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:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 96 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 88 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:293168 | Infantile-onset ascending hereditary spastic paralysis | | | | 114 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:607225 | Spastic paralysis, infantile-onset ascending | | | | 114 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ANG CL E G H | 283 | 483 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 32 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ANXA11 CL E G H | 311 | 535 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ANXA11 CL E G H | 311 | 535 | OMIM:619733 | INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 49 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 48 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | AP4E1 CL E G H | 23431 | 573 | OMIM:613744 | Spastic paraplegia 51, autosomal recessive | | | | 48 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 41 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | AP4M1 CL E G H | 9179 | 574 | OMIM:612936 | Spastic paraplegia 50, autosomal recessive | | | | 41 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 18 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300419 | Mental retardation, X-linked, with or without seizures, arx-related | | | | 166 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ATP10A CL E G H | 57194 | 13542 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 4 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:619606 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99 | | | | 150 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:128235 | Dystonia 12 | | | | 150 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:71517 | Rapid-onset dystonia-parkinsonism | | | | 150 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | | | | 36 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | | | | 169 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 11 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | AXIN2 CL E G H | 8313 | 904 | ORPHA:99798 | Oligodontia | | | | 435 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | | | | 101 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | BCORL1 CL E G H | 63035 | 25657 | OMIM:301029 | Shukla-Vernon syndrome | | | | 17 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 56 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | CAV1 CL E G H | 857 | 1527 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | | | | 11 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | CCN2 CL E G H | 1490 | 2500 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | CCNF CL E G H | 899 | 1591 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | CCR6 CL E G H | 1235 | 1607 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | CERT1 CL E G H | 10087 | 2205 | OMIM:616351 | Mental retardation, autosomal dominant 34 | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | CFAP410 CL E G H | 755 | 1260 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:60033 | Idiopathic bronchiectasis | | | | 1371 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | | | | 16 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 11 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 42 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | CHRM3 CL E G H | 1131 | 1952 | OMIM:100100 | Prune belly syndrome | | | | 4 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:601462 | Myasthenic syndrome, congenital, 1A, slow-channel | | | | 74 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | CLDN10 CL E G H | 9071 | 2033 | OMIM:617671 | Helix syndrome | | | | 3 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | CLDN11 CL E G H | 5010 | 8514 | OMIM:619328 | Leukodystrophy, hypomyelinating, 22 | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 90 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | DAO CL E G H | 1610 | 2671 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | DCTN1 CL E G H | 1639 | 2711 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 86 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:468620 | Intellectual disability-epilepsy-extrapyramidal syndrome | | | | 33 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | DLAT CL E G H | 1737 | 2896 | OMIM:245348 | Pyruvate dehydrogenase E2 deficiency | | | | 82 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | | | | 94 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:99798 | Oligodontia | | | | 115 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 56 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:99798 | Oligodontia | | | | 56 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | | | | 8 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ELOVL1 CL E G H | 64834 | 14418 | OMIM:618527 | Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | EPHA4 CL E G H | 2043 | 3388 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 4 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ERBB4 CL E G H | 2066 | 3432 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 15 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | F10 CL E G H | 2159 | 3528 | ORPHA:328 | Congenital factor X deficiency | | | | 33 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | F13A1 CL E G H | 2162 | 3531 | ORPHA:331 | Congenital factor XIII deficiency | | | | 60 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | F13B CL E G H | 2165 | 3534 | ORPHA:331 | Congenital factor XIII deficiency | | | | 32 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | F2 CL E G H | 2147 | 3535 | ORPHA:325 | Congenital factor II deficiency | | | | 44 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | F5 CL E G H | 2153 | 3542 | ORPHA:326 | Congenital factor V deficiency | | | | 159 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | F8 CL E G H | 2157 | 3546 | ORPHA:169802 | Severe hemophilia A | | | | 303 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | | | | 36 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | FBLN1 CL E G H | 2192 | 3600 | ORPHA:404451 | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | | | | 12 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:180920 | Aplasia of lacrimal and salivary glands | | | | 17 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:99798 | Oligodontia | | | | 172 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 111 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | | | | 4 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | | | | 177 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | | | | 177 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | FOXP1 CL E G H | 27086 | 3823 | OMIM:613670 | Mental retardation with language impairment and with or without autistic features | | | | 184 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | FOXP2 CL E G H | 93986 | 13875 | ORPHA:209908 | Childhood apraxia of speech | | | | 143 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 105 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | GABBR2 CL E G H | 9568 | 4507 | OMIM:617904 | Epileptic encephalopathy, early infantile, 59 | | | | 5 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | | | | 134 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | | | | 139 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:1945 | Rolandic epilepsy | | | | 139 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:233910 | Hyperphenylalaninemia, BH4-deficient, B | | | | 86 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | | | | 43 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | GFM2 CL E G H | 84340 | 29682 | OMIM:618397 | Combined oxidative phosphorylation deficiency 39 | | | | 43 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | GLE1 CL E G H | 2733 | 4315 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 45 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | GLT8D1 CL E G H | 55830 | 24870 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | GNAI3 CL E G H | 2773 | 4387 | OMIM:602483 | Auriculocondylar syndrome 1 | | | | 2 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | GPT2 CL E G H | 84706 | 18062 | OMIM:616281 | Mental retardation, autosomal recessive 49 | | | | 4 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | GPT2 CL E G H | 84706 | 18062 | ORPHA:477673 | Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome | | | | 4 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | GRIK2 CL E G H | 2898 | 4580 | OMIM:619580 | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS | | | | 32 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | | | | 108 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:1945 | Rolandic epilepsy | | | | 434 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | | | | 434 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | | | | 53 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | | | | 16 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | | | | 4 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | | | | 4 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | | | | 2 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | | | | 2 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 31 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | HOXB1 CL E G H | 3211 | 5111 | OMIM:614744 | Facial paresis, hereditary congenital, 3 | | | | 2 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | | | | 86 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | | | | 86 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | | | | 8 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | | | | 4 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | | | | 4 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:141291 | Cleft lip and alveolus | | | | 99 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:99798 | Oligodontia | | | | 99 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 127 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | | | | 283 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | | | | 283 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | KCNC2 CL E G H | 3747 | 6234 | OMIM:619913 | | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | KIF23 CL E G H | 9493 | 6392 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | | | | 1 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | | | | 411 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 92 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | LBR CL E G H | 3930 | 6518 | ORPHA:779 | Reynolds syndrome | | | | 70 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | LMNB2 CL E G H | 84823 | 6638 | OMIM:619180 | MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27 | | | | 11 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | LRP6 CL E G H | 4040 | 6698 | ORPHA:99798 | Oligodontia | | | | 26 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | MAT1A CL E G H | 4143 | 6903 | OMIM:250850 | METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY | | | | 82 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | MATR3 CL E G H | 9782 | 6912 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 80 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | | | | 228 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | | | | 532 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:141291 | Cleft lip and alveolus | | | | 12 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:99798 | Oligodontia | | | | 12 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:613559 | Combined oxidative phosphorylation deficiency 7 | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 131 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | | | | 48 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | NAXD CL E G H | 55739 | 25576 | OMIM:618321 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:141291 | Cleft lip and alveolus | | | | 4 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | NEFH CL E G H | 4744 | 7737 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 24 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 101 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | | | | 187 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:617321 | YAO SYNDROME; YAOS | | | | 187 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | | | | 12 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | NRXN1 CL E G H | 9378 | 8008 | OMIM:614325 | Pitt-Hopkins-Like syndrome 2 | | | | 470 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | NTNG2 CL E G H | 84628 | 14288 | OMIM:618718 | NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | | | | 121 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | OPTN CL E G H | 10133 | 17142 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 62 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PAK3 CL E G H | 5063 | 8592 | OMIM:300558 | MENTAL RETARDATION, X-LINKED 30; MRX30 | | | | 27 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PAX9 CL E G H | 5083 | 8623 | ORPHA:99798 | Oligodontia | | | | 58 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | | | | 225 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PDE10A CL E G H | 10846 | 8772 | OMIM:616921 | Dyskinesia, limb and orofacial, infantile-onset | | | | 5 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PDE10A CL E G H | 10846 | 8772 | ORPHA:494526 | Infantile-onset generalized dyskinesia with orofacial involvement | | | | 5 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PFN1 CL E G H | 5216 | 8881 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 6 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 11 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | | | | 133 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | | | | 3 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:98916 | Acute inflammatory demyelinating polyradiculoneuropathy | | | | 79 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 138 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | | | | 138 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 67 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PON1 CL E G H | 5444 | 9204 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 4 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PON2 CL E G H | 5445 | 9205 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 2 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PON3 CL E G H | 5446 | 9206 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 1 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | POU3F3 CL E G H | 5455 | 9216 | OMIM:618604 | SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PPARGC1A CL E G H | 10891 | 9237 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 1 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | | | | 10 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | | | | 134 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PRPH CL E G H | 5630 | 9461 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 25 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:301835 | Arts syndrome | | | | 49 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PTS CL E G H | 5805 | 9689 | ORPHA:13 | 6-pyruvoyl-tetrahydropterin synthase deficiency | | | | 19 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PTS CL E G H | 5805 | 9689 | OMIM:261640 | Hyperphenylalaninemia, BH4-deficient, A | | | | 19 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | | | | 166 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | QDPR CL E G H | 5860 | 9752 | OMIM:261630 | Hyperphenylalaninemia, bh4-deficient, C | | | | 43 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | RACGAP1 CL E G H | 29127 | 9804 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | | | | 2 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | RSRC1 CL E G H | 51319 | 24152 | OMIM:618402 | Intellectual developmental disorder, autosomal recessive 70 | | | | 2 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | | | | 34 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:576283 | SATB2-associated syndrome due to a pathogenic variant | | | | 34 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | | | | 1053 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | | | | 126 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | | | | 427 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | | | | 318 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:133020 | Erythermalgia, primary | | | | 318 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:60033 | Idiopathic bronchiectasis | | | | 67 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:60033 | Idiopathic bronchiectasis | | | | 61 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:60033 | Idiopathic bronchiectasis | | | | 57 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SELENBP1 CL E G H | 8991 | 10719 | OMIM:618148 | Extraoral halitosis due to MTO deficiency | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 144 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SERPINE1 CL E G H | 5054 | 8583 | ORPHA:465 | Congenital plasminogen activator inhibitor type 1 deficiency | | | | 39 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SERPING1 CL E G H | 710 | 1228 | ORPHA:100050 | Hereditary angioedema type 1 | | | | 64 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SETD5 CL E G H | 55209 | 25566 | OMIM:615761 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 | | | | 43 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | | | | 493 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | | | | 40 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SLC12A2 CL E G H | 6558 | 10911 | OMIM:619080 | KILQUIST SYNDROME; KILQS | | | | 2 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SLC12A5 CL E G H | 57468 | 13818 | OMIM:616645 | Epileptic encephalopathy, early infantile, 34 | | | | 8 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SLC16A2 CL E G H | 6567 | 10923 | OMIM:300523 | Allan-Herndon-Dudley syndrome | | | | 57 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SLC1A4 CL E G H | 6509 | 10942 | OMIM:616657 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | | | | 4 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | | | | 5 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | | | | 93 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | | | | 37 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 37 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SOD1 CL E G H | 6647 | 11179 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 53 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SPART CL E G H | 23111 | 18514 | OMIM:275900 | Spastic paraplegia 20, autosomal recessive | | | | 66 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 62 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 50 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:1945 | Rolandic epilepsy | | | | 50 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | | | | 50 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | | | | 110 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | | | | 12 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | STRADA CL E G H | 92335 | 30172 | ORPHA:500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | | | | 6 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SUMO1 CL E G H | 7341 | 12502 | ORPHA:99798 | Oligodontia | | | | 8 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | SYNGAP1 CL E G H | 8831 | 11497 | OMIM:612621 | Mental retardation, autosomal dominant 5 | | | | 108 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | TAF15 CL E G H | 8148 | 11547 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | | | | 12 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | TARDBP CL E G H | 23435 | 11571 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 65 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 20 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | | | | 22 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | TGFA CL E G H | 7039 | 11765 | ORPHA:99798 | Oligodontia | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | TH CL E G H | 7054 | 11782 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | | | | 80 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:141291 | Cleft lip and alveolus | | | | 140 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | | | | 140 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 54 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 108 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 31 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | TSPOAP1 CL E G H | 9256 | 16831 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | | | | 2 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | TUBB2B CL E G H | 347733 | 30829 | OMIM:610031 | Cortical dysplasia, complex, with other brain malformations 7 | | | | 39 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | | | | 64 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | | | | 278 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | | | | 278 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 278 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | | | | 278 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | UBQLN2 CL E G H | 29978 | 12509 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 20 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | UNC13A CL E G H | 23025 | 23150 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 1 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | VAC14 CL E G H | 55697 | 25507 | OMIM:617054 | Striatonigral degeneration, childhood-onset | | | | 6 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | VAPB CL E G H | 9217 | 12649 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 116 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 63 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | | | | 130 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:99798 | Oligodontia | | | | 71 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | WNT10B CL E G H | 7480 | 12775 | ORPHA:99798 | Oligodontia | | | | 4 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ZBTB11 CL E G H | 27107 | 16740 | OMIM:618383 | Intellectual developmental disorder, autosomal recessive 69 | | | | | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | | | | 1 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | | | | 19 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0031815 | HP:0031815 | Abnormal oral physiology | 0 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | | | | 362 | | |
HP:0031815 | HP:0032520 | Masseter muscular weakness | 1 | CL E G H | | | | | | | | | | |
HP:0031815 | HP:0032143 | Burning mouth | 1 | CL E G H | | | | | | | | | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 88 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | HP:0040284 - Very rare | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | ALS2 CL E G H | 57679 | 443 | ORPHA:293168 | Infantile-onset ascending hereditary spastic paralysis | HP:0040281 - Very frequent | | | 114 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | ALS2 CL E G H | 57679 | 443 | OMIM:607225 | Spastic paralysis, infantile-onset ascending | . | | | 114 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | ANG CL E G H | 283 | 483 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 32 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | ANXA11 CL E G H | 311 | 535 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | ANXA11 CL E G H | 311 | 535 | OMIM:619733 | INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA | | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 49 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 48 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | AP4E1 CL E G H | 23431 | 573 | OMIM:613744 | Spastic paraplegia 51, autosomal recessive | | | | 48 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 41 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | AP4M1 CL E G H | 9179 | 574 | OMIM:612936 | Spastic paraplegia 50, autosomal recessive | | | | 41 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 18 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | ARX CL E G H | 170302 | 18060 | OMIM:300419 | Mental retardation, X-linked, with or without seizures, arx-related | | | | 166 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | ATP10A CL E G H | 57194 | 13542 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 4 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | ATP1A3 CL E G H | 478 | 801 | OMIM:619606 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99 | | | | 150 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | ATP1A3 CL E G H | 478 | 801 | OMIM:128235 | Dystonia 12 | | | | 150 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | ATP1A3 CL E G H | 478 | 801 | ORPHA:71517 | Rapid-onset dystonia-parkinsonism | | | | 150 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | | | | 36 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | | | | 169 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 11 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | AXIN2 CL E G H | 8313 | 904 | ORPHA:99798 | Oligodontia | HP:0040281 - Very frequent | | | 435 | | |
HP:0031815 | HP:0030140 | Oral cavity bleeding | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 101 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | BCORL1 CL E G H | 63035 | 25657 | OMIM:301029 | Shukla-Vernon syndrome | | | | 17 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 56 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | CAV1 CL E G H | 857 | 1527 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | | | | 11 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | CCN2 CL E G H | 1490 | 2500 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | CCNF CL E G H | 899 | 1591 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | CCR6 CL E G H | 1235 | 1607 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | CERT1 CL E G H | 10087 | 2205 | OMIM:616351 | Mental retardation, autosomal dominant 34 | | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | CFAP410 CL E G H | 755 | 1260 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0031815 | HP:0100812 | Halitosis | 1 | CFTR CL E G H | 1080 | 1884 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040283 - Occasional | | | 1371 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | | | | 16 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 11 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 42 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | CHRM3 CL E G H | 1131 | 1952 | OMIM:100100 | Prune belly syndrome | | | | 4 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:601462 | Myasthenic syndrome, congenital, 1A, slow-channel | | | | 74 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | CLDN10 CL E G H | 9071 | 2033 | OMIM:617671 | Helix syndrome | | | | 3 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | CLDN11 CL E G H | 5010 | 8514 | OMIM:619328 | Leukodystrophy, hypomyelinating, 22 | | | | | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 90 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | DAO CL E G H | 1610 | 2671 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | DCTN1 CL E G H | 1639 | 2711 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 86 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:468620 | Intellectual disability-epilepsy-extrapyramidal syndrome | | | | 33 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | DLAT CL E G H | 1737 | 2896 | OMIM:245348 | Pyruvate dehydrogenase E2 deficiency | | | | 82 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | | | | 94 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | EDA CL E G H | 1896 | 3157 | ORPHA:99798 | Oligodontia | HP:0040281 - Very frequent | | | 115 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 56 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | EDARADD CL E G H | 128178 | 14341 | ORPHA:99798 | Oligodontia | HP:0040281 - Very frequent | | | 56 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | | | | 8 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | ELOVL1 CL E G H | 64834 | 14418 | OMIM:618527 | Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features | | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | EPHA4 CL E G H | 2043 | 3388 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 4 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | ERBB4 CL E G H | 2066 | 3432 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 15 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0031815 | HP:0030140 | Oral cavity bleeding | 1 | F10 CL E G H | 2159 | 3528 | ORPHA:328 | Congenital factor X deficiency | HP:0040283 - Occasional | | | 33 | | |
HP:0031815 | HP:0030140 | Oral cavity bleeding | 1 | F13A1 CL E G H | 2162 | 3531 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040282 - Frequent | | | 60 | | |
HP:0031815 | HP:0030140 | Oral cavity bleeding | 1 | F13B CL E G H | 2165 | 3534 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040282 - Frequent | | | 32 | | |
HP:0031815 | HP:0030140 | Oral cavity bleeding | 1 | F2 CL E G H | 2147 | 3535 | ORPHA:325 | Congenital factor II deficiency | HP:0040283 - Occasional | | | 44 | | |
HP:0031815 | HP:0030140 | Oral cavity bleeding | 1 | F5 CL E G H | 2153 | 3542 | ORPHA:326 | Congenital factor V deficiency | HP:0040283 - Occasional | | | 159 | | |
HP:0031815 | HP:0030140 | Oral cavity bleeding | 1 | F8 CL E G H | 2157 | 3546 | ORPHA:169802 | Severe hemophilia A | HP:0040282 - Frequent | | | 303 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | HP:0040283 - Occasional | | | 36 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | FBLN1 CL E G H | 2192 | 3600 | ORPHA:404451 | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | | | | 12 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | FGF10 CL E G H | 2255 | 3666 | OMIM:180920 | Aplasia of lacrimal and salivary glands | | | | 17 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:99798 | Oligodontia | HP:0040281 - Very frequent | | | 172 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 111 | | |
HP:0031815 | HP:0030140 | Oral cavity bleeding | 1 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 4 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | | | | 177 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | | | | 177 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | FOXP1 CL E G H | 27086 | 3823 | OMIM:613670 | Mental retardation with language impairment and with or without autistic features | | | | 184 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | FOXP2 CL E G H | 93986 | 13875 | ORPHA:209908 | Childhood apraxia of speech | | | | 143 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | FUS CL E G H | 2521 | 4010 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 105 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | GABBR2 CL E G H | 9568 | 4507 | OMIM:617904 | Epileptic encephalopathy, early infantile, 59 | | | | 5 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | | | | 134 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | | | | 139 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:1945 | Rolandic epilepsy | | | | 139 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | GCH1 CL E G H | 2643 | 4193 | OMIM:233910 | Hyperphenylalaninemia, BH4-deficient, B | | | | 86 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | | | | 43 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | GFM2 CL E G H | 84340 | 29682 | OMIM:618397 | Combined oxidative phosphorylation deficiency 39 | | | | 43 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | GLE1 CL E G H | 2733 | 4315 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 45 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | GLT8D1 CL E G H | 55830 | 24870 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | GNAI3 CL E G H | 2773 | 4387 | OMIM:602483 | Auriculocondylar syndrome 1 | . | | | 2 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | GPT2 CL E G H | 84706 | 18062 | OMIM:616281 | Mental retardation, autosomal recessive 49 | | | | 4 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | GPT2 CL E G H | 84706 | 18062 | ORPHA:477673 | Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome | | | | 4 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | GRIK2 CL E G H | 2898 | 4580 | OMIM:619580 | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS | | | | 32 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | HP:0040283 - Occasional | | | 108 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:1945 | Rolandic epilepsy | | | | 434 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | | | | 434 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | | | | 53 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | | | | 16 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 4 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | | | | 4 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | | | | 2 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 2 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 31 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | HOXB1 CL E G H | 3211 | 5111 | OMIM:614744 | Facial paresis, hereditary congenital, 3 | | | | 2 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040283 - Occasional | | | 86 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040283 - Occasional | | | 86 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | | | | 8 | | |
HP:0031815 | HP:0030140 | Oral cavity bleeding | 1 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 4 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | IRF5 CL E G H | 3663 | 6120 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | | | | 4 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | IRF6 CL E G H | 3664 | 6121 | ORPHA:141291 | Cleft lip and alveolus | HP:0040282 - Frequent | | | 99 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | IRF6 CL E G H | 3664 | 6121 | ORPHA:99798 | Oligodontia | HP:0040281 - Very frequent | | | 99 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 127 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | KCNC2 CL E G H | 3747 | 6234 | OMIM:619913 | | | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | | | | | | |
HP:0031815 | HP:0030140 | Oral cavity bleeding | 1 | KIF23 CL E G H | 9493 | 6392 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040283 - Occasional | | | 1 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | HP:0040282 - Frequent | | | 411 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 92 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | LBR CL E G H | 3930 | 6518 | ORPHA:779 | Reynolds syndrome | | | | 70 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | LMNB2 CL E G H | 84823 | 6638 | OMIM:619180 | MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27 | | | | 11 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | LRP6 CL E G H | 4040 | 6698 | ORPHA:99798 | Oligodontia | HP:0040281 - Very frequent | | | 26 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0031815 | HP:0100812 | Halitosis | 1 | MAT1A CL E G H | 4143 | 6903 | OMIM:250850 | METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY | . | | | 82 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | MATR3 CL E G H | 9782 | 6912 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 80 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | | | | 228 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | | | | 532 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | MSX1 CL E G H | 4487 | 7391 | ORPHA:141291 | Cleft lip and alveolus | HP:0040282 - Frequent | | | 12 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | MSX1 CL E G H | 4487 | 7391 | ORPHA:99798 | Oligodontia | HP:0040281 - Very frequent | | | 12 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | HP:0040283 - Occasional | | | | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | MTRFR CL E G H | 91574 | 26784 | OMIM:613559 | Combined oxidative phosphorylation deficiency 7 | | | | | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 131 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0031815 | HP:0030140 | Oral cavity bleeding | 1 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | | | | 48 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | NAXD CL E G H | 55739 | 25576 | OMIM:618321 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | | | | | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:141291 | Cleft lip and alveolus | HP:0040282 - Frequent | | | 4 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | NEFH CL E G H | 4744 | 7737 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 24 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | NEK1 CL E G H | 4750 | 7744 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 101 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | | | | 187 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | NOD2 CL E G H | 64127 | 5331 | OMIM:617321 | YAO SYNDROME; YAOS | | | | 187 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0031815 | HP:0030140 | Oral cavity bleeding | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 12 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | NRXN1 CL E G H | 9378 | 8008 | OMIM:614325 | Pitt-Hopkins-Like syndrome 2 | | | | 470 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | NTNG2 CL E G H | 84628 | 14288 | OMIM:618718 | NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH | | | | | | |
HP:0031815 | HP:0030140 | Oral cavity bleeding | 1 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | | | | 121 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | OPTN CL E G H | 10133 | 17142 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 62 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 3 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | PAK3 CL E G H | 5063 | 8592 | OMIM:300558 | MENTAL RETARDATION, X-LINKED 30; MRX30 | | | | 27 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | PAX9 CL E G H | 5083 | 8623 | ORPHA:99798 | Oligodontia | HP:0040281 - Very frequent | | | 58 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | | | | 225 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | PDE10A CL E G H | 10846 | 8772 | OMIM:616921 | Dyskinesia, limb and orofacial, infantile-onset | | | | 5 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | PDE10A CL E G H | 10846 | 8772 | ORPHA:494526 | Infantile-onset generalized dyskinesia with orofacial involvement | | | | 5 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | PFN1 CL E G H | 5216 | 8881 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 6 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 11 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | | | | 133 | | |
