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:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma		833
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type		79
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type		79
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia		222
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome		145
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040281 - Very frequent	217
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma		365
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma		911
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3		214
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0006490	HP:0006490	Abnormal lower-limb metaphysis morphology	0	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type		2
HP:0006490	HP:0006491	Abnormal tibial metaphysis morphology	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0006490	HP:0006489	Abnormal femoral metaphysis morphology	1	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0006490	HP:0006489	Abnormal femoral metaphysis morphology	1	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma	HP:0040281 - Very frequent	833
HP:0006490	HP:0006491	Abnormal tibial metaphysis morphology	1	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent	833
HP:0006490	HP:0006489	Abnormal femoral metaphysis morphology	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type		79
HP:0006490	HP:0006489	Abnormal femoral metaphysis morphology	1	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type		79
HP:0006490	HP:0006489	Abnormal femoral metaphysis morphology	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia		222
HP:0006490	HP:0006489	Abnormal femoral metaphysis morphology	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0006490	HP:0006489	Abnormal femoral metaphysis morphology	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0006490	HP:0006489	Abnormal femoral metaphysis morphology	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0006490	HP:0006489	Abnormal femoral metaphysis morphology	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0006490	HP:0006489	Abnormal femoral metaphysis morphology	1	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome		145
HP:0006490	HP:0006489	Abnormal femoral metaphysis morphology	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0006490	HP:0006489	Abnormal femoral metaphysis morphology	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional	88
HP:0006490	HP:0006489	Abnormal femoral metaphysis morphology	1	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma	HP:0040281 - Very frequent	365
HP:0006490	HP:0006491	Abnormal tibial metaphysis morphology	1	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent	365
HP:0006490	HP:0006489	Abnormal femoral metaphysis morphology	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0006490	HP:0006489	Abnormal femoral metaphysis morphology	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0006490	HP:0006489	Abnormal femoral metaphysis morphology	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0006490	HP:0006489	Abnormal femoral metaphysis morphology	1	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma	HP:0040281 - Very frequent	911
HP:0006490	HP:0006491	Abnormal tibial metaphysis morphology	1	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent	911
HP:0006490	HP:0006489	Abnormal femoral metaphysis morphology	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0006490	HP:0006489	Abnormal femoral metaphysis morphology	1	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3		214
HP:0006490	HP:0006489	Abnormal femoral metaphysis morphology	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0006490	HP:0006489	Abnormal femoral metaphysis morphology	1	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type		2
HP:0006490	HP:0041114	Fractured metaphysis of femur	2	CL E G H
HP:0006490	HP:0006413	Broad tibial metaphyses	2	CL E G H
HP:0006490	HP:0006423	Peg-like central prominence of distal tibial metaphyses	2	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0006490	HP:0006431	Proximal femoral metaphyseal abnormality	2	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0006490	HP:0030299	Distal femoral metaphyseal abnormality	2	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040281 - Very frequent	79
HP:0006490	HP:0006431	Proximal femoral metaphyseal abnormality	2	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.	79
HP:0006490	HP:0006431	Proximal femoral metaphyseal abnormality	2	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040281 - Very frequent	79
HP:0006490	HP:0002834	Flared femoral metaphysis	2	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional	222
HP:0006490	HP:0002834	Flared femoral metaphysis	2	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0006490	HP:0006431	Proximal femoral metaphyseal abnormality	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0006490	HP:0006431	Proximal femoral metaphyseal abnormality	2	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0006490	HP:0002834	Flared femoral metaphysis	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0006490	HP:0030299	Distal femoral metaphyseal abnormality	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0006490	HP:0006417	Broad femoral metaphyses	2	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome	.	145
HP:0006490	HP:0006431	Proximal femoral metaphyseal abnormality	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0006490	HP:0006431	Proximal femoral metaphyseal abnormality	2	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0006490	HP:0030299	Distal femoral metaphyseal abnormality	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0006490	HP:0006431	Proximal femoral metaphyseal abnormality	2	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0006490	HP:0006431	Proximal femoral metaphyseal abnormality	2	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3		214
HP:0006490	HP:0002834	Flared femoral metaphysis	2	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.	214
HP:0006490	HP:0006417	Broad femoral metaphyses	2	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type		2
HP:0006490	HP:0006431	Proximal femoral metaphyseal abnormality	2	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type		2
HP:0006490	HP:0003411	Proximal femoral metaphyseal irregularity	3	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0006490	HP:0003411	Proximal femoral metaphyseal irregularity	3	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040282 - Frequent	79
HP:0006490	HP:0003411	Proximal femoral metaphyseal irregularity	3	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0006490	HP:0003411	Proximal femoral metaphyseal irregularity	3	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0006490	HP:0006387	Wide distal femoral metaphysis	3	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0006490	HP:0003411	Proximal femoral metaphyseal irregularity	3	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0006490	HP:0003411	Proximal femoral metaphyseal irregularity	3	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0006490	HP:0006387	Wide distal femoral metaphysis	3	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0006490	HP:0003411	Proximal femoral metaphyseal irregularity	3	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0006490	HP:0003411	Proximal femoral metaphyseal irregularity	3	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3	.	214
HP:0006490	HP:0008783	Wide proximal femoral metaphysis	3	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type	.	2