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:0006392	HP:0006392	Increased density of long bones	0	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia		304
HP:0006392	HP:0006392	Increased density of long bones	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3		29
HP:0006392	HP:0006392	Increased density of long bones	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0006392	HP:0006392	Increased density of long bones	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0006392	HP:0006392	Increased density of long bones	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B		101
HP:0006392	HP:0006392	Increased density of long bones	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma		85
HP:0006392	HP:0006392	Increased density of long bones	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0006392	HP:0006392	Increased density of long bones	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant		26
HP:0006392	HP:0006392	Increased density of long bones	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B		86
HP:0006392	HP:0006392	Increased density of long bones	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0006392	HP:0006392	Increased density of long bones	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset		72
HP:0006392	HP:0006392	Increased density of long bones	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2		44
HP:0006392	HP:0003881	Humeral sclerosis	1	CL E G H
HP:0006392	HP:0003034	Diaphyseal sclerosis	1	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia		304
HP:0006392	HP:0003034	Diaphyseal sclerosis	1	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.	29
HP:0006392	HP:0003034	Diaphyseal sclerosis	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0006392	HP:0006440	Increased density of long bone diaphyses	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0006392	HP:0003034	Diaphyseal sclerosis	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	101
HP:0006392	HP:0003034	Diaphyseal sclerosis	1	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma		85
HP:0006392	HP:0003034	Diaphyseal sclerosis	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0006392	HP:0003034	Diaphyseal sclerosis	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	86
HP:0006392	HP:0003034	Diaphyseal sclerosis	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0006392	HP:0003991	Osteosclerosis of the ulna	1	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset		72
HP:0006392	HP:0003034	Diaphyseal sclerosis	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.	44
HP:0006392	HP:0003880	Sclerotic foci of the humerus	2	CL E G H
HP:0006392	HP:0003860	Diaphyseal sclerosis of the upper limbs	2	CL E G H
HP:0006392	HP:0005045	Diaphyseal cortical sclerosis	2	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia	.	304
HP:0006392	HP:0005045	Diaphyseal cortical sclerosis	2	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.	85
HP:0006392	HP:0003933	Sclerosis of humeral diaphysis	3	CL E G H