Human Phenotype Ontology

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:0000632	HP:0000632	Lacrimation abnormality	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0000632	HP:0000632	Lacrimation abnormality	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0000632	HP:0000632	Lacrimation abnormality	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0000632	HP:0000632	Lacrimation abnormality	0	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0000632	HP:0000632	Lacrimation abnormality	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000632	HP:0000632	Lacrimation abnormality	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000632	HP:0000632	Lacrimation abnormality	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000632	HP:0000632	Lacrimation abnormality	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0000632	HP:0000632	Lacrimation abnormality	0	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0000632	HP:0000632	Lacrimation abnormality	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000632	HP:0000632	Lacrimation abnormality	0	COL17A1 CL E G H	1308	2194	OMIM:122400	Epithelial recurrent erosion dystrophy		129
HP:0000632	HP:0000632	Lacrimation abnormality	0	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy		129
HP:0000632	HP:0000632	Lacrimation abnormality	0	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare	3
HP:0000632	HP:0000632	Lacrimation abnormality	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0000632	HP:0000632	Lacrimation abnormality	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000632	HP:0000632	Lacrimation abnormality	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0000632	HP:0000632	Lacrimation abnormality	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000632	HP:0000632	Lacrimation abnormality	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0000632	HP:0000632	Lacrimation abnormality	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia		133
HP:0000632	HP:0000632	Lacrimation abnormality	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0000632	HP:0000632	Lacrimation abnormality	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:0000632	HP:0000632	Lacrimation abnormality	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:0000632	HP:0000632	Lacrimation abnormality	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0000632	HP:0000632	Lacrimation abnormality	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0000632	HP:0000632	Lacrimation abnormality	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:0000632	HP:0000632	Lacrimation abnormality	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0000632	HP:0000632	Lacrimation abnormality	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0000632	HP:0000632	Lacrimation abnormality	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0000632	HP:0000632	Lacrimation abnormality	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0000632	HP:0000632	Lacrimation abnormality	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0000632	HP:0000632	Lacrimation abnormality	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0000632	HP:0000632	Lacrimation abnormality	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0000632	HP:0000632	Lacrimation abnormality	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000632	HP:0000632	Lacrimation abnormality	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus		92
HP:0000632	HP:0000632	Lacrimation abnormality	0	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous		109
HP:0000632	HP:0000632	Lacrimation abnormality	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0000632	HP:0000632	Lacrimation abnormality	0	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare	33
HP:0000632	HP:0000632	Lacrimation abnormality	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000632	HP:0000632	Lacrimation abnormality	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000632	HP:0000632	Lacrimation abnormality	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000632	HP:0000632	Lacrimation abnormality	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0000632	HP:0000632	Lacrimation abnormality	0	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect		3
HP:0000632	HP:0000632	Lacrimation abnormality	0	KRT12 CL E G H	3859	6414	OMIM:122100	Meesmann corneal dystrophy 1		22
HP:0000632	HP:0000632	Lacrimation abnormality	0	KRT3 CL E G H	3850	6440	OMIM:618767	CORNEAL DYSTROPHY, MEESMANN, 2; MECD2		3
HP:0000632	HP:0000632	Lacrimation abnormality	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent	144
HP:0000632	HP:0000632	Lacrimation abnormality	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0000632	HP:0000632	Lacrimation abnormality	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000632	HP:0000632	Lacrimation abnormality	0	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans		4
HP:0000632	HP:0000632	Lacrimation abnormality	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0000632	HP:0000632	Lacrimation abnormality	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0000632	HP:0000632	Lacrimation abnormality	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome		140
HP:0000632	HP:0000632	Lacrimation abnormality	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000632	HP:0000632	Lacrimation abnormality	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000632	HP:0000632	Lacrimation abnormality	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0000632	HP:0000632	Lacrimation abnormality	0	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous		39
