Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the face (HP:0000271)help
Parent Node:
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Abnormality of the mouth (HP:0000153)help
..Starting node
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Abnormal oral physiology (HP:0031815)help
Term ID: 31815
Name: Abnormal oral physiology
Synonym:
Definition: A functional anomaly of the mouth (which is also known as the oral cavity).
Comments:
Reference: HP:0031815
Genes and Diseases:
 
       Child Nodes:
........expandImpaired mastication (HP:0005216) help
........expandOral cavity bleeding (HP:0030140) help
........expandOral bleeding (HP:0040184) help
........expandAbnormality of salivation (HP:0100755) help
................... HP:0000217 Xerostomia
................... HP:0003781 Excessive salivation
........expandHalitosis (HP:0100812) help

 Sister Nodes: 
..expandAbnormal oral morphology (HP:0031816) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031815HP:0031815Abnormal oral physiology0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathy96
HP:0031815HP:0031815Abnormal oral physiology0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0031815HP:0031815Abnormal oral physiology0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0031815HP:0031815Abnormal oral physiology0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0031815HP:0031815Abnormal oral physiology0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0031815HP:0031815Abnormal oral physiology0ALS2 CL E G H57679443ORPHA:293168Infantile-onset ascending hereditary spastic paralysis114
HP:0031815HP:0031815Abnormal oral physiology0ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending114
HP:0031815HP:0031815Abnormal oral physiology0ANG CL E G H283483ORPHA:803Amyotrophic lateral sclerosis32
HP:0031815HP:0031815Abnormal oral physiology0ANXA11 CL E G H311535ORPHA:803Amyotrophic lateral sclerosis
HP:0031815HP:0031815Abnormal oral physiology0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0031815HP:0031815Abnormal oral physiology0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegia49
HP:0031815HP:0031815Abnormal oral physiology0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegia48
HP:0031815HP:0031815Abnormal oral physiology0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive48
HP:0031815HP:0031815Abnormal oral physiology0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegia41
HP:0031815HP:0031815Abnormal oral physiology0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive41
HP:0031815HP:0031815Abnormal oral physiology0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegia18
HP:0031815HP:0031815Abnormal oral physiology0ARX CL E G H17030218060OMIM:300419Mental retardation, X-linked, with or without seizures, arx-related166
HP:0031815HP:0031815Abnormal oral physiology0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q134
HP:0031815HP:0031815Abnormal oral physiology0ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0031815HP:0031815Abnormal oral physiology0ATP1A3 CL E G H478801OMIM:128235Dystonia 12150
HP:0031815HP:0031815Abnormal oral physiology0ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonism150
HP:0031815HP:0031815Abnormal oral physiology0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0031815HP:0031815Abnormal oral physiology0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera type36
HP:0031815HP:0031815Abnormal oral physiology0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0031815HP:0031815Abnormal oral physiology0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0031815HP:0031815Abnormal oral physiology0ATXN2 CL E G H631110555ORPHA:803Amyotrophic lateral sclerosis11
HP:0031815HP:0031815Abnormal oral physiology0AXIN2 CL E G H8313904ORPHA:99798Oligodontia435
HP:0031815HP:0031815Abnormal oral physiology0BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemia101
HP:0031815HP:0031815Abnormal oral physiology0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome17
HP:0031815HP:0031815Abnormal oral physiology0C9ORF72 CL E G H20322828337ORPHA:803Amyotrophic lateral sclerosis56
HP:0031815HP:0031815Abnormal oral physiology0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0031815HP:0031815Abnormal oral physiology0CAV1 CL E G H8571527ORPHA:220393Diffuse cutaneous systemic sclerosis11
HP:0031815HP:0031815Abnormal oral physiology0CCN2 CL E G H14902500ORPHA:220393Diffuse cutaneous systemic sclerosis
HP:0031815HP:0031815Abnormal oral physiology0CCNF CL E G H8991591ORPHA:803Amyotrophic lateral sclerosis
HP:0031815HP:0031815Abnormal oral physiology0CCR6 CL E G H12351607ORPHA:220393Diffuse cutaneous systemic sclerosis
HP:0031815HP:0031815Abnormal oral physiology0CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34
HP:0031815HP:0031815Abnormal oral physiology0CFAP410 CL E G H7551260ORPHA:803Amyotrophic lateral sclerosis
HP:0031815HP:0031815Abnormal oral physiology0CFTR CL E G H10801884ORPHA:60033Idiopathic bronchiectasis1371
HP:0031815HP:0031815Abnormal oral physiology0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0031815HP:0031815Abnormal oral physiology0CHCHD10 CL E G H40091615559ORPHA:803Amyotrophic lateral sclerosis11
HP:0031815HP:0031815Abnormal oral physiology0CHMP2B CL E G H2597824537ORPHA:803Amyotrophic lateral sclerosis42
HP:0031815HP:0031815Abnormal oral physiology0CHRM3 CL E G H11311952OMIM:100100Prune belly syndrome4
HP:0031815HP:0031815Abnormal oral physiology0CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel74
HP:0031815HP:0031815Abnormal oral physiology0CLDN10 CL E G H90712033OMIM:617671Helix syndrome3
HP:0031815HP:0031815Abnormal oral physiology0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0031815HP:0031815Abnormal oral physiology0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromes90
HP:0031815HP:0031815Abnormal oral physiology0COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0031815HP:0031815Abnormal oral physiology0COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0031815HP:0031815Abnormal oral physiology0DAO CL E G H16102671ORPHA:803Amyotrophic lateral sclerosis
HP:0031815HP:0031815Abnormal oral physiology0DCTN1 CL E G H16392711ORPHA:803Amyotrophic lateral sclerosis86
HP:0031815HP:0031815Abnormal oral physiology0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndrome33
HP:0031815HP:0031815Abnormal oral physiology0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency82
HP:0031815HP:0031815Abnormal oral physiology0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0031815HP:0031815Abnormal oral physiology0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0031815HP:0031815Abnormal oral physiology0EDA CL E G H18963157ORPHA:99798Oligodontia115
HP:0031815HP:0031815Abnormal oral physiology0EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive56
HP:0031815HP:0031815Abnormal oral physiology0EDARADD CL E G H12817814341ORPHA:99798Oligodontia56
HP:0031815HP:0031815Abnormal oral physiology0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0031815HP:0031815Abnormal oral physiology0ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0031815HP:0031815Abnormal oral physiology0EPHA4 CL E G H20433388ORPHA:803Amyotrophic lateral sclerosis4
HP:0031815HP:0031815Abnormal oral physiology0ERBB4 CL E G H20663432ORPHA:803Amyotrophic lateral sclerosis15
HP:0031815HP:0031815Abnormal oral physiology0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0031815HP:0031815Abnormal oral physiology0F10 CL E G H21593528ORPHA:328Congenital factor X deficiency33
HP:0031815HP:0031815Abnormal oral physiology0F13A1 CL E G H21623531ORPHA:331Congenital factor XIII deficiency60
HP:0031815HP:0031815Abnormal oral physiology0F13B CL E G H21653534ORPHA:331Congenital factor XIII deficiency32
HP:0031815HP:0031815Abnormal oral physiology0F2 CL E G H21473535ORPHA:325Congenital factor II deficiency44
HP:0031815HP:0031815Abnormal oral physiology0F5 CL E G H21533542ORPHA:326Congenital factor V deficiency159
HP:0031815HP:0031815Abnormal oral physiology0F8 CL E G H21573546ORPHA:169802Severe hemophilia A303
HP:0031815HP:0031815Abnormal oral physiology0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0031815HP:0031815Abnormal oral physiology0FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome12
HP:0031815HP:0031815Abnormal oral physiology0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0031815HP:0031815Abnormal oral physiology0FGF10 CL E G H22553666OMIM:180920Aplasia of lacrimal and salivary glands17
HP:0031815HP:0031815Abnormal oral physiology0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0031815HP:0031815Abnormal oral physiology0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:0031815HP:0031815Abnormal oral physiology0FGFR1 CL E G H22603688ORPHA:99798Oligodontia172
HP:0031815HP:0031815Abnormal oral physiology0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0031815HP:0031815Abnormal oral physiology0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:0031815HP:0031815Abnormal oral physiology0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0031815HP:0031815Abnormal oral physiology0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:0031815HP:0031815Abnormal oral physiology0FIG4 CL E G H989616873ORPHA:803Amyotrophic lateral sclerosis111
HP:0031815HP:0031815Abnormal oral physiology0FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemia4
HP:0031815HP:0031815Abnormal oral physiology0FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletion177
HP:0031815HP:0031815Abnormal oral physiology0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0031815HP:0031815Abnormal oral physiology0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0031815HP:0031815Abnormal oral physiology0FOXP2 CL E G H9398613875ORPHA:209908Childhood apraxia of speech143
HP:0031815HP:0031815Abnormal oral physiology0FUS CL E G H25214010ORPHA:803Amyotrophic lateral sclerosis105
HP:0031815HP:0031815Abnormal oral physiology0GABBR2 CL E G H95684507OMIM:617904Epileptic encephalopathy, early infantile, 595
HP:0031815HP:0031815Abnormal oral physiology0GABRA1 CL E G H25544075ORPHA:33069Dravet syndrome134
HP:0031815HP:0031815Abnormal oral physiology0GABRG2 CL E G H25664087ORPHA:33069Dravet syndrome139
HP:0031815HP:0031815Abnormal oral physiology0GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsy139
HP:0031815HP:0031815Abnormal oral physiology0GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B86
HP:0031815HP:0031815Abnormal oral physiology0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0031815HP:0031815Abnormal oral physiology0GFM2 CL E G H8434029682OMIM:618397Combined oxidative phosphorylation deficiency 3943
HP:0031815HP:0031815Abnormal oral physiology0GLE1 CL E G H27334315ORPHA:803Amyotrophic lateral sclerosis45
HP:0031815HP:0031815Abnormal oral physiology0GLT8D1 CL E G H5583024870ORPHA:803Amyotrophic lateral sclerosis
HP:0031815HP:0031815Abnormal oral physiology0GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 12
HP:0031815HP:0031815Abnormal oral physiology0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0031815HP:0031815Abnormal oral physiology0GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 494
HP:0031815HP:0031815Abnormal oral physiology0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome4
HP:0031815HP:0031815Abnormal oral physiology0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0031815HP:0031815Abnormal oral physiology0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyria108
HP:0031815HP:0031815Abnormal oral physiology0GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsy434
HP:0031815HP:0031815Abnormal oral physiology0GRIN2A CL E G H29034585ORPHA:163721Rolandic epilepsy-speech dyspraxia syndrome434
HP:0031815HP:0031815Abnormal oral physiology0GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0031815HP:0031815Abnormal oral physiology0H4C5 CL E G H83674790OMIM:619950
