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:0000943	HP:0000943	Dysostosis multiplex	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0000943	HP:0000943	Dysostosis multiplex	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0000943	HP:0000943	Dysostosis multiplex	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis	.	51
HP:0000943	HP:0000943	Dysostosis multiplex	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040283 - Occasional	172
HP:0000943	HP:0000943	Dysostosis multiplex	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040281 - Very frequent	43
HP:0000943	HP:0000943	Dysostosis multiplex	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0000943	HP:0000943	Dysostosis multiplex	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0000943	HP:0000943	Dysostosis multiplex	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040282 - Frequent	120
HP:0000943	HP:0000943	Dysostosis multiplex	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0000943	HP:0000943	Dysostosis multiplex	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0000943	HP:0000943	Dysostosis multiplex	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0000943	HP:0000943	Dysostosis multiplex	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.	240
HP:0000943	HP:0000943	Dysostosis multiplex	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.	57
HP:0000943	HP:0000943	Dysostosis multiplex	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0000943	HP:0000943	Dysostosis multiplex	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0000943	HP:0000943	Dysostosis multiplex	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0000943	HP:0000943	Dysostosis multiplex	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0000943	HP:0000943	Dysostosis multiplex	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0000943	HP:0000943	Dysostosis multiplex	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.	115
HP:0000943	HP:0000943	Dysostosis multiplex	0	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome	HP:0040283 - Occasional	115
HP:0000943	HP:0000943	Dysostosis multiplex	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040283 - Occasional	196
HP:0000943	HP:0000943	Dysostosis multiplex	0	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0000943	HP:0000943	Dysostosis multiplex	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0000943	HP:0000943	Dysostosis multiplex	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040281 - Very frequent	136
HP:0000943	HP:0000943	Dysostosis multiplex	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.	72
HP:0000943	HP:0000943	Dysostosis multiplex	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040282 - Frequent	43
HP:0000943	HP:0000943	Dysostosis multiplex	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040281 - Very frequent	43
HP:0000943	HP:0000943	Dysostosis multiplex	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.	43
HP:0000943	HP:0000943	Dysostosis multiplex	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent	43
HP:0000943	HP:0000943	Dysostosis multiplex	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.	97
HP:0000943	HP:0000943	Dysostosis multiplex	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.	80
HP:0000943	HP:0000943	Dysostosis multiplex	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040281 - Very frequent	1
HP:0000943	HP:0000943	Dysostosis multiplex	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1