HP:0000632	HP:0000632	Lacrimation abnormality	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0000632	HP:0000632	Lacrimation abnormality	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0000632	HP:0000632	Lacrimation abnormality	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1		27
HP:0000632	HP:0000632	Lacrimation abnormality	0	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria		217
HP:0000632	HP:0000632	Lacrimation abnormality	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1		17
HP:0000632	HP:0000632	Lacrimation abnormality	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0000632	HP:0000632	Lacrimation abnormality	0	OVOL2 CL E G H	58495	15804	OMIM:122000	Corneal dystrophy, posterior polymorphous, 1		4
HP:0000632	HP:0000632	Lacrimation abnormality	0	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare	4
HP:0000632	HP:0000632	Lacrimation abnormality	0	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6		26
HP:0000632	HP:0000632	Lacrimation abnormality	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000632	HP:0000632	Lacrimation abnormality	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent	59
HP:0000632	HP:0000632	Lacrimation abnormality	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000632	HP:0000632	Lacrimation abnormality	0	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII		6
HP:0000632	HP:0000632	Lacrimation abnormality	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000632	HP:0000632	Lacrimation abnormality	0	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder	.	318
HP:0000632	HP:0000632	Lacrimation abnormality	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome		129
HP:0000632	HP:0000632	Lacrimation abnormality	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0000632	HP:0000632	Lacrimation abnormality	0	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10		48
HP:0000632	HP:0000632	Lacrimation abnormality	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0000632	HP:0000632	Lacrimation abnormality	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0000632	HP:0000632	Lacrimation abnormality	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000632	HP:0000632	Lacrimation abnormality	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna		5
HP:0000632	HP:0000632	Lacrimation abnormality	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0000632	HP:0000632	Lacrimation abnormality	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease		61
HP:0000632	HP:0000632	Lacrimation abnormality	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0000632	HP:0000632	Lacrimation abnormality	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000632	HP:0000632	Lacrimation abnormality	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000632	HP:0000632	Lacrimation abnormality	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0000632	HP:0000632	Lacrimation abnormality	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000632	HP:0000632	Lacrimation abnormality	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040281 - Very frequent	140
HP:0000632	HP:0000632	Lacrimation abnormality	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18		27
HP:0000632	HP:0000632	Lacrimation abnormality	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040283 - Occasional	7
HP:0000632	HP:0000632	Lacrimation abnormality	0	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0000632	HP:0000632	Lacrimation abnormality	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040282 - Frequent	25
HP:0000632	HP:0000632	Lacrimation abnormality	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000632	HP:0000632	Lacrimation abnormality	0	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare	47
HP:0000632	HP:0000632	Lacrimation abnormality	0	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare	8
HP:0000632	HP:0000633	Decreased lacrimation	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0000632	HP:0000633	Decreased lacrimation	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	HP:0040283 - Occasional	132
HP:0000632	HP:0000633	Decreased lacrimation	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness	.
HP:0000632	HP:0009926	Epiphora	1	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0000632	HP:0000633	Decreased lacrimation	1	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0000632	HP:0009926	Epiphora	1	COL17A1 CL E G H	1308	2194	OMIM:122400	Epithelial recurrent erosion dystrophy	.	129
HP:0000632	HP:0009926	Epiphora	1	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy	HP:0040283 - Occasional	129
HP:0000632	HP:0009926	Epiphora	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0000632	HP:0000633	Decreased lacrimation	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0000632	HP:0000633	Decreased lacrimation	1	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia		133
HP:0000632	HP:0000633	Decreased lacrimation	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0000632	HP:0000633	Decreased lacrimation	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	158
HP:0000632	HP:0000633	Decreased lacrimation	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	199
HP:0000632	HP:0000633	Decreased lacrimation	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0000632	HP:0000633	Decreased lacrimation	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0000632	HP:0000633	Decreased lacrimation	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	55
HP:0000632	HP:0100274	Gustatory lacrimation	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0000632	HP:0009926	Epiphora	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	17
