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:0012306	HP:0012306	Abnormal rib ossification	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0012306	HP:0012306	Abnormal rib ossification	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type		79
HP:0012306	HP:0012306	Abnormal rib ossification	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0012306	HP:0012306	Abnormal rib ossification	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0012306	HP:0012306	Abnormal rib ossification	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0012306	HP:0012306	Abnormal rib ossification	0	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia		70
HP:0012306	HP:0012306	Abnormal rib ossification	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0012306	HP:0012306	Abnormal rib ossification	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0012306	HP:0012306	Abnormal rib ossification	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia		166
HP:0012306	HP:0012306	Abnormal rib ossification	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0012306	HP:0006607	Precocious costochondral ossification	1	CL E G H
HP:0012306	HP:0006615	Absent in utero rib ossification	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0012306	HP:0006634	Osteosclerosis of ribs	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040282 - Frequent	79
HP:0012306	HP:0006598	Irregular ossification at anterior rib ends	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0012306	HP:0006619	Anterior rib punctate calcifications	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0012306	HP:0006619	Anterior rib punctate calcifications	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0012306	HP:0006619	Anterior rib punctate calcifications	1	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040281 - Very frequent	70
HP:0012306	HP:0006646	Costal cartilage calcification	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0012306	HP:0006646	Costal cartilage calcification	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0012306	HP:0006598	Irregular ossification at anterior rib ends	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0012306	HP:0006646	Costal cartilage calcification	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.	166
HP:0012306	HP:0006598	Irregular ossification at anterior rib ends	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.