Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal oral physiology (HP:0031815)

Parent Node:
Abnormality of salivation (HP:0100755)

..Starting node
..Excessive salivation (HP:0003781)

Term ID:

3781

Name:

Excessive salivation

Synonym:

Excessive production of saliva; Excessive salivation; Hypersalivation; Mouth watering; Oversalivation; Ptyalism; Watery mouth

Definition:

Excessive production of saliva.

Comments:

Reference:

HP:0003781

Genes and Diseases:

Child Nodes:

........

Drooling (HP:0002307)

Sister Nodes:

Xerostomia (HP:0000217)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003781	HP:0003781	Excessive salivation	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0003781	HP:0003781	Excessive salivation	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0003781	HP:0003781	Excessive salivation	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003781	HP:0003781	Excessive salivation	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		49
HP:0003781	HP:0003781	Excessive salivation	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		48
HP:0003781	HP:0003781	Excessive salivation	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive		48
HP:0003781	HP:0003781	Excessive salivation	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		41
HP:0003781	HP:0003781	Excessive salivation	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive		41
HP:0003781	HP:0003781	Excessive salivation	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		18
HP:0003781	HP:0003781	Excessive salivation	0	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related		166
HP:0003781	HP:0003781	Excessive salivation	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		4
HP:0003781	HP:0003781	Excessive salivation	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0003781	HP:0003781	Excessive salivation	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12		150
HP:0003781	HP:0003781	Excessive salivation	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism		150
HP:0003781	HP:0003781	Excessive salivation	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0003781	HP:0003781	Excessive salivation	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type		36
HP:0003781	HP:0003781	Excessive salivation	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0003781	HP:0003781	Excessive salivation	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0003781	HP:0003781	Excessive salivation	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome		17
HP:0003781	HP:0003781	Excessive salivation	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0003781	HP:0003781	Excessive salivation	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0003781	HP:0003781	Excessive salivation	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0003781	HP:0003781	Excessive salivation	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0003781	HP:0003781	Excessive salivation	0	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome		33
HP:0003781	HP:0003781	Excessive salivation	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency		82
HP:0003781	HP:0003781	Excessive salivation	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0003781	HP:0003781	Excessive salivation	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0003781	HP:0003781	Excessive salivation	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0003781	HP:0003781	Excessive salivation	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0003781	HP:0003781	Excessive salivation	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome		12
HP:0003781	HP:0003781	Excessive salivation	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003781	HP:0003781	Excessive salivation	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040282 - Frequent	177
HP:0003781	HP:0003781	Excessive salivation	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0003781	HP:0003781	Excessive salivation	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0003781	HP:0003781	Excessive salivation	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech		143
HP:0003781	HP:0003781	Excessive salivation	0	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59		5
HP:0003781	HP:0003781	Excessive salivation	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome		134
HP:0003781	HP:0003781	Excessive salivation	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome		139
HP:0003781	HP:0003781	Excessive salivation	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy		139
HP:0003781	HP:0003781	Excessive salivation	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.	86
HP:0003781	HP:0003781	Excessive salivation	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0003781	HP:0003781	Excessive salivation	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39		43
HP:0003781	HP:0003781	Excessive salivation	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0003781	HP:0003781	Excessive salivation	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49		4
HP:0003781	HP:0003781	Excessive salivation	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome		4
HP:0003781	HP:0003781	Excessive salivation	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS		32
HP:0003781	HP:0003781	Excessive salivation	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy		434
HP:0003781	HP:0003781	Excessive salivation	0	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome		434
HP:0003781	HP:0003781	Excessive salivation	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0003781	HP:0003781	Excessive salivation	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0003781	HP:0003781	Excessive salivation	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0003781	HP:0003781	Excessive salivation	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040282 - Frequent	4
HP:0003781	HP:0003781	Excessive salivation	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0003781	HP:0003781	Excessive salivation	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0003781	HP:0003781	Excessive salivation	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040282 - Frequent	8
HP:0003781	HP:0003781	Excessive salivation	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0003781	HP:0003781	Excessive salivation	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0003781	HP:0003781	Excessive salivation	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0003781	HP:0003781	Excessive salivation	0	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0003781	HP:0003781	Excessive salivation	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0003781	HP:0003781	Excessive salivation	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0003781	HP:0003781	Excessive salivation	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13	.	950
HP:0003781	HP:0003781	Excessive salivation	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0003781	HP:0003781	Excessive salivation	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0003781	HP:0003781	Excessive salivation	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0003781	HP:0003781	Excessive salivation	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0003781	HP:0003781	Excessive salivation	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0003781	HP:0003781	Excessive salivation	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0003781	HP:0003781	Excessive salivation	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0003781	HP:0003781	Excessive salivation	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0003781	HP:0003781	Excessive salivation	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0003781	HP:0003781	Excessive salivation	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0003781	HP:0003781	Excessive salivation	0	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2		470
HP:0003781	HP:0003781	Excessive salivation	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0003781	HP:0003781	Excessive salivation	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion		121
HP:0003781	HP:0003781	Excessive salivation	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0003781	HP:0003781	Excessive salivation	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome		225
HP:0003781	HP:0003781	Excessive salivation	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0003781	HP:0003781	Excessive salivation	0	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset		5
HP:0003781	HP:0003781	Excessive salivation	0	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement		5
HP:0003781	HP:0003781	Excessive salivation	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0003781	HP:0003781	Excessive salivation	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0003781	HP:0003781	Excessive salivation	0	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy		79
HP:0003781	HP:0003781	Excessive salivation	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0003781	HP:0003781	Excessive salivation	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome		138
HP:0003781	HP:0003781	Excessive salivation	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0003781	HP:0003781	Excessive salivation	0	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0003781	HP:0003781	Excessive salivation	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome		49
HP:0003781	HP:0003781	Excessive salivation	0	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional	19
HP:0003781	HP:0003781	Excessive salivation	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.	19
HP:0003781	HP:0003781	Excessive salivation	0	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.	43
HP:0003781	HP:0003781	Excessive salivation	0	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70		2
HP:0003781	HP:0003781	Excessive salivation	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003781	HP:0003781	Excessive salivation	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0003781	HP:0003781	Excessive salivation	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement		34
HP:0003781	HP:0003781	Excessive salivation	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant		34
HP:0003781	HP:0003781	Excessive salivation	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome		1053
HP:0003781	HP:0003781	Excessive salivation	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome		126
HP:0003781	HP:0003781	Excessive salivation	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome		427
HP:0003781	HP:0003781	Excessive salivation	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome		318
HP:0003781	HP:0003781	Excessive salivation	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0003781	HP:0003781	Excessive salivation	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0003781	HP:0003781	Excessive salivation	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0003781	HP:0003781	Excessive salivation	0	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34		8
HP:0003781	HP:0003781	Excessive salivation	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0003781	HP:0003781	Excessive salivation	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly		4
HP:0003781	HP:0003781	Excessive salivation	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0003781	HP:0003781	Excessive salivation	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type		93
HP:0003781	HP:0003781	Excessive salivation	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0003781	HP:0003781	Excessive salivation	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0003781	HP:0003781	Excessive salivation	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0003781	HP:0003781	Excessive salivation	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		37
HP:0003781	HP:0003781	Excessive salivation	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive		66
HP:0003781	HP:0003781	Excessive salivation	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0003781	HP:0003781	Excessive salivation	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0003781	HP:0003781	Excessive salivation	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0003781	HP:0003781	Excessive salivation	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy		50
HP:0003781	HP:0003781	Excessive salivation	0	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome		50
HP:0003781	HP:0003781	Excessive salivation	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome		6
HP:0003781	HP:0003781	Excessive salivation	0	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5		108
