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:0005464	HP:0005464	Craniofacial osteosclerosis	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0005464	HP:0005464	Craniofacial osteosclerosis	0	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant		164
HP:0005464	HP:0005464	Craniofacial osteosclerosis	0	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis		102
HP:0005464	HP:0005464	Craniofacial osteosclerosis	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0005464	HP:0005464	Craniofacial osteosclerosis	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0005464	HP:0005464	Craniofacial osteosclerosis	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0005464	HP:0005464	Craniofacial osteosclerosis	0	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0005464	HP:0005464	Craniofacial osteosclerosis	0	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1		125
HP:0005464	HP:0005464	Craniofacial osteosclerosis	0	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis		2
HP:0005464	HP:0005464	Craniofacial osteosclerosis	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna		5
HP:0005464	HP:0005464	Craniofacial osteosclerosis	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0005464	HP:0005464	Craniofacial osteosclerosis	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome		52
HP:0005464	HP:0005464	Craniofacial osteosclerosis	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1		52
HP:0005464	HP:0005464	Craniofacial osteosclerosis	0	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis		82
HP:0005464	HP:0005464	Craniofacial osteosclerosis	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82
HP:0005464	HP:0005464	Craniofacial osteosclerosis	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040281 - Very frequent	13
HP:0005464	HP:0005450	Calvarial osteosclerosis	1	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	.	164
HP:0005464	HP:0005746	Osteosclerosis of the base of the skull	1	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent	102
HP:0005464	HP:0005450	Calvarial osteosclerosis	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0005464	HP:0005450	Calvarial osteosclerosis	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0005464	HP:0005450	Calvarial osteosclerosis	1	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0005464	HP:0005450	Calvarial osteosclerosis	1	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1		125
HP:0005464	HP:0005746	Osteosclerosis of the base of the skull	1	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent	2
HP:0005464	HP:0005746	Osteosclerosis of the base of the skull	1	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	.	5
HP:0005464	HP:0005450	Calvarial osteosclerosis	1	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent	52
HP:0005464	HP:0005450	Calvarial osteosclerosis	1	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.	52
HP:0005464	HP:0005746	Osteosclerosis of the base of the skull	1	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent	82
HP:0005464	HP:0005450	Calvarial osteosclerosis	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82