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:0009809	HP:0009809	Abnormal upper limb metaphysis morphology	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0009809	HP:0009809	Abnormal upper limb metaphysis morphology	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type		79
HP:0009809	HP:0009809	Abnormal upper limb metaphysis morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis		284
HP:0009809	HP:0009809	Abnormal upper limb metaphysis morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type		284
HP:0009809	HP:0009809	Abnormal upper limb metaphysis morphology	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0009809	HP:0009809	Abnormal upper limb metaphysis morphology	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0009809	HP:0009809	Abnormal upper limb metaphysis morphology	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B		101
HP:0009809	HP:0009809	Abnormal upper limb metaphysis morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation		63
HP:0009809	HP:0009809	Abnormal upper limb metaphysis morphology	0	MMP13 CL E G H	4322	7159	ORPHA:1040	Metaphyseal anadysplasia		52
HP:0009809	HP:0009809	Abnormal upper limb metaphysis morphology	0	MMP9 CL E G H	4318	7176	ORPHA:1040	Metaphyseal anadysplasia		31
HP:0009809	HP:0009809	Abnormal upper limb metaphysis morphology	0	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0009809	HP:0009809	Abnormal upper limb metaphysis morphology	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia		217
HP:0009809	HP:0009809	Abnormal upper limb metaphysis morphology	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2		445
HP:0009809	HP:0009809	Abnormal upper limb metaphysis morphology	0	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0009809	HP:0009809	Abnormal upper limb metaphysis morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation		37
HP:0009809	HP:0009809	Abnormal upper limb metaphysis morphology	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B		86
HP:0009809	HP:0009809	Abnormal upper limb metaphysis morphology	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda		46
HP:0009809	HP:0009809	Abnormal upper limb metaphysis morphology	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0009809	HP:0009809	Abnormal upper limb metaphysis morphology	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0009809	HP:0003852	Normal density transverse bands in metaphyses of the upper limbs	1	CL E G H
HP:0009809	HP:0003851	Lytic defects in metaphyses of the upper limbs	1	CL E G H
HP:0009809	HP:0003848	Cupped metaphyses of the upper limbs	1	CL E G H
HP:0009809	HP:0003949	Abnormal elbow metaphysis morphology	1	CL E G H
HP:0009809	HP:0003854	Sclerosis of metaphyses of the upper limbs	1	CL E G H
HP:0009809	HP:0004039	Abnormal ulnar metaphysis morphology	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040284 - Very rare	2
HP:0009809	HP:0004039	Abnormal ulnar metaphysis morphology	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type		79
HP:0009809	HP:0004015	Abnormal radial metaphysis morphology	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type		79
HP:0009809	HP:0005923	Abnormal hand metaphysis morphology	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040282 - Frequent	79
HP:0009809	HP:0003850	Upper-limb metaphyseal irregularity	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type		79
HP:0009809	HP:0004039	Abnormal ulnar metaphysis morphology	1	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040282 - Frequent	284
HP:0009809	HP:0005923	Abnormal hand metaphysis morphology	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional	284
HP:0009809	HP:0004015	Abnormal radial metaphysis morphology	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0009809	HP:0004039	Abnormal ulnar metaphysis morphology	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0009809	HP:0003850	Upper-limb metaphyseal irregularity	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0009809	HP:0003856	Upper limb metaphyseal widening	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0009809	HP:0003907	Abnormal humeral metaphysis morphology	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0009809	HP:0003907	Abnormal humeral metaphysis morphology	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B		101
HP:0009809	HP:0004039	Abnormal ulnar metaphysis morphology	1	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040283 - Occasional	63
HP:0009809	HP:0004039	Abnormal ulnar metaphysis morphology	1	MMP13 CL E G H	4322	7159	ORPHA:1040	Metaphyseal anadysplasia	HP:0040281 - Very frequent	52
HP:0009809	HP:0004039	Abnormal ulnar metaphysis morphology	1	MMP9 CL E G H	4318	7176	ORPHA:1040	Metaphyseal anadysplasia	HP:0040281 - Very frequent	31
HP:0009809	HP:0004039	Abnormal ulnar metaphysis morphology	1	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040283 - Occasional
HP:0009809	HP:0003856	Upper limb metaphyseal widening	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent	217
HP:0009809	HP:0004039	Abnormal ulnar metaphysis morphology	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional	445
HP:0009809	HP:0003850	Upper-limb metaphyseal irregularity	1	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0009809	HP:0004039	Abnormal ulnar metaphysis morphology	1	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040283 - Occasional	37
HP:0009809	HP:0003907	Abnormal humeral metaphysis morphology	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B		86
HP:0009809	HP:0003855	Spurred metaphyses of the upper limbs	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent	46
HP:0009809	HP:0003856	Upper limb metaphyseal widening	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0009809	HP:0003907	Abnormal humeral metaphysis morphology	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0009809	HP:0003907	Abnormal humeral metaphysis morphology	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional	214
HP:0009809	HP:0004046	Spurred ulnar metaphysis	2	CL E G H
HP:0009809	HP:0003915	Lytic defects of the humeral metaphysis	2	CL E G H
HP:0009809	HP:0004025	Spurred radial metaphysis	2	CL E G H
HP:0009809	HP:0004045	Sloping ulnar metaphysis	2	CL E G H
HP:0009809	HP:0003914	Irregular ossification of humeral metaphyses	2	CL E G H
HP:0009809	HP:0004018	Flared radial metaphysis	2	CL E G H
HP:0009809	HP:0003920	Sloping humeral metaphysis	2	CL E G H
HP:0009809	HP:0003950	Flared elbow metaphyses	2	CL E G H
HP:0009809	HP:0004044	Pointed ulnar metaphysis	2	CL E G H
HP:0009809	HP:0003913	Humeral metaphyseal irregularity	2	CL E G H
HP:0009809	HP:0004017	Exostoses of the radial metaphysis	2	CL E G H
HP:0009809	HP:0004023	Sloping radial metaphysis	2	CL E G H
HP:0009809	HP:0003912	Frayed humeral metaphyses	2	CL E G H
HP:0009809	HP:0004043	Lytic defects of ulnar metaphysis	2	CL E G H
HP:0009809	HP:0004016	Cupped radial metaphyses	2	CL E G H
HP:0009809	HP:0003918	Sclerotic humeral metaphysis	2	CL E G H
HP:0009809	HP:0004022	Sclerotic radial metaphysis with longitudinal striations	2	CL E G H
HP:0009809	HP:0003924	Stippled calcification of humeral metaphysis	2	CL E G H
HP:0009809	HP:0003910	Enlarged humeral metaphyses	2	CL E G H
HP:0009809	HP:0004041	Cupped ulnar metaphysis	2	CL E G H
HP:0009809	HP:0003952	Sclerotic foci of metaphyses of the elbow	2	CL E G H
HP:0009809	HP:0004273	Cupped metaphyses of hand bones	2	CL E G H
HP:0009809	HP:0003917	Pointed humeral metaphysis	2	CL E G H
HP:0009809	HP:0004021	Lytic defects of radial metaphysis	2	CL E G H
HP:0009809	HP:0003923	Square humeral metaphysis	2	CL E G H
HP:0009809	HP:0004040	Corner fragments of ulnar metaphysis	2	CL E G H
HP:0009809	HP:0004047	Wide ulnar metaphysis	2	CL E G H
HP:0009809	HP:0003916	Normal-density transverse humeral bands	2	CL E G H
HP:0009809	HP:0004020	Irregular ossification of the radial metaphysis	2	CL E G H
HP:0009809	HP:0003922	Spurred humeral metaphysis	2	CL E G H
HP:0009809	HP:0004026	Broad radial metaphysis	2	CL E G H
HP:0009809	HP:0003853	Sclerosis with transverse striations in metaphyses of the upper limbs	2	CL E G H
HP:0009809	HP:0003951	Distal humeral metaphyseal irregularity	2	CL E G H
HP:0009809	HP:0004042	Ulnar metaphyseal irregularity	2	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040283 - Occasional	79
HP:0009809	HP:0004019	Radial metaphyseal irregularity	2	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040283 - Occasional	79
HP:0009809	HP:0004019	Radial metaphyseal irregularity	2	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0009809	HP:0004042	Ulnar metaphyseal irregularity	2	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0009809	HP:0003849	Flared upper limb metaphysis	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0009809	HP:0003911	Flared humeral metaphysis	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0009809	HP:0003909	Cortical subperiosteal resorption of humeral metaphyses	2	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	101
HP:0009809	HP:0003909	Cortical subperiosteal resorption of humeral metaphyses	2	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	86
HP:0009809	HP:0003849	Flared upper limb metaphysis	2	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0009809	HP:0003911	Flared humeral metaphysis	2	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.	214
HP:0009809	HP:0004018	Flared radial metaphysis	3	CL E G H
HP:0009809	HP:0003921	Laterally sloping humeral metaphysis	3	CL E G H
HP:0009809	HP:0003950	Flared elbow metaphyses	3	CL E G H
HP:0009809	HP:0004024	Medially sloping radial metaphysis	3	CL E G H
HP:0009809	HP:0005825	Mixed sclerosis of humeral metaphyses	3	CL E G H
HP:0009809	HP:0003919	Sclerotic humeral metaphysis with longitudinal striations	3	CL E G H
HP:0009809	HP:0005043	Proximal humeral metaphyseal irregularity	3	CL E G H
HP:0009809	HP:0003951	Distal humeral metaphyseal irregularity	3	CL E G H
HP:0009809	HP:0003911	Flared humeral metaphysis	3	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0009809	HP:0003911	Flared humeral metaphysis	3	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.	214