Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal skeletal morphology (HP:0011842)

Parent Node:
Abnormal calvaria morphology (HP:0002683)

Parent Node:
Hyperostosis (HP:0100774)

..Starting node
..Cranial hyperostosis (HP:0004437)

Term ID:

4437

Name:

Cranial hyperostosis

Synonym:

Enlargement of skull bones; Excessive growth of skull bones; Hyperostosis of cranial bones; Hyperostosis of cranial vault; Hypertrophy of cranial bones; Increased ossification of cranial bones; Overgrowth of skull bones; Thick skull bones

Definition:

Excessive growth of the bones of cranium, i.e., of the skull.

Comments:

Reference:

HP:0004437

Genes and Diseases:

Child Nodes:

........

Hyperostosis frontalis interna (HP:0004438)

........

Calvarial hyperostosis (HP:0004490)

........

Craniofacial hyperostosis (HP:0004493)

................... HP:0005465 Facial hyperostosis

........

Hyperostosis cranialis interna (HP:0005890)

Sister Nodes:

Vertebral hyperostosis (HP:0008442)

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

Genes (44) :AKT1 ALMS1 AMER1 ANKH B3GALT6 CA2 COL1A1 COX4I2 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 FGFR1 FLNA GJA1 GNAS HNRNPA1 HNRNPA2B1 IDUA KRAS LRP4 LRP5 MAN2B1 NOTCH3 OSTM1 PIK3CA PRKAR1A PTDSS1 PTEN RPS6KA3 SLC29A3 SLC39A14 SMAD4 SOST TBXAS1 TCIRG1 THOC2 TNFRSF11A TNFRSF11B TNFSF11 VCP XPA XPC

Diseases (41) :ORPHA:744 OMIM:176920 ORPHA:64 OMIM:203800 ORPHA:2780 ORPHA:1522 ORPHA:2725 OMIM:259730 ORPHA:1310 OMIM:114000 OMIM:612714 ORPHA:910 ORPHA:2396 ORPHA:2484 OMIM:218400 ORPHA:2710 OMIM:174800 ORPHA:79443 ORPHA:52430 OMIM:607014 ORPHA:3152 ORPHA:2790 ORPHA:3416 ORPHA:309282 ORPHA:2789 OMIM:259720 OMIM:612918 OMIM:101800 ORPHA:2658 ORPHA:192 ORPHA:1782 OMIM:144755 ORPHA:2588 ORPHA:1513 OMIM:122860 OMIM:269500 OMIM:231095 ORPHA:1802 ORPHA:457240 ORPHA:2801 OMIM:259710

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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