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:
Abnormal skull morphology (HP:0000929)

Parent Node:
Abnormal calvaria morphology (HP:0002683)

..Starting node
..Thin calvarium (HP:0010539)

Term ID:

10539

Name:

Thin calvarium

Synonym:

Thin cranial bone; Thin skull bone

Definition:

The presence of an abnormally thin calvarium.

Comments:

Reference:

HP:0010539

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the fontanelles or cranial sutures (HP:0000235)

Cranial hyperostosis (HP:0004437)

Decreased calvarial ossification (HP:0005474)

Dense calvaria (HP:0000250)

obsolete Abnormality of calvarial morphology (HP:0002648)

Thickened calvaria (HP:0002684)

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:0010539	HP:0010539	Thin calvarium	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.	28

Genes (1) :PDGFRB

Diseases (1) :OMIM:601812

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