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:
Morphological abnormality of the middle ear (HP:0008609)

Parent Node:
Abnormality of the middle ear ossicles (HP:0004452)

..Starting node
..Aplasia of the middle ear ossicles (HP:0009910)

Term ID:

9910

Name:

Aplasia of the middle ear ossicles

Synonym:

Absent middle ear bones; Absent middle ear ossicles

Definition:

Absence of the middle ear ossicles, malleus, incus, and stapes.

Comments:

Reference:

HP:0009910

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the incus (HP:0011453)

Abnormality of the malleus (HP:0011454)

Abnormality of the stapes (HP:0008628)

Fusion of middle ear ossicles (HP:0005473)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009910	HP:0009910	Aplasia of the middle ear ossicles	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.