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:0006014	HP:0006014	Abnormally shaped carpal bones	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia		89
HP:0006014	HP:0006014	Abnormally shaped carpal bones	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0006014	HP:0006014	Abnormally shaped carpal bones	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease		65
HP:0006014	HP:0006014	Abnormally shaped carpal bones	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus		65
HP:0006014	HP:0006014	Abnormally shaped carpal bones	0	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type	HP:0040282 - Frequent	52
HP:0006014	HP:0006014	Abnormally shaped carpal bones	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0006014	HP:0006014	Abnormally shaped carpal bones	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta		240
HP:0006014	HP:0006014	Abnormally shaped carpal bones	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0006014	HP:0006014	Abnormally shaped carpal bones	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040282 - Frequent	14
HP:0006014	HP:0004235	Comma-shaped carpal bones	1	CL E G H
HP:0006014	HP:0006153	Disharmonious carpal bone	1	CL E G H
HP:0006014	HP:0004236	Irregular carpal bones	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional	89
HP:0006014	HP:0004236	Irregular carpal bones	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0006014	HP:0004237	Large carpal bones	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease		65
HP:0006014	HP:0004236	Irregular carpal bones	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0006014	HP:0004236	Irregular carpal bones	1	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.	240
HP:0006014	HP:0004237	Large carpal bones	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0006014	HP:0004260	Large hamate bone	2	CL E G H
HP:0006014	HP:0004245	Comma-shaped scaphoid	2	CL E G H
HP:0006014	HP:0004263	Large capitate bone	2	CL E G H
HP:0006014	HP:0004242	Broad carpal bones	2	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0006014	HP:0004242	Broad carpal bones	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0006014	HP:0004261	Wide hamate bone	3	CL E G H