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 mastoid morphology (HP:0000264)

..Starting node
..Delayed pneumatization of the mastoid process (HP:0005906)

Term ID:

5906

Name:

Delayed pneumatization of the mastoid process

Synonym:

Mastoid processes poorly pneumatized

Definition:

An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.

Comments:

Reference:

HP:0005906

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent mastoid (HP:0012761)

Advanced pneumatization of the mastoid process (HP:0010724)

Mastoiditis (HP:0000265)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005906	HP:0005906	Delayed pneumatization of the mastoid process	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis	39

Genes (1) :CTSK

Diseases (1) :ORPHA:763

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