Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormality of the mouth (HP:0000153)

Parent Node:
Abnormal oral physiology (HP:0031815)

..Starting node
..Abnormality of salivation (HP:0100755)

Term ID:

100755

Name:

Abnormality of salivation

Synonym:

Abnormal spit; Abnormality of salivation

Definition:

Comments:

Reference:

HP:0100755

Genes and Diseases:

Child Nodes:

........

Xerostomia (HP:0000217)

........

Excessive salivation (HP:0003781)

................... HP:0002307 Drooling

Sister Nodes:

Halitosis (HP:0100812)

Impaired mastication (HP:0005216)

Oral bleeding (HP:0040184)

Oral cavity bleeding (HP:0030140)

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:0100755	HP:0100755	Abnormality of salivation	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0100755	HP:0100755	Abnormality of salivation	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0100755	HP:0100755	Abnormality of salivation	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis		32
HP:0100755	HP:0100755	Abnormality of salivation	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis
HP:0100755	HP:0100755	Abnormality of salivation	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0100755	HP:0100755	Abnormality of salivation	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		49
HP:0100755	HP:0100755	Abnormality of salivation	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		48
HP:0100755	HP:0100755	Abnormality of salivation	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive		48
HP:0100755	HP:0100755	Abnormality of salivation	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		41
HP:0100755	HP:0100755	Abnormality of salivation	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive		41
HP:0100755	HP:0100755	Abnormality of salivation	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		18
HP:0100755	HP:0100755	Abnormality of salivation	0	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related		166
HP:0100755	HP:0100755	Abnormality of salivation	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		4
HP:0100755	HP:0100755	Abnormality of salivation	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0100755	HP:0100755	Abnormality of salivation	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12		150
HP:0100755	HP:0100755	Abnormality of salivation	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism		150
HP:0100755	HP:0100755	Abnormality of salivation	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0100755	HP:0100755	Abnormality of salivation	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type		36
HP:0100755	HP:0100755	Abnormality of salivation	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0100755	HP:0100755	Abnormality of salivation	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0100755	HP:0100755	Abnormality of salivation	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis		11
HP:0100755	HP:0100755	Abnormality of salivation	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome		17
HP:0100755	HP:0100755	Abnormality of salivation	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis		56
HP:0100755	HP:0100755	Abnormality of salivation	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0100755	HP:0100755	Abnormality of salivation	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis		11
HP:0100755	HP:0100755	Abnormality of salivation	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0100755	HP:0100755	Abnormality of salivation	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis
HP:0100755	HP:0100755	Abnormality of salivation	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0100755	HP:0100755	Abnormality of salivation	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0100755	HP:0100755	Abnormality of salivation	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis
HP:0100755	HP:0100755	Abnormality of salivation	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0100755	HP:0100755	Abnormality of salivation	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis		11
HP:0100755	HP:0100755	Abnormality of salivation	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis		42
HP:0100755	HP:0100755	Abnormality of salivation	0	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0100755	HP:0100755	Abnormality of salivation	0	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0100755	HP:0100755	Abnormality of salivation	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0100755	HP:0100755	Abnormality of salivation	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis
HP:0100755	HP:0100755	Abnormality of salivation	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis		86
HP:0100755	HP:0100755	Abnormality of salivation	0	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome		33
HP:0100755	HP:0100755	Abnormality of salivation	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency		82
HP:0100755	HP:0100755	Abnormality of salivation	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0100755	HP:0100755	Abnormality of salivation	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0100755	HP:0100755	Abnormality of salivation	0	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0100755	HP:0100755	Abnormality of salivation	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0100755	HP:0100755	Abnormality of salivation	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0100755	HP:0100755	Abnormality of salivation	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis		4
HP:0100755	HP:0100755	Abnormality of salivation	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis		15
HP:0100755	HP:0100755	Abnormality of salivation	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0100755	HP:0100755	Abnormality of salivation	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome		12
HP:0100755	HP:0100755	Abnormality of salivation	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0100755	HP:0100755	Abnormality of salivation	0	FGF10 CL E G H	2255	3666	OMIM:180920	Aplasia of lacrimal and salivary glands		17
HP:0100755	HP:0100755	Abnormality of salivation	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0100755	HP:0100755	Abnormality of salivation	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0100755	HP:0100755	Abnormality of salivation	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0100755	HP:0100755	Abnormality of salivation	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0100755	HP:0100755	Abnormality of salivation	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0100755	HP:0100755	Abnormality of salivation	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0100755	HP:0100755	Abnormality of salivation	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis		111
HP:0100755	HP:0100755	Abnormality of salivation	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion		177
HP:0100755	HP:0100755	Abnormality of salivation	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0100755	HP:0100755	Abnormality of salivation	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0100755	HP:0100755	Abnormality of salivation	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech		143
HP:0100755	HP:0100755	Abnormality of salivation	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis		105
HP:0100755	HP:0100755	Abnormality of salivation	0	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59		5
HP:0100755	HP:0100755	Abnormality of salivation	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome		134