HP:0031815 | HP:0030140 | Oral cavity bleeding | 1 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 3 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:98916 | Acute inflammatory demyelinating polyradiculoneuropathy | | | | 79 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 138 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | | | | 138 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 67 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | PON1 CL E G H | 5444 | 9204 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 4 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | PON2 CL E G H | 5445 | 9205 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 2 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | PON3 CL E G H | 5446 | 9206 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 1 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | POU3F3 CL E G H | 5455 | 9216 | OMIM:618604 | SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS | | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | PPARGC1A CL E G H | 10891 | 9237 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 1 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | HP:0040284 - Very rare | | | 10 | | |
HP:0031815 | HP:0030140 | Oral cavity bleeding | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 134 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | PRPH CL E G H | 5630 | 9461 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 25 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | PRPS1 CL E G H | 5631 | 9462 | OMIM:301835 | Arts syndrome | | | | 49 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 3 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | PTS CL E G H | 5805 | 9689 | ORPHA:13 | 6-pyruvoyl-tetrahydropterin synthase deficiency | | | | 19 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | PTS CL E G H | 5805 | 9689 | OMIM:261640 | Hyperphenylalaninemia, BH4-deficient, A | | | | 19 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | HP:0040284 - Very rare | | | 166 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | QDPR CL E G H | 5860 | 9752 | OMIM:261630 | Hyperphenylalaninemia, bh4-deficient, C | | | | 43 | | |
HP:0031815 | HP:0030140 | Oral cavity bleeding | 1 | RACGAP1 CL E G H | 29127 | 9804 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040283 - Occasional | | | | | |
HP:0031815 | HP:0030140 | Oral cavity bleeding | 1 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 2 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | RSRC1 CL E G H | 51319 | 24152 | OMIM:618402 | Intellectual developmental disorder, autosomal recessive 70 | | | | 2 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | | | | 34 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:576283 | SATB2-associated syndrome due to a pathogenic variant | | | | 34 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | | | | 1053 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | | | | 126 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | | | | 427 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | | | | 318 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SCN9A CL E G H | 6335 | 10597 | OMIM:133020 | Erythermalgia, primary | | | | 318 | | |
HP:0031815 | HP:0100812 | Halitosis | 1 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040283 - Occasional | | | 67 | | |
HP:0031815 | HP:0100812 | Halitosis | 1 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040283 - Occasional | | | 61 | | |
HP:0031815 | HP:0100812 | Halitosis | 1 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040283 - Occasional | | | 57 | | |
HP:0031815 | HP:0100812 | Halitosis | 1 | SELENBP1 CL E G H | 8991 | 10719 | OMIM:618148 | Extraoral halitosis due to MTO deficiency | . | | | | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0031815 | HP:0040184 | Oral bleeding | 1 | SERPINE1 CL E G H | 5054 | 8583 | ORPHA:465 | Congenital plasminogen activator inhibitor type 1 deficiency | HP:0040283 - Occasional | | | 39 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SERPING1 CL E G H | 710 | 1228 | ORPHA:100050 | Hereditary angioedema type 1 | HP:0040282 - Frequent | | | 64 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SETD5 CL E G H | 55209 | 25566 | OMIM:615761 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 | | | | 43 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | | | | 493 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | | | | 40 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SLC12A2 CL E G H | 6558 | 10911 | OMIM:619080 | KILQUIST SYNDROME; KILQS | | | | 2 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SLC12A5 CL E G H | 57468 | 13818 | OMIM:616645 | Epileptic encephalopathy, early infantile, 34 | | | | 8 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SLC16A2 CL E G H | 6567 | 10923 | OMIM:300523 | Allan-Herndon-Dudley syndrome | | | | 57 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SLC1A4 CL E G H | 6509 | 10942 | OMIM:616657 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | | | | 4 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | | | | 5 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | | | | 93 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | | | | 37 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 37 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SOD1 CL E G H | 6647 | 11179 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 53 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SPART CL E G H | 23111 | 18514 | OMIM:275900 | Spastic paraplegia 20, autosomal recessive | | | | 66 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 62 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 50 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:1945 | Rolandic epilepsy | | | | 50 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | | | | 50 | | |
HP:0031815 | HP:0030140 | Oral cavity bleeding | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 110 | | |
HP:0031815 | HP:0030140 | Oral cavity bleeding | 1 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 12 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | STRADA CL E G H | 92335 | 30172 | ORPHA:500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | | | | 6 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | SUMO1 CL E G H | 7341 | 12502 | ORPHA:99798 | Oligodontia | HP:0040281 - Very frequent | | | 8 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | SYNGAP1 CL E G H | 8831 | 11497 | OMIM:612621 | Mental retardation, autosomal dominant 5 | | | | 108 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | TAF15 CL E G H | 8148 | 11547 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | | | | 12 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | TARDBP CL E G H | 23435 | 11571 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 65 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | TBK1 CL E G H | 29110 | 11584 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 20 | | |
HP:0031815 | HP:0030140 | Oral cavity bleeding | 1 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 22 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | TGFA CL E G H | 7039 | 11765 | ORPHA:99798 | Oligodontia | HP:0040281 - Very frequent | | | | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | TH CL E G H | 7054 | 11782 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | | | | 80 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:141291 | Cleft lip and alveolus | HP:0040282 - Frequent | | | 140 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | | | | 140 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | TREM2 CL E G H | 54209 | 17761 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 31 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | TSPOAP1 CL E G H | 9256 | 16831 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | | | | 2 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | TUBB2B CL E G H | 347733 | 30829 | OMIM:610031 | Cortical dysplasia, complex, with other brain malformations 7 | | | | 39 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040283 - Occasional | | | 64 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | | | | 278 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | | | | 278 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 278 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | | | | 278 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | UBQLN2 CL E G H | 29978 | 12509 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 20 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | UNC13A CL E G H | 23025 | 23150 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 1 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | VAC14 CL E G H | 55697 | 25507 | OMIM:617054 | Striatonigral degeneration, childhood-onset | | | | 6 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | VAPB CL E G H | 9217 | 12649 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 116 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 63 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | | | | 130 | | |
HP:0031815 | HP:0040184 | Oral bleeding | 1 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | . | | | 65 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | WNT10A CL E G H | 80326 | 13829 | ORPHA:99798 | Oligodontia | HP:0040281 - Very frequent | | | 71 | | |
HP:0031815 | HP:0005216 | Impaired mastication | 1 | WNT10B CL E G H | 7480 | 12775 | ORPHA:99798 | Oligodontia | HP:0040281 - Very frequent | | | 4 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | ZBTB11 CL E G H | 27107 | 16740 | OMIM:618383 | Intellectual developmental disorder, autosomal recessive 69 | | | | | | |