HP:0000632	HP:0000633	Decreased lacrimation	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0000632	HP:0000633	Decreased lacrimation	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0000632	HP:0009926	Epiphora	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	175
HP:0000632	HP:0000633	Decreased lacrimation	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0000632	HP:0009926	Epiphora	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	145
HP:0000632	HP:0000633	Decreased lacrimation	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040282 - Frequent	92
HP:0000632	HP:0009926	Epiphora	1	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous		109
HP:0000632	HP:0000633	Decreased lacrimation	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0000632	HP:0009926	Epiphora	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.	2
HP:0000632	HP:0009926	Epiphora	1	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect		3
HP:0000632	HP:0009926	Epiphora	1	KRT12 CL E G H	3859	6414	OMIM:122100	Meesmann corneal dystrophy 1	.	22
HP:0000632	HP:0009926	Epiphora	1	KRT3 CL E G H	3850	6440	OMIM:618767	CORNEAL DYSTROPHY, MEESMANN, 2; MECD2		3
HP:0000632	HP:0000633	Decreased lacrimation	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0000632	HP:0009926	Epiphora	1	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans		4
HP:0000632	HP:0000633	Decreased lacrimation	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0000632	HP:0000633	Decreased lacrimation	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0000632	HP:0000633	Decreased lacrimation	1	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent	140
HP:0000632	HP:0009926	Epiphora	1	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous		39
HP:0000632	HP:0000633	Decreased lacrimation	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent	32
HP:0000632	HP:0000633	Decreased lacrimation	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0000632	HP:0009926	Epiphora	1	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	27
HP:0000632	HP:0009926	Epiphora	1	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria	.	217
HP:0000632	HP:0009926	Epiphora	1	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	17
HP:0000632	HP:0009926	Epiphora	1	OVOL2 CL E G H	58495	15804	OMIM:122000	Corneal dystrophy, posterior polymorphous, 1		4
HP:0000632	HP:0009926	Epiphora	1	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6		26
HP:0000632	HP:0000633	Decreased lacrimation	1	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000632	HP:0000633	Decreased lacrimation	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000632	HP:0000633	Decreased lacrimation	1	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII		6
HP:0000632	HP:0009926	Epiphora	1	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040283 - Occasional	129
HP:0000632	HP:0009926	Epiphora	1	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10	.	48
HP:0000632	HP:0000633	Decreased lacrimation	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0000632	HP:0100274	Gustatory lacrimation	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0000632	HP:0000633	Decreased lacrimation	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000632	HP:0009926	Epiphora	1	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	HP:0040284 - Very rare	5
HP:0000632	HP:0000633	Decreased lacrimation	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0000632	HP:0000633	Decreased lacrimation	1	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040282 - Frequent	61
HP:0000632	HP:0009926	Epiphora	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1
HP:0000632	HP:0009926	Epiphora	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.	60
HP:0000632	HP:0000633	Decreased lacrimation	1	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18		27
HP:0000632	HP:0009926	Epiphora	1	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0000632	HP:0031881	Decreased tear drainage	2	CL E G H
HP:0000632	HP:0031734	Lacrimal pump failure	2	CL E G H
HP:0000632	HP:0031731	Increased tear production	2	CL E G H
HP:0000632	HP:0000522	Alacrima	2	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0000632	HP:0000522	Alacrima	2	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0000632	HP:0000522	Alacrima	2	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	.	108
HP:0000632	HP:0000522	Alacrima	2	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040281 - Very frequent	133
HP:0000632	HP:0000522	Alacrima	2	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0000632	HP:0000522	Alacrima	2	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0000632	HP:0000522	Alacrima	2	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0000632	HP:0000522	Alacrima	2	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0000632	HP:0000522	Alacrima	2	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	.	24
HP:0000632	HP:0000522	Alacrima	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0000632	HP:0000522	Alacrima	2	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0000632	HP:0000522	Alacrima	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0000632	HP:0000522	Alacrima	2	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000632	HP:0000522	Alacrima	2	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000632	HP:0000522	Alacrima	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0000632	HP:0000522	Alacrima	2	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000632	HP:0000522	Alacrima	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0000632	HP:0000522	Alacrima	2	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	HP:0040283 - Occasional	27
HP:0000632	HP:0031733	Reflex tearing	3	CL E G H
HP:0000632	HP:0031732	Increased basal tear production	3	CL E G H