HP:0003781	HP:0003781	Excessive salivation	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0003781	HP:0003781	Excessive salivation	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0003781	HP:0003781	Excessive salivation	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0003781	HP:0003781	Excessive salivation	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	80
HP:0003781	HP:0003781	Excessive salivation	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	2
HP:0003781	HP:0003781	Excessive salivation	0	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7		39
HP:0003781	HP:0003781	Excessive salivation	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0003781	HP:0003781	Excessive salivation	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation		278
HP:0003781	HP:0003781	Excessive salivation	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		278
HP:0003781	HP:0003781	Excessive salivation	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion		278
HP:0003781	HP:0003781	Excessive salivation	0	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset	.	6
HP:0003781	HP:0003781	Excessive salivation	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS		130
HP:0003781	HP:0003781	Excessive salivation	0	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0003781	HP:0003781	Excessive salivation	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome		19
HP:0003781	HP:0003781	Excessive salivation	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0003781	HP:0003781	Excessive salivation	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0003781	HP:0002307	Drooling	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0003781	HP:0002307	Drooling	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0003781	HP:0002307	Drooling	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003781	HP:0002307	Drooling	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	49
HP:0003781	HP:0002307	Drooling	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	48
HP:0003781	HP:0002307	Drooling	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0003781	HP:0002307	Drooling	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	41
HP:0003781	HP:0002307	Drooling	1	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0003781	HP:0002307	Drooling	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	18
HP:0003781	HP:0002307	Drooling	1	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related		166
HP:0003781	HP:0002307	Drooling	1	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	4
HP:0003781	HP:0002307	Drooling	1	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0003781	HP:0002307	Drooling	1	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	.	150
HP:0003781	HP:0002307	Drooling	1	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism	HP:0040282 - Frequent	150
HP:0003781	HP:0002307	Drooling	1	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0003781	HP:0002307	Drooling	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional	36
HP:0003781	HP:0002307	Drooling	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.	315
HP:0003781	HP:0002307	Drooling	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0003781	HP:0002307	Drooling	1	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome	.	17
HP:0003781	HP:0002307	Drooling	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0003781	HP:0002307	Drooling	1	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0003781	HP:0002307	Drooling	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0003781	HP:0002307	Drooling	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0003781	HP:0002307	Drooling	1	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	HP:0040283 - Occasional	33
HP:0003781	HP:0002307	Drooling	1	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.	82
HP:0003781	HP:0002307	Drooling	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0003781	HP:0002307	Drooling	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0003781	HP:0002307	Drooling	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.	8
HP:0003781	HP:0002307	Drooling	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0003781	HP:0002307	Drooling	1	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent	12
HP:0003781	HP:0002307	Drooling	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003781	HP:0002307	Drooling	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant	.	177
HP:0003781	HP:0002307	Drooling	1	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0003781	HP:0002307	Drooling	1	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040283 - Occasional	143
HP:0003781	HP:0002307	Drooling	1	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59	.	5
HP:0003781	HP:0002307	Drooling	1	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	134
HP:0003781	HP:0002307	Drooling	1	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	139
HP:0003781	HP:0002307	Drooling	1	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent	139
HP:0003781	HP:0002307	Drooling	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0003781	HP:0002307	Drooling	1	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	.	43
HP:0003781	HP:0002307	Drooling	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0003781	HP:0002307	Drooling	1	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49	.	4
HP:0003781	HP:0002307	Drooling	1	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent	4
HP:0003781	HP:0002307	Drooling	1	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS		32
HP:0003781	HP:0002307	Drooling	1	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent	434
HP:0003781	HP:0002307	Drooling	1	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040282 - Frequent	434
HP:0003781	HP:0002307	Drooling	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0003781	HP:0002307	Drooling	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent	16
HP:0003781	HP:0002307	Drooling	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0003781	HP:0002307	Drooling	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0003781	HP:0002307	Drooling	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0003781	HP:0002307	Drooling	1	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0003781	HP:0002307	Drooling	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0003781	HP:0002307	Drooling	1	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0003781	HP:0002307	Drooling	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0003781	HP:0002307	Drooling	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0003781	HP:0002307	Drooling	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0003781	HP:0002307	Drooling	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0003781	HP:0002307	Drooling	1	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0003781	HP:0002307	Drooling	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0003781	HP:0002307	Drooling	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040283 - Occasional	532
HP:0003781	HP:0002307	Drooling	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0003781	HP:0002307	Drooling	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0003781	HP:0002307	Drooling	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0003781	HP:0002307	Drooling	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0003781	HP:0002307	Drooling	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0003781	HP:0002307	Drooling	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0003781	HP:0002307	Drooling	1	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2	.	470
HP:0003781	HP:0002307	Drooling	1	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0003781	HP:0002307	Drooling	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent	121
HP:0003781	HP:0002307	Drooling	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0003781	HP:0002307	Drooling	1	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	225
HP:0003781	HP:0002307	Drooling	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	HP:0040284 - Very rare
HP:0003781	HP:0002307	Drooling	1	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset		5
HP:0003781	HP:0002307	Drooling	1	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement	HP:0040282 - Frequent	5
HP:0003781	HP:0002307	Drooling	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0003781	HP:0002307	Drooling	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040283 - Occasional	133
HP:0003781	HP:0002307	Drooling	1	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040282 - Frequent	79
HP:0003781	HP:0002307	Drooling	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	138
HP:0003781	HP:0002307	Drooling	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040283 - Occasional	138
HP:0003781	HP:0002307	Drooling	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	67
HP:0003781	HP:0002307	Drooling	1	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0003781	HP:0002307	Drooling	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.	49
HP:0003781	HP:0002307	Drooling	1	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70		2
HP:0003781	HP:0002307	Drooling	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0003781	HP:0002307	Drooling	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0003781	HP:0002307	Drooling	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040282 - Frequent	34
HP:0003781	HP:0002307	Drooling	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040282 - Frequent	34
HP:0003781	HP:0002307	Drooling	1	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	1053
HP:0003781	HP:0002307	Drooling	1	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	126
HP:0003781	HP:0002307	Drooling	1	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	427
HP:0003781	HP:0002307	Drooling	1	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	318
HP:0003781	HP:0002307	Drooling	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0003781	HP:0002307	Drooling	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional	493
HP:0003781	HP:0002307	Drooling	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0003781	HP:0002307	Drooling	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0003781	HP:0002307	Drooling	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly		4
HP:0003781	HP:0002307	Drooling	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0003781	HP:0002307	Drooling	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type		93
HP:0003781	HP:0002307	Drooling	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0003781	HP:0002307	Drooling	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0003781	HP:0002307	Drooling	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	.	37
HP:0003781	HP:0002307	Drooling	1	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	37
HP:0003781	HP:0002307	Drooling	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0003781	HP:0002307	Drooling	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0003781	HP:0002307	Drooling	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0003781	HP:0002307	Drooling	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0003781	HP:0002307	Drooling	1	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent	50
HP:0003781	HP:0002307	Drooling	1	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040282 - Frequent	50
HP:0003781	HP:0002307	Drooling	1	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040283 - Occasional	6
HP:0003781	HP:0002307	Drooling	1	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5		108
HP:0003781	HP:0002307	Drooling	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	.	12
HP:0003781	HP:0002307	Drooling	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0003781	HP:0002307	Drooling	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0003781	HP:0002307	Drooling	1	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7	.	39
HP:0003781	HP:0002307	Drooling	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	.	278
HP:0003781	HP:0002307	Drooling	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040283 - Occasional	278
HP:0003781	HP:0002307	Drooling	1	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	278
HP:0003781	HP:0002307	Drooling	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent	278
HP:0003781	HP:0002307	Drooling	1	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset	.	6
HP:0003781	HP:0002307	Drooling	1	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.	130
HP:0003781	HP:0002307	Drooling	1	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69	.
HP:0003781	HP:0002307	Drooling	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0003781	HP:0002307	Drooling	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0003781	HP:0002307	Drooling	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362

