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:0003651	HP:0003651	Foam cells	0	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease		39
HP:0003651	HP:0003651	Foam cells	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0003651	HP:0003651	Foam cells	0	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040283 - Occasional	15
HP:0003651	HP:0003651	Foam cells	0	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040283 - Occasional	17
HP:0003651	HP:0003651	Foam cells	0	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III	.	120
HP:0003651	HP:0003651	Foam cells	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040282 - Frequent	2
HP:0003651	HP:0003651	Foam cells	0	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency	.	26
HP:0003651	HP:0003651	Foam cells	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0003651	HP:0003651	Foam cells	0	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease		73
HP:0003651	HP:0003651	Foam cells	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency		43
HP:0003651	HP:0003651	Foam cells	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.	258
HP:0003651	HP:0003651	Foam cells	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.	33
HP:0003651	HP:0003651	Foam cells	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0003651	HP:0003651	Foam cells	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0003651	HP:0003651	Foam cells	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0003651	HP:0003651	Foam cells	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0003651	HP:0032583	Renal glomerular foam cells	1	CL E G H
HP:0003651	HP:0032582	Renal interstitial foam cells	1	CL E G H
HP:0003651	HP:0003640	CNS foam cells	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040282 - Frequent	78
HP:0003651	HP:0034029	Hepatic foam cells	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0003651	HP:0004333	Bone-marrow foam cells	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency	.	73
HP:0003651	HP:0004333	Bone-marrow foam cells	1	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease	HP:0040283 - Occasional	73
HP:0003651	HP:0004333	Bone-marrow foam cells	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.	43
HP:0003651	HP:0004333	Bone-marrow foam cells	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.	258
HP:0003651	HP:0003640	CNS foam cells	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0003651	HP:0004333	Bone-marrow foam cells	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.	33
HP:0003651	HP:0003640	CNS foam cells	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0003651	HP:0003609	Foam cells with lamellar inclusion bodies	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0003651	HP:0003609	Foam cells with lamellar inclusion bodies	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.	164
HP:0003651	HP:0004333	Bone-marrow foam cells	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.	164
HP:0003651	HP:0004333	Bone-marrow foam cells	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.	164
HP:0003651	HP:0003609	Foam cells with lamellar inclusion bodies	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.	164