Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002896	HP:0002896	Neoplasm of the liver	0	BRCA1 CL E G H	672	1333	Chromosome 19, ring	CN036553	ORPHA	0	13955	1100	113705
HP:0002896	HP:0002896	Neoplasm of the liver	0	BRCA2 CL E G H	675	654	Ampola syndrome		ORPHA	0	17543	1101	600185
HP:0002896	HP:0002896	Neoplasm of the liver	0	BRCA2 CL E G H	675	1333	Chromosome 19, ring	CN036553	ORPHA	0	17543	1101	600185
HP:0002896	HP:0002896	Neoplasm of the liver	0	C11orf95 CL E G H	65998	251636			ORPHA	0		28449	615699
HP:0002896	HP:0002896	Neoplasm of the liver	0	CC2D2A CL E G H	57545	1454	Common atrioventricular canal	C0221215	ORPHA	0	1525	29253	612013
HP:0002896	HP:0002896	Neoplasm of the liver	0	CDKN2A CL E G H	1029	1333	Chromosome 19, ring	CN036553	ORPHA	0	1305	1787	600160
HP:0002896	HP:0002896	Neoplasm of the liver	0	DIS3L2 CL E G H	129563	654	Ampola syndrome		ORPHA	0	2008	28648	614184
HP:0002896	HP:0002896	Neoplasm of the liver	0	GPC3 CL E G H	2719	654	Ampola syndrome		ORPHA	0	989	4451	300037
HP:0002896	HP:0002896	Neoplasm of the liver	0	H19 CL E G H	283120	654	Ampola syndrome		ORPHA	0	61	4713	103280
HP:0002896	HP:0002896	Neoplasm of the liver	0	HBB CL E G H	3043	231222			ORPHA	0	1600	4827	141900
HP:0002896	HP:0002896	Neoplasm of the liver	0	HBB CL E G H	3043	231214			ORPHA	0	1600	4827	141900
HP:0002896	HP:0002896	Neoplasm of the liver	0	INPP5E CL E G H	56623	1454	Common atrioventricular canal	C0221215	ORPHA	0	782	21474	613037
HP:0002896	HP:0002896	Neoplasm of the liver	0	KRAS CL E G H	3845	1333	Chromosome 19, ring	CN036553	ORPHA	0	480	6407	190070
HP:0002896	HP:0002896	Neoplasm of the liver	0	MLH1 CL E G H	4292	587	Al Gazali Sabrinathan Nair syndrome		ORPHA	0	5122	7127	120436
HP:0002896	HP:0002896	Neoplasm of the liver	0	MSH2 CL E G H	4436	587	Al Gazali Sabrinathan Nair syndrome		ORPHA	0	6856	7325	609309
HP:0002896	HP:0002896	Neoplasm of the liver	0	MSH6 CL E G H	2956	587	Al Gazali Sabrinathan Nair syndrome		ORPHA	0	8438	7329	600678
HP:0002896	HP:0002896	Neoplasm of the liver	0	PALB2 CL E G H	79728	1333	Chromosome 19, ring	CN036553	ORPHA	0	5225	26144	610355
HP:0002896	HP:0002896	Neoplasm of the liver	0	PALLD CL E G H	23022	1333	Chromosome 19, ring	CN036553	ORPHA	0	1741	17068	608092
HP:0002896	HP:0002896	Neoplasm of the liver	0	POU6F2 CL E G H	11281	654	Ampola syndrome		ORPHA	0	88	21694	609062
HP:0002896	HP:0002896	Neoplasm of the liver	0	RELA CL E G H	5970	251636			ORPHA	0	275	9955	164014
HP:0002896	HP:0002896	Neoplasm of the liver	0	REST CL E G H	5978	654	Ampola syndrome		ORPHA	0	502	9966	600571
HP:0002896	HP:0002896	Neoplasm of the liver	0	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal	C0221215	ORPHA	0	1494	29168	610937
HP:0002896	HP:0002896	Neoplasm of the liver	0	SMAD4 CL E G H	4089	1333	Chromosome 19, ring	CN036553	ORPHA	0	1898	6770	600993
HP:0002896	HP:0002896	Neoplasm of the liver	0	TMEM67 CL E G H	91147	1454	Common atrioventricular canal	C0221215	ORPHA	0	928	28396	609884
HP:0002896	HP:0002896	Neoplasm of the liver	0	TP53 CL E G H	7157	1333	Chromosome 19, ring	CN036553	ORPHA	0	2977	11998	191170
HP:0002896	HP:0002896	Neoplasm of the liver	0	TRIM28 CL E G H	10155	654	Ampola syndrome		ORPHA	0	67	16384	601742
HP:0002896	HP:0002896	Neoplasm of the liver	0	TRIP13 CL E G H	9319	654	Ampola syndrome		ORPHA	0	228	12307	604507
HP:0002896	HP:0002896	Neoplasm of the liver	0	WT1 CL E G H	7490	654	Ampola syndrome		ORPHA	0	1371	12796	607102
HP:0002896	HP:0012028	Hepatocellular adenoma	1	BRCA1 CL E G H	672	1333	Chromosome 19, ring	CN036553	ORPHA	0	13955	1100	113705
HP:0002896	HP:0002884	Hepatoblastoma	1	BRCA1 CL E G H	672	1333	Chromosome 19, ring	CN036553	ORPHA	0	13955	1100	113705
HP:0002896	HP:0031207	Hepatic hemangioma	1	BRCA1 CL E G H	672	1333	Chromosome 19, ring	CN036553	ORPHA	0	13955	1100	113705
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	BRCA1 CL E G H	672	1333	Chromosome 19, ring	CN036553	ORPHA	0	13955	1100	113705
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	BRCA2 CL E G H	675	654	Ampola syndrome		ORPHA	0	17543	1101	600185
HP:0002896	HP:0012028	Hepatocellular adenoma	1	BRCA2 CL E G H	675	654	Ampola syndrome		ORPHA	0	17543	1101	600185
HP:0002896	HP:0002884	Hepatoblastoma	1	BRCA2 CL E G H	675	654	Ampola syndrome		ORPHA	0	17543	1101	600185
HP:0002896	HP:0031207	Hepatic hemangioma	1	BRCA2 CL E G H	675	654	Ampola syndrome		ORPHA	0	17543	1101	600185
HP:0002896	HP:0002884	Hepatoblastoma	1	BRCA2 CL E G H	675	1333	Chromosome 19, ring	CN036553	ORPHA	0	17543	1101	600185
HP:0002896	HP:0031207	Hepatic hemangioma	1	BRCA2 CL E G H	675	1333	Chromosome 19, ring	CN036553	ORPHA	0	17543	1101	600185
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	BRCA2 CL E G H	675	1333	Chromosome 19, ring	CN036553	ORPHA	0	17543	1101	600185
HP:0002896	HP:0012028	Hepatocellular adenoma	1	BRCA2 CL E G H	675	1333	Chromosome 19, ring	CN036553	ORPHA	0	17543	1101	600185
HP:0002896	HP:0031207	Hepatic hemangioma	1	C11orf95 CL E G H	65998	251636			ORPHA	0		28449	615699
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	C11orf95 CL E G H	65998	251636			ORPHA	0		28449	615699
HP:0002896	HP:0012028	Hepatocellular adenoma	1	C11orf95 CL E G H	65998	251636			ORPHA	0		28449	615699
HP:0002896	HP:0002884	Hepatoblastoma	1	C11orf95 CL E G H	65998	251636			ORPHA	0		28449	615699
HP:0002896	HP:0012028	Hepatocellular adenoma	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal	C0221215	ORPHA	0	1525	29253	612013
HP:0002896	HP:0002884	Hepatoblastoma	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal	C0221215	ORPHA	0	1525	29253	612013
HP:0002896	HP:0031207	Hepatic hemangioma	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal	C0221215	ORPHA	0	1525	29253	612013
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal	C0221215	ORPHA	0	1525	29253	612013
HP:0002896	HP:0031207	Hepatic hemangioma	1	CDKN2A CL E G H	1029	1333	Chromosome 19, ring	CN036553	ORPHA	0	1305	1787	600160
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	CDKN2A CL E G H	1029	1333	Chromosome 19, ring	CN036553	ORPHA	0	1305	1787	600160
HP:0002896	HP:0012028	Hepatocellular adenoma	1	CDKN2A CL E G H	1029	1333	Chromosome 19, ring	CN036553	ORPHA	0	1305	1787	600160
HP:0002896	HP:0002884	Hepatoblastoma	1	CDKN2A CL E G H	1029	1333	Chromosome 19, ring	CN036553	ORPHA	0	1305	1787	600160
HP:0002896	HP:0012028	Hepatocellular adenoma	1	DIS3L2 CL E G H	129563	654	Ampola syndrome		ORPHA	0	2008	28648	614184
HP:0002896	HP:0002884	Hepatoblastoma	1	DIS3L2 CL E G H	129563	654	Ampola syndrome		ORPHA	0	2008	28648	614184
HP:0002896	HP:0031207	Hepatic hemangioma	1	DIS3L2 CL E G H	129563	654	Ampola syndrome		ORPHA	0	2008	28648	614184
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	DIS3L2 CL E G H	129563	654	Ampola syndrome		ORPHA	0	2008	28648	614184
HP:0002896	HP:0002884	Hepatoblastoma	1	GPC3 CL E G H	2719	654	Ampola syndrome		ORPHA	0	989	4451	300037
HP:0002896	HP:0031207	Hepatic hemangioma	1	GPC3 CL E G H	2719	654	Ampola syndrome		ORPHA	0	989	4451	300037
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	GPC3 CL E G H	2719	654	Ampola syndrome		ORPHA	0	989	4451	300037
HP:0002896	HP:0012028	Hepatocellular adenoma	1	GPC3 CL E G H	2719	654	Ampola syndrome		ORPHA	0	989	4451	300037
HP:0002896	HP:0031207	Hepatic hemangioma	1	H19 CL E G H	283120	654	Ampola syndrome		ORPHA	0	61	4713	103280
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	H19 CL E G H	283120	654	Ampola syndrome		ORPHA	0	61	4713	103280
HP:0002896	HP:0012028	Hepatocellular adenoma	1	H19 CL E G H	283120	654	Ampola syndrome		ORPHA	0	61	4713	103280
HP:0002896	HP:0002884	Hepatoblastoma	1	H19 CL E G H	283120	654	Ampola syndrome		ORPHA	0	61	4713	103280
HP:0002896	HP:0002884	Hepatoblastoma	1	HBB CL E G H	3043	231222			ORPHA	0	1600	4827	141900
HP:0002896	HP:0012028	Hepatocellular adenoma	1	HBB CL E G H	3043	231214			ORPHA	0	1600	4827	141900
HP:0002896	HP:0031207	Hepatic hemangioma	1	HBB CL E G H	3043	231222			ORPHA	0	1600	4827	141900
HP:0002896	HP:0002884	Hepatoblastoma	1	HBB CL E G H	3043	231214			ORPHA	0	1600	4827	141900
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	HBB CL E G H	3043	231222			ORPHA	0	1600	4827	141900
HP:0002896	HP:0031207	Hepatic hemangioma	1	HBB CL E G H	3043	231214			ORPHA	0	1600	4827	141900
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	HBB CL E G H	3043	231214			ORPHA	0	1600	4827	141900
HP:0002896	HP:0012028	Hepatocellular adenoma	1	HBB CL E G H	3043	231222			ORPHA	0	1600	4827	141900
HP:0002896	HP:0002884	Hepatoblastoma	1	INPP5E CL E G H	56623	1454	Common atrioventricular canal	C0221215	ORPHA	0	782	21474	613037
HP:0002896	HP:0031207	Hepatic hemangioma	1	INPP5E CL E G H	56623	1454	Common atrioventricular canal	C0221215	ORPHA	0	782	21474	613037
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	INPP5E CL E G H	56623	1454	Common atrioventricular canal	C0221215	ORPHA	0	782	21474	613037
HP:0002896	HP:0012028	Hepatocellular adenoma	1	INPP5E CL E G H	56623	1454	Common atrioventricular canal	C0221215	ORPHA	0	782	21474	613037
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	KRAS CL E G H	3845	1333	Chromosome 19, ring	CN036553	ORPHA	0	480	6407	190070
HP:0002896	HP:0012028	Hepatocellular adenoma	1	KRAS CL E G H	3845	1333	Chromosome 19, ring	CN036553	ORPHA	0	480	6407	190070
HP:0002896	HP:0002884	Hepatoblastoma	1	KRAS CL E G H	3845	1333	Chromosome 19, ring	CN036553	ORPHA	0	480	6407	190070
HP:0002896	HP:0031207	Hepatic hemangioma	1	KRAS CL E G H	3845	1333	Chromosome 19, ring	CN036553	ORPHA	0	480	6407	190070
HP:0002896	HP:0012028	Hepatocellular adenoma	1	MLH1 CL E G H	4292	587	Al Gazali Sabrinathan Nair syndrome		ORPHA	0	5122	7127	120436
HP:0002896	HP:0002884	Hepatoblastoma	1	MLH1 CL E G H	4292	587	Al Gazali Sabrinathan Nair syndrome		ORPHA	0	5122	7127	120436
HP:0002896	HP:0031207	Hepatic hemangioma	1	MLH1 CL E G H	4292	587	Al Gazali Sabrinathan Nair syndrome		ORPHA	0	5122	7127	120436
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	MLH1 CL E G H	4292	587	Al Gazali Sabrinathan Nair syndrome		ORPHA	0	5122	7127	120436
HP:0002896	HP:0002884	Hepatoblastoma	1	MSH2 CL E G H	4436	587	Al Gazali Sabrinathan Nair syndrome		ORPHA	0	6856	7325	609309
HP:0002896	HP:0031207	Hepatic hemangioma	1	MSH2 CL E G H	4436	587	Al Gazali Sabrinathan Nair syndrome		ORPHA	0	6856	7325	609309
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	MSH2 CL E G H	4436	587	Al Gazali Sabrinathan Nair syndrome		ORPHA	0	6856	7325	609309
HP:0002896	HP:0012028	Hepatocellular adenoma	1	MSH2 CL E G H	4436	587	Al Gazali Sabrinathan Nair syndrome		ORPHA	0	6856	7325	609309
HP:0002896	HP:0031207	Hepatic hemangioma	1	MSH6 CL E G H	2956	587	Al Gazali Sabrinathan Nair syndrome		ORPHA	0	8438	7329	600678
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	MSH6 CL E G H	2956	587	Al Gazali Sabrinathan Nair syndrome		ORPHA	0	8438	7329	600678
HP:0002896	HP:0012028	Hepatocellular adenoma	1	MSH6 CL E G H	2956	587	Al Gazali Sabrinathan Nair syndrome		ORPHA	0	8438	7329	600678
HP:0002896	HP:0002884	Hepatoblastoma	1	MSH6 CL E G H	2956	587	Al Gazali Sabrinathan Nair syndrome		ORPHA	0	8438	7329	600678
HP:0002896	HP:0012028	Hepatocellular adenoma	1	PALB2 CL E G H	79728	1333	Chromosome 19, ring	CN036553	ORPHA	0	5225	26144	610355
HP:0002896	HP:0002884	Hepatoblastoma	1	PALB2 CL E G H	79728	1333	Chromosome 19, ring	CN036553	ORPHA	0	5225	26144	610355
HP:0002896	HP:0031207	Hepatic hemangioma	1	PALB2 CL E G H	79728	1333	Chromosome 19, ring	CN036553	ORPHA	0	5225	26144	610355
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	PALB2 CL E G H	79728	1333	Chromosome 19, ring	CN036553	ORPHA	0	5225	26144	610355
HP:0002896	HP:0002884	Hepatoblastoma	1	PALLD CL E G H	23022	1333	Chromosome 19, ring	CN036553	ORPHA	0	1741	17068	608092
HP:0002896	HP:0031207	Hepatic hemangioma	1	PALLD CL E G H	23022	1333	Chromosome 19, ring	CN036553	ORPHA	0	1741	17068	608092
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	PALLD CL E G H	23022	1333	Chromosome 19, ring	CN036553	ORPHA	0	1741	17068	608092
HP:0002896	HP:0012028	Hepatocellular adenoma	1	PALLD CL E G H	23022	1333	Chromosome 19, ring	CN036553	ORPHA	0	1741	17068	608092
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	POU6F2 CL E G H	11281	654	Ampola syndrome		ORPHA	0	88	21694	609062
HP:0002896	HP:0012028	Hepatocellular adenoma	1	POU6F2 CL E G H	11281	654	Ampola syndrome		ORPHA	0	88	21694	609062
HP:0002896	HP:0002884	Hepatoblastoma	1	POU6F2 CL E G H	11281	654	Ampola syndrome		ORPHA	0	88	21694	609062
HP:0002896	HP:0031207	Hepatic hemangioma	1	POU6F2 CL E G H	11281	654	Ampola syndrome		ORPHA	0	88	21694	609062
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	RELA CL E G H	5970	251636			ORPHA	0	275	9955	164014
HP:0002896	HP:0012028	Hepatocellular adenoma	1	RELA CL E G H	5970	251636			ORPHA	0	275	9955	164014
HP:0002896	HP:0002884	Hepatoblastoma	1	RELA CL E G H	5970	251636			ORPHA	0	275	9955	164014
HP:0002896	HP:0031207	Hepatic hemangioma	1	RELA CL E G H	5970	251636			ORPHA	0	275	9955	164014
HP:0002896	HP:0012028	Hepatocellular adenoma	1	REST CL E G H	5978	654	Ampola syndrome		ORPHA	0	502	9966	600571
HP:0002896	HP:0002884	Hepatoblastoma	1	REST CL E G H	5978	654	Ampola syndrome		ORPHA	0	502	9966	600571
HP:0002896	HP:0031207	Hepatic hemangioma	1	REST CL E G H	5978	654	Ampola syndrome		ORPHA	0	502	9966	600571
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	REST CL E G H	5978	654	Ampola syndrome		ORPHA	0	502	9966	600571
HP:0002896	HP:0031207	Hepatic hemangioma	1	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal	C0221215	ORPHA	0	1494	29168	610937
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal	C0221215	ORPHA	0	1494	29168	610937
HP:0002896	HP:0012028	Hepatocellular adenoma	1	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal	C0221215	ORPHA	0	1494	29168	610937
HP:0002896	HP:0002884	Hepatoblastoma	1	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal	C0221215	ORPHA	0	1494	29168	610937
HP:0002896	HP:0031207	Hepatic hemangioma	1	SMAD4 CL E G H	4089	1333	Chromosome 19, ring	CN036553	ORPHA	0	1898	6770	600993
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	SMAD4 CL E G H	4089	1333	Chromosome 19, ring	CN036553	ORPHA	0	1898	6770	600993
HP:0002896	HP:0012028	Hepatocellular adenoma	1	SMAD4 CL E G H	4089	1333	Chromosome 19, ring	CN036553	ORPHA	0	1898	6770	600993
HP:0002896	HP:0002884	Hepatoblastoma	1	SMAD4 CL E G H	4089	1333	Chromosome 19, ring	CN036553	ORPHA	0	1898	6770	600993
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	TMEM67 CL E G H	91147	1454	Common atrioventricular canal	C0221215	ORPHA	0	928	28396	609884
HP:0002896	HP:0012028	Hepatocellular adenoma	1	TMEM67 CL E G H	91147	1454	Common atrioventricular canal	C0221215	ORPHA	0	928	28396	609884
HP:0002896	HP:0002884	Hepatoblastoma	1	TMEM67 CL E G H	91147	1454	Common atrioventricular canal	C0221215	ORPHA	0	928	28396	609884
HP:0002896	HP:0031207	Hepatic hemangioma	1	TMEM67 CL E G H	91147	1454	Common atrioventricular canal	C0221215	ORPHA	0	928	28396	609884
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	TP53 CL E G H	7157	1333	Chromosome 19, ring	CN036553	ORPHA	0	2977	11998	191170
HP:0002896	HP:0012028	Hepatocellular adenoma	1	TP53 CL E G H	7157	1333	Chromosome 19, ring	CN036553	ORPHA	0	2977	11998	191170
HP:0002896	HP:0002884	Hepatoblastoma	1	TP53 CL E G H	7157	1333	Chromosome 19, ring	CN036553	ORPHA	0	2977	11998	191170
HP:0002896	HP:0031207	Hepatic hemangioma	1	TP53 CL E G H	7157	1333	Chromosome 19, ring	CN036553	ORPHA	0	2977	11998	191170
HP:0002896	HP:0002884	Hepatoblastoma	1	TRIM28 CL E G H	10155	654	Ampola syndrome		ORPHA	0	67	16384	601742
HP:0002896	HP:0031207	Hepatic hemangioma	1	TRIM28 CL E G H	10155	654	Ampola syndrome		ORPHA	0	67	16384	601742
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	TRIM28 CL E G H	10155	654	Ampola syndrome		ORPHA	0	67	16384	601742
HP:0002896	HP:0012028	Hepatocellular adenoma	1	TRIM28 CL E G H	10155	654	Ampola syndrome		ORPHA	0	67	16384	601742
HP:0002896	HP:0031207	Hepatic hemangioma	1	TRIP13 CL E G H	9319	654	Ampola syndrome		ORPHA	0	228	12307	604507
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	TRIP13 CL E G H	9319	654	Ampola syndrome		ORPHA	0	228	12307	604507
HP:0002896	HP:0012028	Hepatocellular adenoma	1	TRIP13 CL E G H	9319	654	Ampola syndrome		ORPHA	0	228	12307	604507
HP:0002896	HP:0002884	Hepatoblastoma	1	TRIP13 CL E G H	9319	654	Ampola syndrome		ORPHA	0	228	12307	604507
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	WT1 CL E G H	7490	654	Ampola syndrome		ORPHA	0	1371	12796	607102
HP:0002896	HP:0012028	Hepatocellular adenoma	1	WT1 CL E G H	7490	654	Ampola syndrome		ORPHA	0	1371	12796	607102
HP:0002896	HP:0002884	Hepatoblastoma	1	WT1 CL E G H	7490	654	Ampola syndrome		ORPHA	0	1371	12796	607102
HP:0002896	HP:0031207	Hepatic hemangioma	1	WT1 CL E G H	7490	654	Ampola syndrome		ORPHA	0	1371	12796	607102