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 extraocular muscle physiology (HP:0025590)

Parent Node:
Abnormal rectus muscle physiology (HP:0031755)

..Starting node
..Abnormal vertical rectus muscle physiology (HP:0031748)

Term ID:

31748

Name:

Abnormal vertical rectus muscle physiology

Synonym:

Definition:

A functional anomaly of the superior or inferior rectus muscle.

Comments:

Reference:

HP:0031748

Genes and Diseases:

Child Nodes:

........

Abnormal inferior rectus muscle physiology (HP:0025600)

................... HP:0025601 Inferior rectus muscle weakness
................... HP:0031743 Inferior rectus muscle overaction

........

Abnormal superior rectus muscle physiology (HP:0025603)

................... HP:0031744 Superior rectus muscle weakness
................... HP:0031745 Superior rectus muscle overaction

Sister Nodes:

Abnormal horizontal rectus muscle physiology (HP:0031740)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031748	HP:0031748	Abnormal vertical rectus muscle physiology	0	CL E G H
HP:0031748	HP:0025603	Abnormal superior rectus muscle physiology	1	CL E G H
HP:0031748	HP:0025600	Abnormal inferior rectus muscle physiology	1	CL E G H
HP:0031748	HP:0025601	Inferior rectus muscle weakness	2	CL E G H
HP:0031748	HP:0031745	Superior rectus muscle overaction	2	CL E G H
HP:0031748	HP:0031743	Inferior rectus muscle overaction	2	CL E G H
HP:0031748	HP:0031744	Superior rectus muscle weakness	2	CL E G H
HP:0031748	HP:0031747	Superior rectus muscle underaction	3	CL E G H
HP:0031748	HP:0031746	Superior rectus muscle restriction	3	CL E G H
HP:0031748	HP:0031742	Inferior rectus muscle underaction	3	CL E G H
HP:0031748	HP:0025602	Inferior rectus muscle restriction	3	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 August 2021 release.