HP:0031815HP:0031815Abnormal oral physiology0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0031815HP:0031815Abnormal oral physiology0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0031815HP:0031815Abnormal oral physiology0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndrome16
HP:0031815HP:0031815Abnormal oral physiology0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0031815HP:0031815Abnormal oral physiology0HLA-B CL E G H31064932ORPHA:397Giant cell arteritis4
HP:0031815HP:0031815Abnormal oral physiology0HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndrome4
HP:0031815HP:0031815Abnormal oral physiology0HLA-DRB1 CL E G H31234948ORPHA:220393Diffuse cutaneous systemic sclerosis2
HP:0031815HP:0031815Abnormal oral physiology0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritis2
HP:0031815HP:0031815Abnormal oral physiology0HNRNPA1 CL E G H31785031ORPHA:803Amyotrophic lateral sclerosis31
HP:0031815HP:0031815Abnormal oral physiology0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0031815HP:0031815Abnormal oral physiology0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 32
HP:0031815HP:0031815Abnormal oral physiology0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0031815HP:0031815Abnormal oral physiology0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated form86
HP:0031815HP:0031815Abnormal oral physiology0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe form86
HP:0031815HP:0031815Abnormal oral physiology0IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndrome8
HP:0031815HP:0031815Abnormal oral physiology0IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemia4
HP:0031815HP:0031815Abnormal oral physiology0IRF5 CL E G H36636120ORPHA:220393Diffuse cutaneous systemic sclerosis4
HP:0031815HP:0031815Abnormal oral physiology0IRF6 CL E G H36646121ORPHA:141291Cleft lip and alveolus99
HP:0031815HP:0031815Abnormal oral physiology0IRF6 CL E G H36646121ORPHA:99798Oligodontia99
HP:0031815HP:0031815Abnormal oral physiology0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathy127
HP:0031815HP:0031815Abnormal oral physiology0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0031815HP:0031815Abnormal oral physiology0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0031815HP:0031815Abnormal oral physiology0KCNC2 CL E G H37476234OMIM:619913
HP:0031815HP:0031815Abnormal oral physiology0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0031815HP:0031815Abnormal oral physiology0KIF23 CL E G H94936392ORPHA:98870Congenital dyserythropoietic anemia type III1
HP:0031815HP:0031815Abnormal oral physiology0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0031815HP:0031815Abnormal oral physiology0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophy411
HP:0031815HP:0031815Abnormal oral physiology0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromes92
HP:0031815HP:0031815Abnormal oral physiology0LBR CL E G H39306518ORPHA:779Reynolds syndrome70
HP:0031815HP:0031815Abnormal oral physiology0LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0031815HP:0031815Abnormal oral physiology0LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0031815HP:0031815Abnormal oral physiology0LRP6 CL E G H40406698ORPHA:99798Oligodontia26
HP:0031815HP:0031815Abnormal oral physiology0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0031815HP:0031815Abnormal oral physiology0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0031815HP:0031815Abnormal oral physiology0MAT1A CL E G H41436903OMIM:250850METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY82
HP:0031815HP:0031815Abnormal oral physiology0MATR3 CL E G H97826912ORPHA:803Amyotrophic lateral sclerosis80
HP:0031815HP:0031815Abnormal oral physiology0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0031815HP:0031815Abnormal oral physiology0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0031815HP:0031815Abnormal oral physiology0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0031815HP:0031815Abnormal oral physiology0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1228
HP:0031815HP:0031815Abnormal oral physiology0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0031815HP:0031815Abnormal oral physiology0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0031815HP:0031815Abnormal oral physiology0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorder532
HP:0031815HP:0031815Abnormal oral physiology0MSX1 CL E G H44877391ORPHA:141291Cleft lip and alveolus12
HP:0031815HP:0031815Abnormal oral physiology0MSX1 CL E G H44877391ORPHA:99798Oligodontia12
HP:0031815HP:0031815Abnormal oral physiology0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7
HP:0031815HP:0031815Abnormal oral physiology0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0031815HP:0031815Abnormal oral physiology0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathy131
HP:0031815HP:0031815Abnormal oral physiology0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0031815HP:0031815Abnormal oral physiology0NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemia
HP:0031815HP:0031815Abnormal oral physiology0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay48
HP:0031815HP:0031815Abnormal oral physiology0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0031815HP:0031815Abnormal oral physiology0NECTIN1 CL E G H58189706ORPHA:141291Cleft lip and alveolus4
HP:0031815HP:0031815Abnormal oral physiology0NEFH CL E G H47447737ORPHA:803Amyotrophic lateral sclerosis24
HP:0031815HP:0031815Abnormal oral physiology0NEK1 CL E G H47507744ORPHA:803Amyotrophic lateral sclerosis101
HP:0031815HP:0031815Abnormal oral physiology0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0031815HP:0031815Abnormal oral physiology0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0031815HP:0031815Abnormal oral physiology0NOD2 CL E G H641275331ORPHA:90340Blau syndrome187
HP:0031815HP:0031815Abnormal oral physiology0NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0031815HP:0031815Abnormal oral physiology0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0031815HP:0031815Abnormal oral physiology0NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemia12
HP:0031815HP:0031815Abnormal oral physiology0NRXN1 CL E G H93788008OMIM:614325Pitt-Hopkins-Like syndrome 2470
HP:0031815HP:0031815Abnormal oral physiology0NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0031815HP:0031815Abnormal oral physiology0NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemia
HP:0031815HP:0031815Abnormal oral physiology0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion121
HP:0031815HP:0031815Abnormal oral physiology0OPTN CL E G H1013317142ORPHA:803Amyotrophic lateral sclerosis62
HP:0031815HP:0031815Abnormal oral physiology0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritis3
HP:0031815HP:0031815Abnormal oral physiology0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0031815HP:0031815Abnormal oral physiology0PAX9 CL E G H50838623ORPHA:99798Oligodontia58
HP:0031815HP:0031815Abnormal oral physiology0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndrome225
HP:0031815HP:0031815Abnormal oral physiology0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0031815HP:0031815Abnormal oral physiology0PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onset5
HP:0031815HP:0031815Abnormal oral physiology0PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvement5
HP:0031815HP:0031815Abnormal oral physiology0PFN1 CL E G H52168881ORPHA:803Amyotrophic lateral sclerosis6
HP:0031815HP:0031815Abnormal oral physiology0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyria11
HP:0031815HP:0031815Abnormal oral physiology0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophy133
HP:0031815HP:0031815Abnormal oral physiology0PML CL E G H53719113ORPHA:520Acute promyelocytic leukemia3
HP:0031815HP:0031815Abnormal oral physiology0PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathy79
HP:0031815HP:0031815Abnormal oral physiology0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism138
HP:0031815HP:0031815Abnormal oral physiology0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndrome138
HP:0031815HP:0031815Abnormal oral physiology0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism67
HP:0031815HP:0031815Abnormal oral physiology0PON1 CL E G H54449204ORPHA:803Amyotrophic lateral sclerosis4
HP:0031815HP:0031815Abnormal oral physiology0PON2 CL E G H54459205ORPHA:803Amyotrophic lateral sclerosis2
HP:0031815HP:0031815Abnormal oral physiology0PON3 CL E G H54469206ORPHA:803Amyotrophic lateral sclerosis1
HP:0031815HP:0031815Abnormal oral physiology0POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0031815HP:0031815Abnormal oral physiology0PPARGC1A CL E G H108919237ORPHA:803Amyotrophic lateral sclerosis1
HP:0031815HP:0031815Abnormal oral physiology0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome10
HP:0031815HP:0031815Abnormal oral physiology0PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemia134
HP:0031815HP:0031815Abnormal oral physiology0PRPH CL E G H56309461ORPHA:803Amyotrophic lateral sclerosis25
HP:0031815HP:0031815Abnormal oral physiology0PRPS1 CL E G H56319462OMIM:301835Arts syndrome49
HP:0031815HP:0031815Abnormal oral physiology0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritis3
HP:0031815HP:0031815Abnormal oral physiology0PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiency19
HP:0031815HP:0031815Abnormal oral physiology0PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A19
HP:0031815HP:0031815Abnormal oral physiology0PYGM CL E G H58379726ORPHA:368Glycogen storage disease due to muscle glycogen phosphorylase deficiency166
HP:0031815HP:0031815Abnormal oral physiology0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0031815HP:0031815Abnormal oral physiology0QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C43
HP:0031815HP:0031815Abnormal oral physiology0RACGAP1 CL E G H291279804ORPHA:98870Congenital dyserythropoietic anemia type III
HP:0031815HP:0031815Abnormal oral physiology0RARA CL E G H59149864ORPHA:520Acute promyelocytic leukemia2
HP:0031815HP:0031815Abnormal oral physiology0RSRC1 CL E G H5131924152OMIM:618402Intellectual developmental disorder, autosomal recessive 702
HP:0031815HP:0031815Abnormal oral physiology0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0031815HP:0031815Abnormal oral physiology0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0031815HP:0031815Abnormal oral physiology0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0031815HP:0031815Abnormal oral physiology0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variant34
HP:0031815HP:0031815Abnormal oral physiology0SCN1A CL E G H632310585ORPHA:33069Dravet syndrome1053
HP:0031815HP:0031815Abnormal oral physiology0SCN1B CL E G H632410586ORPHA:33069Dravet syndrome126
HP:0031815HP:0031815Abnormal oral physiology0SCN2A CL E G H632610588ORPHA:33069Dravet syndrome427
HP:0031815HP:0031815Abnormal oral physiology0SCN9A CL E G H633510597ORPHA:33069Dravet syndrome318
HP:0031815HP:0031815Abnormal oral physiology0SCN9A CL E G H633510597OMIM:133020Erythermalgia, primary318
HP:0031815HP:0031815Abnormal oral physiology0SCNN1A CL E G H633710599ORPHA:60033Idiopathic bronchiectasis67
HP:0031815HP:0031815Abnormal oral physiology0SCNN1B CL E G H633810600ORPHA:60033Idiopathic bronchiectasis61
HP:0031815HP:0031815Abnormal oral physiology0SCNN1G CL E G H634010602ORPHA:60033Idiopathic bronchiectasis57
HP:0031815HP:0031815Abnormal oral physiology0SELENBP1 CL E G H899110719OMIM:618148Extraoral halitosis due to MTO deficiency
HP:0031815HP:0031815Abnormal oral physiology0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathy144
HP:0031815HP:0031815Abnormal oral physiology0SERPINE1 CL E G H50548583ORPHA:465Congenital plasminogen activator inhibitor type 1 deficiency39
HP:0031815HP:0031815Abnormal oral physiology0SERPING1 CL E G H7101228ORPHA:100050Hereditary angioedema type 164