HP:0100755	HP:0100755	Abnormality of salivation	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome		139
HP:0100755	HP:0100755	Abnormality of salivation	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy		139
HP:0100755	HP:0100755	Abnormality of salivation	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B		86
HP:0100755	HP:0100755	Abnormality of salivation	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0100755	HP:0100755	Abnormality of salivation	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39		43
HP:0100755	HP:0100755	Abnormality of salivation	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis		45
HP:0100755	HP:0100755	Abnormality of salivation	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis
HP:0100755	HP:0100755	Abnormality of salivation	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0100755	HP:0100755	Abnormality of salivation	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49		4
HP:0100755	HP:0100755	Abnormality of salivation	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome		4
HP:0100755	HP:0100755	Abnormality of 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:0100755	HP:0100755	Abnormality of salivation	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy		434
HP:0100755	HP:0100755	Abnormality of salivation	0	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome		434
HP:0100755	HP:0100755	Abnormality of salivation	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0100755	HP:0100755	Abnormality of salivation	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0100755	HP:0100755	Abnormality of salivation	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0100755	HP:0100755	Abnormality of salivation	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0100755	HP:0100755	Abnormality of salivation	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome		4
HP:0100755	HP:0100755	Abnormality of salivation	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis		2
HP:0100755	HP:0100755	Abnormality of salivation	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis		31
HP:0100755	HP:0100755	Abnormality of salivation	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0100755	HP:0100755	Abnormality of salivation	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0100755	HP:0100755	Abnormality of salivation	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome		8
HP:0100755	HP:0100755	Abnormality of salivation	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis		4
HP:0100755	HP:0100755	Abnormality of salivation	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0100755	HP:0100755	Abnormality of salivation	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0100755	HP:0100755	Abnormality of salivation	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0100755	HP:0100755	Abnormality of salivation	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome		70
HP:0100755	HP:0100755	Abnormality of salivation	0	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0100755	HP:0100755	Abnormality of salivation	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0100755	HP:0100755	Abnormality of salivation	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis		80
HP:0100755	HP:0100755	Abnormality of salivation	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0100755	HP:0100755	Abnormality of salivation	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0100755	HP:0100755	Abnormality of salivation	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0100755	HP:0100755	Abnormality of salivation	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0100755	HP:0100755	Abnormality of salivation	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0100755	HP:0100755	Abnormality of salivation	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0100755	HP:0100755	Abnormality of salivation	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0100755	HP:0100755	Abnormality of salivation	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0100755	HP:0100755	Abnormality of salivation	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0100755	HP:0100755	Abnormality of salivation	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0100755	HP:0100755	Abnormality of salivation	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis		24
HP:0100755	HP:0100755	Abnormality of salivation	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis		101
HP:0100755	HP:0100755	Abnormality of salivation	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0100755	HP:0100755	Abnormality of salivation	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0100755	HP:0100755	Abnormality of salivation	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0100755	HP:0100755	Abnormality of salivation	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0100755	HP:0100755	Abnormality of salivation	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0100755	HP:0100755	Abnormality of salivation	0	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2		470
HP:0100755	HP:0100755	Abnormality of salivation	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0100755	HP:0100755	Abnormality of salivation	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion		121
HP:0100755	HP:0100755	Abnormality of salivation	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis		62
HP:0100755	HP:0100755	Abnormality of salivation	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0100755	HP:0100755	Abnormality of salivation	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome		225
HP:0100755	HP:0100755	Abnormality of salivation	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0100755	HP:0100755	Abnormality of salivation	0	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset		5
HP:0100755	HP:0100755	Abnormality of salivation	0	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement		5
HP:0100755	HP:0100755	Abnormality of salivation	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis		6
HP:0100755	HP:0100755	Abnormality of salivation	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0100755	HP:0100755	Abnormality of salivation	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0100755	HP:0100755	Abnormality of salivation	0	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy		79
HP:0100755	HP:0100755	Abnormality of salivation	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0100755	HP:0100755	Abnormality of salivation	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome		138
HP:0100755	HP:0100755	Abnormality of salivation	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0100755	HP:0100755	Abnormality of salivation	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis		4
HP:0100755	HP:0100755	Abnormality of salivation	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis		2
HP:0100755	HP:0100755	Abnormality of salivation	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis		1
HP:0100755	HP:0100755	Abnormality of salivation	0	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0100755	HP:0100755	Abnormality of salivation	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis		1
HP:0100755	HP:0100755	Abnormality of salivation	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis		25
HP:0100755	HP:0100755	Abnormality of salivation	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome		49