HP:0031815 | HP:0030140 | Oral cavity bleeding | 1 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 1 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | | | | 19 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0031815 | HP:0100755 | Abnormality of salivation | 1 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | | | | 362 | | |
HP:0031815 | HP:0032142 | Fetor hepaticus | 2 | CL E G H | | | | | | | | | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 88 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | ANG CL E G H | 283 | 483 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 32 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | ANXA11 CL E G H | 311 | 535 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | ANXA11 CL E G H | 311 | 535 | OMIM:619733 | INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA | | | | | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 49 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 48 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | AP4E1 CL E G H | 23431 | 573 | OMIM:613744 | Spastic paraplegia 51, autosomal recessive | | | | 48 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 41 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | AP4M1 CL E G H | 9179 | 574 | OMIM:612936 | Spastic paraplegia 50, autosomal recessive | | | | 41 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 18 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | ARX CL E G H | 170302 | 18060 | OMIM:300419 | Mental retardation, X-linked, with or without seizures, arx-related | | | | 166 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | ATP10A CL E G H | 57194 | 13542 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 4 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | ATP1A3 CL E G H | 478 | 801 | OMIM:619606 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99 | | | | 150 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | ATP1A3 CL E G H | 478 | 801 | OMIM:128235 | Dystonia 12 | | | | 150 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | ATP1A3 CL E G H | 478 | 801 | ORPHA:71517 | Rapid-onset dystonia-parkinsonism | | | | 150 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | | | | 36 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | | | | 169 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 11 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | BCORL1 CL E G H | 63035 | 25657 | OMIM:301029 | Shukla-Vernon syndrome | | | | 17 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 56 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | CAV1 CL E G H | 857 | 1527 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040282 - Frequent | | | 11 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | CCN2 CL E G H | 1490 | 2500 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040282 - Frequent | | | | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | CCNF CL E G H | 899 | 1591 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | CCR6 CL E G H | 1235 | 1607 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040282 - Frequent | | | | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | CERT1 CL E G H | 10087 | 2205 | OMIM:616351 | Mental retardation, autosomal dominant 34 | | | | | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | CFAP410 CL E G H | 755 | 1260 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | | | | 16 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 11 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 42 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | CHRM3 CL E G H | 1131 | 1952 | OMIM:100100 | Prune belly syndrome | . | | | 4 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | CLDN10 CL E G H | 9071 | 2033 | OMIM:617671 | Helix syndrome | | | | 3 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | CLDN11 CL E G H | 5010 | 8514 | OMIM:619328 | Leukodystrophy, hypomyelinating, 22 | | | | | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | DAO CL E G H | 1610 | 2671 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | DCTN1 CL E G H | 1639 | 2711 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 86 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:468620 | Intellectual disability-epilepsy-extrapyramidal syndrome | | | | 33 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | DLAT CL E G H | 1737 | 2896 | OMIM:245348 | Pyruvate dehydrogenase E2 deficiency | | | | 82 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | | | | 94 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | | | | 8 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | ELOVL1 CL E G H | 64834 | 14418 | OMIM:618527 | Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features | | | | | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | EPHA4 CL E G H | 2043 | 3388 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 4 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | ERBB4 CL E G H | 2066 | 3432 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 15 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | FBLN1 CL E G H | 2192 | 3600 | ORPHA:404451 | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | | | | 12 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | FGF10 CL E G H | 2255 | 3666 | OMIM:180920 | Aplasia of lacrimal and salivary glands | . | | | 17 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040282 - Frequent | | | 17 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | FIG4 CL E G H | 9896 | 16873 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 111 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | HP:0040282 - Frequent | | | 177 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | | | | 177 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | FOXP1 CL E G H | 27086 | 3823 | OMIM:613670 | Mental retardation with language impairment and with or without autistic features | | | | 184 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | FOXP2 CL E G H | 93986 | 13875 | ORPHA:209908 | Childhood apraxia of speech | | | | 143 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | FUS CL E G H | 2521 | 4010 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 105 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | GABBR2 CL E G H | 9568 | 4507 | OMIM:617904 | Epileptic encephalopathy, early infantile, 59 | | | | 5 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | | | | 134 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | | | | 139 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:1945 | Rolandic epilepsy | | | | 139 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | GCH1 CL E G H | 2643 | 4193 | OMIM:233910 | Hyperphenylalaninemia, BH4-deficient, B | . | | | 86 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | | | | 43 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | GFM2 CL E G H | 84340 | 29682 | OMIM:618397 | Combined oxidative phosphorylation deficiency 39 | | | | 43 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | GLE1 CL E G H | 2733 | 4315 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 45 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | GLT8D1 CL E G H | 55830 | 24870 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | GPT2 CL E G H | 84706 | 18062 | OMIM:616281 | Mental retardation, autosomal recessive 49 | | | | 4 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | GPT2 CL E G H | 84706 | 18062 | ORPHA:477673 | Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome | | | | 4 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | GRIK2 CL E G H | 2898 | 4580 | OMIM:619580 | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS | | | | 32 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:1945 | Rolandic epilepsy | | | | 434 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | | | | 434 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | HP:0040282 - Frequent | | | 53 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | | | | 16 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040282 - Frequent | | | 2 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 31 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | IRF5 CL E G H | 3663 | 6120 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040282 - Frequent | | | 4 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | KCNC2 CL E G H | 3747 | 6234 | OMIM:619913 | | | | | | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | | | | | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | LBR CL E G H | 3930 | 6518 | ORPHA:779 | Reynolds syndrome | HP:0040282 - Frequent | | | 70 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | LMNB2 CL E G H | 84823 | 6638 | OMIM:619180 | MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27 | | | | 11 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | MATR3 CL E G H | 9782 | 6912 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 80 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | . | | | 950 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | | | | 228 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | | | | 532 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | | | | 48 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | NAXD CL E G H | 55739 | 25576 | OMIM:618321 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | | | | | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | NEFH CL E G H | 4744 | 7737 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 24 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | NEK1 CL E G H | 4750 | 7744 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 101 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | HP:0040283 - Occasional | | | 187 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | NOD2 CL E G H | 64127 | 5331 | OMIM:617321 | YAO SYNDROME; YAOS | | | | 187 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | NRXN1 CL E G H | 9378 | 8008 | OMIM:614325 | Pitt-Hopkins-Like syndrome 2 | | | | 470 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | NTNG2 CL E G H | 84628 | 14288 | OMIM:618718 | NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH | | | | | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | | | | 121 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | OPTN CL E G H | 10133 | 17142 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 62 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | PAK3 CL E G H | 5063 | 8592 | OMIM:300558 | MENTAL RETARDATION, X-LINKED 30; MRX30 | | | | 27 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | | | | 225 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | | | | | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | PDE10A CL E G H | 10846 | 8772 | OMIM:616921 | Dyskinesia, limb and orofacial, infantile-onset | | | | 5 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | PDE10A CL E G H | 10846 | 8772 | ORPHA:494526 | Infantile-onset generalized dyskinesia with orofacial involvement | | | | 5 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | PFN1 CL E G H | 5216 | 8881 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 6 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 11 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | | | | 133 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | PMP22 CL E G H | 5376 | 9118 | ORPHA:98916 | Acute inflammatory demyelinating polyradiculoneuropathy | | | | 79 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 138 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | | | | 138 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 67 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | PON1 CL E G H | 5444 | 9204 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 4 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | PON2 CL E G H | 5445 | 9205 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 2 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | PON3 CL E G H | 5446 | 9206 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 1 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | POU3F3 CL E G H | 5455 | 9216 | OMIM:618604 | SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS | | | | | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | PPARGC1A CL E G H | 10891 | 9237 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 1 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | PRPH CL E G H | 5630 | 9461 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 25 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | PRPS1 CL E G H | 5631 | 9462 | OMIM:301835 | Arts syndrome | | | | 49 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | PTS CL E G H | 5805 | 9689 | ORPHA:13 | 6-pyruvoyl-tetrahydropterin synthase deficiency | HP:0040283 - Occasional | | | 19 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | PTS CL E G H | 5805 | 9689 | OMIM:261640 | Hyperphenylalaninemia, BH4-deficient, A | . | | | 19 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | QDPR CL E G H | 5860 | 9752 | OMIM:261630 | Hyperphenylalaninemia, bh4-deficient, C | . | | | 43 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | RSRC1 CL E G H | 51319 | 24152 | OMIM:618402 | Intellectual developmental disorder, autosomal recessive 70 | | | | 2 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | | | | 34 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SATB2 CL E G H | 23314 | 21637 | ORPHA:576283 | SATB2-associated syndrome due to a pathogenic variant | | | | 34 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | | | | 1053 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | | | | 126 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | | | | 427 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | | | | 318 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | SCN9A CL E G H | 6335 | 10597 | OMIM:133020 | Erythermalgia, primary | . | | | 318 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SETD5 CL E G H | 55209 | 25566 | OMIM:615761 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 | | | | 43 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | | | | 493 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | SLC12A2 CL E G H | 6558 | 10911 | OMIM:619080 | KILQUIST SYNDROME; KILQS | | | | 2 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SLC12A5 CL E G H | 57468 | 13818 | OMIM:616645 | Epileptic encephalopathy, early infantile, 34 | | | | 8 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SLC16A2 CL E G H | 6567 | 10923 | OMIM:300523 | Allan-Herndon-Dudley syndrome | | | | 57 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SLC1A4 CL E G H | 6509 | 10942 | OMIM:616657 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | | | | 4 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | | | | 93 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | | | | 37 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 37 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | SOD1 CL E G H | 6647 | 11179 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 53 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SPART CL E G H | 23111 | 18514 | OMIM:275900 | Spastic paraplegia 20, autosomal recessive | | | | 66 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 62 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 50 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:1945 | Rolandic epilepsy | | | | 50 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | | | | 50 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | STRADA CL E G H | 92335 | 30172 | ORPHA:500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | | | | 6 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | SYNGAP1 CL E G H | 8831 | 11497 | OMIM:612621 | Mental retardation, autosomal dominant 5 | | | | 108 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | TAF15 CL E G H | 8148 | 11547 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | | | | 12 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | TARDBP CL E G H | 23435 | 11571 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 65 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | TBK1 CL E G H | 29110 | 11584 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 20 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | TH CL E G H | 7054 | 11782 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 80 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | TREM2 CL E G H | 54209 | 17761 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 31 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | TSPOAP1 CL E G H | 9256 | 16831 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 2 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | TUBB2B CL E G H | 347733 | 30829 | OMIM:610031 | Cortical dysplasia, complex, with other brain malformations 7 | | | | 39 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | | | | 278 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | | | | 278 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 278 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | | | | 278 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | UBQLN2 CL E G H | 29978 | 12509 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 20 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | UNC13A CL E G H | 23025 | 23150 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 1 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | VAC14 CL E G H | 55697 | 25507 | OMIM:617054 | Striatonigral degeneration, childhood-onset | . | | | 6 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | VAPB CL E G H | 9217 | 12649 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 116 | | |
HP:0031815 | HP:0000217 | Xerostomia | 2 | VCP CL E G H | 7415 | 12666 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 63 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | | | | 130 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | ZBTB11 CL E G H | 27107 | 16740 | OMIM:618383 | Intellectual developmental disorder, autosomal recessive 69 | | | | | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | | | | 19 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0031815 | HP:0003781 | Excessive salivation | 2 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | | | | 362 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 88 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | . | | | 114 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | ANXA11 CL E G H | 311 | 535 | OMIM:619733 | INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA | | | | | | |
HP:0031815 | HP:0002307 | Drooling | 3 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 49 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 48 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | AP4E1 CL E G H | 23431 | 573 | OMIM:613744 | Spastic paraplegia 51, autosomal recessive | . | | | 48 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 41 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | AP4M1 CL E G H | 9179 | 574 | OMIM:612936 | Spastic paraplegia 50, autosomal recessive | . | | | 41 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 18 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | ARX CL E G H | 170302 | 18060 | OMIM:300419 | Mental retardation, X-linked, with or without seizures, arx-related | | | | 166 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | ATP10A CL E G H | 57194 | 13542 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040283 - Occasional | | | 4 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | ATP1A3 CL E G H | 478 | 801 | OMIM:619606 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99 | | | | 150 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | ATP1A3 CL E G H | 478 | 801 | OMIM:128235 | Dystonia 12 | . | | | 150 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | ATP1A3 CL E G H | 478 | 801 | ORPHA:71517 | Rapid-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 150 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | HP:0040283 - Occasional | | | 36 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | . | | | 315 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | BCORL1 CL E G H | 63035 | 25657 | OMIM:301029 | Shukla-Vernon syndrome | . | | | 17 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | CERT1 CL E G H | 10087 | 2205 | OMIM:616351 | Mental retardation, autosomal dominant 34 | . | | | | | |
