomegaly, and delayed myelination and development | | | | 102 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CNOT3 CL E G H | 4849 | 7879 | OMIM:618672 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CNTN1 CL E G H | 1272 | 2171 | OMIM:612540 | Myopathy, congenital, compton-north | . | | | 40 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | HP:0040283 - Occasional | | | 52 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | . | | | 52 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:2021 | Fibrochondrogenesis | HP:0040283 - Occasional | | | 215 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | . | | | 215 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | HP:0040281 - Very frequent | | | 215 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:2021 | Fibrochondrogenesis | HP:0040283 - Occasional | | | 222 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 373 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 243 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | COL27A1 CL E G H | 85301 | 22986 | OMIM:615155 | Steel syndrome | . | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93346 | Spondyloepimetaphyseal dysplasia congenita, Strudwick type | HP:0040282 - Frequent | | | 284 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:94068 | Spondyloepiphyseal dysplasia congenita | HP:0040283 - Occasional | | | 284 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 749 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | COLEC10 CL E G H | 10584 | 2220 | ORPHA:293843 | 3MC syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | COLEC10 CL E G H | 10584 | 2220 | OMIM:248340 | 3MC syndrome 3 | | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | COLEC11 CL E G H | 78989 | 17213 | ORPHA:293843 | 3MC syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | COLEC11 CL E G H | 78989 | 17213 | OMIM:265050 | 3mc syndrome 2 | . | | | 9 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:300887 | Linear skin defects with multiple congenital anomalies 2 | HP:0040282 - Frequent | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | . | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:617976 | Epileptic encephalopathy, early infantile, 63 | . | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040281 - Very frequent | | | 291 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CSNK2A1 CL E G H | 1457 | 2457 | OMIM:617062 | Okur-Chung neurodevelopmental syndrome | . | | | 12 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040283 - Occasional | | | 20 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CTCF CL E G H | 10664 | 13723 | OMIM:615502 | Mental retardation, autosomal dominant 21 | | | | 20 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CTNND1 CL E G H | 1500 | 2515 | ORPHA:1997 | Blepharo-cheilo-odontic syndrome | HP:0040282 - Frequent | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CTNND1 CL E G H | 1500 | 2515 | OMIM:617681 | Blepharocheilodontic syndrome 2 | . | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CTNND2 CL E G H | 1501 | 2516 | ORPHA:281 | Monosomy 5p | HP:0040282 - Frequent | | | 15 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | . | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | . | | | 27 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | . | | | 45 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DDX3X CL E G H | 1654 | 2745 | OMIM:300958 | MENTAL RETARDATION, X-LINKED 102; MRX102 | | | | 57 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | HP:0040282 - Frequent | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | . | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040283 - Occasional | | | 159 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DHX37 CL E G H | 57647 | 17210 | OMIM:618731 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC | | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DICER1 CL E G H | 23405 | 17098 | OMIM:618272 | Global developmental delay, lung cysts, overgrowth, and wilms tumor | . | | | 670 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DLX4 CL E G H | 1748 | 2917 | OMIM:616788 | Orofacial cleft 15 | | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | . | | | 5 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:404443 | Tatton-Brown-Rahman syndrome | HP:0040284 - Very rare | | | 44 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DNMT3A CL E G H | 1788 | 2978 | OMIM:615879 | Tatton-Brown-Rahman syndrome | | | | 44 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:2268 | ICF syndrome | HP:0040283 - Occasional | | | 79 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | . | | | 79 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DOCK6 CL E G H | 57572 | 19189 | OMIM:614219 | Adams-Oliver syndrome 2 | . | | | 18 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040282 - Frequent | | | 91 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | . | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DPH1 CL E G H | 1801 | 3003 | OMIM:616901 | Developmental delay with short stature, dysmorphic features, and sparse hair | . | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040282 - Frequent | | | 27 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040283 - Occasional | | | 144 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DSE CL E G H | 29940 | 21144 | OMIM:615539 | Ehlers-Danlos syndrome, musculocontractural type, 2 | . | | | 13 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 4 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 14 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | DVL3 CL E G H | 1857 | 3087 | OMIM:616894 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3 | | | | 5 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EDEM3 CL E G H | 80267 | 16787 | OMIM:619493 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | | | | 4 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EED CL E G H | 8726 | 3188 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EFEMP2 CL E G H | 30008 | 3219 | OMIM:614437 | Cutis laxa, autosomal recessive, type IB | . | | | 45 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | HP:0040281 - Very frequent | | | 27 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040281 - Very frequent | | | 223 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | . | | | 65 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EIF5A CL E G H | 1984 | 3300 | OMIM:619376 | FAUNDES-BANKA SYNDROME; FABAS | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 172 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EMC1 CL E G H | 23065 | 28957 | OMIM:616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | | | | 5 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040281 - Very frequent | | | 250 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EPB41L1 CL E G H | 2036 | 3378 | OMIM:614257 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11 | | | | 29 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EPG5 CL E G H | 57724 | 29331 | ORPHA:1493 | Vici syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 158 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ERF CL E G H | 2077 | 3444 | OMIM:617180 | Chitayat syndrome | . | | | 12 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ERF CL E G H | 2077 | 3444 | OMIM:600775 | Craniosynostosis 4 | . | | | 12 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ERF CL E G H | 2077 | 3444 | ORPHA:207 | Crouzon disease | HP:0040282 - Frequent | | | 12 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ERGIC1 CL E G H | 57222 | 29205 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:216100 | Cleft lip/palate with abnormal thumbs and microcephaly | . | | | 92 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:2319 | Juberg-Hayward syndrome | HP:0040282 - Frequent | | | 92 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | HP:0040281 - Very frequent | | | 92 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | . | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EXT2 CL E G H | 2132 | 3513 | OMIM:616682 | Seizures, scoliosis, and macrocephaly/microcephaly syndrome | . | | | 102 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EXT2 CL E G H | 2132 | 3513 | ORPHA:466926 | Seizures-scoliosis-macrocephaly syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | HP:0040283 - Occasional | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EZH2 CL E G H | 2146 | 3527 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 81 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | . | | | 35 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 340 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 410 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 147 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 87 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 157 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 53 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | HP:0040283 - Occasional | | | 53 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 107 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:438178 | Fatty acyl-CoA reductase 1 deficiency | HP:0040283 - Occasional | | | 7 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FAR1 CL E G H | 84188 | 26222 | OMIM:616154 | PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD | | | | 7 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:616006 | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2 | | | | 114 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040281 - Very frequent | | | 114 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 1361 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:614185 | GELEOPHYSIC DYSPLASIA 2; GPHYSD2 | | | | 1361 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040281 - Very frequent | | | 1361 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FBXO11 CL E G H | 80204 | 13590 | OMIM:618089 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | . | | | 7 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FBXO31 CL E G H | 79791 | 16510 | OMIM:615979 | Mental retardation, autosomal recessive 45 | | | | 8 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | HP:0040281 - Very frequent | | | 62 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGF20 CL E G H | 26281 | 3677 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGF3 CL E G H | 2248 | 3681 | ORPHA:90024 | Deafness with labyrinthine aplasia, microtia, and microdontia | HP:0040283 - Occasional | | | 18 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 17 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2117 | Hartsfield syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:615465 | Hartsfield syndrome | . | | | 172 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 172 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:166250 | Osteoglophonic dysplasia | . | | | 172 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2645 | Osteoglosphonic dysplasia | HP:0040281 - Very frequent | | | 172 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:101600 | Pfeiffer syndrome | . | | | 172 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93258 | Pfeiffer syndrome type 1 | HP:0040281 - Very frequent | | | 172 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:87 | Apert syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | . | | | 175 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123790 | Beare-Stevenson cutis gyrata syndrome | | | | 175 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:614592 | Bent bone dysplasia syndrome | . | | | 175 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:207 | Crouzon disease | HP:0040282 - Frequent | | | 175 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123500 | Crouzon syndrome | . | | | 175 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:168624 | Familial scaphocephaly syndrome, McGillivray type | HP:0040281 - Very frequent | | | 175 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:313855 | FGFR2-related bent bone dysplasia | HP:0040281 - Very frequent | | | 175 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1540 | Jackson-Weiss syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101600 | Pfeiffer syndrome | . | | | 175 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93258 | Pfeiffer syndrome type 1 | HP:0040281 - Very frequent | | | 175 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93259 | Pfeiffer syndrome type 2 | HP:0040281 - Very frequent | | | 175 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93260 | Pfeiffer syndrome type 3 | HP:0040281 - Very frequent | | | 175 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 175 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:612247 | Crouzon syndrome with acanthosis nigricans | . | | | 145 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:93262 | Crouzon syndrome-acanthosis nigricans syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:35099 | Isolated brachycephaly | HP:0040283 - Occasional | | | 145 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:602849 | Muenke syndrome | | | | 145 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:53271 | Muenke syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FH CL E G H | 2271 | 3700 | OMIM:606812 | Fumarase deficiency | . | | | 301 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FIBP CL E G H | 9158 | 3705 | OMIM:617107 | Thauvin-Robinet-Faivre syndrome | . | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:610883 | Potocki-Lupski syndrome | | | | 332 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:314400 | Cardiac valvular dysplasia, X-linked | HP:0040284 - Very rare | | | 493 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:555877 | FLNA-related X-linked myxomatous valvular dysplasia | | | | 493 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040281 - Very frequent | | | 493 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:305620 | Frontometaphyseal dysplasia | . | | | 493 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300048 | Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | . | | | 493 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:2484 | Melnick-Needles syndrome | HP:0040281 - Very frequent | | | 493 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | . | | | 493 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90650 | Otopalatodigital syndrome type 1 | HP:0040281 - Very frequent | | | 493 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | HP:0040281 - Very frequent | | | 493 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | . | | | 493 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | . | | | 493 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300244 | Terminal osseous dysplasia | . | | | 493 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:88630 | Terminal osseous dysplasia-pigmentary defects syndrome | | | | 493 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:1190 | Atelosteogenesis type I | HP:0040283 - Occasional | | | 233 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | | | | 233 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | . | | | 233 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:503 | Larsen syndrome | HP:0040281 - Very frequent | | | 233 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | . | | | 233 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:602482 | Axenfeld-rieger syndrome, type 3 | . | | | 63 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 23 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | HP:0040282 - Frequent | | | 184 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FOXP1 CL E G H | 27086 | 3823 | OMIM:613670 | Mental retardation with language impairment and with or without autistic features | | | | 184 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 353 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | . | | | 353 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FREM1 CL E G H | 158326 | 23399 | OMIM:248450 | Manitoba oculotrichoanal syndrome | . | | | 198 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FREM1 CL E G H | 158326 | 23399 | ORPHA:2717 | Oculotrichoanal syndrome | HP:0040281 - Very frequent | | | 198 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FREM1 CL E G H | 158326 | 23399 | OMIM:614485 | Trigonocephaly 2 | HP:0040283 - Occasional | | | 198 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 263 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | . | | | 43 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:93328 | Autosomal dominant omodysplasia | HP:0040282 - Frequent | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 29 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:217095 | Conotruncal heart malformations | HP:0040283 - Occasional | | | 37 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GATAD2B CL E G H | 57459 | 30778 | OMIM:615074 | Mental retardation, autosomal dominant 18 | . | | | 33 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GFRA1 CL E G H | 2674 | 4243 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1522 | Craniometaphyseal dysplasia | HP:0040281 - Very frequent | | | 68 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:218400 | Craniometaphyseal dysplasia, autosomal recessive | . | | | 68 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040282 - Frequent | | | 68 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GK CL E G H | 2710 | 4289 | OMIM:307030 | Glycerol kinase deficiency | . | | | 13 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | . | | | 120 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GLE1 CL E G H | 2733 | 4315 | ORPHA:1486 | Lethal congenital contracture syndrome type 1 | HP:0040281 - Very frequent | | | 45 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:36 | Acrocallosal syndrome | HP:0040281 - Very frequent | | | 270 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | . | | | 173 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | HP:0040281 - Very frequent | | | 173 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 15 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 92 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GON7 CL E G H | 84520 | 20356 | OMIM:619603 | GALLOWAY-MOWAT SYNDROME 9; GAMOS9 | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GPAA1 CL E G H | 8733 | 4446 | ORPHA:529665 | Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome | HP:0040282 - Frequent | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040281 - Very frequent | | | 73 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:301026 | Keipert syndrome | . | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GREB1L CL E G H | 80000 | 31042 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 80 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | H4C11 CL E G H | 8363 | 4785 | OMIM:619759 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2 | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HACE1 CL E G H | 57531 | 21033 | ORPHA:464282 | Spastic paraplegia-severe developmental delay-epilepsy syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HBA1 CL E G H | 3039 | 4823 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 200 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HBA2 CL E G H | 3040 | 4824 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 88 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | . | | | 37 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HELLS CL E G H | 3070 | 4861 | ORPHA:2268 | ICF syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HELLS CL E G H | 3070 | 4861 | OMIM:616911 | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | . | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HERC1 CL E G H | 8925 | 4867 | OMIM:617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | . | | | 16 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HEY2 CL E G H | 23493 | 4881 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HID1 CL E G H | 283987 | 15736 | OMIM:619983 | | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HNRNPU CL E G H | 3192 | 5048 | ORPHA:238769 | 1q44 microdeletion syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:137550 | Melanocytic nevus syndrome, congenital | . | | | 113 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 8 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | | | | 115 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:617866 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18 | | | | 11 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 7 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | IL11RA CL E G H | 3590 | 5967 | OMIM:614188 | Craniosynostosis and dental anomalies | HP:0040283 - Occasional | | | 8 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | IL1RAPL1 CL E G H | 11141 | 5996 | OMIM:300143 | Mental retardation, X-linked 21 | . | | | 42 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619750 | IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94 | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | INPPL1 CL E G H | 3636 | 6080 | OMIM:258480 | OPSISMODYSPLASIA | . | | | 18 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | HP:0040283 - Occasional | | | 229 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | INTS1 CL E G H | 26173 | 24555 | OMIM:618571 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | INTS8 CL E G H | 55656 | 26048 | OMIM:618572 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS | | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | IPO8 CL E G H | 10526 | 9853 | ORPHA:60030 | Loeys-Dietz syndrome | HP:0040282 - Frequent | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 119 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | . | | | 4 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ITGA3 CL E G H | 3675 | 6139 | OMIM:614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | . | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ITGA8 CL E G H | 8516 | 6144 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | 4 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ITGA8 CL E G H | 8516 | 6144 | OMIM:191830 | Renal hypodysplasia/aplasia 1 | . | | | 4 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KAT6B CL E G H | 23522 | 17582 | ORPHA:85201 | Genitopatellar syndrome | HP:0040282 - Frequent | | | 141 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KATNB1 CL E G H | 10300 | 6217 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040281 - Very frequent | | | 10 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KATNIP CL E G H | 23247 | 29068 | OMIM:616784 | JOUBERT SYNDROME 26; JBTS26 | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 80 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | . | | | 13 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | . | | | 193 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 193 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 128 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 4 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:617127 | Orofaciodigital syndrome XV | . | | | 4 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:36 | Acrocallosal syndrome | HP:0040281 - Very frequent | | | 167 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:607131 | Al-Gazali-Bakalinova syndrome | . | | | 167 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:166024 | Multiple epiphyseal dysplasia, Al-Gazali type | HP:0040281 - Very frequent | | | 167 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 167 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KIFBP CL E G H | 26128 | 23419 | ORPHA:66629 | Goldberg-Shprintzen megacolon syndrome | HP:0040283 - Occasional | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 14 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KLF13 CL E G H | 51621 | 13672 | OMIM:612001 | Chromosome 15q13.3 microdeletion syndrome | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KMT2A CL E G H | 4297 | 7132 | OMIM:605130 | Wiedemann-Steiner syndrome | . | | | 91 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KNL1 CL E G H | 57082 | 24054 | OMIM:604321 | Microcephaly 4, primary, autosomal recessive | . | | | 112 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KNSTRN CL E G H | 90417 | 30767 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KPTN CL E G H | 11133 | 6404 | OMIM:615637 | Mental retardation, autosomal recessive 41 | | | | 13 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:609942 | Noonan syndrome 3 | | | | 196 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | KREMEN1 CL E G H | 83999 | 17550 | OMIM:617392 | Ectodermal dysplasia 13, Hair/tooth type | HP:0040283 - Occasional | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LAGE3 CL E G H | 8270 | 26058 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040281 - Very frequent | | | 68 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | HP:0040281 - Very frequent | | | 88 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:2378 | Laurin-Sandrow syndrome | HP:0040283 - Occasional | | | 106 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 645 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:619179 | MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26 | | | | 44 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LOX CL E G H | 4015 | 6664 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | HP:0040281 - Very frequent | | | 289 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LRP4 CL E G H | 4038 | 6696 | OMIM:212780 | Cenani-Lenz syndactyly syndrome | . | | | 124 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040282 - Frequent | | | 124 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LRP4 CL E G H | 4038 | 6696 | OMIM:614305 | Sclerosteosis 2 | . | | | 124 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:178377 | Osteosclerosis-developmental delay-craniosynostosis syndrome | HP:0040281 - Very frequent | | | 125 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LRPPRC CL E G H | 10128 | 15714 | OMIM:220111 | Leigh syndrome, french Canadian type | . | | | 191 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LRRC8A CL E G H | 56262 | 19027 | OMIM:613506 | Agammaglobulinemia 5, autosomal dominant | . | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LTBP4 CL E G H | 8425 | 6717 | OMIM:613177 | Cutis laxa, autosomal recessive, type IC | . | | | 92 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MACF1 CL E G H | 23499 | 13664 | OMIM:618325 | Lissencephaly 9 with complex brainstem malformation | | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MAF CL E G H | 4094 | 6776 | OMIM:601088 | Ayme-Gripp syndrome | | | | 21 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | HP:0040282 - Frequent | | | 93 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MAN1B1 CL E G H | 11253 | 6823 | OMIM:614202 | Rafiq syndrome | | | | 93 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040282 - Frequent | | | 136 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MAN2C1 CL E G H | 4123 | 6827 | OMIM:619775 | CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2 | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:638 | Neurofibromatosis-Noonan syndrome | HP:0040281 - Very frequent | | | 178 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:157800 | Cardiospondylocarpofacial syndrome | . | | | 11 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040281 - Very frequent | | | 11 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | . | | | 11 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | . | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | HP:0040283 - Occasional | | | 4 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MARS2 CL E G H | 92935 | 25133 | OMIM:616430 | Combined oxidative phosphorylation deficiency 25 | HP:0040283 - Occasional | | | 25 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MASP1 CL E G H | 5648 | 6901 | ORPHA:293843 | 3MC syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | . | | | 21 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MAT2A CL E G H | 4144 | 6904 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 13 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040282 - Frequent | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | HP:0040282 - Frequent | | | 228 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | | | | 228 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | . | | | 228 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MED13 CL E G H | 9969 | 22474 | OMIM:618009 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61 | | | | 4 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | HP:0040283 - Occasional | | | 74 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | | | | 74 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MED25 CL E G H | 81857 | 28845 | OMIM:616449 | Basel-Vanagaite-Smirin-Yosef syndrome | . | | | 43 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MEF2C CL E G H | 4208 | 6996 | OMIM:613443 | Mental retardation, autosomal dominant 20 | . | | | 132 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | . | | | 13 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MFAP5 CL E G H | 8076 | 29673 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 11 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | HP:0040283 - Occasional | | | 39 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | . | | | 57 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:617121 | JOUBERT SYNDROME 28; JBTS28 | | | | 127 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | . | | | 64 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MN1 CL E G H | 4330 | 7180 | OMIM:618774 | CEBALID SYNDROME; CEBALID | | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | . | | | 96 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MOCS2 CL E G H | 4338 | 7193 | OMIM:252160 | Molybdenum cofactor deficiency, complementation group B | . | | | 26 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MRAS CL E G H | 22808 | 7227 | OMIM:618499 | NOONAN SYNDROME 11; NS11 | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MRPS14 CL E G H | 63931 | 14049 | OMIM:618378 | Combined oxidative phosphorylation deficiency 38 | . | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MTOR CL E G H | 2475 | 3942 | ORPHA:457485 | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | . | | | 68 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MUSK CL E G H | 4593 | 7525 | OMIM:208150 | Fetal akinesia deformation sequence | . | | | 72 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040282 - Frequent | | | 72 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 418 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MYLK CL E G H | 4638 | 7590 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 326 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040282 - Frequent | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NARS1 CL E G H | 4677 | 7643 | OMIM:619092 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NBAS CL E G H | 51594 | 15625 | OMIM:614800 | Short stature, optic nerve atrophy, and pelger-huet anomaly | HP:0040283 - Occasional | | | 25 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NCDN CL E G H | 23154 | 17597 | OMIM:619373 | NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040281 - Very frequent | | | 96 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | . | | | 745 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040284 - Very rare | | | 1952 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040281 - Very frequent | | | 1952 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | . | | | 1952 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:638 | Neurofibromatosis-Noonan syndrome | HP:0040281 - Very frequent | | | 1952 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:193520 | Watson syndrome | | | | 1952 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | . | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:561 | Marshall-Smith syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:217095 | Conotruncal heart malformations | HP:0040283 - Occasional | | | 90 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NKX2-6 CL E G H | 137814 | 32940 | OMIM:217095 | Conotruncal heart malformations | HP:0040283 - Occasional | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | . | | | 10 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040281 - Very frequent | | | 138 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:130720 | Lateral meningocele syndrome | . | | | 144 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2789 | Lateral meningocele syndrome | HP:0040283 - Occasional | | | 144 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:137550 | Melanocytic nevus syndrome, congenital | . | | | 102 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 102 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | | | | 102 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 544 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 118 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NSRP1 CL E G H | 84081 | 25305 | OMIM:620001 | | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | HP:0040281 - Very frequent | | | 84 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | HP:0040283 - Occasional | | | 84 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NUP133 CL E G H | 55746 | 18016 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040282 - Frequent | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | NXN CL E G H | 64359 | 18008 | OMIM:618529 | Robinow syndrome, autosomal recessive 2 | . | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | . | | | 201 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040281 - Very frequent | | | 201 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 201 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | . | | | 201 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | OGT CL E G H | 8473 | 8127 | OMIM:300997 | Mental retardation, X-linked 106 | | | | 4 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | OSGEP CL E G H | 55644 | 18028 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | OSGEP CL E G H | 55644 | 18028 | OMIM:617729 | Galloway-Mowat syndrome 3 | . | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | HP:0040282 - Frequent | | | 24 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | | | | 24 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PACS2 CL E G H | 23241 | 23794 | OMIM:618067 | Epileptic encephalopathy, early infantile, 66 | . | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:217385 | 17p13.3 microduplication syndrome | HP:0040281 - Very frequent | | | 231 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PAICS CL E G H | 10606 | 8587 | OMIM:619859 | | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1349 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PALB2 CL E G H | 79728 | 26144 | OMIM:610832 | Fanconi anemia, complementation group N | . | | | 1349 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PARS2 CL E G H | 25973 | 30563 | OMIM:618437 | Epileptic encephalopathy, early infantile, 75 | | | | 14 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:1529 | Craniofacial-deafness-hand syndrome | HP:0040281 - Very frequent | | | 59 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:122880 | Craniofacial-Deafness-Hand syndrome | . | | | 59 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | . | | | 59 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:950 | Acrodysostosis | HP:0040282 - Frequent | | | 113 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | HP:0040283 - Occasional | | | 113 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PDHX CL E G H | 8050 | 21350 | OMIM:245349 | Pyruvate dehydrogenase e3-binding protein deficiency | . | | | 98 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PDZD8 CL E G H | 118987 | 26974 | OMIM:620021 | | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | HP:0040282 - Frequent | | | 66 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PEX3 CL E G H | 8504 | 8858 | OMIM:614882 | Peroxisome biogenesis disorder 10A (Zellweger) | . | | | 47 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | . | | | 99 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614862 | Peroxisome biogenesis disorder 4A (Zellweger) | . | | | 98 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614863 | Peroxisome biogenesis disorder 4B | . | | | 98 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PGAP3 CL E G H | 93210 | 23719 | OMIM:615716 | Hyperphosphatasia with mental retardation syndrome 4 | . | | | 20 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PHACTR1 CL E G H | 221692 | 20990 | OMIM:618298 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70 | | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | . | | | 37 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PHIP CL E G H | 55023 | 15673 | OMIM:617991 | Developmental delay, intellectual disability, obesity, and dysmorphic features | . | | | 11 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PHIP CL E G H | 55023 | 15673 | ORPHA:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | | 11 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | . | | | 77 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | . | | | 46 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:488635 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIGN CL E G H | 23556 | 8967 | OMIM:614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | . | | | 37 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIGO CL E G H | 84720 | 23215 | OMIM:614749 | Hyperphosphatasia with mental retardation syndrome 2 | | | | 84 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 84 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIGV CL E G H | 55650 | 26031 | OMIM:239300 | Hyperphosphatasia with mental retardation | | | | 57 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:602501 | Megalencephaly-Capillary malformation-polymicrogyria syndrome | . | | | 162 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 9 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 43 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PIK3R2 CL E G H | 5296 | 8980 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PITX1 CL E G H | 5307 | 9004 | OMIM:119800 | CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF | | | | 8 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PITX2 CL E G H | 5308 | 9005 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040283 - Occasional | | | 51 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PLCB3 CL E G H | 5331 | 9056 | OMIM:618961 | SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280229 | Pelizaeus-Merzbacher disease in female carriers | HP:0040283 - Occasional | | | 60 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040282 - Frequent | | | 150 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | HP:0040283 - Occasional | | | 10 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040282 - Frequent | | | 35 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | POLR1A CL E G H | 25885 | 17264 | ORPHA:1200 | Burn-McKeown syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | POLR2A CL E G H | 5430 | 9187 | OMIM:618603 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040281 - Very frequent | | | 138 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | . | | | 138 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | . | | | 76 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PPP1CB CL E G H | 5500 | 9282 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040283 - Occasional | | | 9 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PPP2CA CL E G H | 5515 | 9299 | OMIM:618354 | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | . | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PPP2R1A CL E G H | 5518 | 9302 | OMIM:616362 | Mental retardation, autosomal dominant 36 | . | | | 13 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PPP2R1A CL E G H | 5518 | 9302 | ORPHA:457284 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PPP2R5D CL E G H | 5528 | 9312 | OMIM:616355 | Mental retardation, autosomal dominant 35 | . | | | 10 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PPP3CA CL E G H | 5530 | 9314 | OMIM:617711 | Epileptic encephalopathy, infantile