HP:0100755	HP:0100755	Abnormality of salivation	0	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency		19
HP:0100755	HP:0100755	Abnormality of salivation	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A		19
HP:0100755	HP:0100755	Abnormality of salivation	0	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C		43
HP:0100755	HP:0100755	Abnormality of salivation	0	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70		2
HP:0100755	HP:0100755	Abnormality of salivation	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0100755	HP:0100755	Abnormality of salivation	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0100755	HP:0100755	Abnormality of salivation	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement		34
HP:0100755	HP:0100755	Abnormality of salivation	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant		34
HP:0100755	HP:0100755	Abnormality of salivation	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome		1053
HP:0100755	HP:0100755	Abnormality of salivation	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome		126
HP:0100755	HP:0100755	Abnormality of salivation	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome		427
HP:0100755	HP:0100755	Abnormality of salivation	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome		318
HP:0100755	HP:0100755	Abnormality of salivation	0	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary		318
HP:0100755	HP:0100755	Abnormality of salivation	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040282 - Frequent	64
HP:0100755	HP:0100755	Abnormality of salivation	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0100755	HP:0100755	Abnormality of salivation	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0100755	HP:0100755	Abnormality of salivation	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0100755	HP:0100755	Abnormality of salivation	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0100755	HP:0100755	Abnormality of salivation	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0100755	HP:0100755	Abnormality of salivation	0	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34		8
HP:0100755	HP:0100755	Abnormality of salivation	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0100755	HP:0100755	Abnormality of salivation	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly		4
HP:0100755	HP:0100755	Abnormality of salivation	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0100755	HP:0100755	Abnormality of salivation	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type		93
HP:0100755	HP:0100755	Abnormality of salivation	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0100755	HP:0100755	Abnormality of salivation	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0100755	HP:0100755	Abnormality of salivation	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0100755	HP:0100755	Abnormality of salivation	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		37
HP:0100755	HP:0100755	Abnormality of salivation	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis		53
HP:0100755	HP:0100755	Abnormality of salivation	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive		66
HP:0100755	HP:0100755	Abnormality of salivation	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0100755	HP:0100755	Abnormality of salivation	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100755	HP:0100755	Abnormality of salivation	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis		62
HP:0100755	HP:0100755	Abnormality of salivation	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0100755	HP:0100755	Abnormality of salivation	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy		50
HP:0100755	HP:0100755	Abnormality of salivation	0	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome		50
HP:0100755	HP:0100755	Abnormality of salivation	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome		6
HP:0100755	HP:0100755	Abnormality of salivation	0	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5		108
HP:0100755	HP:0100755	Abnormality of salivation	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis
HP:0100755	HP:0100755	Abnormality of salivation	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0100755	HP:0100755	Abnormality of salivation	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis		65
HP:0100755	HP:0100755	Abnormality of salivation	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0100755	HP:0100755	Abnormality of salivation	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis		20
HP:0100755	HP:0100755	Abnormality of salivation	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0100755	HP:0100755	Abnormality of salivation	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia		80
HP:0100755	HP:0100755	Abnormality of salivation	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0100755	HP:0100755	Abnormality of salivation	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0100755	HP:0100755	Abnormality of salivation	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis		31
HP:0100755	HP:0100755	Abnormality of salivation	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia		2
HP:0100755	HP:0100755	Abnormality of salivation	0	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7		39
HP:0100755	HP:0100755	Abnormality of salivation	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0100755	HP:0100755	Abnormality of salivation	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation		278
HP:0100755	HP:0100755	Abnormality of salivation	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		278
HP:0100755	HP:0100755	Abnormality of salivation	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion		278
HP:0100755	HP:0100755	Abnormality of salivation	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis		20
HP:0100755	HP:0100755	Abnormality of salivation	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis		1
HP:0100755	HP:0100755	Abnormality of salivation	0	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset		6
HP:0100755	HP:0100755	Abnormality of salivation	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis		116
HP:0100755	HP:0100755	Abnormality of salivation	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis		63
HP:0100755	HP:0100755	Abnormality of salivation	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS		130
HP:0100755	HP:0100755	Abnormality of salivation	0	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0100755	HP:0100755	Abnormality of salivation	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome		19
HP:0100755	HP:0100755	Abnormality of salivation	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0100755	HP:0100755	Abnormality of salivation	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0100755	HP:0003781	Excessive salivation	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0100755	HP:0003781	Excessive salivation	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0100755	HP:0000217	Xerostomia	1	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	32
HP:0100755	HP:0000217	Xerostomia	1	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0100755	HP:0003781	Excessive salivation	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0100755	HP:0003781	Excessive salivation	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		49
HP:0100755	HP:0003781	Excessive salivation	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		48
HP:0100755	HP:0003781	Excessive salivation	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive		48