HP:0031815HP:0031815Abnormal oral physiology0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0031815HP:0031815Abnormal oral physiology0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0031815HP:0031815Abnormal oral physiology0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0031815HP:0031815Abnormal oral physiology0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndrome40
HP:0031815HP:0031815Abnormal oral physiology0SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0031815HP:0031815Abnormal oral physiology0SLC12A5 CL E G H5746813818OMIM:616645Epileptic encephalopathy, early infantile, 348
HP:0031815HP:0031815Abnormal oral physiology0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome57
HP:0031815HP:0031815Abnormal oral physiology0SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly4
HP:0031815HP:0031815Abnormal oral physiology0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0031815HP:0031815Abnormal oral physiology0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0031815HP:0031815Abnormal oral physiology0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type93
HP:0031815HP:0031815Abnormal oral physiology0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0031815HP:0031815Abnormal oral physiology0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0031815HP:0031815Abnormal oral physiology0SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0031815HP:0031815Abnormal oral physiology0SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q1337
HP:0031815HP:0031815Abnormal oral physiology0SOD1 CL E G H664711179ORPHA:803Amyotrophic lateral sclerosis53
HP:0031815HP:0031815Abnormal oral physiology0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive66
HP:0031815HP:0031815Abnormal oral physiology0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0031815HP:0031815Abnormal oral physiology0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0031815HP:0031815Abnormal oral physiology0SQSTM1 CL E G H887811280ORPHA:803Amyotrophic lateral sclerosis62
HP:0031815HP:0031815Abnormal oral physiology0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyria50
HP:0031815HP:0031815Abnormal oral physiology0SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsy50
HP:0031815HP:0031815Abnormal oral physiology0SRPX2 CL E G H2728630668ORPHA:163721Rolandic epilepsy-speech dyspraxia syndrome50
HP:0031815HP:0031815Abnormal oral physiology0STAT3 CL E G H677411364ORPHA:520Acute promyelocytic leukemia110
HP:0031815HP:0031815Abnormal oral physiology0STAT5B CL E G H677711367ORPHA:520Acute promyelocytic leukemia12
HP:0031815HP:0031815Abnormal oral physiology0STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome6
HP:0031815HP:0031815Abnormal oral physiology0SUMO1 CL E G H734112502ORPHA:99798Oligodontia8
HP:0031815HP:0031815Abnormal oral physiology0SYNGAP1 CL E G H883111497OMIM:612621Mental retardation, autosomal dominant 5108
HP:0031815HP:0031815Abnormal oral physiology0TAF15 CL E G H814811547ORPHA:803Amyotrophic lateral sclerosis
HP:0031815HP:0031815Abnormal oral physiology0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0031815HP:0031815Abnormal oral physiology0TARDBP CL E G H2343511571ORPHA:803Amyotrophic lateral sclerosis65
HP:0031815HP:0031815Abnormal oral physiology0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0031815HP:0031815Abnormal oral physiology0TBK1 CL E G H2911011584ORPHA:803Amyotrophic lateral sclerosis20
HP:0031815HP:0031815Abnormal oral physiology0TBL1XR1 CL E G H7971829529ORPHA:520Acute promyelocytic leukemia22
HP:0031815HP:0031815Abnormal oral physiology0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0031815HP:0031815Abnormal oral physiology0TGFA CL E G H703911765ORPHA:99798Oligodontia
HP:0031815HP:0031815Abnormal oral physiology0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystonia80
HP:0031815HP:0031815Abnormal oral physiology0TP63 CL E G H862615979ORPHA:141291Cleft lip and alveolus140
HP:0031815HP:0031815Abnormal oral physiology0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0031815HP:0031815Abnormal oral physiology0TP63 CL E G H862615979ORPHA:1896EEC syndrome140
HP:0031815HP:0031815Abnormal oral physiology0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathy54
HP:0031815HP:0031815Abnormal oral physiology0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathy108
HP:0031815HP:0031815Abnormal oral physiology0TREM2 CL E G H5420917761ORPHA:803Amyotrophic lateral sclerosis31
HP:0031815HP:0031815Abnormal oral physiology0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystonia2
HP:0031815HP:0031815Abnormal oral physiology0TUBB2B CL E G H34773330829OMIM:610031Cortical dysplasia, complex, with other brain malformations 739
HP:0031815HP:0031815Abnormal oral physiology0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation64
HP:0031815HP:0031815Abnormal oral physiology0UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0031815HP:0031815Abnormal oral physiology0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutation278
HP:0031815HP:0031815Abnormal oral physiology0UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13278
HP:0031815HP:0031815Abnormal oral physiology0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion278
HP:0031815HP:0031815Abnormal oral physiology0UBQLN2 CL E G H2997812509ORPHA:803Amyotrophic lateral sclerosis20
HP:0031815HP:0031815Abnormal oral physiology0UNC13A CL E G H2302523150ORPHA:803Amyotrophic lateral sclerosis1
HP:0031815HP:0031815Abnormal oral physiology0VAC14 CL E G H5569725507OMIM:617054Striatonigral degeneration, childhood-onset6
HP:0031815HP:0031815Abnormal oral physiology0VAPB CL E G H921712649ORPHA:803Amyotrophic lateral sclerosis116
HP:0031815HP:0031815Abnormal oral physiology0VCP CL E G H741512666ORPHA:803Amyotrophic lateral sclerosis63
HP:0031815HP:0031815Abnormal oral physiology0VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0031815HP:0031815Abnormal oral physiology0WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome65
HP:0031815HP:0031815Abnormal oral physiology0WNT10A CL E G H8032613829ORPHA:99798Oligodontia71
HP:0031815HP:0031815Abnormal oral physiology0WNT10B CL E G H748012775ORPHA:99798Oligodontia4
HP:0031815HP:0031815Abnormal oral physiology0ZBTB11 CL E G H2710716740OMIM:618383Intellectual developmental disorder, autosomal recessive 69
HP:0031815HP:0031815Abnormal oral physiology0ZBTB16 CL E G H770412930ORPHA:520Acute promyelocytic leukemia1
HP:0031815HP:0031815Abnormal oral physiology0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome19
HP:0031815HP:0031815Abnormal oral physiology0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0031815HP:0031815Abnormal oral physiology0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0031815HP:0032520Masseter muscular weakness1 CL E G H
HP:0031815HP:0032143Burning mouth1 CL E G H
HP:0031815HP:0005216Impaired mastication1ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional96
HP:0031815HP:0100755Abnormality of salivation1ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0031815HP:0005216Impaired mastication1ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0031815HP:0005216Impaired mastication1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040284 - Very rare
HP:0031815HP:0100755Abnormality of salivation1ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0031815HP:0005216Impaired mastication1ALS2 CL E G H57679443ORPHA:293168Infantile-onset ascending hereditary spastic paralysisHP:0040281 - Very frequent114
HP:0031815HP:0005216Impaired mastication1ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending.114
HP:0031815HP:0100755Abnormality of salivation1ANG CL E G H283483ORPHA:803Amyotrophic lateral sclerosis32
HP:0031815HP:0100755Abnormality of salivation1ANXA11 CL E G H311535ORPHA:803Amyotrophic lateral sclerosis
HP:0031815HP:0100755Abnormality of salivation1ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0031815HP:0100755Abnormality of salivation1AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegia49
HP:0031815HP:0100755Abnormality of salivation1AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegia48
HP:0031815HP:0100755Abnormality of salivation1AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive48
HP:0031815HP:0100755Abnormality of salivation1AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegia41
HP:0031815HP:0100755Abnormality of salivation1AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive41
HP:0031815HP:0100755Abnormality of salivation1AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegia18
HP:0031815HP:0100755Abnormality of salivation1ARX CL E G H17030218060OMIM:300419Mental retardation, X-linked, with or without seizures, arx-related166
HP:0031815HP:0100755Abnormality of salivation1ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q134
HP:0031815HP:0100755Abnormality of salivation1ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0031815HP:0100755Abnormality of salivation1ATP1A3 CL E G H478801OMIM:128235Dystonia 12150
HP:0031815HP:0100755Abnormality of salivation1ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonism150
HP:0031815HP:0100755Abnormality of salivation1ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0031815HP:0100755Abnormality of salivation1ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera type36
HP:0031815HP:0100755Abnormality of salivation1ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0031815HP:0100755Abnormality of salivation1ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0031815HP:0100755Abnormality of salivation1ATXN2 CL E G H631110555ORPHA:803Amyotrophic lateral sclerosis11
HP:0031815HP:0005216Impaired mastication1AXIN2 CL E G H8313904ORPHA:99798OligodontiaHP:0040281 - Very frequent435
HP:0031815HP:0030140Oral cavity bleeding1BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional101
HP:0031815HP:0100755Abnormality of salivation1BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome17
HP:0031815HP:0100755Abnormality of salivation1C9ORF72 CL E G H20322828337ORPHA:803Amyotrophic lateral sclerosis56
HP:0031815HP:0100755Abnormality of salivation1CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0031815HP:0100755Abnormality of salivation1CAV1 CL E G H8571527ORPHA:220393Diffuse cutaneous systemic sclerosis11
HP:0031815HP:0100755Abnormality of salivation1CCN2 CL E G H14902500ORPHA:220393Diffuse cutaneous systemic sclerosis
HP:0031815HP:0100755Abnormality of salivation1CCNF CL E G H8991591ORPHA:803Amyotrophic lateral sclerosis
HP:0031815HP:0100755Abnormality of salivation1CCR6 CL E G H12351607ORPHA:220393Diffuse cutaneous systemic sclerosis
HP:0031815HP:0100755Abnormality of salivation1CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34
HP:0031815HP:0100755Abnormality of salivation1CFAP410 CL E G H7551260ORPHA:803Amyotrophic lateral sclerosis
HP:0031815HP:0100812Halitosis1CFTR CL E G H10801884ORPHA:60033Idiopathic bronchiectasisHP:0040283 - Occasional1371
HP:0031815HP:0100755Abnormality of salivation1CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0031815HP:0100755Abnormality of salivation1CHCHD10 CL E G H40091615559ORPHA:803Amyotrophic lateral sclerosis11
HP:0031815HP:0100755Abnormality of salivation1CHMP2B CL E G H2597824537ORPHA:803Amyotrophic lateral sclerosis42
HP:0031815HP:0100755Abnormality of salivation1CHRM3 CL E G H11311952OMIM:100100Prune belly syndrome4
HP:0031815HP:0005216Impaired mastication1CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel74
HP:0031815HP:0100755Abnormality of salivation1CLDN10 CL E G H90712033OMIM:617671Helix syndrome3
HP:0031815HP:0100755Abnormality of salivation1CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0031815HP:0005216Impaired mastication1COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional90
HP:0031815HP:0005216Impaired mastication1COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0031815HP:0005216Impaired mastication1COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0031815HP:0100755Abnormality of salivation1DAO CL E G H16102671ORPHA:803Amyotrophic lateral sclerosis
