Human Phenotype Ontology

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 skull morphology (HP:0000929)

Parent Node:
Abnormal mastoid morphology (HP:0000264)

..Starting node
..Absent mastoid (HP:0012761)

Term ID:

12761

Name:

Absent mastoid

Synonym:

Absent mastoids; Failure of development of mastoid; Mastoid agenesis

Definition:

A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent.

Comments:

Reference:

HP:0012761

Genes and Diseases:

Child Nodes:

Sister Nodes:

Advanced pneumatization of the mastoid process (HP:0010724)

Delayed pneumatization of the mastoid process (HP:0005906)

Mastoiditis (HP:0000265)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012761	HP:0012761	Absent mastoid	0	CL E G H

Genes (0) :

Diseases (0) :

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