HP:0100755	HP:0003781	Excessive salivation	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		41
HP:0100755	HP:0003781	Excessive salivation	1	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive		41
HP:0100755	HP:0003781	Excessive salivation	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		18
HP:0100755	HP:0003781	Excessive salivation	1	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related		166
HP:0100755	HP:0003781	Excessive salivation	1	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		4
HP:0100755	HP:0003781	Excessive salivation	1	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0100755	HP:0003781	Excessive salivation	1	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12		150
HP:0100755	HP:0003781	Excessive salivation	1	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism		150
HP:0100755	HP:0003781	Excessive salivation	1	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0100755	HP:0003781	Excessive salivation	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type		36
HP:0100755	HP:0003781	Excessive salivation	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0100755	HP:0003781	Excessive salivation	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0100755	HP:0000217	Xerostomia	1	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0100755	HP:0003781	Excessive salivation	1	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome		17
HP:0100755	HP:0000217	Xerostomia	1	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	56
HP:0100755	HP:0003781	Excessive salivation	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0100755	HP:0000217	Xerostomia	1	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent	11
HP:0100755	HP:0000217	Xerostomia	1	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0100755	HP:0000217	Xerostomia	1	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0100755	HP:0000217	Xerostomia	1	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0100755	HP:0003781	Excessive salivation	1	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0100755	HP:0000217	Xerostomia	1	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0100755	HP:0003781	Excessive salivation	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0100755	HP:0000217	Xerostomia	1	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0100755	HP:0000217	Xerostomia	1	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	42
HP:0100755	HP:0000217	Xerostomia	1	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.	4
HP:0100755	HP:0000217	Xerostomia	1	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0100755	HP:0003781	Excessive salivation	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0100755	HP:0000217	Xerostomia	1	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0100755	HP:0000217	Xerostomia	1	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	86
HP:0100755	HP:0003781	Excessive salivation	1	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome		33
HP:0100755	HP:0003781	Excessive salivation	1	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency		82
HP:0100755	HP:0003781	Excessive salivation	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0100755	HP:0003781	Excessive salivation	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0100755	HP:0000217	Xerostomia	1	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0100755	HP:0003781	Excessive salivation	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0100755	HP:0000217	Xerostomia	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0100755	HP:0000217	Xerostomia	1	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0100755	HP:0000217	Xerostomia	1	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	15
HP:0100755	HP:0003781	Excessive salivation	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0100755	HP:0003781	Excessive salivation	1	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome		12
HP:0100755	HP:0003781	Excessive salivation	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0100755	HP:0000217	Xerostomia	1	FGF10 CL E G H	2255	3666	OMIM:180920	Aplasia of lacrimal and salivary glands	.	17
HP:0100755	HP:0000217	Xerostomia	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	17
HP:0100755	HP:0000217	Xerostomia	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0100755	HP:0000217	Xerostomia	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	175
HP:0100755	HP:0000217	Xerostomia	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0100755	HP:0000217	Xerostomia	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	145
HP:0100755	HP:0000217	Xerostomia	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0100755	HP:0000217	Xerostomia	1	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	111
HP:0100755	HP:0003781	Excessive salivation	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040282 - Frequent	177
HP:0100755	HP:0003781	Excessive salivation	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0100755	HP:0003781	Excessive salivation	1	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0100755	HP:0003781	Excessive salivation	1	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech		143
HP:0100755	HP:0000217	Xerostomia	1	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	105
HP:0100755	HP:0003781	Excessive salivation	1	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59		5
HP:0100755	HP:0003781	Excessive salivation	1	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome		134
HP:0100755	HP:0003781	Excessive salivation	1	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome		139
HP:0100755	HP:0003781	Excessive salivation	1	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy		139
HP:0100755	HP:0003781	Excessive salivation	1	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.	86
HP:0100755	HP:0003781	Excessive salivation	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0100755	HP:0003781	Excessive salivation	1	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39		43
HP:0100755	HP:0000217	Xerostomia	1	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	45
HP:0100755	HP:0000217	Xerostomia	1	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0100755	HP:0003781	Excessive salivation	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0100755	HP:0003781	Excessive salivation	1	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49		4
HP:0100755	HP:0003781	Excessive salivation	1	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome		4
HP:0100755	HP:0003781	Excessive salivation	1	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS		32
HP:0100755	HP:0003781	Excessive salivation	1	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy		434
HP:0100755	HP:0003781	Excessive salivation	1	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome		434
HP:0100755	HP:0000217	Xerostomia	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040282 - Frequent	53
HP:0100755	HP:0003781	Excessive salivation	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0100755	HP:0003781	Excessive salivation	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0100755	HP:0003781	Excessive salivation	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0100755	HP:0003781	Excessive salivation	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040282 - Frequent	4
HP:0100755	HP:0000217	Xerostomia	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent	2
