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:0010048	HP:0010048	Aplasia of metacarpal bones	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0010048	HP:0010048	Aplasia of metacarpal bones	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0010048	HP:0010048	Aplasia of metacarpal bones	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0010048	HP:0010048	Aplasia of metacarpal bones	0	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0010048	HP:0010048	Aplasia of metacarpal bones	0	LMBR1 CL E G H	64327	13243	ORPHA:93321	Radial hemimelia		106
HP:0010048	HP:0010048	Aplasia of metacarpal bones	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0010048	HP:0010048	Aplasia of metacarpal bones	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0010048	HP:0010048	Aplasia of metacarpal bones	0	SHH CL E G H	6469	10848	ORPHA:93321	Radial hemimelia		67
HP:0010048	HP:0010048	Aplasia of metacarpal bones	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0010048	HP:0010048	Aplasia of metacarpal bones	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome		8
HP:0010048	HP:0010048	Aplasia of metacarpal bones	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0010048	HP:0010048	Aplasia of metacarpal bones	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0010048	HP:0010035	Aplasia of the 1st metacarpal	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0010048	HP:0010035	Aplasia of the 1st metacarpal	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0010048	HP:0010043	Aplasia of the 4th metacarpal	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0010048	HP:0010037	Aplasia of the 2nd metacarpal	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0010048	HP:0010035	Aplasia of the 1st metacarpal	1	LMBR1 CL E G H	64327	13243	ORPHA:93321	Radial hemimelia	HP:0040281 - Very frequent	106
HP:0010048	HP:0010035	Aplasia of the 1st metacarpal	1	SHH CL E G H	6469	10848	ORPHA:93321	Radial hemimelia	HP:0040281 - Very frequent	67
HP:0010048	HP:0010046	Aplasia of the 5th metacarpal	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0010048	HP:0010043	Aplasia of the 4th metacarpal	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0010048	HP:0010040	Aplasia of the 3rd metacarpal	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0010048	HP:0010035	Aplasia of the 1st metacarpal	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0010048	HP:0010035	Aplasia of the 1st metacarpal	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0010048	HP:0010035	Aplasia of the 1st metacarpal	1	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125