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 facial skeleton morphology (HP:0011821)

Grandparent Node:
Increased bone mineral density (HP:0011001)

Parent Node:
Craniofacial osteosclerosis (HP:0005464)

..Starting node
..Calvarial osteosclerosis (HP:0005450)

Term ID:

5450

Name:

Calvarial osteosclerosis

Synonym:

Definition:

An increase in bone density affecting the calvaria (roof of the skull).

Comments:

Reference:

HP:0005450

Genes and Diseases:

Child Nodes:

Sister Nodes:

Osteosclerosis of the base of the skull (HP:0005746)

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:0005450	HP:0005450	Calvarial osteosclerosis	0	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	.	164
HP:0005450	HP:0005450	Calvarial osteosclerosis	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0005450	HP:0005450	Calvarial osteosclerosis	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0005450	HP:0005450	Calvarial osteosclerosis	0	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0005450	HP:0005450	Calvarial osteosclerosis	0	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1		125
HP:0005450	HP:0005450	Calvarial osteosclerosis	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent	52
HP:0005450	HP:0005450	Calvarial osteosclerosis	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.	52
HP:0005450	HP:0005450	Calvarial osteosclerosis	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82

Genes (7) :ANKH DVL1 FAM111A KL LRP5 TBCE TCIRG1

Diseases (8) :OMIM:123000 OMIM:616331 ORPHA:93325 OMIM:617994 OMIM:607634 ORPHA:93324 OMIM:244460 OMIM:259700

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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