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 the outer ear (HP:0000356)

Grandparent Node:
Aplasia/Hypoplasia of the ear (HP:0008771)

Parent Node:
Aplasia/Hypoplasia of the external ear (HP:0008772)

..Starting node
..Focal absence of the external ear (HP:0400003)

Term ID:

400003

Name:

Focal absence of the external ear

Synonym:

Definition:

Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe).

Comments:

Reference:

HP:0400003

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anotia (HP:0009892)

Microtia (HP:0008551)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0400003	HP:0400003	Focal absence of the external ear	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.