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:0010471	HP:0010471	Oligosacchariduria	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0010471	HP:0010471	Oligosacchariduria	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040281 - Very frequent	407
HP:0010471	HP:0010471	Oligosacchariduria	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1		120
HP:0010471	HP:0010471	Oligosacchariduria	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040281 - Very frequent	136
HP:0010471	HP:0010471	Oligosacchariduria	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040281 - Very frequent	136
HP:0010471	HP:0010471	Oligosacchariduria	0	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL		55
HP:0010471	HP:0010471	Oligosacchariduria	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency		43
HP:0010471	HP:0010471	Oligosacchariduria	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1		43
HP:0010471	HP:0010471	Oligosacchariduria	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0010471	HP:0010471	Oligosacchariduria	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional	14
HP:0010471	HP:0010471	Oligosacchariduria	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20		14
HP:0010471	HP:0410350	Increased urinary fucosylated oligosaccharide	1	CL E G H
HP:0010471	HP:0410348	Increased urinary multiantennary sialylated oligosaccharide	1	CL E G H
HP:0010471	HP:0410347	Increased urinary high-mannose-type oligosaccharide	1	CL E G H
HP:0010471	HP:0410345	Increased urinary polyhexose	1	CL E G H
HP:0010471	HP:0410346	Increased urinary galactosylated oligosaccharide	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040281 - Very frequent	120
HP:0010471	HP:0012066	Increased urinary disaccharide excretion	1	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL	.	55
HP:0010471	HP:0012061	Urinary excretion of sialylated oligosaccharides	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.	43
HP:0010471	HP:0012061	Urinary excretion of sialylated oligosaccharides	1	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent	43