HP:0100755	HP:0000217	Xerostomia	1	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0100755	HP:0003781	Excessive salivation	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0100755	HP:0003781	Excessive salivation	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0100755	HP:0003781	Excessive salivation	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040282 - Frequent	8
HP:0100755	HP:0000217	Xerostomia	1	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent	4
HP:0100755	HP:0003781	Excessive salivation	1	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0100755	HP:0003781	Excessive salivation	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0100755	HP:0003781	Excessive salivation	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0100755	HP:0000217	Xerostomia	1	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040282 - Frequent	70
HP:0100755	HP:0003781	Excessive salivation	1	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0100755	HP:0000217	Xerostomia	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0100755	HP:0000217	Xerostomia	1	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	80
HP:0100755	HP:0003781	Excessive salivation	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0100755	HP:0003781	Excessive salivation	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0100755	HP:0003781	Excessive salivation	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13	.	950
HP:0100755	HP:0003781	Excessive salivation	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0100755	HP:0003781	Excessive salivation	1	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0100755	HP:0003781	Excessive salivation	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0100755	HP:0003781	Excessive salivation	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0100755	HP:0003781	Excessive salivation	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0100755	HP:0003781	Excessive salivation	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0100755	HP:0003781	Excessive salivation	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0100755	HP:0000217	Xerostomia	1	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	24
HP:0100755	HP:0000217	Xerostomia	1	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	101
HP:0100755	HP:0003781	Excessive salivation	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0100755	HP:0003781	Excessive salivation	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0100755	HP:0000217	Xerostomia	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional	187
HP:0100755	HP:0000217	Xerostomia	1	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0100755	HP:0003781	Excessive salivation	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0100755	HP:0003781	Excessive salivation	1	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2		470
HP:0100755	HP:0003781	Excessive salivation	1	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0100755	HP:0003781	Excessive salivation	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion		121
HP:0100755	HP:0000217	Xerostomia	1	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0100755	HP:0003781	Excessive salivation	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0100755	HP:0003781	Excessive salivation	1	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome		225
HP:0100755	HP:0003781	Excessive salivation	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0100755	HP:0003781	Excessive salivation	1	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset		5
HP:0100755	HP:0003781	Excessive salivation	1	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement		5
HP:0100755	HP:0000217	Xerostomia	1	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	6
HP:0100755	HP:0003781	Excessive salivation	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0100755	HP:0003781	Excessive salivation	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0100755	HP:0003781	Excessive salivation	1	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy		79
HP:0100755	HP:0003781	Excessive salivation	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0100755	HP:0003781	Excessive salivation	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome		138
HP:0100755	HP:0003781	Excessive salivation	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0100755	HP:0000217	Xerostomia	1	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0100755	HP:0000217	Xerostomia	1	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	2
HP:0100755	HP:0000217	Xerostomia	1	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0100755	HP:0003781	Excessive salivation	1	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0100755	HP:0000217	Xerostomia	1	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0100755	HP:0000217	Xerostomia	1	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	25
HP:0100755	HP:0003781	Excessive salivation	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome		49
HP:0100755	HP:0003781	Excessive salivation	1	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional	19
HP:0100755	HP:0003781	Excessive salivation	1	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.	19
HP:0100755	HP:0003781	Excessive salivation	1	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.	43
HP:0100755	HP:0003781	Excessive salivation	1	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70		2
HP:0100755	HP:0003781	Excessive salivation	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0100755	HP:0003781	Excessive salivation	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0100755	HP:0003781	Excessive salivation	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement		34
HP:0100755	HP:0003781	Excessive salivation	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant		34
HP:0100755	HP:0003781	Excessive salivation	1	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome		1053
HP:0100755	HP:0003781	Excessive salivation	1	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome		126
HP:0100755	HP:0003781	Excessive salivation	1	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome		427
HP:0100755	HP:0003781	Excessive salivation	1	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome		318
HP:0100755	HP:0000217	Xerostomia	1	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.	318
HP:0100755	HP:0003781	Excessive salivation	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0100755	HP:0003781	Excessive salivation	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0100755	HP:0003781	Excessive salivation	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0100755	HP:0000217	Xerostomia	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0100755	HP:0000217	Xerostomia	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0100755	HP:0003781	Excessive salivation	1	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34		8
HP:0100755	HP:0003781	Excessive salivation	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0100755	HP:0003781	Excessive salivation	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly		4
HP:0100755	HP:0003781	Excessive salivation	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0100755	HP:0003781	Excessive salivation	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type		93
HP:0100755	HP:0003781	Excessive salivation	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0100755	HP:0003781	Excessive salivation	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0100755	HP:0003781	Excessive salivation	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0100755	HP:0003781	Excessive salivation	1	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		37
