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:
Abnormal eye physiology (HP:0012373)

Parent Node:
Abnormal extraocular muscle physiology (HP:0025590)

..Starting node
..Abnormal oblique muscle physiology (HP:0031739)

Term ID:

31739

Name:

Abnormal oblique muscle physiology

Synonym:

Definition:

A functional anomaly of the inferior or superior oblique muscle.

Comments:

Reference:

HP:0031739

Genes and Diseases:

Child Nodes:

........

Abnormal superior oblique muscle physiology (HP:0025591)

................... HP:0025592 Superior oblique muscle weakness
................... HP:0025594 Superior oblique muscle overaction

........

Abnormal inferior oblique muscle physiology (HP:0025596)

................... HP:0025598 Inferior oblique muscle weakness
................... HP:0025599 Inferior oblique muscle overaction

Sister Nodes:

Abnormal rectus muscle physiology (HP:0031755)

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:0031739	HP:0031739	Abnormal oblique muscle physiology	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	1361
HP:0031739	HP:0025591	Abnormal superior oblique muscle physiology	1	CL E G H
HP:0031739	HP:0025596	Abnormal inferior oblique muscle physiology	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	1361
HP:0031739	HP:0025594	Superior oblique muscle overaction	2	CL E G H
HP:0031739	HP:0025592	Superior oblique muscle weakness	2	CL E G H
HP:0031739	HP:0025598	Inferior oblique muscle weakness	2	CL E G H
HP:0031739	HP:0025599	Inferior oblique muscle overaction	2	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	1361
HP:0031739	HP:0025597	Inferior oblique muscle restriction	3	CL E G H
HP:0031739	HP:0025595	Superior oblique muscle underaction	3	CL E G H
HP:0031739	HP:0025593	Superior oblique muscle restriction	3	CL E G H
HP:0031739	HP:0031741	Inferior oblique muscle underaction	3	CL E G H

Genes (1) :FBN1

Diseases (1) :OMIM:154700

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