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:0000303 | HP:0000303 | Mandibular prognathia | 0 | ACAN CL E G H | 176 | 319 | OMIM:612813 | Spondyloepimetaphyseal dysplasia, Aggrecan type | | | | 34 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | ACAN CL E G H | 176 | 319 | ORPHA:171866 | Spondyloepimetaphyseal dysplasia, aggrecan type | HP:0040281 - Very frequent | | | 34 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | HP:0040282 - Frequent | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | ADAMTSL4 CL E G H | 54507 | 19706 | ORPHA:1885 | Isolated ectopia lentis | HP:0040282 - Frequent | | | 84 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | HP:0040281 - Very frequent | | | 76 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | AGPAT2 CL E G H | 10555 | 325 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 85 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | . | | | 85 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | AIMP2 CL E G H | 7965 | 20609 | OMIM:618006 | Leukodystrophy, hypomyelinating, 17 | . | | | 1 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 95 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | AIP CL E G H | 9049 | 358 | ORPHA:99725 | Pituitary gigantism | HP:0040281 - Very frequent | | | 95 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:619031 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF | | | | 12 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | ANKH CL E G H | 56172 | 15492 | OMIM:123000 | Craniometaphyseal dysplasia, autosomal dominant | . | | | 164 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | AP1S2 CL E G H | 8905 | 560 | OMIM:304340 | Pettigrew syndrome | . | | | 13 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | AP4M1 CL E G H | 9179 | 574 | OMIM:612936 | Spastic paraplegia 50, autosomal recessive | . | | | 41 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | HP:0040282 - Frequent | | | 3179 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | APC2 CL E G H | 10297 | 24036 | OMIM:617169 | Sotos syndrome 3 | . | | | 1 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:617183 | Harel-Yoon syndrome | . | | | 5 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | ATAD3A CL E G H | 55210 | 25567 | ORPHA:496790 | Ocular anomalies-axonal neuropathy-developmental delay syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | ATP10A CL E G H | 57194 | 13542 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040283 - Occasional | | | 4 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | ATP6V0A1 CL E G H | 535 | 865 | OMIM:619971 | | | | | 1 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | | | | 169 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 105 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | . | | | 105 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:618087 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | . | | | 32 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | CAV1 CL E G H | 857 | 1527 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 11 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | CAVIN1 CL E G H | 284119 | 9688 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 48 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | . | | | 2 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 139 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | CLCN4 CL E G H | 1183 | 2022 | OMIM:300114 | Raynaud-Claes syndrome | . | | | 45 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | CLIC2 CL E G H | 1193 | 2063 | ORPHA:324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | CNOT3 CL E G H | 4849 | 7879 | OMIM:618672 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF | | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 90 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | CSNK2B CL E G H | 1460 | 2460 | OMIM:618732 | POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS | | | | 2 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | . | | | 38 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | . | | | 127 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | DEAF1 CL E G H | 10522 | 14677 | OMIM:615828 | Mental retardation, autosomal dominant 24 | . | | | 33 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:404443 | Tatton-Brown-Rahman syndrome | HP:0040284 - Very rare | | | 44 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | DOCK3 CL E G H | 1795 | 2989 | OMIM:618292 | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | . | | | 3 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | . | | | 65 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040282 - Frequent | | | 20 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 158 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 199 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040282 - Frequent | | | 199 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 55 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040282 - Frequent | | | 55 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:1885 | Isolated ectopia lentis | HP:0040282 - Frequent | | | 1361 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:166250 | Osteoglophonic dysplasia | . | | | 172 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:101600 | Pfeiffer syndrome | . | | | 172 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:87 | Apert syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | . | | | 175 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123500 | Crouzon syndrome | . | | | 175 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:168624 | Familial scaphocephaly syndrome, McGillivray type | HP:0040283 - Occasional | | | 175 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1540 | Jackson-Weiss syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101600 | Pfeiffer syndrome | . | | | 175 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:610883 | Potocki-Lupski syndrome | | | | 332 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300624 | Fragile X mental retardation syndrome | . | | | 30 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:908 | Fragile X syndrome | HP:0040282 - Frequent | | | 30 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:449291 | Symptomatic form of fragile X syndrome in female carriers | HP:0040284 - Very rare | | | 30 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | FOS CL E G H | 2353 | 3796 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | HP:0040282 - Frequent | | | 177 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | HP:0040282 - Frequent | | | 184 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | GALNS CL E G H | 2588 | 4122 | OMIM:253000 | Morquio syndrome A | . | | | 123 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 128 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:218400 | Craniometaphyseal dysplasia, autosomal recessive | . | | | 68 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040282 - Frequent | | | 68 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:253010 | Mucopolysaccharidosis type IVB (Morquio) | . | | | 120 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252600 | Mucolipidosis III alpha/beta | . | | | 240 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | GORAB CL E G H | 92344 | 25676 | ORPHA:2078 | Geroderma osteodysplastica | HP:0040283 - Occasional | | | 52 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | GORAB CL E G H | 92344 | 25676 | OMIM:231070 | Geroderma osteodysplasticum | . | | | 52 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040281 - Very frequent | | | 73 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 5 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | HP:0040283 - Occasional | | | 30 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | H3-3B CL E G H | 3021 | 4765 | OMIM:619721 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2 | | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | HERC1 CL E G H | 8925 | 4867 | OMIM:617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | . | | | 16 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:615516 | Mental retardation, autosomal recessive 38 | . | | | 38 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | HP:0040283 - Occasional | | | 90 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | HNRNPH1 CL E G H | 3187 | 5041 | OMIM:620083 | | | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | HS6ST2 CL E G H | 90161 | 19133 | OMIM:301025 | Paganini-Miozzo syndrome | . | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | . | | | 25 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607016 | Scheie syndrome | . | | | 115 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | IL11RA CL E G H | 3590 | 5967 | OMIM:614188 | Craniosynostosis and dental anomalies | | | | 8 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | IL1RAPL1 CL E G H | 11141 | 5996 | OMIM:300143 | Mental retardation, X-linked 21 | | | | 42 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619750 | IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94 | | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | INSR CL E G H | 3643 | 6091 | OMIM:262190 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | . | | | 229 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040283 - Occasional | | | 229 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 119 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | . | | | 13 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | . | | | 9 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | . | | | 46 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | KPTN CL E G H | 11133 | 6404 | OMIM:615637 | Mental retardation, autosomal recessive 41 | . | | | 13 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 92 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | LRP4 CL E G H | 4038 | 6696 | OMIM:614305 | Sclerosteosis 2 | . | | | 124 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2790 | Endosteal hyperostosis, Worth type | HP:0040283 - Occasional | | | 125 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:3416 | Hyperostosis corticalis generalisata | HP:0040281 - Very frequent | | | 125 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:601216 | Dental anomalies and short stature | HP:0040283 - Occasional | | | 12 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | MAF CL E G H | 4094 | 6776 | OMIM:601088 | Ayme-Gripp syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | . | | | 63 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | . | | | 136 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | HP:0040283 - Occasional | | | 74 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99725 | Pituitary gigantism | HP:0040281 - Very frequent | | | 462 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | MESD CL E G H | 23184 | 13520 | OMIM:618644 | OSTEOGENESIS IMPERFECTA, TYPE XX; OI20 | | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | MSTO1 CL E G H | 55154 | 29678 | OMIM:617675 | Myopathy, mitochondrial, and ataxia | . | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | . | | | 166 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040283 - Occasional | | | 1269 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | MYH8 CL E G H | 4626 | 7578 | ORPHA:3377 | Trismus-pseudocamptodactyly syndrome | HP:0040283 - Occasional | | | 93 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | NDST1 CL E G H | 3340 | 7680 | OMIM:616116 | Mental retardation, autosomal recessive 46 | | | | 27 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:614753 | Sotos syndrome 2 | . | | | 40 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | NHS CL E G H | 4810 | 7820 | ORPHA:627 | Nance-Horan syndrome | HP:0040281 - Very frequent | | | 88 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | NSRP1 CL E G H | 84081 | 25305 | OMIM:620001 | | | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040283 - Occasional | | | 121 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040283 - Occasional | | | 88 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | | | | 55 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | . | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | HP:0040281 - Very frequent | | | 59 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | . | | | 59 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | . | | | 59 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PCDHGC4 CL E G H | 56098 | 8717 | OMIM:619880 | | | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:950 | Acrodysostosis | HP:0040282 - Frequent | | | 113 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PDE4D CL E G H | 5144 | 8783 | OMIM:614613 | Acrodysostosis 2 with or without hormone resistance | . | | | 113 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 113 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 20 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 84 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PIGV CL E G H | 55650 | 26031 | OMIM:239300 | Hyperphosphatasia with mental retardation | . | | | 57 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040282 - Frequent | | | 150 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | . | | | 10 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | . | | | 35 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 42 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | | | | 28 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93945 | X-linked intellectual disability, Porteous type | HP:0040282 - Frequent | | | 28 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93950 | X-linked intellectual disability, Sutherland-Haan type | HP:0040283 - Occasional | | | 28 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:950 | Acrodysostosis | HP:0040282 - Frequent | | | 134 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 134 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 665 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PTCH2 CL E G H | 8643 | 9586 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:2969 | Proteus-like syndrome | HP:0040282 - Frequent | | | 948 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | . | | | 291 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | PYCR1 CL E G H | 5831 | 9721 | ORPHA:2078 | Geroderma osteodysplastica | HP:0040283 - Occasional | | | 53 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611554 | LEOPARD SYNDROME 2; LPRD2 | | | | 212 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611553 | Noonan syndrome 5 | | | | 212 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:607095 | Anauxetic dysplasia | | | | 37 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | . | | | 3 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | RNF125 CL E G H | 54941 | 21150 | OMIM:616260 | Tenorio syndrome | . | | | 5 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:435938 | X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome | HP:0040280 - Obligate | | | 10 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | . | | | 65 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040282 - Frequent | | | 90 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | RUSC2 CL E G H | 9853 | 23625 | OMIM:617773 | Mental retardation, autosomal recessive 61 | . | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SETD2 CL E G H | 29072 | 18420 | OMIM:616831 | Luscan-Lumish syndrome | | | | 60 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SFRP4 CL E G H | 6424 | 10778 | OMIM:265900 | Pyle disease | . | | | 3 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SLC12A2 CL E G H | 6558 | 10911 | OMIM:619080 | KILQUIST SYNDROME; KILQS | | | | 2 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2963 | Progeroid syndrome, Petty type | HP:0040281 - Very frequent | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040283 - Occasional | | | 71 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SLC6A17 CL E G H | 388662 | 31399 | OMIM:616269 | Mental retardation, autosomal recessive 48 | . | | | 12 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SLC6A17 CL E G H | 388662 | 31399 | ORPHA:457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | . | | | 122 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | HP:0040283 - Occasional | | | 93 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | . | | | 93 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | | | | 504 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | HP:0040281 - Very frequent | | | 504 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | . | | | 19 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | HP:0040284 - Very rare | | | 19 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | | | | 37 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040283 - Occasional | | | 37 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SOST CL E G H | 50964 | 13771 | OMIM:122860 | Craniodiaphyseal dysplasia, autosomal dominant | . | | | 26 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SOST CL E G H | 50964 | 13771 | ORPHA:3416 | Hyperostosis corticalis generalisata | HP:0040281 - Very frequent | | | 26 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SOST CL E G H | 50964 | 13771 | OMIM:269500 | Sclerosteosis 1 | . | | | 26 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | . | | | 7 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:619595 | DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA | | | | 138 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:521258 | Xq25 microduplication syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | STEEP1 CL E G H | 63932 | 26239 | OMIM:301013 | MENTAL RETARDATION, X-LINKED 107; MRX107 | | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | STT3A CL E G H | 3703 | 6172 | OMIM:619714 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD | | | | 21 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SUZ12 CL E G H | 23512 | 17101 | OMIM:618786 | IMAGAWA-MATSUMOTO SYNDROME; IMMAS | | | | 1 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | SVIL CL E G H | 6840 | 11480 | OMIM:619040 | MYOFIBRILLAR MYOPATHY 10; MFM10 | | | | 1 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | . | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | TBC1D2B CL E G H | 23102 | 29183 | ORPHA:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | HP:0040282 - Frequent | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | TBC1D7 CL E G H | 51256 | 21066 | OMIM:248000 | Macrocephaly/megalencephaly syndrome, autosomal recessive | . | | | 4 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040284 - Very rare | | | 13 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:131300 | Camurati-Engelmann disease | | | | 13 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | THUMPD1 CL E G H | 55623 | 23807 | OMIM:619989 | | | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | TNFSF11 CL E G H | 8600 | 11926 | OMIM:259710 | Osteopetrosis, autosomal recessive 2 | . | | | 44 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | TNNI2 CL E G H | 7136 | 11946 | OMIM:601680 | Arthrogryposis, distal, type 2B | . | | | 37 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040283 - Occasional | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | . | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | TPRKB CL E G H | 51002 | 24259 | OMIM:617731 | Galloway-Mowat syndrome 5 | . | | | | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040283 - Occasional | | | 7128 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | . | | | 7 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | TXNL4A CL E G H | 10907 | 30551 | OMIM:608572 | Burn-Mckeown syndrome | . | | | 19 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | | | | 278 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | HP:0040283 - Occasional | | | 278 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040283 - Occasional | | | 278 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040283 - Occasional | | | 278 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98795 | Angelman syndrome due to paternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 278 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | UPF3B CL E G H | 65109 | 20439 | OMIM:300676 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 | | | | 33 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040282 - Frequent | | | 362 | | |
HP:0000303 | HP:0000303 | Mandibular prognathia | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040282 - Frequent | | | 362 | | |