Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100774	HP:0100774	Hyperostosis	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent		54
HP:0100774	HP:0100774	Hyperostosis	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0100774	HP:0100774	Hyperostosis	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0100774	HP:0100774	Hyperostosis	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0100774	HP:0100774	Hyperostosis	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0100774	HP:0100774	Hyperostosis	0	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia			164
HP:0100774	HP:0100774	Hyperostosis	0	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome			38
HP:0100774	HP:0100774	Hyperostosis	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0100774	HP:0100774	Hyperostosis	0	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease			373
HP:0100774	HP:0100774	Hyperostosis	0	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease			373
HP:0100774	HP:0100774	Hyperostosis	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0100774	HP:0100774	Hyperostosis	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0100774	HP:0100774	Hyperostosis	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0100774	HP:0100774	Hyperostosis	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0100774	HP:0100774	Hyperostosis	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0100774	HP:0100774	Hyperostosis	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0100774	HP:0100774	Hyperostosis	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0100774	HP:0100774	Hyperostosis	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome			493
HP:0100774	HP:0100774	Hyperostosis	0	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1	.		46
HP:0100774	HP:0100774	Hyperostosis	0	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia			68
HP:0100774	HP:0100774	Hyperostosis	0	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0100774	HP:0100774	Hyperostosis	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0100774	HP:0100774	Hyperostosis	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0100774	HP:0100774	Hyperostosis	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional		7
HP:0100774	HP:0100774	Hyperostosis	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic			101
HP:0100774	HP:0100774	Hyperostosis	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0100774	HP:0100774	Hyperostosis	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0100774	HP:0100774	Hyperostosis	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0100774	HP:0100774	Hyperostosis	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0100774	HP:0100774	Hyperostosis	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0100774	HP:0100774	Hyperostosis	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040281 - Very frequent		68
HP:0100774	HP:0100774	Hyperostosis	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0100774	HP:0100774	Hyperostosis	0	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis			124
HP:0100774	HP:0100774	Hyperostosis	0	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type			125
HP:0100774	HP:0100774	Hyperostosis	0	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata			125
HP:0100774	HP:0100774	Hyperostosis	0	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal	.		125
HP:0100774	HP:0100774	Hyperostosis	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0100774	HP:0100774	Hyperostosis	0	MAP2K1 CL E G H	5604	6840	OMIM:155950	Melorheostosis, isolated	.		134
HP:0100774	HP:0100774	Hyperostosis	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0100774	HP:0100774	Hyperostosis	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0100774	HP:0100774	Hyperostosis	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0100774	HP:0100774	Hyperostosis	0	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi			162
HP:0100774	HP:0100774	Hyperostosis	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0100774	HP:0100774	Hyperostosis	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0100774	HP:0100774	Hyperostosis	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent		948
HP:0100774	HP:0100774	Hyperostosis	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040281 - Very frequent		948
HP:0100774	HP:0100774	Hyperostosis	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0100774	HP:0100774	Hyperostosis	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0100774	HP:0100774	Hyperostosis	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna			5
HP:0100774	HP:0100774	Hyperostosis	0	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2	.		13
HP:0100774	HP:0100774	Hyperostosis	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0100774	HP:0100774	Hyperostosis	0	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia			26
HP:0100774	HP:0100774	Hyperostosis	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0100774	HP:0100774	Hyperostosis	0	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata			26
HP:0100774	HP:0100774	Hyperostosis	0	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis			26
HP:0100774	HP:0100774	Hyperostosis	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0100774	HP:0100774	Hyperostosis	0	TBXAS1 CL E G H	6916	11609	ORPHA:1802	Ghosal hematodiaphyseal dysplasia			16
HP:0100774	HP:0100774	Hyperostosis	0	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia			16
HP:0100774	HP:0100774	Hyperostosis	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0100774	HP:0100774	Hyperostosis	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040281 - Very frequent		13
HP:0100774	HP:0100774	Hyperostosis	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0100774	HP:0100774	Hyperostosis	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0100774	HP:0100774	Hyperostosis	0	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease			72
HP:0100774	HP:0100774	Hyperostosis	0	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease			44
HP:0100774	HP:0100774	Hyperostosis	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0100774	HP:0100774	Hyperostosis	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0100774	HP:0100774	Hyperostosis	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional		65
HP:0100774	HP:0100774	Hyperostosis	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional		6
HP:0100774	HP:0100774	Hyperostosis	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0100774	HP:0100774	Hyperostosis	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0100774	HP:0004437	Cranial hyperostosis	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0100774	HP:0004437	Cranial hyperostosis	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0100774	HP:0004437	Cranial hyperostosis	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0100774	HP:0004437	Cranial hyperostosis	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0100774	HP:0004437	Cranial hyperostosis	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0100774	HP:0004437	Cranial hyperostosis	1	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia			164
HP:0100774	HP:0004437	Cranial hyperostosis	1	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome			38
HP:0100774	HP:0004437	Cranial hyperostosis	1	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.		29
HP:0100774	HP:0004437	Cranial hyperostosis	1	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease			373
HP:0100774	HP:0004437	Cranial hyperostosis	1	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease			373
HP:0100774	HP:0004437	Cranial hyperostosis	1	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0100774	HP:0004437	Cranial hyperostosis	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0100774	HP:0004437	Cranial hyperostosis	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0100774	HP:0004437	Cranial hyperostosis	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0100774	HP:0004437	Cranial hyperostosis	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0100774	HP:0004437	Cranial hyperostosis	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0100774	HP:0004437	Cranial hyperostosis	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0100774	HP:0004437	Cranial hyperostosis	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome			493
HP:0100774	HP:0004437	Cranial hyperostosis	1	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia			68
HP:0100774	HP:0004437	Cranial hyperostosis	1	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0100774	HP:0008442	Vertebral hyperostosis	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.		68
