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:0006508	HP:0006508	Abnormality of tibial epiphyses	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0006508	HP:0006508	Abnormality of tibial epiphyses	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional	284
HP:0006508	HP:0006508	Abnormality of tibial epiphyses	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0006508	HP:0006508	Abnormality of tibial epiphyses	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0006508	HP:0006508	Abnormality of tibial epiphyses	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0006508	HP:0010592	Abnormality of the distal tibial epiphysis	1	CL E G H
HP:0006508	HP:0010591	Abnormality of the proximal tibial epiphysis	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0006508	HP:0010591	Abnormality of the proximal tibial epiphysis	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0006508	HP:0010591	Abnormality of the proximal tibial epiphysis	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0006508	HP:0010591	Abnormality of the proximal tibial epiphysis	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0006508	HP:0012284	Small proximal tibial epiphyses	2	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0006508	HP:0006456	Irregular proximal tibial epiphyses	2	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0006508	HP:0012284	Small proximal tibial epiphyses	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0006508	HP:0012284	Small proximal tibial epiphyses	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0006508	HP:0012284	Small proximal tibial epiphyses	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional