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:0031640	HP:0031640	Abnormal radial artery morphology	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0031640	HP:0031640	Abnormal radial artery morphology	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0031640	HP:0020118	Radial artery aplasia	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0031640	HP:0020118	Radial artery aplasia	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	29
HP:0031640	HP:0020118	Radial artery aplasia	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0031640	HP:0020118	Radial artery aplasia	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0031640	HP:0020118	Radial artery aplasia	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0031640	HP:0020118	Radial artery aplasia	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0031640	HP:0020118	Radial artery aplasia	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0031640	HP:0020118	Radial artery aplasia	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0031640	HP:0020118	Radial artery aplasia	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0031640	HP:0020118	Radial artery aplasia	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	11
HP:0031640	HP:0020118	Radial artery aplasia	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	40
HP:0031640	HP:0020118	Radial artery aplasia	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	26
HP:0031640	HP:0020118	Radial artery aplasia	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0031640	HP:0020118	Radial artery aplasia	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	5
HP:0031640	HP:0020118	Radial artery aplasia	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	42
HP:0031640	HP:0020118	Radial artery aplasia	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0031640	HP:0020118	Radial artery aplasia	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0031640	HP:0020118	Radial artery aplasia	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0031640	HP:0020118	Radial artery aplasia	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0031640	HP:0020118	Radial artery aplasia	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0031640	HP:0020118	Radial artery aplasia	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0031640	HP:0020118	Radial artery aplasia	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0031640	HP:0020118	Radial artery aplasia	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1