Genes (113) :ADGRG1 ALS2 ANXA11 AP4B1 AP4E1 AP4M1 AP4S1 ARX ATP10A ATP1A3 ATP6AP2 ATP7B ATRX BCORL1 CAMTA1 CERT1 CHAMP1 CLDN11 DEAF1 DLAT DLK1 DNM1L EIF2S3 EXTL3 FBLN1 FBXO28 FOXG1 FOXP1 FOXP2 GABBR2 GABRA1 GABRG2 GCH1 GFM2 GNS GPT2 GRIK2 GRIN2A HDAC4 HERC1 HIVEP2 HLA-B HNRNPH2 HPDL IKZF1 KCNC2 KIF15 KIF7 LMNB2 MBD5 MECP2 MED12 MED27 MEG3 MRE11 NAA20 NALCN NAXD NEXMIF NFIX NONO NRXN1 NTNG2 OCA2 PAK3 PCDH19 PCGF2 PDE10A PI4KA PLA2G6 PMP22 POLR3A POLR3B POU3F3 PRPS1 PTS QDPR RSRC1 RTL1 SATB1 SATB2 SCN1A SCN1B SCN2A SCN9A SETD5 SH3TC2 SHMT2 SLC12A5 SLC16A2 SLC1A4 SLC25A12 SLC9A6 SMARCA2 SNRPN SPART SPEN SPTBN1 SRPX2 STRADA SYNGAP1 TANGO2 TASP1 TBX1 TH TSPOAP1 TUBB2B UBE3A VAC14 VPS13A ZBTB11 ZC4H2 ZEB2

