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:0000268 | HP:0000268 | Dolichocephaly | 0 | ADH5 CL E G H | 128 | 253 | OMIM:619151 | AMED SYNDROME, DIGENIC; AMEDS | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | AGO2 CL E G H | 27161 | 3263 | OMIM:619149 | LESSEL-KREIENKAMP SYNDROME; LESKRES | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040282 - Frequent | | | 54 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | AKT1 CL E G H | 207 | 391 | OMIM:176920 | Proteus syndrome, somatic | . | | | 54 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | ALPL CL E G H | 249 | 438 | OMIM:241510 | Hypophosphatasia, childhood | . | | | 126 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | ALX4 CL E G H | 60529 | 450 | ORPHA:35093 | Isolated scaphocephaly | HP:0040281 - Very frequent | | | 132 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | APC2 CL E G H | 10297 | 24036 | OMIM:617169 | Sotos syndrome 3 | | | | 1 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | | | | 3 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | . | | | 120 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | | | | 140 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79499 | Autosomal dominant deafness-onychodystrophy syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | . | | | 314 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | . | | | 276 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 5769 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 7642 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1086 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | C12ORF57 CL E G H | 113246 | 29521 | ORPHA:1777 | Temtamy syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | CCDC8 CL E G H | 83987 | 25367 | ORPHA:2616 | 3M syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | CCDC8 CL E G H | 83987 | 25367 | OMIM:614205 | THREE M SYNDROME 3; 3M3 | | | | 5 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 5 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | CNOT3 CL E G H | 4849 | 7879 | OMIM:618672 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | CNTN1 CL E G H | 1272 | 2171 | OMIM:612540 | Myopathy, congenital, compton-north | . | | | 40 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:618186 | Neuropathy, congenital hypomyelinating, 3 | . | | | 9 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | 3 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | COL5A1 CL E G H | 1289 | 2209 | OMIM:619329 | FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF | | | | 660 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | . | | | 127 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | CUL7 CL E G H | 9820 | 21024 | ORPHA:2616 | 3M syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | HP:0040283 - Occasional | | | 164 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | DLX3 CL E G H | 1747 | 2916 | ORPHA:3352 | Tricho-dento-osseous syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | DLX3 CL E G H | 1747 | 2916 | OMIM:190320 | Trichodentoosseous syndrome | . | | | 48 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | DMXL2 CL E G H | 23312 | 2938 | OMIM:618663 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81 | | | | 3 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | | | | 3 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | DPH1 CL E G H | 1801 | 3003 | OMIM:616901 | Developmental delay with short stature, dysmorphic features, and sparse hair | | | | 3 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | DYM CL E G H | 54808 | 21317 | OMIM:607326 | Smith-Mccort dysplasia 1 | . | | | 65 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 158 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | ERF CL E G H | 2077 | 3444 | ORPHA:35093 | Isolated scaphocephaly | HP:0040281 - Very frequent | | | 12 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | ERGIC1 CL E G H | 57222 | 29205 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | EXOC6B CL E G H | 23233 | 17085 | OMIM:618395 | Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | . | | | 3 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 340 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 410 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 147 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 87 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 157 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 53 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 107 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | | | | 1361 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | HP:0040281 - Very frequent | | | 1361 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040281 - Very frequent | | | 1361 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FBN2 CL E G H | 2201 | 3604 | OMIM:121050 | Contractural arachnodactyly, congenital | . | | | 655 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FGF9 CL E G H | 2254 | 3687 | OMIM:612961 | Multiple synostoses syndrome 3 | HP:0040284 - Very rare | | | 75 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:168624 | Familial scaphocephaly syndrome, McGillivray type | HP:0040282 - Frequent | | | 175 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:609579 | Familial scaphocephaly syndrome, Mcgillivray type | . | | | 175 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:272 | Congenital muscular dystrophy, Fukuyama type | HP:0040283 - Occasional | | | 184 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | FLT4 CL E G H | 2324 | 3767 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 90 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 87 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | GATA5 CL E G H | 140628 | 15802 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 10 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 37 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | GDF1 CL E G H | 2657 | 4214 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 28 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | GJA5 CL E G H | 2702 | 4279 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 39 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | . | | | 270 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | H3-3B CL E G H | 3021 | 4765 | OMIM:619721 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2 | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | . | | | 38 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | . | | | 86 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | HNRNPK CL E G H | 3190 | 5044 | OMIM:616580 | Au-Kline syndrome | . | | | 8 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | . | | | 98 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040282 - Frequent | | | 115 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 93 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 11 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:614099 | Cranioectodermal dysplasia 3 | HP:0040283 - Occasional | | | 11 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:617866 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18 | | | | 11 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 4 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | . | | | 4 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | IFT81 CL E G H | 28981 | 14313 | OMIM:617895 | Short-Rib thoracic dysplasia 19 with or without polydactyly | | | | 2 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | IL11RA CL E G H | 3590 | 5967 | OMIM:614188 | Craniosynostosis and dental anomalies | HP:0040283 - Occasional | | | 8 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:618523 | HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040282 - Frequent | | | 18 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | INTS1 CL E G H | 26173 | 24555 | OMIM:618571 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | HP:0040283 - Occasional | | | 3 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | JAG1 CL E G H | 182 | 6188 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 257 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | KATNB1 CL E G H | 10300 | 6217 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 10 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | | | | 13 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | | | | 193 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | | | | 128 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | HP:0040282 - Frequent | | | 4 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | . | | | 2 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | HP:0040284 - Very rare | | | 9 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | KDR CL E G H | 3791 | 6307 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 40 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | HP:0040283 - Occasional | | | 91 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | KMT2E CL E G H | 55904 | 18541 | OMIM:618512 | O'donnell-Luria-Rodan syndrome | . | | | 1 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | | | | 13 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | KPTN CL E G H | 11133 | 6404 | OMIM:615637 | Mental retardation, autosomal recessive 41 | . | | | 13 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:609942 | Noonan syndrome 3 | | | | 196 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | . | | | 63 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | MAN1B1 CL E G H | 11253 | 6823 | OMIM:614202 | Rafiq syndrome | | | | 93 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | HP:0040283 - Occasional | | | 39 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | . | | | 5 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | MN1 CL E G H | 4330 | 7180 | OMIM:618774 | CEBALID SYNDROME; CEBALID | | | | 1 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | MSL3 CL E G H | 10943 | 7370 | OMIM:301032 | BASILICATA-AKHTAR SYNDROME; MRXSBA | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | MTM1 CL E G H | 4534 | 7448 | OMIM:310400 | Myopathy, centronuclear, X-linked | | | | 185 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | MTM1 CL E G H | 4534 | 7448 | ORPHA:596 | X-linked centronuclear myopathy | | | | 185 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | MVK CL E G H | 4598 | 7530 | ORPHA:29 | Mevalonic aciduria | HP:0040281 - Very frequent | | | 150 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 96 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:420179 | Malan overgrowth syndrome | | | | 40 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 90 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 3 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:130720 | Lateral meningocele syndrome | . | | | 144 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2789 | Lateral meningocele syndrome | HP:0040281 - Very frequent | | | 144 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | . | | | 1 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | NPR2 CL E G H | 4882 | 7944 | ORPHA:40 | Acromesomelic dysplasia, Maroteaux type | HP:0040282 - Frequent | | | 53 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 544 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 118 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | OBSL1 CL E G H | 23363 | 29092 | OMIM:612921 | 3-M syndrome 2 | | | | 143 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | OBSL1 CL E G H | 23363 | 29092 | ORPHA:2616 | 3M syndrome | HP:0040282 - Frequent | | | 143 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | | | | 201 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | . | | | 201 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | OGDHL CL E G H | 55753 | 25590 | OMIM:619701 | YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN | | | | 3 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | ORC4 CL E G H | 5000 | 8490 | OMIM:613800 | Meier-Gorlin syndrome 2 | . | | | 21 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1349 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PCDHGC4 CL E G H | 56098 | 8717 | OMIM:619880 | | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 169 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 75 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 4 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 65 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 66 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 46 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PEX14 CL E G H | 5195 | 8856 | OMIM:614887 | Peroxisome biogenesis disorder 13A (Zellweger) | . | | | 46 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 59 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 62 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | | | | 62 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 82 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 106 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 47 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 99 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | . | | | 99 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:202370 | Peroxisome biogenesis disorder 2B | . | | | 99 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 98 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:616531 | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | . | | | 11 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | HP:0040284 - Very rare | | | 10 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PREPL CL E G H | 9581 | 30228 | ORPHA:163690 | Hypotonia-cystinuria syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 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:0000268 | HP:0000268 | Dolichocephaly | 0 | PSMC1 CL E G H | 5700 | 9547 | OMIM:620071 | | | | | 1 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:109 | Bannayan-Riley-Ruvalcaba syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040282 - Frequent | | | 948 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:2969 | Proteus-like syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | RAB39B CL E G H | 116442 | 16499 | OMIM:300271 | Mental retardation, X-linked 72 | . | | | 34 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 9 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 391 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611554 | LEOPARD SYNDROME 2; LPRD2 | | | | 212 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611553 | Noonan syndrome 5 | | | | 212 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | RELN CL E G H | 5649 | 9957 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 334 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040282 - Frequent | | | 15 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | RUSC2 CL E G H | 9853 | 23625 | OMIM:617773 | Mental retardation, autosomal recessive 61 | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:324581 | Benign Samaritan congenital myopathy | HP:0040283 - Occasional | | | 1200 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | | | | 40 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | SCYL2 CL E G H | 55681 | 19286 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | HP:0040282 - Frequent | | | 53 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | SLC35D1 CL E G H | 23169 | 20800 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040282 - Frequent | | | 9 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163690 | Hypotonia-cystinuria syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | SLC6A9 CL E G H | 6536 | 11056 | OMIM:617301 | Glycine encephalopathy with normal serum glycine | | | | 4 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 274 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | SNAP29 CL E G H | 9342 | 11133 | ORPHA:66631 | CEDNIK syndrome | HP:0040283 - Occasional | | | 94 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | TAB2 CL E G H | 23118 | 17075 | ORPHA:228410 | Polyvalvular heart disease syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | TBC1D7 CL E G H | 51256 | 21066 | OMIM:248000 | Macrocephaly/megalencephaly syndrome, autosomal recessive | . | | | 4 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 32 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | THUMPD1 CL E G H | 55623 | 23807 | OMIM:619989 | | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | TRAIP CL E G H | 10293 | 30764 | OMIM:616777 | Seckel syndrome 9 | | | | 2 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | . | | | 78 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | TRIP12 CL E G H | 9320 | 12306 | OMIM:617752 | Mental retardation, autosomal dominant 49 | | | | 2 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:123100 | Craniosynostosis 1 | . | | | 18 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:35093 | Isolated scaphocephaly | HP:0040281 - Very frequent | | | 18 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 2 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | VDR CL E G H | 7421 | 12679 | ORPHA:93160 | Hypocalcemic vitamin D-resistant rickets | HP:0040282 - Frequent | | | 104 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 95 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 136 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:614091 | Short-Rib thoracic dysplasia 7 with or without polydactyly | . | | | 136 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 125 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | YY1 CL E G H | 7528 | 12856 | OMIM:617557 | Gabriele-De vries syndrome | | | | 7 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 31 | | |
HP:0000268 | HP:0000268 | Dolichocephaly | 0 | ZNF142 CL E G H | 7701 | 12927 | OMIM:618425 | Neurodevelopmental disorder with impaired speech and hyperkinetic movements | . | | | | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | AGO2 CL E G H | 27161 | 3263 | OMIM:619149 | LESSEL-KREIENKAMP SYNDROME; LESKRES | | | | | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | . | | | 3 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | | | | 140 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | CNTN1 CL E G H | 1272 | 2171 | OMIM:612540 | Myopathy, congenital, compton-north | . | | | 40 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | 3 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | DPH1 CL E G H | 1801 | 3003 | OMIM:616901 | Developmental delay with short stature, dysmorphic features, and sparse hair | . | | | 3 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | ERGIC1 CL E G H | 57222 | 29205 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | FBN2 CL E G H | 2201 | 3604 | OMIM:121050 | Contractural arachnodactyly, congenital | | | | 655 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | . | | | 270 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040284 - Very rare | | | 270 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | . | | | 148 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | IFT43 CL E G H | 112752 | 29669 | OMIM:614099 | Cranioectodermal dysplasia 3 | HP:0040283 - Occasional | | | 11 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | IL11RA CL E G H | 3590 | 5967 | OMIM:614188 | Craniosynostosis and dental anomalies | HP:0040283 - Occasional | | | 8 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | IL6ST CL E G H | 3572 | 6021 | OMIM:618523 | HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B | | | | | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 193 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 128 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | KPTN CL E G H | 11133 | 6404 | OMIM:615637 | Mental retardation, autosomal recessive 41 | . | | | 13 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:609942 | Noonan syndrome 3 | . | | | 196 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | NFIX CL E G H | 4784 | 7788 | ORPHA:420179 | Malan overgrowth syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | . | | | 201 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | OGDHL CL E G H | 55753 | 25590 | OMIM:619701 | YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN | | | | 3 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | . | | | 62 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | SCYL2 CL E G H | 55681 | 19286 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | TBC1D7 CL E G H | 51256 | 21066 | OMIM:248000 | Macrocephaly/megalencephaly syndrome, autosomal recessive | . | | | 4 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | THUMPD1 CL E G H | 55623 | 23807 | OMIM:619989 | | | | | | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | TRAIP CL E G H | 10293 | 30764 | OMIM:616777 | Seckel syndrome 9 | | | | 2 | | |
HP:0000268 | HP:0030799 | Scaphocephaly | 1 | TWIST1 CL E G H | 7291 | 12428 | OMIM:123100 | Craniosynostosis 1 | . | | | 18 | | |