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:0008519	HP:0008519	Abnormal coccyx morphology	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome		3
HP:0008519	HP:0008519	Abnormal coccyx morphology	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome		9
HP:0008519	HP:0008519	Abnormal coccyx morphology	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2		9
HP:0008519	HP:0008519	Abnormal coccyx morphology	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0008519	HP:0008519	Abnormal coccyx morphology	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome		114
HP:0008519	HP:0008519	Abnormal coccyx morphology	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome		21
HP:0008519	HP:0008519	Abnormal coccyx morphology	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0008519	HP:0008519	Abnormal coccyx morphology	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0008519	HP:0008519	Abnormal coccyx morphology	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0008519	HP:0008519	Abnormal coccyx morphology	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome		21
HP:0008519	HP:0008519	Abnormal coccyx morphology	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0008519	HP:0008519	Abnormal coccyx morphology	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0008519	HP:0041146	Fractured coccyx	1	CL E G H
HP:0008519	HP:0002825	Caudal appendage	1	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	3
HP:0008519	HP:0040016	Prominent coccyx	1	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	3
HP:0008519	HP:0002825	Caudal appendage	1	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	9
HP:0008519	HP:0040016	Prominent coccyx	1	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	9
HP:0008519	HP:0002825	Caudal appendage	1	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9
HP:0008519	HP:0002825	Caudal appendage	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0008519	HP:0002825	Caudal appendage	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0008519	HP:0040016	Prominent coccyx	1	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	21
HP:0008519	HP:0002825	Caudal appendage	1	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	21
HP:0008519	HP:0002825	Caudal appendage	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0008519	HP:0040016	Prominent coccyx	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0008519	HP:0040016	Prominent coccyx	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0008519	HP:0040017	Protruding coccyx	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0008519	HP:0040017	Protruding coccyx	1	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome		21
HP:0008519	HP:0040016	Prominent coccyx	1	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome		21
HP:0008519	HP:0040016	Prominent coccyx	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0008519	HP:0040017	Protruding coccyx	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0008519	HP:0002831	Long coccyx	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.	214
HP:0008519	HP:0002825	Caudal appendage	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.	214
HP:0008519	HP:0008472	Prominent protruding coccyx	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0008519	HP:0008472	Prominent protruding coccyx	2	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040281 - Very frequent	21
HP:0008519	HP:0008472	Prominent protruding coccyx	2	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5