or early childhood, 1 | . | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PRDM13 CL E G H | 59336 | 13998 | OMIM:619909 | | | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:950 | Acrodysostosis | HP:0040282 - Frequent | | | 134 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | . | | | 134 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PRKG1 CL E G H | 5592 | 9414 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 41 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 9 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 34 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PSAT1 CL E G H | 29968 | 19129 | OMIM:616038 | Neu-Laxova syndrome 2 | . | | | 27 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 27 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PSMD12 CL E G H | 5718 | 9557 | OMIM:617516 | Stankiewicz-Isidor syndrome | | | | 4 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 665 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PTCH2 CL E G H | 8643 | 9586 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PTDSS1 CL E G H | 9791 | 9587 | OMIM:151050 | Lenz-Majewski hyperostotic dwarfism | . | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040282 - Frequent | | | 948 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040282 - Frequent | | | 948 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:156400 | Metaphyseal chondrodysplasia, Jansen type | . | | | 58 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | . | | | 291 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 291 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040281 - Very frequent | | | 291 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | HP:0040283 - Occasional | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PTRH2 CL E G H | 51651 | 24265 | OMIM:616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | . | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PYCR1 CL E G H | 5831 | 9721 | OMIM:612940 | Cutis laxa, autosomal recessive, type IIB | . | | | 53 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PYCR1 CL E G H | 5831 | 9721 | OMIM:614438 | Cutis laxa, autosomal recessive, type IIIB | . | | | 53 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RAC3 CL E G H | 5881 | 9803 | OMIM:618577 | NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF | | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | | | | 25 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 9 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 391 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611554 | LEOPARD SYNDROME 2; LPRD2 | | | | 212 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 212 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611553 | Noonan syndrome 5 | | | | 212 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040281 - Very frequent | | | 212 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:1713 | 17p11.2 microduplication syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040282 - Frequent | | | 73 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:618388 | FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2 | | | | 73 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RB1 CL E G H | 5925 | 9884 | ORPHA:1587 | Monosomy 13q14 | HP:0040281 - Very frequent | | | 365 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RBL2 CL E G H | 5934 | 9894 | OMIM:619690 | BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | . | | | 16 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | . | | | 445 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:1225 | Baller-Gerold syndrome | HP:0040283 - Occasional | | | 445 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RELN CL E G H | 5649 | 9957 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040281 - Very frequent | | | 334 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RET CL E G H | 5979 | 9967 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | 572 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1401 | CHAND syndrome | HP:0040282 - Frequent | | | 69 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RIT1 CL E G H | 6016 | 10023 | OMIM:615355 | NOONAN SYNDROME 8; NS8 | | | | 39 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | . | | | 7 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:607095 | Anauxetic dysplasia | . | | | 37 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040281 - Very frequent | | | 120 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | . | | | 120 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 109 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 167 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 11 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPL35A CL E G H | 6165 | 10345 | OMIM:612528 | Diamond-Blackfan anemia 5 | | | | 11 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 40 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPL5 CL E G H | 6125 | 10360 | OMIM:612561 | Diamond-Blackfan anemia 6 | . | | | 40 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 26 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 5 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 42 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | . | | | 65 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:276630 | Symptomatic form of Coffin-Lowry syndrome in female carriers | HP:0040283 - Occasional | | | 65 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RPS7 CL E G H | 6201 | 10440 | OMIM:612563 | Diamond-Blackfan anemia 8 | . | | | 20 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618021 | Tetraamelia syndrome 2 | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | . | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RSRC1 CL E G H | 51319 | 24152 | OMIM:618402 | Intellectual developmental disorder, autosomal recessive 70 | . | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040281 - Very frequent | | | 90 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | . | | | 90 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RUSC2 CL E G H | 9853 | 23625 | OMIM:617773 | Mental retardation, autosomal recessive 61 | . | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:324581 | Benign Samaritan congenital myopathy | HP:0040281 - Very frequent | | | 1200 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | . | | | 86 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:619317 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B | | | | 1053 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SCYL2 CL E G H | 55681 | 19286 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SEC23A CL E G H | 10484 | 10701 | OMIM:607812 | Craniolenticulosutural dysplasia | . | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SEC23A CL E G H | 10484 | 10701 | ORPHA:50814 | Craniolenticulosutural dysplasia | HP:0040281 - Very frequent | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SEC24D CL E G H | 9871 | 10706 | OMIM:616294 | Cole-Carpenter syndrome 2 | . | | | 5 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SEMA5A CL E G H | 9037 | 10736 | ORPHA:281 | Monosomy 5p | HP:0040282 - Frequent | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SET CL E G H | 6418 | 10760 | OMIM:618106 | Mental retardation, autosomal dominant 58 | . | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | . | | | 143 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040282 - Frequent | | | 143 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SETD1A CL E G H | 9739 | 29010 | OMIM:619056 | NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID | | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261197 | Proximal 16p11.2 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | HP:0040281 - Very frequent | | | 134 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SHOC2 CL E G H | 8036 | 15454 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040283 - Occasional | | | 74 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SIAH1 CL E G H | 6477 | 10857 | OMIM:619314 | BURATTI-HAREL SYNDROME; BURHAS | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SIK3 CL E G H | 23387 | 29165 | OMIM:618162 | Spondyloepimetaphyseal dysplasia, Krakow type | . | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SIX2 CL E G H | 10736 | 10888 | ORPHA:488437 | SIX2-related frontonasal dysplasia | HP:0040282 - Frequent | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040282 - Frequent | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | . | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040282 - Frequent | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | . | | | 163 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040282 - Frequent | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | . | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2095 | Gorlin-Chaudhry-Moss syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040283 - Occasional | | | 166 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:628 | Diastrophic dysplasia | HP:0040282 - Frequent | | | 166 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:1782 | Dysosteosclerosis | HP:0040281 - Very frequent | | | 68 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SLC2A10 CL E G H | 81031 | 13444 | OMIM:208050 | Arterial tortuosity syndrome | . | | | 178 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040283 - Occasional | | | 71 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | | | | 24 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SLC45A1 CL E G H | 50651 | 17939 | OMIM:617532 | Intellectual developmental disorder with neuropsychiatric features | . | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 274 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SMAD2 CL E G H | 4087 | 6768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 7 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:284984 | Aneurysm-osteoarthritis syndrome | HP:0040282 - Frequent | | | 260 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 260 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 504 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | . | | | 504 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SMARCD1 CL E G H | 6602 | 11106 | OMIM:618779 | COFFIN-SIRIS SYNDROME 11; CSS11 | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:603457 | Bosma arhinia microphthalmia syndrome | . | | | 174 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:1553 | Curry-Jones syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | . | | | 19 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | HP:0040283 - Occasional | | | 19 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SNAP29 CL E G H | 9342 | 11133 | ORPHA:66631 | CEDNIK syndrome | HP:0040281 - Very frequent | | | 94 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SNAP29 CL E G H | 9342 | 11133 | OMIM:609528 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | | | | 94 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 315 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 30 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SOS2 CL E G H | 6655 | 11188 | OMIM:616559 | NOONAN SYNDROME 9; NS9 | | | | 30 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SOST CL E G H | 50964 | 13771 | OMIM:122860 | Craniodiaphyseal dysplasia, autosomal dominant | . | | | 26 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SOST CL E G H | 50964 | 13771 | OMIM:269500 | Sclerosteosis 1 | . | | | 26 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | HP:0040282 - Frequent | | | 109 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SPART CL E G H | 23111 | 18514 | ORPHA:101000 | Autosomal recessive spastic paraplegia type 20 | HP:0040282 - Frequent | | | 66 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SPART CL E G H | 23111 | 18514 | OMIM:275900 | Spastic paraplegia 20, autosomal recessive | . | | | 66 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SPECC1L CL E G H | 23384 | 29022 | OMIM:145420 | Hypertelorism, Teebi type | . | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SPINT2 CL E G H | 10653 | 11247 | OMIM:270420 | Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies | . | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SPRED1 CL E G H | 161742 | 20249 | OMIM:611431 | Legius syndrome | . | | | 136 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 5 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612379 | Congenital disorder of glycosylation, type IQ | . | | | 80 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | STAMBP CL E G H | 10617 | 16950 | OMIM:614261 | Microcephaly-Capillary malformation syndrome | . | | | 24 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | . | | | 110 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | STRADA CL E G H | 92335 | 30172 | OMIM:611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:617757 | Joubert syndrome 32 | . | | | 124 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SUZ12 CL E G H | 23512 | 17101 | OMIM:618786 | IMAGAWA-MATSUMOTO SYNDROME; IMMAS | | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | SUZ12 CL E G H | 23512 | 17101 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 34 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 271 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:93324 | Autosomal recessive Kenny-Caffey syndrome | HP:0040282 - Frequent | | | 52 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:244460 | Kenny-caffey syndrome, type 1 | . | | | 52 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | . | | | 22 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:1727 | 22q11.2 duplication syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:217095 | Conotruncal heart malformations | HP:0040283 - Occasional | | | 32 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | . | | | 32 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TBX15 CL E G H | 6913 | 11594 | ORPHA:93333 | Pelviscapular dysplasia | HP:0040282 - Frequent | | | 5 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | . | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TCF12 CL E G H | 6938 | 11623 | ORPHA:35099 | Isolated brachycephaly | HP:0040283 - Occasional | | | 28 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:1782 | Dysosteosclerosis | HP:0040281 - Very frequent | | | 82 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 76 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 31 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TCTN3 CL E G H | 26123 | 24519 | OMIM:258860 | Orofaciodigital syndrome IV | . | | | 31 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040281 - Very frequent | | | 31 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 31 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | HP:0040283 - Occasional | | | 12 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TENM3 CL E G H | 55714 | 29944 | OMIM:615145 | Microphthalmia, isolated, with coloboma 9 | . | | | 12 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | HP:0040281 - Very frequent | | | 104 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TFAP2B CL E G H | 7021 | 11743 | OMIM:169100 | Char syndrome | . | | | 104 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TGDS CL E G H | 23483 | 20324 | ORPHA:1388 | Catel-Manzke syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TGFB2 CL E G H | 7042 | 11768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 162 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TGFB3 CL E G H | 7043 | 11769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 85 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 239 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:60030 | Loeys-Dietz syndrome | HP:0040282 - Frequent | | | 239 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TGFBR1 CL E G H | 7046 | 11772 | OMIM:609192 | Loeys-Dietz syndrome 1 | | | | 239 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 253 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:60030 | Loeys-Dietz syndrome | HP:0040282 - Frequent | | | 253 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:610168 | Loeys-Dietz syndrome 2 | | | | 