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:0100593	HP:0100593	Calcification of cartilage	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0100593	HP:0100593	Calcification of cartilage	0	ANKH CL E G H	56172	15492	ORPHA:1416	Familial calcium pyrophosphate deposition	HP:0040281 - Very frequent	164
HP:0100593	HP:0100593	Calcification of cartilage	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type		45
HP:0100593	HP:0100593	Calcification of cartilage	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0100593	HP:0100593	Calcification of cartilage	0	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040281 - Very frequent	77
HP:0100593	HP:0100593	Calcification of cartilage	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0100593	HP:0100593	Calcification of cartilage	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040281 - Very frequent	33
HP:0100593	HP:0100593	Calcification of cartilage	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0100593	HP:0100593	Calcification of cartilage	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)		82
HP:0100593	HP:0100593	Calcification of cartilage	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0100593	HP:0100593	Calcification of cartilage	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia		166
HP:0100593	HP:0100593	Calcification of cartilage	0	TNFRSF11B CL E G H	4982	11909	ORPHA:1416	Familial calcium pyrophosphate deposition	HP:0040281 - Very frequent	44
HP:0100593	HP:0100593	Calcification of cartilage	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome		17
HP:0100593	HP:0100593	Calcification of cartilage	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0100593	HP:0005103	Calcification of the auricular cartilage	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	415
HP:0100593	HP:0006600	Progressive calcification of costochondral cartilage	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0100593	HP:0005103	Calcification of the auricular cartilage	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	151
HP:0100593	HP:0006646	Costal cartilage calcification	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0100593	HP:0006646	Costal cartilage calcification	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0100593	HP:0005103	Calcification of the auricular cartilage	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0100593	HP:0002764	Stippled chondral calcification	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0100593	HP:0002764	Stippled chondral calcification	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0100593	HP:0006646	Costal cartilage calcification	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.	166
HP:0100593	HP:0005103	Calcification of the auricular cartilage	1	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040281 - Very frequent	17
HP:0100593	HP:0005103	Calcification of the auricular cartilage	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17