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:0004259	HP:0004259	Abnormality of the hamate bone	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0004259	HP:0004259	Abnormality of the hamate bone	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0004259	HP:0004259	Abnormality of the hamate bone	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0004259	HP:0004259	Abnormality of the hamate bone	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0004259	HP:0004259	Abnormality of the hamate bone	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0004259	HP:0004259	Abnormality of the hamate bone	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0004259	HP:0004259	Abnormality of the hamate bone	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0004259	HP:0004259	Abnormality of the hamate bone	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0004259	HP:0004259	Abnormality of the hamate bone	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0004259	HP:0004259	Abnormality of the hamate bone	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0004259	HP:0004259	Abnormality of the hamate bone	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0004259	HP:0004259	Abnormality of the hamate bone	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0004259	HP:0004260	Large hamate bone	1	CL E G H
HP:0004259	HP:0001241	Capitate-hamate fusion	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0004259	HP:0001241	Capitate-hamate fusion	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	7
HP:0004259	HP:0001241	Capitate-hamate fusion	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	209
HP:0004259	HP:0001241	Capitate-hamate fusion	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0004259	HP:0001241	Capitate-hamate fusion	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	137
HP:0004259	HP:0001241	Capitate-hamate fusion	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0004259	HP:0001241	Capitate-hamate fusion	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome	.	145
HP:0004259	HP:0001241	Capitate-hamate fusion	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0004259	HP:0001241	Capitate-hamate fusion	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0004259	HP:0001241	Capitate-hamate fusion	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	1
HP:0004259	HP:0001241	Capitate-hamate fusion	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0004259	HP:0001241	Capitate-hamate fusion	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0004259	HP:0004261	Wide hamate bone	2	CL E G H