HP:0100774	HP:0004437	Cranial hyperostosis	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0100774	HP:0004437	Cranial hyperostosis	1	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic			101
HP:0100774	HP:0004437	Cranial hyperostosis	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0100774	HP:0004437	Cranial hyperostosis	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0100774	HP:0004437	Cranial hyperostosis	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0100774	HP:0004437	Cranial hyperostosis	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0100774	HP:0004437	Cranial hyperostosis	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0100774	HP:0004437	Cranial hyperostosis	1	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis			124
HP:0100774	HP:0004437	Cranial hyperostosis	1	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type			125
HP:0100774	HP:0004437	Cranial hyperostosis	1	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040281 - Very frequent		125
HP:0100774	HP:0004437	Cranial hyperostosis	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional		136
HP:0100774	HP:0004437	Cranial hyperostosis	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0100774	HP:0004437	Cranial hyperostosis	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0100774	HP:0008442	Vertebral hyperostosis	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040283 - Occasional		217
HP:0100774	HP:0004437	Cranial hyperostosis	1	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	.		162
HP:0100774	HP:0004437	Cranial hyperostosis	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0100774	HP:0004437	Cranial hyperostosis	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent		6
HP:0100774	HP:0004437	Cranial hyperostosis	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0100774	HP:0004437	Cranial hyperostosis	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0100774	HP:0004437	Cranial hyperostosis	1	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0100774	HP:0004437	Cranial hyperostosis	1	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna			5
HP:0100774	HP:0004437	Cranial hyperostosis	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0100774	HP:0004437	Cranial hyperostosis	1	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia			26
HP:0100774	HP:0004437	Cranial hyperostosis	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0100774	HP:0004437	Cranial hyperostosis	1	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040281 - Very frequent		26
HP:0100774	HP:0004437	Cranial hyperostosis	1	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis			26
HP:0100774	HP:0004437	Cranial hyperostosis	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0100774	HP:0004437	Cranial hyperostosis	1	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia			16
HP:0100774	HP:0004437	Cranial hyperostosis	1	TBXAS1 CL E G H	6916	11609	ORPHA:1802	Ghosal hematodiaphyseal dysplasia			16
HP:0100774	HP:0004437	Cranial hyperostosis	1	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0100774	HP:0004437	Cranial hyperostosis	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional		5
HP:0100774	HP:0004437	Cranial hyperostosis	1	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0100774	HP:0004437	Cranial hyperostosis	1	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent		72
HP:0100774	HP:0004437	Cranial hyperostosis	1	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent		44
HP:0100774	HP:0004437	Cranial hyperostosis	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.		44
HP:0100774	HP:0004437	Cranial hyperostosis	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0100774	HP:0004437	Cranial hyperostosis	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0100774	HP:0004437	Cranial hyperostosis	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0100774	HP:0004490	Calvarial hyperostosis	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent		54
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0100774	HP:0004490	Calvarial hyperostosis	2	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.		54
HP:0100774	HP:0004438	Hyperostosis frontalis interna	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0100774	HP:0004438	Hyperostosis frontalis interna	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040281 - Very frequent		164
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome	HP:0040281 - Very frequent		38
HP:0100774	HP:0004490	Calvarial hyperostosis	2	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease	HP:0040283 - Occasional		373
HP:0100774	HP:0004490	Calvarial hyperostosis	2	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease	.	HP:0003593 - Infantile onset	373
HP:0100774	HP:0004490	Calvarial hyperostosis	2	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.		13
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		30
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		106
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		54
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		158
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		83
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		172
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent		493
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040281 - Very frequent		68
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.		101
HP:0100774	HP:0004438	Hyperostosis frontalis interna	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional		101
HP:0100774	HP:0004490	Calvarial hyperostosis	2	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		31
HP:0100774	HP:0004490	Calvarial hyperostosis	2	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		5
HP:0100774	HP:0004490	Calvarial hyperostosis	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	HP:0011463 - Childhood onset	115
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		196
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis	HP:0040281 - Very frequent		124
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type	HP:0040281 - Very frequent		125
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent		144
HP:0100774	HP:0004490	Calvarial hyperostosis	2	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.		134
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0100774	HP:0004490	Calvarial hyperostosis	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent		948
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent		65
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		68
HP:0100774	HP:0005890	Hyperostosis cranialis interna	2	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	.		5
HP:0100774	HP:0004490	Calvarial hyperostosis	2	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	.		5
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent		504
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia	HP:0040281 - Very frequent		26
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.		26
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis	HP:0040281 - Very frequent		26
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	TBXAS1 CL E G H	6916	11609	ORPHA:1802	Ghosal hematodiaphyseal dysplasia	HP:0040281 - Very frequent		16
HP:0100774	HP:0005890	Hyperostosis cranialis interna	2	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia			16
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		82
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		72
HP:0100774	HP:0004490	Calvarial hyperostosis	2	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		63
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		34
HP:0100774	HP:0004493	Craniofacial hyperostosis	2	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		86
HP:0100774	HP:0005465	Facial hyperostosis	3	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.		54
HP:0100774	HP:0005465	Facial hyperostosis	3	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040281 - Very frequent		34
HP:0100774	HP:0005465	Facial hyperostosis	3	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.		68
HP:0100774	HP:0005465	Facial hyperostosis	3	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent		6
HP:0100774	HP:0005465	Facial hyperostosis	3	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0100774	HP:0004472	Mandibular hyperostosis	4	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.		54
HP:0100774	HP:0007285	Facial palsy secondary to cranial hyperostosis	4	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.		26