HP:0031815HP:0100755Abnormality of salivation1DCTN1 CL E G H16392711ORPHA:803Amyotrophic lateral sclerosis86
HP:0031815HP:0100755Abnormality of salivation1DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndrome33
HP:0031815HP:0100755Abnormality of salivation1DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency82
HP:0031815HP:0100755Abnormality of salivation1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0031815HP:0100755Abnormality of salivation1DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0031815HP:0005216Impaired mastication1EDA CL E G H18963157ORPHA:99798OligodontiaHP:0040281 - Very frequent115
HP:0031815HP:0100755Abnormality of salivation1EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive56
HP:0031815HP:0005216Impaired mastication1EDARADD CL E G H12817814341ORPHA:99798OligodontiaHP:0040281 - Very frequent56
HP:0031815HP:0100755Abnormality of salivation1EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0031815HP:0100755Abnormality of salivation1ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0031815HP:0100755Abnormality of salivation1EPHA4 CL E G H20433388ORPHA:803Amyotrophic lateral sclerosis4
HP:0031815HP:0100755Abnormality of salivation1ERBB4 CL E G H20663432ORPHA:803Amyotrophic lateral sclerosis15
HP:0031815HP:0100755Abnormality of salivation1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0031815HP:0030140Oral cavity bleeding1F10 CL E G H21593528ORPHA:328Congenital factor X deficiencyHP:0040283 - Occasional33
HP:0031815HP:0030140Oral cavity bleeding1F13A1 CL E G H21623531ORPHA:331Congenital factor XIII deficiencyHP:0040282 - Frequent60
HP:0031815HP:0030140Oral cavity bleeding1F13B CL E G H21653534ORPHA:331Congenital factor XIII deficiencyHP:0040282 - Frequent32
HP:0031815HP:0030140Oral cavity bleeding1F2 CL E G H21473535ORPHA:325Congenital factor II deficiencyHP:0040283 - Occasional44
HP:0031815HP:0030140Oral cavity bleeding1F5 CL E G H21533542ORPHA:326Congenital factor V deficiencyHP:0040283 - Occasional159
HP:0031815HP:0030140Oral cavity bleeding1F8 CL E G H21573546ORPHA:169802Severe hemophilia AHP:0040282 - Frequent303
HP:0031815HP:0005216Impaired mastication1FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040283 - Occasional36
HP:0031815HP:0100755Abnormality of salivation1FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome12
HP:0031815HP:0100755Abnormality of salivation1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0031815HP:0100755Abnormality of salivation1FGF10 CL E G H22553666OMIM:180920Aplasia of lacrimal and salivary glands17
HP:0031815HP:0100755Abnormality of salivation1FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0031815HP:0100755Abnormality of salivation1FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:0031815HP:0005216Impaired mastication1FGFR1 CL E G H22603688ORPHA:99798OligodontiaHP:0040281 - Very frequent172
HP:0031815HP:0100755Abnormality of salivation1FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0031815HP:0100755Abnormality of salivation1FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:0031815HP:0100755Abnormality of salivation1FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:0031815HP:0100755Abnormality of salivation1FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0031815HP:0100755Abnormality of salivation1FIG4 CL E G H989616873ORPHA:803Amyotrophic lateral sclerosis111
HP:0031815HP:0030140Oral cavity bleeding1FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional4
HP:0031815HP:0100755Abnormality of salivation1FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletion177
HP:0031815HP:0100755Abnormality of salivation1FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0031815HP:0100755Abnormality of salivation1FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0031815HP:0100755Abnormality of salivation1FOXP2 CL E G H9398613875ORPHA:209908Childhood apraxia of speech143
HP:0031815HP:0100755Abnormality of salivation1FUS CL E G H25214010ORPHA:803Amyotrophic lateral sclerosis105
HP:0031815HP:0100755Abnormality of salivation1GABBR2 CL E G H95684507OMIM:617904Epileptic encephalopathy, early infantile, 595
HP:0031815HP:0100755Abnormality of salivation1GABRA1 CL E G H25544075ORPHA:33069Dravet syndrome134
HP:0031815HP:0100755Abnormality of salivation1GABRG2 CL E G H25664087ORPHA:33069Dravet syndrome139
HP:0031815HP:0100755Abnormality of salivation1GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsy139
HP:0031815HP:0100755Abnormality of salivation1GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B86
HP:0031815HP:0100755Abnormality of salivation1GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0031815HP:0100755Abnormality of salivation1GFM2 CL E G H8434029682OMIM:618397Combined oxidative phosphorylation deficiency 3943
HP:0031815HP:0100755Abnormality of salivation1GLE1 CL E G H27334315ORPHA:803Amyotrophic lateral sclerosis45
HP:0031815HP:0100755Abnormality of salivation1GLT8D1 CL E G H5583024870ORPHA:803Amyotrophic lateral sclerosis
HP:0031815HP:0005216Impaired mastication1GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 1.2
HP:0031815HP:0100755Abnormality of salivation1GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0031815HP:0100755Abnormality of salivation1GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 494
HP:0031815HP:0100755Abnormality of salivation1GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome4
HP:0031815HP:0100755Abnormality of salivation1GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0031815HP:0005216Impaired mastication1GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0031815HP:0100755Abnormality of salivation1GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsy434
HP:0031815HP:0100755Abnormality of salivation1GRIN2A CL E G H29034585ORPHA:163721Rolandic epilepsy-speech dyspraxia syndrome434
HP:0031815HP:0100755Abnormality of salivation1GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0031815HP:0005216Impaired mastication1H4C5 CL E G H83674790OMIM:619950
HP:0031815HP:0005216Impaired mastication1HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0031815HP:0100755Abnormality of salivation1HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0031815HP:0100755Abnormality of salivation1HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndrome16
HP:0031815HP:0100755Abnormality of salivation1HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0031815HP:0005216Impaired mastication1HLA-B CL E G H31064932ORPHA:397Giant cell arteritisHP:0040281 - Very frequent4
HP:0031815HP:0100755Abnormality of salivation1HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndrome4
HP:0031815HP:0100755Abnormality of salivation1HLA-DRB1 CL E G H31234948ORPHA:220393Diffuse cutaneous systemic sclerosis2
HP:0031815HP:0005216Impaired mastication1HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritisHP:0040281 - Very frequent2
HP:0031815HP:0100755Abnormality of salivation1HNRNPA1 CL E G H31785031ORPHA:803Amyotrophic lateral sclerosis31
HP:0031815HP:0100755Abnormality of salivation1HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0031815HP:0005216Impaired mastication1HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 32
HP:0031815HP:0100755Abnormality of salivation1HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0031815HP:0005216Impaired mastication1IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040283 - Occasional86
HP:0031815HP:0005216Impaired mastication1IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040283 - Occasional86
HP:0031815HP:0100755Abnormality of salivation1IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndrome8
HP:0031815HP:0030140Oral cavity bleeding1IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional4
HP:0031815HP:0100755Abnormality of salivation1IRF5 CL E G H36636120ORPHA:220393Diffuse cutaneous systemic sclerosis4
HP:0031815HP:0005216Impaired mastication1IRF6 CL E G H36646121ORPHA:141291Cleft lip and alveolusHP:0040282 - Frequent99
HP:0031815HP:0005216Impaired mastication1IRF6 CL E G H36646121ORPHA:99798OligodontiaHP:0040281 - Very frequent99
HP:0031815HP:0005216Impaired mastication1ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional127
HP:0031815HP:0005216Impaired mastication1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0031815HP:0005216Impaired mastication1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0031815HP:0100755Abnormality of salivation1KCNC2 CL E G H37476234OMIM:619913
HP:0031815HP:0100755Abnormality of salivation1KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0031815HP:0030140Oral cavity bleeding1KIF23 CL E G H94936392ORPHA:98870Congenital dyserythropoietic anemia type IIIHP:0040283 - Occasional1
HP:0031815HP:0100755Abnormality of salivation1KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0031815HP:0005216Impaired mastication1LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040282 - Frequent411
HP:0031815HP:0005216Impaired mastication1LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional92
HP:0031815HP:0100755Abnormality of salivation1LBR CL E G H39306518ORPHA:779Reynolds syndrome70
HP:0031815HP:0100755Abnormality of salivation1LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0031815HP:0005216Impaired mastication1LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0031815HP:0005216Impaired mastication1LRP6 CL E G H40406698ORPHA:99798OligodontiaHP:0040281 - Very frequent26
HP:0031815HP:0100755Abnormality of salivation1MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0031815HP:0005216Impaired mastication1MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0031815HP:0100812Halitosis1MAT1A CL E G H41436903OMIM:250850METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY.82
HP:0031815HP:0100755Abnormality of salivation1MATR3 CL E G H97826912ORPHA:803Amyotrophic lateral sclerosis80
HP:0031815HP:0100755Abnormality of salivation1MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0031815HP:0100755Abnormality of salivation1MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0031815HP:0100755Abnormality of salivation1MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0031815HP:0100755Abnormality of salivation1MED12 CL E G H996811957ORPHA:93932FG syndrome type 1228
HP:0031815HP:0100755Abnormality of salivation1MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0031815HP:0100755Abnormality of salivation1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0031815HP:0100755Abnormality of salivation1MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorder532
HP:0031815HP:0005216Impaired mastication1MSX1 CL E G H44877391ORPHA:141291Cleft lip and alveolusHP:0040282 - Frequent12
HP:0031815HP:0005216Impaired mastication1MSX1 CL E G H44877391ORPHA:99798OligodontiaHP:0040281 - Very frequent12
HP:0031815HP:0005216Impaired mastication1MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0031815HP:0005216Impaired mastication1MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0031815HP:0005216Impaired mastication1MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional131
HP:0031815HP:0005216Impaired mastication1NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0031815HP:0100755Abnormality of salivation1NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0031815HP:0030140Oral cavity bleeding1NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional
HP:0031815HP:0100755Abnormality of salivation1NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay48
HP:0031815HP:0100755Abnormality of salivation1NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0031815HP:0005216Impaired mastication1NECTIN1 CL E G H58189706ORPHA:141291Cleft lip and alveolusHP:0040282 - Frequent4
HP:0031815HP:0100755Abnormality of salivation1NEFH CL E G H47447737ORPHA:803Amyotrophic lateral sclerosis24
HP:0031815HP:0100755Abnormality of salivation1NEK1 CL E G H47507744ORPHA:803Amyotrophic lateral sclerosis101
HP:0031815HP:0100755Abnormality of salivation1NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0031815HP:0100755Abnormality of salivation1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0031815HP:0100755Abnormality of salivation1NOD2 CL E G H641275331ORPHA:90340Blau syndrome187
HP:0031815HP:0100755Abnormality of salivation1NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0031815HP:0100755Abnormality of salivation1NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0031815HP:0030140Oral cavity bleeding1NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional12
HP:0031815HP:0100755Abnormality of salivation1NRXN1 CL E G H93788008OMIM:614325Pitt-Hopkins-Like syndrome 2470
HP:0031815HP:0100755Abnormality of salivation1NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0031815HP:0030140Oral cavity bleeding1NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional
HP:0031815HP:0100755Abnormality of salivation1OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion121
HP:0031815HP:0100755Abnormality of salivation1OPTN CL E G H1013317142ORPHA:803Amyotrophic lateral sclerosis62
HP:0031815HP:0005216Impaired mastication1P4HA2 CL E G H89748547ORPHA:397Giant cell arteritisHP:0040281 - Very frequent3
HP:0031815HP:0100755Abnormality of salivation1PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0031815HP:0005216Impaired mastication1PAX9 CL E G H50838623ORPHA:99798OligodontiaHP:0040281 - Very frequent58
HP:0031815HP:0100755Abnormality of salivation1PCDH19 CL E G H5752614270ORPHA:33069Dravet syndrome225
HP:0031815HP:0100755Abnormality of salivation1PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0031815HP:0100755Abnormality of salivation1PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onset5
HP:0031815HP:0100755Abnormality of salivation1PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvement5
HP:0031815HP:0100755Abnormality of salivation1PFN1 CL E G H52168881ORPHA:803Amyotrophic lateral sclerosis6
HP:0031815HP:0100755Abnormality of salivation1PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyria11
HP:0031815HP:0100755Abnormality of salivation1PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophy133
HP:0031815HP:0030140Oral cavity bleeding1PML CL E G H53719113ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional3
HP:0031815HP:0100755Abnormality of salivation1PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathy79
HP:0031815HP:0100755Abnormality of salivation1POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism138
HP:0031815HP:0100755Abnormality of salivation1POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndrome138
HP:0031815HP:0100755Abnormality of salivation1POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism67
HP:0031815HP:0100755Abnormality of salivation1PON1 CL E G H54449204ORPHA:803Amyotrophic lateral sclerosis4
HP:0031815HP:0100755Abnormality of salivation1PON2 CL E G H54459205ORPHA:803Amyotrophic lateral sclerosis2
HP:0031815HP:0100755Abnormality of salivation1PON3 CL E G H54469206ORPHA:803Amyotrophic lateral sclerosis1
HP:0031815HP:0100755Abnormality of salivation1POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0031815HP:0100755Abnormality of salivation1PPARGC1A CL E G H108919237ORPHA:803Amyotrophic lateral sclerosis1
HP:0031815HP:0005216Impaired mastication1PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040284 - Very rare10
HP:0031815HP:0030140Oral cavity bleeding1PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional134
HP:0031815HP:0100755Abnormality of salivation1PRPH CL E G H56309461ORPHA:803Amyotrophic lateral sclerosis25
HP:0031815HP:0100755Abnormality of salivation1PRPS1 CL E G H56319462OMIM:301835Arts syndrome49
HP:0031815HP:0005216Impaired mastication1PTPN22 CL E G H261919652ORPHA:397Giant cell arteritisHP:0040281 - Very frequent3
HP:0031815HP:0100755Abnormality of salivation1PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiency19
HP:0031815HP:0100755Abnormality of salivation1PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A19
HP:0031815HP:0005216Impaired mastication1PYGM CL E G H58379726ORPHA:368Glycogen storage disease due to muscle glycogen phosphorylase deficiencyHP:0040284 - Very rare166
HP:0031815HP:0005216Impaired mastication1PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0031815HP:0100755Abnormality of salivation1QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C43
HP:0031815HP:0030140Oral cavity bleeding1RACGAP1 CL E G H291279804ORPHA:98870Congenital dyserythropoietic anemia type IIIHP:0040283 - Occasional
HP:0031815HP:0030140Oral cavity bleeding1RARA CL E G H59149864ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional2
HP:0031815HP:0100755Abnormality of salivation1RSRC1 CL E G H5131924152OMIM:618402Intellectual developmental disorder, autosomal recessive 702
HP:0031815HP:0100755Abnormality of salivation1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0031815HP:0100755Abnormality of salivation1SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0031815HP:0100755Abnormality of salivation1SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0031815HP:0100755Abnormality of salivation1SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variant34
HP:0031815HP:0100755Abnormality of salivation1SCN1A CL E G H632310585ORPHA:33069Dravet syndrome1053
HP:0031815HP:0100755Abnormality of salivation1SCN1B CL E G H632410586ORPHA:33069Dravet syndrome126
HP:0031815HP:0100755Abnormality of salivation1SCN2A CL E G H632610588ORPHA:33069Dravet syndrome427
HP:0031815HP:0100755Abnormality of salivation1SCN9A CL E G H633510597ORPHA:33069Dravet syndrome318
HP:0031815HP:0100755Abnormality of salivation1SCN9A CL E G H633510597OMIM:133020Erythermalgia, primary318
HP:0031815HP:0100812Halitosis1SCNN1A CL E G H633710599ORPHA:60033Idiopathic bronchiectasisHP:0040283 - Occasional67
HP:0031815HP:0100812Halitosis1SCNN1B CL E G H633810600ORPHA:60033Idiopathic bronchiectasisHP:0040283 - Occasional61
HP:0031815HP:0100812Halitosis1SCNN1G CL E G H634010602ORPHA:60033Idiopathic bronchiectasisHP:0040283 - Occasional57
HP:0031815HP:0100812Halitosis1SELENBP1 CL E G H899110719OMIM:618148Extraoral halitosis due to MTO deficiency.
HP:0031815HP:0005216Impaired mastication1SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional144
HP:0031815HP:0040184Oral bleeding1SERPINE1 CL E G H50548583ORPHA:465Congenital plasminogen activator inhibitor type 1 deficiencyHP:0040283 - Occasional39
HP:0031815HP:0100755Abnormality of salivation1SERPING1 CL E G H7101228ORPHA:100050Hereditary angioedema type 1HP:0040282 - Frequent64
HP:0031815HP:0100755Abnormality of salivation1SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0031815HP:0100755Abnormality of salivation1SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0031815HP:0100755Abnormality of salivation1SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0031815HP:0100755Abnormality of salivation1SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndrome40
HP:0031815HP:0100755Abnormality of salivation1SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0031815HP:0100755Abnormality of salivation1SLC12A5 CL E G H5746813818OMIM:616645Epileptic encephalopathy, early infantile, 348
HP:0031815HP:0100755Abnormality of salivation1SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome57
HP:0031815HP:0100755Abnormality of salivation1SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly4
HP:0031815HP:0100755Abnormality of salivation1SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0031815HP:0005216Impaired mastication1SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0031815HP:0100755Abnormality of salivation1SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type93
HP:0031815HP:0100755Abnormality of salivation1SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0031815HP:0100755Abnormality of salivation1SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0031815HP:0100755Abnormality of salivation1SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0031815HP:0100755Abnormality of salivation1SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q1337
HP:0031815HP:0100755Abnormality of salivation1SOD1 CL E G H664711179ORPHA:803Amyotrophic lateral sclerosis53
HP:0031815HP:0100755Abnormality of salivation1SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive66
HP:0031815HP:0100755Abnormality of salivation1SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0031815HP:0100755Abnormality of salivation1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0031815HP:0100755Abnormality of salivation1SQSTM1 CL E G H887811280ORPHA:803Amyotrophic lateral sclerosis62
HP:0031815HP:0100755Abnormality of salivation1SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyria50
HP:0031815HP:0100755Abnormality of salivation1SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsy50
HP:0031815HP:0100755Abnormality of salivation1SRPX2 CL E G H2728630668ORPHA:163721Rolandic epilepsy-speech dyspraxia syndrome50
HP:0031815HP:0030140Oral cavity bleeding1STAT3 CL E G H677411364ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional110
HP:0031815HP:0030140Oral cavity bleeding1STAT5B CL E G H677711367ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional12
HP:0031815HP:0100755Abnormality of salivation1STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome6
HP:0031815HP:0005216Impaired mastication1SUMO1 CL E G H734112502ORPHA:99798OligodontiaHP:0040281 - Very frequent8
HP:0031815HP:0100755Abnormality of salivation1SYNGAP1 CL E G H883111497OMIM:612621Mental retardation, autosomal dominant 5108
HP:0031815HP:0100755Abnormality of salivation1TAF15 CL E G H814811547ORPHA:803Amyotrophic lateral sclerosis
HP:0031815HP:0100755Abnormality of salivation1TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0031815HP:0100755Abnormality of salivation1TARDBP CL E G H2343511571ORPHA:803Amyotrophic lateral sclerosis65
HP:0031815HP:0100755Abnormality of salivation1TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0031815HP:0100755Abnormality of salivation1TBK1 CL E G H2911011584ORPHA:803Amyotrophic lateral sclerosis20
HP:0031815HP:0030140Oral cavity bleeding1TBL1XR1 CL E G H7971829529ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional22
HP:0031815HP:0100755Abnormality of salivation1TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0031815HP:0005216Impaired mastication1TGFA CL E G H703911765ORPHA:99798OligodontiaHP:0040281 - Very frequent
HP:0031815HP:0100755Abnormality of salivation1TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystonia80
HP:0031815HP:0005216Impaired mastication1TP63 CL E G H862615979ORPHA:141291Cleft lip and alveolusHP:0040282 - Frequent140
HP:0031815HP:0100755Abnormality of salivation1TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0031815HP:0100755Abnormality of salivation1TP63 CL E G H862615979ORPHA:1896EEC syndrome140
HP:0031815HP:0005216Impaired mastication1TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional54
HP:0031815HP:0005216Impaired mastication1TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional108
HP:0031815HP:0100755Abnormality of salivation1TREM2 CL E G H5420917761ORPHA:803Amyotrophic lateral sclerosis31
HP:0031815HP:0100755Abnormality of salivation1TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystonia2
HP:0031815HP:0100755Abnormality of salivation1TUBB2B CL E G H34773330829OMIM:610031Cortical dysplasia, complex, with other brain malformations 739
HP:0031815HP:0005216Impaired mastication1TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64
HP:0031815HP:0100755Abnormality of salivation1UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0031815HP:0100755Abnormality of salivation1UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutation278
HP:0031815HP:0100755Abnormality of salivation1UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13278
HP:0031815HP:0100755Abnormality of salivation1UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion278
HP:0031815HP:0100755Abnormality of salivation1UBQLN2 CL E G H2997812509ORPHA:803Amyotrophic lateral sclerosis20
HP:0031815HP:0100755Abnormality of salivation1UNC13A CL E G H2302523150ORPHA:803Amyotrophic lateral sclerosis1
HP:0031815HP:0100755Abnormality of salivation1VAC14 CL E G H5569725507OMIM:617054Striatonigral degeneration, childhood-onset6
HP:0031815HP:0100755Abnormality of salivation1VAPB CL E G H921712649ORPHA:803Amyotrophic lateral sclerosis116
HP:0031815HP:0100755Abnormality of salivation1VCP CL E G H741512666ORPHA:803Amyotrophic lateral sclerosis63
HP:0031815HP:0100755Abnormality of salivation1VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0031815HP:0040184Oral bleeding1WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome.65
HP:0031815HP:0005216Impaired mastication1WNT10A CL E G H8032613829ORPHA:99798OligodontiaHP:0040281 - Very frequent71
HP:0031815HP:0005216Impaired mastication1WNT10B CL E G H748012775ORPHA:99798OligodontiaHP:0040281 - Very frequent4
HP:0031815HP:0100755Abnormality of salivation1ZBTB11 CL E G H2710716740OMIM:618383Intellectual developmental disorder, autosomal recessive 69
HP:0031815HP:0030140Oral cavity bleeding1ZBTB16 CL E G H770412930ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional1
HP:0031815HP:0100755Abnormality of salivation1ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome19
HP:0031815HP:0100755Abnormality of salivation1ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0031815HP:0100755Abnormality of salivation1ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0031815HP:0032142Fetor hepaticus2 CL E G H
HP:0031815HP:0003781Excessive salivation2ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0031815HP:0003781Excessive salivation2ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0031815HP:0000217Xerostomia2ANG CL E G H283483ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent32
HP:0031815HP:0000217Xerostomia2ANXA11 CL E G H311535ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0031815HP:0003781Excessive salivation2ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0031815HP:0003781Excessive salivation2AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegia49
HP:0031815HP:0003781Excessive salivation2AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegia48
HP:0031815HP:0003781Excessive salivation2AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive48
HP:0031815HP:0003781Excessive salivation2AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegia41
HP:0031815HP:0003781Excessive salivation2AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive41
HP:0031815HP:0003781Excessive salivation2AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegia18
HP:0031815HP:0003781Excessive salivation2ARX CL E G H17030218060OMIM:300419Mental retardation, X-linked, with or without seizures, arx-related166
HP:0031815HP:0003781Excessive salivation2ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q134
HP:0031815HP:0003781Excessive salivation2ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0031815HP:0003781Excessive salivation2ATP1A3 CL E G H478801OMIM:128235Dystonia 12150
HP:0031815HP:0003781Excessive salivation2ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonism150
HP:0031815HP:0003781Excessive salivation2ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0031815HP:0003781Excessive salivation2ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera type36
HP:0031815HP:0003781Excessive salivation2ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0031815HP:0003781Excessive salivation2ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0031815HP:0000217Xerostomia2ATXN2 CL E G H631110555ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent11
HP:0031815HP:0003781Excessive salivation2BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome17
HP:0031815HP:0000217Xerostomia2C9ORF72 CL E G H20322828337ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent56
HP:0031815HP:0003781Excessive salivation2CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0031815HP:0000217Xerostomia2CAV1 CL E G H8571527ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040282 - Frequent11
HP:0031815HP:0000217Xerostomia2CCN2 CL E G H14902500ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040282 - Frequent
HP:0031815HP:0000217Xerostomia2CCNF CL E G H8991591ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0031815HP:0000217Xerostomia2CCR6 CL E G H12351607ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040282 - Frequent
HP:0031815HP:0003781Excessive salivation2CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34
HP:0031815HP:0000217Xerostomia2CFAP410 CL E G H7551260ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0031815HP:0003781Excessive salivation2CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0031815HP:0000217Xerostomia2CHCHD10 CL E G H40091615559ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent11
HP:0031815HP:0000217Xerostomia2CHMP2B CL E G H2597824537ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent42
HP:0031815HP:0000217Xerostomia2CHRM3 CL E G H11311952OMIM:100100Prune belly syndrome.4
HP:0031815HP:0000217Xerostomia2CLDN10 CL E G H90712033OMIM:617671Helix syndrome3
HP:0031815HP:0003781Excessive salivation2CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0031815HP:0000217Xerostomia2DAO CL E G H16102671ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0031815HP:0000217Xerostomia2DCTN1 CL E G H16392711ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent86
HP:0031815HP:0003781Excessive salivation2DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndrome33
HP:0031815HP:0003781Excessive salivation2DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency82
HP:0031815HP:0003781Excessive salivation2DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0031815HP:0003781Excessive salivation2DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0031815HP:0000217Xerostomia2EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0031815HP:0003781Excessive salivation2EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0031815HP:0000217Xerostomia2ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0031815HP:0000217Xerostomia2EPHA4 CL E G H20433388ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent4
HP:0031815HP:0000217Xerostomia2ERBB4 CL E G H20663432ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent15
HP:0031815HP:0003781Excessive salivation2EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0031815HP:0003781Excessive salivation2FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome12
HP:0031815HP:0003781Excessive salivation2FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0031815HP:0000217Xerostomia2FGF10 CL E G H22553666OMIM:180920Aplasia of lacrimal and salivary glands.17
HP:0031815HP:0000217Xerostomia2FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0031815HP:0000217Xerostomia2FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent17
HP:0031815HP:0000217Xerostomia2FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent175
HP:0031815HP:0000217Xerostomia2FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0031815HP:0000217Xerostomia2FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent145
HP:0031815HP:0000217Xerostomia2FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0031815HP:0000217Xerostomia2FIG4 CL E G H989616873ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent111
HP:0031815HP:0003781Excessive salivation2FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletionHP:0040282 - Frequent177
HP:0031815HP:0003781Excessive salivation2FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0031815HP:0003781Excessive salivation2FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0031815HP:0003781Excessive salivation2FOXP2 CL E G H9398613875ORPHA:209908Childhood apraxia of speech143
HP:0031815HP:0000217Xerostomia2FUS CL E G H25214010ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent105
HP:0031815HP:0003781Excessive salivation2GABBR2 CL E G H95684507OMIM:617904Epileptic encephalopathy, early infantile, 595
HP:0031815HP:0003781Excessive salivation2GABRA1 CL E G H25544075ORPHA:33069Dravet syndrome134
HP:0031815HP:0003781Excessive salivation2GABRG2 CL E G H25664087ORPHA:33069Dravet syndrome139
HP:0031815HP:0003781Excessive salivation2GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsy139
HP:0031815HP:0003781Excessive salivation2GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B.86
HP:0031815HP:0003781Excessive salivation2GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0031815HP:0003781Excessive salivation2GFM2 CL E G H8434029682OMIM:618397Combined oxidative phosphorylation deficiency 3943
HP:0031815HP:0000217Xerostomia2GLE1 CL E G H27334315ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent45
HP:0031815HP:0000217Xerostomia2GLT8D1 CL E G H5583024870ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0031815HP:0003781Excessive salivation2GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0031815HP:0003781Excessive salivation2GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 494
HP:0031815HP:0003781Excessive salivation2GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome4
HP:0031815HP:0003781Excessive salivation2GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0031815HP:0003781Excessive salivation2GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsy434
HP:0031815HP:0003781Excessive salivation2GRIN2A CL E G H29034585ORPHA:163721Rolandic epilepsy-speech dyspraxia syndrome434
HP:0031815HP:0000217Xerostomia2GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040282 - Frequent53
HP:0031815HP:0003781Excessive salivation2HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0031815HP:0003781Excessive salivation2HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndrome16
HP:0031815HP:0003781Excessive salivation2HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0031815HP:0003781Excessive salivation2HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndromeHP:0040282 - Frequent4
HP:0031815HP:0000217Xerostomia2HLA-DRB1 CL E G H31234948ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040282 - Frequent2
HP:0031815HP:0000217Xerostomia2HNRNPA1 CL E G H31785031ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent31
HP:0031815HP:0003781Excessive salivation2HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0031815HP:0003781Excessive salivation2HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0031815HP:0003781Excessive salivation2IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndromeHP:0040282 - Frequent8
HP:0031815HP:0000217Xerostomia2IRF5 CL E G H36636120ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040282 - Frequent4
HP:0031815HP:0003781Excessive salivation2KCNC2 CL E G H37476234OMIM:619913
HP:0031815HP:0003781Excessive salivation2KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0031815HP:0003781Excessive salivation2KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0031815HP:0000217Xerostomia2LBR CL E G H39306518ORPHA:779Reynolds syndromeHP:0040282 - Frequent70
HP:0031815HP:0003781Excessive salivation2LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0031815HP:0000217Xerostomia2MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040283 - Occasional63
HP:0031815HP:0000217Xerostomia2MATR3 CL E G H97826912ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent80
HP:0031815HP:0003781Excessive salivation2MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0031815HP:0003781Excessive salivation2MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0031815HP:0003781Excessive salivation2MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13.950
HP:0031815HP:0003781Excessive salivation2MED12 CL E G H996811957ORPHA:93932FG syndrome type 1228
HP:0031815HP:0003781Excessive salivation2MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0031815HP:0003781Excessive salivation2MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0031815HP:0003781Excessive salivation2MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorder532
HP:0031815HP:0003781Excessive salivation2NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0031815HP:0003781Excessive salivation2NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay48
HP:0031815HP:0003781Excessive salivation2NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0031815HP:0000217Xerostomia2NEFH CL E G H47447737ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent24
HP:0031815HP:0000217Xerostomia2NEK1 CL E G H47507744ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent101
HP:0031815HP:0003781Excessive salivation2NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0031815HP:0003781Excessive salivation2NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0031815HP:0000217Xerostomia2NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040283 - Occasional187
HP:0031815HP:0000217Xerostomia2NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0031815HP:0003781Excessive salivation2NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0031815HP:0003781Excessive salivation2NRXN1 CL E G H93788008OMIM:614325Pitt-Hopkins-Like syndrome 2470
HP:0031815HP:0003781Excessive salivation2NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0031815HP:0003781Excessive salivation2OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion121
HP:0031815HP:0000217Xerostomia2OPTN CL E G H1013317142ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent62
HP:0031815HP:0003781Excessive salivation2PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0031815HP:0003781Excessive salivation2PCDH19 CL E G H5752614270ORPHA:33069Dravet syndrome225
HP:0031815HP:0003781Excessive salivation2PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0031815HP:0003781Excessive salivation2PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onset5
HP:0031815HP:0003781Excessive salivation2PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvement5
HP:0031815HP:0000217Xerostomia2PFN1 CL E G H52168881ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent6
HP:0031815HP:0003781Excessive salivation2PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyria11
HP:0031815HP:0003781Excessive salivation2PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophy133
HP:0031815HP:0003781Excessive salivation2PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathy79
HP:0031815HP:0003781Excessive salivation2POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism138
HP:0031815HP:0003781Excessive salivation2POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndrome138
HP:0031815HP:0003781Excessive salivation2POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism67
HP:0031815HP:0000217Xerostomia2PON1 CL E G H54449204ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent4
HP:0031815HP:0000217Xerostomia2PON2 CL E G H54459205ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent2
HP:0031815HP:0000217Xerostomia2PON3 CL E G H54469206ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent1
HP:0031815HP:0003781Excessive salivation2POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0031815HP:0000217Xerostomia2PPARGC1A CL E G H108919237ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent1
HP:0031815HP:0000217Xerostomia2PRPH CL E G H56309461ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent25
HP:0031815HP:0003781Excessive salivation2PRPS1 CL E G H56319462OMIM:301835Arts syndrome49
HP:0031815HP:0003781Excessive salivation2PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0031815HP:0003781Excessive salivation2PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A.19
HP:0031815HP:0003781Excessive salivation2QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C.43
HP:0031815HP:0003781Excessive salivation2RSRC1 CL E G H5131924152OMIM:618402Intellectual developmental disorder, autosomal recessive 702
HP:0031815HP:0003781Excessive salivation2RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0031815HP:0003781Excessive salivation2SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0031815HP:0003781Excessive salivation2SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0031815HP:0003781Excessive salivation2SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variant34
HP:0031815HP:0003781Excessive salivation2SCN1A CL E G H632310585ORPHA:33069Dravet syndrome1053
HP:0031815HP:0003781Excessive salivation2SCN1B CL E G H632410586ORPHA:33069Dravet syndrome126
HP:0031815HP:0003781Excessive salivation2SCN2A CL E G H632610588ORPHA:33069Dravet syndrome427
HP:0031815HP:0003781Excessive salivation2SCN9A CL E G H633510597ORPHA:33069Dravet syndrome318
HP:0031815HP:0000217Xerostomia2SCN9A CL E G H633510597OMIM:133020Erythermalgia, primary.318
HP:0031815HP:0003781Excessive salivation2SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0031815HP:0003781Excessive salivation2SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0031815HP:0003781Excessive salivation2SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0031815HP:0000217Xerostomia2SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040283 - Occasional40
HP:0031815HP:0000217Xerostomia2SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0031815HP:0003781Excessive salivation2SLC12A5 CL E G H5746813818OMIM:616645Epileptic encephalopathy, early infantile, 348
HP:0031815HP:0003781Excessive salivation2SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome57
HP:0031815HP:0003781Excessive salivation2SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly4
HP:0031815HP:0003781Excessive salivation2SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0031815HP:0003781Excessive salivation2SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type93
HP:0031815HP:0003781Excessive salivation2SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0031815HP:0003781Excessive salivation2SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0031815HP:0003781Excessive salivation2SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0031815HP:0003781Excessive salivation2SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q1337
HP:0031815HP:0000217Xerostomia2SOD1 CL E G H664711179ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent53
HP:0031815HP:0003781Excessive salivation2SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive66
HP:0031815HP:0003781Excessive salivation2SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0031815HP:0003781Excessive salivation2SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0031815HP:0000217Xerostomia2SQSTM1 CL E G H887811280ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent62
HP:0031815HP:0003781Excessive salivation2SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyria50
HP:0031815HP:0003781Excessive salivation2SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsy50
HP:0031815HP:0003781Excessive salivation2SRPX2 CL E G H2728630668ORPHA:163721Rolandic epilepsy-speech dyspraxia syndrome50
HP:0031815HP:0003781Excessive salivation2STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome6
HP:0031815HP:0003781Excessive salivation2SYNGAP1 CL E G H883111497OMIM:612621Mental retardation, autosomal dominant 5108
HP:0031815HP:0000217Xerostomia2TAF15 CL E G H814811547ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0031815HP:0003781Excessive salivation2TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0031815HP:0000217Xerostomia2TARDBP CL E G H2343511571ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent65
HP:0031815HP:0003781Excessive salivation2TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0031815HP:0000217Xerostomia2TBK1 CL E G H2911011584ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent20
HP:0031815HP:0003781Excessive salivation2TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0031815HP:0003781Excessive salivation2TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0031815HP:0000217Xerostomia2TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0031815HP:0000217Xerostomia2TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040283 - Occasional140
HP:0031815HP:0000217Xerostomia2TREM2 CL E G H5420917761ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent31
HP:0031815HP:0003781Excessive salivation2TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2
HP:0031815HP:0003781Excessive salivation2TUBB2B CL E G H34773330829OMIM:610031Cortical dysplasia, complex, with other brain malformations 739
HP:0031815HP:0003781Excessive salivation2UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0031815HP:0003781Excessive salivation2UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutation278
HP:0031815HP:0003781Excessive salivation2UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13278
HP:0031815HP:0003781Excessive salivation2UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion278
HP:0031815HP:0000217Xerostomia2UBQLN2 CL E G H2997812509ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent20
HP:0031815HP:0000217Xerostomia2UNC13A CL E G H2302523150ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent1
HP:0031815HP:0003781Excessive salivation2VAC14 CL E G H5569725507OMIM:617054Striatonigral degeneration, childhood-onset.6
HP:0031815HP:0000217Xerostomia2VAPB CL E G H921712649ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent116
HP:0031815HP:0000217Xerostomia2VCP CL E G H741512666ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent63
HP:0031815HP:0003781Excessive salivation2VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0031815HP:0003781Excessive salivation2ZBTB11 CL E G H2710716740OMIM:618383Intellectual developmental disorder, autosomal recessive 69
HP:0031815HP:0003781Excessive salivation2ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome19
HP:0031815HP:0003781Excessive salivation2ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0031815HP:0003781Excessive salivation2ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0031815HP:0002307Drooling3ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional88
HP:0031815HP:0002307Drooling3ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile.114
HP:0031815HP:0002307Drooling3ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0031815HP:0002307Drooling3AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent49
HP:0031815HP:0002307Drooling3AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent48
HP:0031815HP:0002307Drooling3AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive.48
HP:0031815HP:0002307Drooling3AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent41
HP:0031815HP:0002307Drooling3AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0031815HP:0002307Drooling3AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent18
HP:0031815HP:0002307Drooling3ARX CL E G H17030218060OMIM:300419Mental retardation, X-linked, with or without seizures, arx-related166
HP:0031815HP:0002307Drooling3ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional4
HP:0031815HP:0002307Drooling3ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0031815HP:0002307Drooling3ATP1A3 CL E G H478801OMIM:128235Dystonia 12.150
HP:0031815HP:0002307Drooling3ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonismHP:0040282 - Frequent150
HP:0031815HP:0002307Drooling3ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0031815HP:0002307Drooling3ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040283 - Occasional36
HP:0031815HP:0002307Drooling3ATP7B CL E G H540870OMIM:277900Wilson disease.315
HP:0031815HP:0002307Drooling3ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0031815HP:0002307Drooling3BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome.17
HP:0031815HP:0002307Drooling3CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0031815HP:0002307Drooling3CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34.
HP:0031815HP:0002307Drooling3CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0031815HP:0002307Drooling3CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0031815HP:0002307Drooling3DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040283 - Occasional33
HP:0031815HP:0002307Drooling3DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0031815HP:0002307Drooling3DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0031815HP:0002307Drooling3DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0031815HP:0002307Drooling3EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0031815HP:0002307Drooling3EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0031815HP:0002307Drooling3FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndromeHP:0040282 - Frequent12
HP:0031815HP:0002307Drooling3FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0031815HP:0002307Drooling3FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant.177
HP:0031815HP:0002307Drooling3FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0031815HP:0002307Drooling3FOXP2 CL E G H9398613875ORPHA:209908Childhood apraxia of speechHP:0040283 - Occasional143
HP:0031815HP:0002307Drooling3GABBR2 CL E G H95684507OMIM:617904Epileptic encephalopathy, early infantile, 59.5
HP:0031815HP:0002307Drooling3GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040283 - Occasional134
HP:0031815HP:0002307Drooling3GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040283 - Occasional139
HP:0031815HP:0002307Drooling3GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsyHP:0040282 - Frequent139
HP:0031815HP:0002307Drooling3GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040283 - Occasional43
HP:0031815HP:0002307Drooling3GFM2 CL E G H8434029682OMIM:618397Combined oxidative phosphorylation deficiency 39.43
HP:0031815HP:0002307Drooling3GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID.69
HP:0031815HP:0002307Drooling3GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 49.4
HP:0031815HP:0002307Drooling3GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeHP:0040282 - Frequent4
HP:0031815HP:0002307Drooling3GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0031815HP:0002307Drooling3GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsyHP:0040282 - Frequent434
HP:0031815HP:0002307Drooling3GRIN2A CL E G H29034585ORPHA:163721Rolandic epilepsy-speech dyspraxia syndromeHP:0040282 - Frequent434
HP:0031815HP:0002307Drooling3HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0031815HP:0002307Drooling3HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040282 - Frequent16
HP:0031815HP:0002307Drooling3HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0031815HP:0002307Drooling3HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0031815HP:0002307Drooling3HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0031815HP:0002307Drooling3KCNC2 CL E G H37476234OMIM:619913
HP:0031815HP:0002307Drooling3KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0031815HP:0002307Drooling3LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0031815HP:0002307Drooling3MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0031815HP:0002307Drooling3MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0031815HP:0002307Drooling3MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0031815HP:0002307Drooling3MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0031815HP:0002307Drooling3MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0031815HP:0002307Drooling3MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0031815HP:0002307Drooling3MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040283 - Occasional532
HP:0031815HP:0002307Drooling3NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0031815HP:0002307Drooling3NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay48
HP:0031815HP:0002307Drooling3NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0031815HP:0002307Drooling3NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0031815HP:0002307Drooling3NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0031815HP:0002307Drooling3NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0031815HP:0002307Drooling3NRXN1 CL E G H93788008OMIM:614325Pitt-Hopkins-Like syndrome 2.470
HP:0031815HP:0002307Drooling3NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0031815HP:0002307Drooling3OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0031815HP:0002307Drooling3PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0031815HP:0002307Drooling3PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040283 - Occasional225
HP:0031815HP:0002307Drooling3PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndromeHP:0040284 - Very rare
HP:0031815HP:0002307Drooling3PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onset5
HP:0031815HP:0002307Drooling3PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvementHP:0040282 - Frequent5
HP:0031815HP:0002307Drooling3PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional11
HP:0031815HP:0002307Drooling3PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040283 - Occasional133
HP:0031815HP:0002307Drooling3PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathyHP:0040282 - Frequent79
HP:0031815HP:0002307Drooling3POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.138
HP:0031815HP:0002307Drooling3POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040283 - Occasional138
HP:0031815HP:0002307Drooling3POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.67
HP:0031815HP:0002307Drooling3POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0031815HP:0002307Drooling3PRPS1 CL E G H56319462OMIM:301835Arts syndrome.49
HP:0031815HP:0002307Drooling3RSRC1 CL E G H5131924152OMIM:618402Intellectual developmental disorder, autosomal recessive 702
HP:0031815HP:0002307Drooling3RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0031815HP:0002307Drooling3SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0031815HP:0002307Drooling3SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040282 - Frequent34
HP:0031815HP:0002307Drooling3SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040282 - Frequent34
HP:0031815HP:0002307Drooling3SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040283 - Occasional1053
HP:0031815HP:0002307Drooling3SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040283 - Occasional126
HP:0031815HP:0002307Drooling3SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040283 - Occasional427
HP:0031815HP:0002307Drooling3SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040283 - Occasional318
HP:0031815HP:0002307Drooling3SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0031815HP:0002307Drooling3SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040283 - Occasional493
HP:0031815HP:0002307Drooling3SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0031815HP:0002307Drooling3SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome.57
HP:0031815HP:0002307Drooling3SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly4
HP:0031815HP:0002307Drooling3SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0031815HP:0002307Drooling3SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type93
HP:0031815HP:0002307Drooling3SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0031815HP:0002307Drooling3SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0031815HP:0002307Drooling3SNRPN CL E G H663811164OMIM:105830Angelman syndrome.37
HP:0031815HP:0002307Drooling3SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional37
HP:0031815HP:0002307Drooling3SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0031815HP:0002307Drooling3SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0031815HP:0002307Drooling3SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0031815HP:0002307Drooling3SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional50
HP:0031815HP:0002307Drooling3SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsyHP:0040282 - Frequent50
HP:0031815HP:0002307Drooling3SRPX2 CL E G H2728630668ORPHA:163721Rolandic epilepsy-speech dyspraxia syndromeHP:0040282 - Frequent50
HP:0031815HP:0002307Drooling3STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndromeHP:0040283 - Occasional6
HP:0031815HP:0002307Drooling3SYNGAP1 CL E G H883111497OMIM:612621Mental retardation, autosomal dominant 5108
HP:0031815HP:0002307Drooling3TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration.12
HP:0031815HP:0002307Drooling3TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0031815HP:0002307Drooling3TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0031815HP:0002307Drooling3TUBB2B CL E G H34773330829OMIM:610031Cortical dysplasia, complex, with other brain malformations 7.39
HP:0031815HP:0002307Drooling3UBE3A CL E G H733712496OMIM:105830Angelman syndrome.278
HP:0031815HP:0002307Drooling3UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040283 - Occasional278
HP:0031815HP:0002307Drooling3UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional278
HP:0031815HP:0002307Drooling3UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0031815HP:0002307Drooling3VAC14 CL E G H5569725507OMIM:617054Striatonigral degeneration, childhood-onset.6
HP:0031815HP:0002307Drooling3VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130
HP:0031815HP:0002307Drooling3ZBTB11 CL E G H2710716740OMIM:618383Intellectual developmental disorder, autosomal recessive 69.
HP:0031815HP:0002307Drooling3ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0031815HP:0002307Drooling3ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0031815HP:0002307Drooling3ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome.362


Genes (242) :ACTA1 ADGRG1 ADNP ADSS1 ALS2 ANG ANXA11 AP4B1 AP4E1 AP4M1 AP4S1 ARX ATP10A ATP1A3 ATP6AP2 ATP7B ATRX ATXN2 AXIN2 BCOR BCORL1 C9ORF72 CAMTA1 CAV1 CCN2 CCNF CCR6 CERT1 CFAP410 CFTR CHAMP1 CHCHD10 CHMP2B CHRM3 CHRNA1 CLDN10 CLDN11 COLQ COX1 COX3 DAO DCTN1 DEAF1 DLAT DLK1 DNM1L EDA EDARADD EIF2S3 ELOVL1 EPHA4 ERBB4 EXTL3 F10 F13A1 F13B F2 F5 F8 FARS2 FBLN1 FBXO28 FGF10 FGFR1 FGFR2 FGFR3 FIG4 FIP1L1 FOXG1 FOXP1 FOXP2 FUS GABBR2 GABRA1 GABRG2 GCH1 GFM2 GLE1 GLT8D1 GNAI3 GNS GPT2 GRIK2 GRIN1 GRIN2A GSN H4C5 HACD1 HDAC4 HERC1 HIVEP2 HLA-B HLA-DRB1 HNRNPA1 HNRNPH2 HOXB1 HPDL IDS IKZF1 IRF2BP2 IRF5 IRF6 ITGA7 KANSL1 KCNC2 KIF15 KIF23 KIF7 LAMA2 LAMB2 LBR LMNB2 LPIN1 LRP6 MAGEL2 MAP3K20 MAT1A MATR3 MBD5 MECP2 MED12 MED27 MEG3 MRE11 MSX1 MTRFR MYL2 NAA20 NABP1 NALCN NAXD NECTIN1 NEFH NEK1 NEXMIF NFIX NOD2 NONO NPM1 NRXN1 NTNG2 NUMA1 OCA2 OPTN P4HA2 PAK3 PAX9 PCDH19 PCGF2 PDE10A PFN1 PI4KA PLA2G6 PML PMP22 POLR3A POLR3B PON1 PON2 PON3 POU3F3 PPARGC1A PPP2R5D PRKAR1A PRPH PRPS1 PTPN22 PTS PYGM PYROXD1 QDPR RACGAP1 RARA RSRC1 RTL1 SATB1 SATB2 SCN1A SCN1B SCN2A SCN9A SCNN1A SCNN1B SCNN1G SELENBP1 SELENON SERPINE1 SERPING1 SETD5 SH3TC2 SHMT2 SIM1 SLC12A2 SLC12A5 SLC16A2 SLC1A4 SLC25A12 SLC39A14 SLC9A6 SMARCA2 SNRPN SOD1 SPART SPEN SPTBN1 SQSTM1 SRPX2 STAT3 STAT5B STRADA SUMO1 SYNGAP1 TAF15 TANGO2 TARDBP TASP1 TBK1 TBL1XR1 TBX1 TGFA TH TP63 TPM2 TPM3 TREM2 TSPOAP1 TUBB2B TUBB3 UBE3A UBQLN2 UNC13A VAC14 VAPB VCP VPS13A WAS WNT10A WNT10B ZBTB11 ZBTB16 ZC4H2 ZEB2

Diseases (173) :ORPHA:2020 ORPHA:98889 ORPHA:404448 ORPHA:482601 OMIM:205100 ORPHA:293168 OMIM:607225 ORPHA:803 OMIM:619733 ORPHA:280763 OMIM:613744 OMIM:612936 OMIM:300419 ORPHA:411515 OMIM:619606 OMIM:128235 ORPHA:71517 OMIM:300423 ORPHA:93952 OMIM:277900 OMIM:309580 ORPHA:99798 ORPHA:520 OMIM:301029 OMIM:614756 ORPHA:220393 OMIM:616351 ORPHA:60033 OMIM:616579 OMIM:100100 OMIM:601462 OMIM:617671 OMIM:619328 ORPHA:98915 ORPHA:99845 ORPHA:468620 OMIM:245348 ORPHA:96334 OMIM:614388 OMIM:614941 OMIM:300148 OMIM:618527 ORPHA:508533 ORPHA:328 ORPHA:331 ORPHA:325 ORPHA:326 ORPHA:169802 ORPHA:466722 ORPHA:404451 OMIM:619777 OMIM:180920 OMIM:149730 ORPHA:2363 ORPHA:261144 OMIM:613454 OMIM:613670 ORPHA:209908 OMIM:617904 ORPHA:33069 ORPHA:1945 OMIM:233910 ORPHA:565624 OMIM:618397 OMIM:602483 OMIM:252940 OMIM:616281 ORPHA:477673 OMIM:619580 ORPHA:208447 ORPHA:163721 ORPHA:85448 OMIM:619950 OMIM:619797 ORPHA:457359 OMIM:616977 ORPHA:397 ORPHA:36426 OMIM:300986 OMIM:614744 OMIM:619026 ORPHA:217093 ORPHA:217085 ORPHA:141291 ORPHA:363958 ORPHA:363965 OMIM:619913 ORPHA:261323 ORPHA:98870 OMIM:200990 ORPHA:258 ORPHA:779 OMIM:619180 ORPHA:398069 OMIM:250850 OMIM:156200 OMIM:300260 OMIM:300055 ORPHA:93932 OMIM:619286 ORPHA:251347 ORPHA:254930 OMIM:613559 OMIM:619717 OMIM:616266 OMIM:618321 OMIM:300912 OMIM:602535 ORPHA:90340 OMIM:617321 OMIM:300967 OMIM:614325 OMIM:618718 ORPHA:98794 OMIM:300558 OMIM:618371 OMIM:616921 ORPHA:494526 ORPHA:35069 ORPHA:98916 OMIM:607694 ORPHA:447896 OMIM:618604 ORPHA:457279 OMIM:301835 ORPHA:13 OMIM:261640 ORPHA:368 OMIM:617258 OMIM:261630 OMIM:618402 OMIM:619229 ORPHA:251028 ORPHA:576283 OMIM:133020 OMIM:618148 ORPHA:465 ORPHA:100050 OMIM:615761 ORPHA:99949 OMIM:619121 ORPHA:398079 OMIM:619080 OMIM:616645 OMIM:300523 OMIM:616657 OMIM:612949 OMIM:617013 OMIM:300243 OMIM:619293 OMIM:601358 OMIM:105830 OMIM:275900 OMIM:619312 OMIM:619475 ORPHA:500533 OMIM:612621 OMIM:616878 OMIM:618950 OMIM:188400 ORPHA:101150 OMIM:604292 ORPHA:1896 OMIM:610031 ORPHA:300570 ORPHA:411511 OMIM:617054 OMIM:200150 OMIM:301000 OMIM:618383 OMIM:314580 OMIM:301041 OMIM:235730
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.