253 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | THRA CL E G H | 7067 | 11796 | OMIM:614450 | Hypothyroidism, congenital, nongoitrous, 6 | . | | | 9 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | THSD4 CL E G H | 79875 | 25835 | OMIM:619825 | AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12 | | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | THUMPD1 CL E G H | 55623 | 23807 | OMIM:619989 | | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TLK2 CL E G H | 11011 | 11842 | OMIM:618050 | Mental retardation, autosomal dominant 57 | | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TMCO1 CL E G H | 54499 | 18188 | ORPHA:1394 | Cerebrofaciothoracic dysplasia | HP:0040281 - Very frequent | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | . | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TMEM138 CL E G H | 51524 | 26944 | OMIM:614465 | JOUBERT SYNDROME 16; JBTS16 | | | | 39 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 45 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | HP:0040282 - Frequent | | | 33 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TMEM237 CL E G H | 65062 | 14432 | OMIM:614424 | Joubert syndrome 14 | . | | | 82 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 82 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | . | | | 166 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | . | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TNFRSF11A CL E G H | 8792 | 11908 | ORPHA:1782 | Dysosteosclerosis | HP:0040281 - Very frequent | | | 72 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | . | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 61 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TP53RK CL E G H | 112858 | 16197 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TP53RK CL E G H | 112858 | 16197 | OMIM:617730 | Galloway-Mowat syndrome 4 | . | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TPRKB CL E G H | 51002 | 24259 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TPRKB CL E G H | 51002 | 24259 | OMIM:617731 | Galloway-Mowat syndrome 5 | . | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 158 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TRAPPC9 CL E G H | 83696 | 30832 | OMIM:613192 | Mental retardation, autosomal recessive 13 | HP:0040283 - Occasional | | | 158 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | . | | | 78 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:618825 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63 | | | | 8 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TRIP12 CL E G H | 9320 | 12306 | OMIM:617752 | Mental retardation, autosomal dominant 49 | . | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TRIP4 CL E G H | 9325 | 12310 | OMIM:616866 | Spinal muscular atrophy with congenital bone fractures 1 | | | | 4 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | HP:0040284 - Very rare | | | 26 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040282 - Frequent | | | 106 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | . | | | 14 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:35099 | Isolated brachycephaly | HP:0040283 - Occasional | | | 18 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:180750 | Robinow-Sorauf syndrome | . | | | 18 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 18 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:617746 | Sweeney-Cox syndrome | . | | | 18 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | . | | | 7 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | . | | | 7 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1231 | Barber-Say syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TXNL4A CL E G H | 10907 | 30551 | ORPHA:1200 | Burn-McKeown syndrome | HP:0040281 - Very frequent | | | 19 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | TXNL4A CL E G H | 10907 | 30551 | OMIM:608572 | Burn-Mckeown syndrome | . | | | 19 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040282 - Frequent | | | 7 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | | | | 13 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | UBR7 CL E G H | 55148 | 20344 | OMIM:619189 | LI-CAMPEAU SYNDROME; LICAS | | | | 1 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | UMPS CL E G H | 7372 | 12563 | ORPHA:30 | Hereditary orotic aciduria | HP:0040282 - Frequent | | | 135 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | HP:0040283 - Occasional | | | 8 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | VSX1 CL E G H | 30813 | 12723 | OMIM:614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | . | | | 47 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | . | | | 20 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | 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:0000316 | HP:0000316 | Hypertelorism | 0 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040283 - Occasional | | | 2 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | . | | | 83 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | WDPCP CL E G H | 51057 | 28027 | OMIM:217085 | Congenital heart defects, hamartomas of tongue, and polysyndactyly | HP:0040283 - Occasional | | | 60 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 10 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | WDR37 CL E G H | 22884 | 31406 | OMIM:618652 | NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | WDR4 CL E G H | 10785 | 12756 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | WDR73 CL E G H | 84942 | 25928 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | . | | | 14 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 98 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | WNT9B CL E G H | 7484 | 12779 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 125 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | XYLT2 CL E G H | 64132 | 15517 | ORPHA:85194 | Spondylo-ocular syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | YWHAE CL E G H | 7531 | 12851 | ORPHA:217385 | 17p13.3 microduplication syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ZBTB18 CL E G H | 10472 | 13030 | ORPHA:36367 | Distal monosomy 1q | HP:0040281 - Very frequent | | | 16 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ZBTB18 CL E G H | 10472 | 13030 | OMIM:612337 | Mental retardation, autosomal dominant 22 | . | | | 16 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ZBTB24 CL E G H | 9841 | 21143 | ORPHA:2268 | ICF syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ZBTB24 CL E G H | 9841 | 21143 | OMIM:614069 | Immunodeficiency-Centromeric instability-facial anomalies syndrome2 | . | | | 9 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | . | | | 362 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040283 - Occasional | | | 362 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ZIC1 CL E G H | 7545 | 12872 | OMIM:616602 | Craniosynostosis 6 | . | | | 5 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ZIC1 CL E G H | 7545 | 12872 | ORPHA:35099 | Isolated brachycephaly | HP:0040283 - Occasional | | | 5 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ZIC2 CL E G H | 7546 | 12873 | OMIM:609637 | Holoprosencephaly 5 | | | | 34 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | . | | | 39 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 83 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | . | | | 83 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ZMYND11 CL E G H | 10771 | 16966 | OMIM:616083 | Mental retardation, autosomal dominant 30 | . | | | 24 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ZNF292 CL E G H | 23036 | 18410 | OMIM:619188 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64 | | | | 3 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ZNF526 CL E G H | 116115 | 29415 | OMIM:619877 | | | | | 24 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:603671 | Acromelic frontonasal dysostosis | . | | | 5 | | |
HP:0000316 | HP:0000316 | Hypertelorism | 0 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | HP:0040281 - Very frequent | | | 5 | | |