HP:0100755	HP:0000217	Xerostomia	1	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	53
HP:0100755	HP:0003781	Excessive salivation	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive		66
HP:0100755	HP:0003781	Excessive salivation	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0100755	HP:0003781	Excessive salivation	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100755	HP:0000217	Xerostomia	1	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0100755	HP:0003781	Excessive salivation	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0100755	HP:0003781	Excessive salivation	1	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy		50
HP:0100755	HP:0003781	Excessive salivation	1	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome		50
HP:0100755	HP:0003781	Excessive salivation	1	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome		6
HP:0100755	HP:0003781	Excessive salivation	1	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5		108
HP:0100755	HP:0000217	Xerostomia	1	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0100755	HP:0003781	Excessive salivation	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0100755	HP:0000217	Xerostomia	1	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	65
HP:0100755	HP:0003781	Excessive salivation	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0100755	HP:0000217	Xerostomia	1	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0100755	HP:0003781	Excessive salivation	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0100755	HP:0003781	Excessive salivation	1	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	80
HP:0100755	HP:0000217	Xerostomia	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0100755	HP:0000217	Xerostomia	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional	140
HP:0100755	HP:0000217	Xerostomia	1	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0100755	HP:0003781	Excessive salivation	1	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	2
HP:0100755	HP:0003781	Excessive salivation	1	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7		39
HP:0100755	HP:0003781	Excessive salivation	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0100755	HP:0003781	Excessive salivation	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation		278
HP:0100755	HP:0003781	Excessive salivation	1	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		278
HP:0100755	HP:0003781	Excessive salivation	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion		278
HP:0100755	HP:0000217	Xerostomia	1	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0100755	HP:0000217	Xerostomia	1	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0100755	HP:0003781	Excessive salivation	1	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset	.	6
HP:0100755	HP:0000217	Xerostomia	1	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	116
HP:0100755	HP:0000217	Xerostomia	1	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	63
HP:0100755	HP:0003781	Excessive salivation	1	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS		130
HP:0100755	HP:0003781	Excessive salivation	1	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0100755	HP:0003781	Excessive salivation	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome		19
HP:0100755	HP:0003781	Excessive salivation	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0100755	HP:0003781	Excessive salivation	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0100755	HP:0002307	Drooling	2	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0100755	HP:0002307	Drooling	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0100755	HP:0002307	Drooling	2	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0100755	HP:0002307	Drooling	2	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	49
HP:0100755	HP:0002307	Drooling	2	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	48
HP:0100755	HP:0002307	Drooling	2	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0100755	HP:0002307	Drooling	2	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	41
HP:0100755	HP:0002307	Drooling	2	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0100755	HP:0002307	Drooling	2	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	18
HP:0100755	HP:0002307	Drooling	2	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related		166
HP:0100755	HP:0002307	Drooling	2	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	4
HP:0100755	HP:0002307	Drooling	2	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0100755	HP:0002307	Drooling	2	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	.	150
HP:0100755	HP:0002307	Drooling	2	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism	HP:0040282 - Frequent	150
HP:0100755	HP:0002307	Drooling	2	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0100755	HP:0002307	Drooling	2	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional	36
HP:0100755	HP:0002307	Drooling	2	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.	315
HP:0100755	HP:0002307	Drooling	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0100755	HP:0002307	Drooling	2	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome	.	17
HP:0100755	HP:0002307	Drooling	2	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0100755	HP:0002307	Drooling	2	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0100755	HP:0002307	Drooling	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0100755	HP:0002307	Drooling	2	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0100755	HP:0002307	Drooling	2	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	HP:0040283 - Occasional	33
HP:0100755	HP:0002307	Drooling	2	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.	82
HP:0100755	HP:0002307	Drooling	2	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:0100755	HP:0002307	Drooling	2	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0100755	HP:0002307	Drooling	2	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.	8
HP:0100755	HP:0002307	Drooling	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0100755	HP:0002307	Drooling	2	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent	12
HP:0100755	HP:0002307	Drooling	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0100755	HP:0002307	Drooling	2	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant	.	177
HP:0100755	HP:0002307	Drooling	2	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0100755	HP:0002307	Drooling	2	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040283 - Occasional	143
HP:0100755	HP:0002307	Drooling	2	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59	.	5
HP:0100755	HP:0002307	Drooling	2	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	134
HP:0100755	HP:0002307	Drooling	2	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	139
HP:0100755	HP:0002307	Drooling	2	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent	139
HP:0100755	HP:0002307	Drooling	2	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0100755	HP:0002307	Drooling	2	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	.	43
HP:0100755	HP:0002307	Drooling	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0100755	HP:0002307	Drooling	2	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49	.	4
HP:0100755	HP:0002307	Drooling	2	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent	4
