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:0010011	HP:0010011	Abnormal 3rd metacarpal morphology	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0010011	HP:0010011	Abnormal 3rd metacarpal morphology	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0010011	HP:0010011	Abnormal 3rd metacarpal morphology	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0010011	HP:0010011	Abnormal 3rd metacarpal morphology	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0010011	HP:0010011	Abnormal 3rd metacarpal morphology	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010011	HP:0010011	Abnormal 3rd metacarpal morphology	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0010011	HP:0009706	Synostosis involving the 3rd metacarpal	1	CL E G H
HP:0010011	HP:0010222	Abnormality of the epiphysis of the 3rd metacarpal	1	CL E G H
HP:0010011	HP:0010039	Aplasia/Hypoplasia of the 3rd metacarpal	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0010011	HP:0010039	Aplasia/Hypoplasia of the 3rd metacarpal	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0010011	HP:0010039	Aplasia/Hypoplasia of the 3rd metacarpal	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0010011	HP:0010039	Aplasia/Hypoplasia of the 3rd metacarpal	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0010011	HP:0010039	Aplasia/Hypoplasia of the 3rd metacarpal	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010011	HP:0010039	Aplasia/Hypoplasia of the 3rd metacarpal	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0010011	HP:0009483	Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal	2	CL E G H
HP:0010011	HP:4000062	3-4 metacarpal synostosis	2	CL E G H
HP:0010011	HP:0041191	Fractured epiphysis of third metacarpal bone	2	CL E G H
HP:0010011	HP:0010223	Pseudoepiphysis of the 3rd metacarpal	2	CL E G H
HP:0010011	HP:0010041	Short 3rd metacarpal	2	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0010011	HP:0010041	Short 3rd metacarpal	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional	101
HP:0010011	HP:0010041	Short 3rd metacarpal	2	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional	101
HP:0010011	HP:0010041	Short 3rd metacarpal	2	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0010011	HP:0010041	Short 3rd metacarpal	2	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010011	HP:0010040	Aplasia of the 3rd metacarpal	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100