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 auditory canal (HP:0000372)

Parent Node:
Stenosis of the external auditory canal (HP:0000402)

..Starting node
..Slit-like opening of the exterior auditory meatus (HP:0008588)

Term ID:

8588

Name:

Slit-like opening of the exterior auditory meatus

Synonym:

Definition:

A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit.

Comments:

Reference:

HP:0008588

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cutaneous stenosis of the external auditory canal (HP:0040103)

Osseous stenosis of the external auditory canal (HP:0040104)

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:0008588	HP:0008588	Slit-like opening of the exterior auditory meatus	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	86

Genes (1) :SALL4

Diseases (1) :OMIM:607323

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