HP:0100755	HP:0002307	Drooling	2	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS		32
HP:0100755	HP:0002307	Drooling	2	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent	434
HP:0100755	HP:0002307	Drooling	2	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040282 - Frequent	434
HP:0100755	HP:0002307	Drooling	2	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0100755	HP:0002307	Drooling	2	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent	16
HP:0100755	HP:0002307	Drooling	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0100755	HP:0002307	Drooling	2	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0100755	HP:0002307	Drooling	2	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0100755	HP:0002307	Drooling	2	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0100755	HP:0002307	Drooling	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0100755	HP:0002307	Drooling	2	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0100755	HP:0002307	Drooling	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0100755	HP:0002307	Drooling	2	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0100755	HP:0002307	Drooling	2	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0100755	HP:0002307	Drooling	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0100755	HP:0002307	Drooling	2	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0100755	HP:0002307	Drooling	2	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:0100755	HP:0002307	Drooling	2	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040283 - Occasional	532
HP:0100755	HP:0002307	Drooling	2	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0100755	HP:0002307	Drooling	2	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0100755	HP:0002307	Drooling	2	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0100755	HP:0002307	Drooling	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0100755	HP:0002307	Drooling	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0100755	HP:0002307	Drooling	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0100755	HP:0002307	Drooling	2	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2	.	470
HP:0100755	HP:0002307	Drooling	2	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0100755	HP:0002307	Drooling	2	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent	121
HP:0100755	HP:0002307	Drooling	2	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0100755	HP:0002307	Drooling	2	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	225
HP:0100755	HP:0002307	Drooling	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	HP:0040284 - Very rare
HP:0100755	HP:0002307	Drooling	2	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset		5
HP:0100755	HP:0002307	Drooling	2	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement	HP:0040282 - Frequent	5
HP:0100755	HP:0002307	Drooling	2	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0100755	HP:0002307	Drooling	2	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040283 - Occasional	133
HP:0100755	HP:0002307	Drooling	2	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040282 - Frequent	79
HP:0100755	HP:0002307	Drooling	2	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	138
HP:0100755	HP:0002307	Drooling	2	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040283 - Occasional	138
HP:0100755	HP:0002307	Drooling	2	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	67
HP:0100755	HP:0002307	Drooling	2	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0100755	HP:0002307	Drooling	2	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.	49
HP:0100755	HP:0002307	Drooling	2	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70		2
HP:0100755	HP:0002307	Drooling	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0100755	HP:0002307	Drooling	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0100755	HP:0002307	Drooling	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040282 - Frequent	34
HP:0100755	HP:0002307	Drooling	2	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040282 - Frequent	34
HP:0100755	HP:0002307	Drooling	2	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	1053
HP:0100755	HP:0002307	Drooling	2	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	126
HP:0100755	HP:0002307	Drooling	2	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	427
HP:0100755	HP:0002307	Drooling	2	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	318
HP:0100755	HP:0002307	Drooling	2	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0100755	HP:0002307	Drooling	2	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional	493
HP:0100755	HP:0002307	Drooling	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0100755	HP:0002307	Drooling	2	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0100755	HP:0002307	Drooling	2	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly		4
HP:0100755	HP:0002307	Drooling	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0100755	HP:0002307	Drooling	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type		93
HP:0100755	HP:0002307	Drooling	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0100755	HP:0002307	Drooling	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0100755	HP:0002307	Drooling	2	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	.	37
HP:0100755	HP:0002307	Drooling	2	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	37
HP:0100755	HP:0002307	Drooling	2	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0100755	HP:0002307	Drooling	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0100755	HP:0002307	Drooling	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100755	HP:0002307	Drooling	2	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0100755	HP:0002307	Drooling	2	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent	50
HP:0100755	HP:0002307	Drooling	2	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040282 - Frequent	50
HP:0100755	HP:0002307	Drooling	2	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040283 - Occasional	6
HP:0100755	HP:0002307	Drooling	2	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5		108
HP:0100755	HP:0002307	Drooling	2	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	.	12
HP:0100755	HP:0002307	Drooling	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0100755	HP:0002307	Drooling	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0100755	HP:0002307	Drooling	2	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7	.	39
HP:0100755	HP:0002307	Drooling	2	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	.	278
HP:0100755	HP:0002307	Drooling	2	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040283 - Occasional	278
HP:0100755	HP:0002307	Drooling	2	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	278
HP:0100755	HP:0002307	Drooling	2	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent	278
HP:0100755	HP:0002307	Drooling	2	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset	.	6
HP:0100755	HP:0002307	Drooling	2	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.	130
HP:0100755	HP:0002307	Drooling	2	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69	.
HP:0100755	HP:0002307	Drooling	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0100755	HP:0002307	Drooling	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0100755	HP:0002307	Drooling	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362

