Human Phenotype Ontology

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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:
Abnormality of skull ossification (HP:0002703)

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

Parent Node:
Abnormal calvaria morphology (HP:0002683)

Parent Node:
Increased skull ossification (HP:0004330)

..Starting node
..Dense calvaria (HP:0000250)

Term ID:

250

Name:

Dense calvaria

Synonym:

Dense skull cap

Definition:

An abnormal increase of density of the bones making up the calvaria.

Comments:

Reference:

HP:0000250

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased spinal bone density (HP:0004563)

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:0000250	HP:0000250	Dense calvaria	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0000250	HP:0000250	Dense calvaria	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.	72
HP:0000250	HP:0000250	Dense calvaria	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.	97

Genes (3) :HGSNAT NAGLU SGSH

Diseases (3) :OMIM:252930 OMIM:252920 OMIM:252900

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