Diseases (113) :ORPHA:98889 OMIM:205100 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 OMIM:301029 OMIM:614756 OMIM:616351 OMIM:616579 OMIM:619328 ORPHA:468620 OMIM:245348 ORPHA:96334 OMIM:614388 OMIM:300148 ORPHA:508533 ORPHA:404451 OMIM:619777 ORPHA:261144 OMIM:613454 OMIM:613670 ORPHA:209908 OMIM:617904 ORPHA:33069 ORPHA:1945 OMIM:233910 ORPHA:565624 OMIM:618397 OMIM:252940 OMIM:616281 ORPHA:477673 OMIM:619580 ORPHA:163721 OMIM:619797 ORPHA:457359 OMIM:616977 ORPHA:36426 OMIM:300986 OMIM:619026 OMIM:619913 ORPHA:261323 OMIM:200990 OMIM:619180 OMIM:156200 OMIM:300260 OMIM:300055 ORPHA:93932 OMIM:619286 ORPHA:251347 OMIM:619717 OMIM:616266 OMIM:618321 OMIM:300912 OMIM:602535 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 OMIM:301835 ORPHA:13 OMIM:261640 OMIM:261630 OMIM:618402 OMIM:619229 ORPHA:251028 ORPHA:576283 OMIM:615761 ORPHA:99949 OMIM:619121 OMIM:616645 OMIM:300523 OMIM:616657 OMIM:612949 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:610031 ORPHA:411511 OMIM:617054 OMIM:200150 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.

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