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 calvaria morphology (HP:0002683)

Grandparent Node:
Hyperostosis (HP:0100774)

Parent Node:
Cranial hyperostosis (HP:0004437)

..Starting node
..Calvarial hyperostosis (HP:0004490)

Term ID:

4490

Name:

Calvarial hyperostosis

Synonym:

Enlargement of calvarial bones; Excessive growth of calvarial bones; Hyperostosis of calvarial bones; Hypertrophy of calvarial bones; Increased ossification of calvarial bones; Overgrowth of calvarial bones; Overgrowth of skullcap; Thick calvarial bones

Definition:

Excessive growth of the calvaria.

Comments:

Reference:

HP:0004490

Genes and Diseases:

Child Nodes:

Sister Nodes:

Craniofacial hyperostosis (HP:0004493)

Hyperostosis cranialis interna (HP:0005890)

Hyperostosis frontalis interna (HP:0004438)

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:0004490	HP:0004490	Calvarial hyperostosis	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent		54
HP:0004490	HP:0004490	Calvarial hyperostosis	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.		54
HP:0004490	HP:0004490	Calvarial hyperostosis	0	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease	HP:0040283 - Occasional		373
HP:0004490	HP:0004490	Calvarial hyperostosis	0	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease	.	HP:0003593 - Infantile onset	373
HP:0004490	HP:0004490	Calvarial hyperostosis	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.		13
HP:0004490	HP:0004490	Calvarial hyperostosis	0	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:0004490	HP:0004490	Calvarial hyperostosis	0	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:0004490	HP:0004490	Calvarial hyperostosis	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	HP:0011463 - Childhood onset	115
HP:0004490	HP:0004490	Calvarial hyperostosis	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.		134
HP:0004490	HP:0004490	Calvarial hyperostosis	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent		948
HP:0004490	HP:0004490	Calvarial hyperostosis	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	.		5
HP:0004490	HP:0004490	Calvarial hyperostosis	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		63

Genes (10) :AKT1 COL1A1 COX4I2 HNRNPA1 HNRNPA2B1 IDUA PRKAR1A PTEN SLC39A14 VCP

Diseases (9) :ORPHA:744 OMIM:176920 ORPHA:1310 OMIM:114000 OMIM:612714 ORPHA:52430 OMIM:607014 OMIM:101800 OMIM:144755

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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