HP:0031815 | HP:0002307 | Drooling | 3 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | | | | 16 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | CLDN11 CL E G H | 5010 | 8514 | OMIM:619328 | Leukodystrophy, hypomyelinating, 22 | | | | | | |
HP:0031815 | HP:0002307 | Drooling | 3 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:468620 | Intellectual disability-epilepsy-extrapyramidal syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | DLAT CL E G H | 1737 | 2896 | OMIM:245348 | Pyruvate dehydrogenase E2 deficiency | . | | | 82 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | 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:0031815 | HP:0002307 | Drooling | 3 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | | | | 94 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | . | | | 8 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | FBLN1 CL E G H | 2192 | 3600 | ORPHA:404451 | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0031815 | HP:0002307 | Drooling | 3 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | . | | | 177 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | FOXP1 CL E G H | 27086 | 3823 | OMIM:613670 | Mental retardation with language impairment and with or without autistic features | | | | 184 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | FOXP2 CL E G H | 93986 | 13875 | ORPHA:209908 | Childhood apraxia of speech | HP:0040283 - Occasional | | | 143 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | GABBR2 CL E G H | 9568 | 4507 | OMIM:617904 | Epileptic encephalopathy, early infantile, 59 | . | | | 5 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 134 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 139 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:1945 | Rolandic epilepsy | HP:0040282 - Frequent | | | 139 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | HP:0040283 - Occasional | | | 43 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | GFM2 CL E G H | 84340 | 29682 | OMIM:618397 | Combined oxidative phosphorylation deficiency 39 | . | | | 43 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | . | | | 69 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | GPT2 CL E G H | 84706 | 18062 | OMIM:616281 | Mental retardation, autosomal recessive 49 | . | | | 4 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | GPT2 CL E G H | 84706 | 18062 | ORPHA:477673 | Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | GRIK2 CL E G H | 2898 | 4580 | OMIM:619580 | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS | | | | 32 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:1945 | Rolandic epilepsy | HP:0040282 - Frequent | | | 434 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | HP:0040282 - Frequent | | | 434 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0031815 | HP:0002307 | Drooling | 3 | KCNC2 CL E G H | 3747 | 6234 | OMIM:619913 | | | | | | | |
HP:0031815 | HP:0002307 | Drooling | 3 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0031815 | HP:0002307 | Drooling | 3 | LMNB2 CL E G H | 84823 | 6638 | OMIM:619180 | MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27 | | | | 11 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | HP:0040282 - Frequent | | | 228 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0031815 | HP:0002307 | Drooling | 3 | 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:0031815 | HP:0002307 | Drooling | 3 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | HP:0040283 - Occasional | | | 532 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0031815 | HP:0002307 | Drooling | 3 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | | | | 48 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | NAXD CL E G H | 55739 | 25576 | OMIM:618321 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | | | | | | |
HP:0031815 | HP:0002307 | Drooling | 3 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | NRXN1 CL E G H | 9378 | 8008 | OMIM:614325 | Pitt-Hopkins-Like syndrome 2 | . | | | 470 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | NTNG2 CL E G H | 84628 | 14288 | OMIM:618718 | NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH | | | | | | |
HP:0031815 | HP:0002307 | Drooling | 3 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 121 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | PAK3 CL E G H | 5063 | 8592 | OMIM:300558 | MENTAL RETARDATION, X-LINKED 30; MRX30 | | | | 27 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 225 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | HP:0040284 - Very rare | | | | | |
HP:0031815 | HP:0002307 | Drooling | 3 | PDE10A CL E G H | 10846 | 8772 | OMIM:616921 | Dyskinesia, limb and orofacial, infantile-onset | | | | 5 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | PDE10A CL E G H | 10846 | 8772 | ORPHA:494526 | Infantile-onset generalized dyskinesia with orofacial involvement | HP:0040282 - Frequent | | | 5 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 11 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | HP:0040283 - Occasional | | | 133 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | PMP22 CL E G H | 5376 | 9118 | ORPHA:98916 | Acute inflammatory demyelinating polyradiculoneuropathy | HP:0040282 - Frequent | | | 79 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 138 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 67 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | POU3F3 CL E G H | 5455 | 9216 | OMIM:618604 | SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS | | | | | | |
HP:0031815 | HP:0002307 | Drooling | 3 | PRPS1 CL E G H | 5631 | 9462 | OMIM:301835 | Arts syndrome | . | | | 49 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | RSRC1 CL E G H | 51319 | 24152 | OMIM:618402 | Intellectual developmental disorder, autosomal recessive 70 | | | | 2 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040282 - Frequent | | | 34 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SATB2 CL E G H | 23314 | 21637 | ORPHA:576283 | SATB2-associated syndrome due to a pathogenic variant | HP:0040282 - Frequent | | | 34 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 1053 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 126 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 427 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 318 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SETD5 CL E G H | 55209 | 25566 | OMIM:615761 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 | | | | 43 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | HP:0040283 - Occasional | | | 493 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SLC16A2 CL E G H | 6567 | 10923 | OMIM:300523 | Allan-Herndon-Dudley syndrome | . | | | 57 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SLC1A4 CL E G H | 6509 | 10942 | OMIM:616657 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | | | | 4 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | | | | 93 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | . | | | 37 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SNRPN CL E G H | 6638 | 11164 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040283 - Occasional | | | 37 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SPART CL E G H | 23111 | 18514 | OMIM:275900 | Spastic paraplegia 20, autosomal recessive | . | | | 66 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 50 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:1945 | Rolandic epilepsy | HP:0040282 - Frequent | | | 50 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | STRADA CL E G H | 92335 | 30172 | ORPHA:500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | SYNGAP1 CL E G H | 8831 | 11497 | OMIM:612621 | Mental retardation, autosomal dominant 5 | | | | 108 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | . | | | 12 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0031815 | HP:0002307 | Drooling | 3 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | TUBB2B CL E G H | 347733 | 30829 | OMIM:610031 | Cortical dysplasia, complex, with other brain malformations 7 | . | | | 39 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | . | | | 278 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | HP:0040283 - Occasional | | | 278 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040283 - Occasional | | | 278 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 278 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | VAC14 CL E G H | 55697 | 25507 | OMIM:617054 | Striatonigral degeneration, childhood-onset | . | | | 6 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | . | | | 130 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | ZBTB11 CL E G H | 27107 | 16740 | OMIM:618383 | Intellectual developmental disorder, autosomal recessive 69 | . | | | | | |
HP:0031815 | HP:0002307 | Drooling | 3 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | . | | | 19 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0031815 | HP:0002307 | Drooling | 3 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | . | | | 362 | | |