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:0040035	HP:0040035	Abnormality of the fourth metatarsal bone	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0040035	HP:0040035	Abnormality of the fourth metatarsal bone	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0040035	HP:0040035	Abnormality of the fourth metatarsal bone	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0040035	HP:0040035	Abnormality of the fourth metatarsal bone	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0040035	HP:0040035	Abnormality of the fourth metatarsal bone	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0040035	HP:0040035	Abnormality of the fourth metatarsal bone	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0040035	HP:0040035	Abnormality of the fourth metatarsal bone	0	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease		72
HP:0040035	HP:0040035	Abnormality of the fourth metatarsal bone	0	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease		45
HP:0040035	HP:0040035	Abnormality of the fourth metatarsal bone	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0040035	HP:0040035	Abnormality of the fourth metatarsal bone	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome		6
HP:0040035	HP:0040035	Abnormality of the fourth metatarsal bone	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0040035	HP:0040035	Abnormality of the fourth metatarsal bone	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0040035	HP:0040035	Abnormality of the fourth metatarsal bone	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0040035	HP:0041230	Fractured metatarsal bone of digit 4	1	CL E G H
HP:0040035	HP:0004689	Short fourth metatarsal	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0040035	HP:0004689	Short fourth metatarsal	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0040035	HP:0004689	Short fourth metatarsal	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0040035	HP:0004689	Short fourth metatarsal	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0040035	HP:0004689	Short fourth metatarsal	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0040035	HP:0004689	Short fourth metatarsal	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0040035	HP:0004689	Short fourth metatarsal	1	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease	.	72
HP:0040035	HP:0004689	Short fourth metatarsal	1	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease	.	45
HP:0040035	HP:0004689	Short fourth metatarsal	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0040035	HP:0004689	Short fourth metatarsal	1	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040281 - Very frequent	6
HP:0040035	HP:0004689	Short fourth metatarsal	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0040035	HP:0004689	Short fourth metatarsal	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0040035	HP:0004689	Short fourth metatarsal	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68