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 ocular adnexa morphology (HP:0030669)

Grandparent Node:
Abnormality of the musculature (HP:0003011)

Parent Node:
Abnormality of the extraocular muscles (HP:0008049)

..Starting node
..Abnormality of inferior oblique extraocular muscle (HP:3000057)

Term ID:

3000057

Name:

Abnormality of inferior oblique extraocular muscle

Synonym:

Abnormality of the inferior oblique muscle

Definition:

An abnormality of an inferior oblique extraocular muscle.

Comments:

Reference:

HP:3000057

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal levator palpebrae superioris morphology (HP:3000072)

Abnormality of inferior rectus extraocular muscle (HP:3000058)

Abnormality of lateral rectus extra-ocular muscle (HP:3000069)

Absent extraocular muscles (HP:0007886)

Congenital extraocular muscle anomaly (HP:0007647)

Congenital fibrosis of extraocular muscles (HP:0001491)

Superior rectus atrophy (HP:0012242)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:3000057	HP:3000057	Abnormality of inferior oblique extraocular muscle	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.