Genes (169) :ADGRG1 ALS2 ANG ANXA11 AP4B1 AP4E1 AP4M1 AP4S1 ARX ATP10A ATP1A3 ATP6AP2 ATP7B ATRX ATXN2 BCORL1 C9ORF72 CAMTA1 CAV1 CCN2 CCNF CCR6 CERT1 CFAP410 CHAMP1 CHCHD10 CHMP2B CHRM3 CLDN10 CLDN11 DAO DCTN1 DEAF1 DLAT DLK1 DNM1L EDARADD EIF2S3 ELOVL1 EPHA4 ERBB4 EXTL3 FBLN1 FBXO28 FGF10 FGFR2 FGFR3 FIG4 FOXG1 FOXP1 FOXP2 FUS GABBR2 GABRA1 GABRG2 GCH1 GFM2 GLE1 GLT8D1 GNS GPT2 GRIK2 GRIN2A GSN HDAC4 HERC1 HIVEP2 HLA-B HLA-DRB1 HNRNPA1 HNRNPH2 HPDL IKZF1 IRF5 KCNC2 KIF15 KIF7 LBR LMNB2 MAGEL2 MATR3 MBD5 MECP2 MED12 MED27 MEG3 MRE11 NAA20 NALCN NAXD NEFH NEK1 NEXMIF NFIX NOD2 NONO NRXN1 NTNG2 OCA2 OPTN PAK3 PCDH19 PCGF2 PDE10A PFN1 PI4KA PLA2G6 PMP22 POLR3A POLR3B PON1 PON2 PON3 POU3F3 PPARGC1A PRPH PRPS1 PTS QDPR RSRC1 RTL1 SATB1 SATB2 SCN1A SCN1B SCN2A SCN9A SERPING1 SETD5 SH3TC2 SHMT2 SIM1 SLC12A2 SLC12A5 SLC16A2 SLC1A4 SLC25A12 SLC9A6 SMARCA2 SNRPN SOD1 SPART SPEN SPTBN1 SQSTM1 SRPX2 STRADA SYNGAP1 TAF15 TANGO2 TARDBP TASP1 TBK1 TBX1 TH TP63 TREM2 TSPOAP1 TUBB2B UBE3A UBQLN2 UNC13A VAC14 VAPB VCP VPS13A ZBTB11 ZC4H2 ZEB2

Diseases (133) :ORPHA:98889 OMIM:205100 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 OMIM:301029 OMIM:614756 ORPHA:220393 OMIM:616351 OMIM:616579 OMIM:100100 OMIM:617671 OMIM:619328 ORPHA:468620 OMIM:245348 ORPHA:96334 OMIM:614388 OMIM:614941 OMIM:300148 OMIM:618527 ORPHA:508533 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:252940 OMIM:616281 ORPHA:477673 OMIM:619580 ORPHA:163721 ORPHA:85448 OMIM:619797 ORPHA:457359 OMIM:616977 ORPHA:36426 OMIM:300986 OMIM:619026 OMIM:619913 ORPHA:261323 OMIM:200990 ORPHA:779 OMIM:619180 ORPHA:398069 OMIM:156200 OMIM:300260 OMIM:300055 ORPHA:93932 OMIM:619286 ORPHA:251347 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 OMIM:301835 ORPHA:13 OMIM:261640 OMIM:261630 OMIM:618402 OMIM:619229 ORPHA:251028 ORPHA:576283 OMIM:133020 ORPHA:100050 OMIM:615761 ORPHA:99949 OMIM:619121 ORPHA:398079 OMIM:619080 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:604292 ORPHA:1896 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.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen