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 vertical rectus muscle physiology (HP:0031748)

Parent Node:
Abnormal superior rectus muscle physiology (HP:0025603)

..Starting node
..Superior rectus muscle weakness (HP:0031744)

Term ID:

31744

Name:

Superior rectus muscle weakness

Synonym:

Definition:

Decreased strength of the superior rectus muscle.

Comments:

Reference:

HP:0031744

Genes and Diseases:

Child Nodes:

........

Superior rectus muscle rescriction (HP:0031746)

........

Superior rectus muscle underaction (HP:0031747)

Sister Nodes:

Superior rectus muscle overaction (HP:0031745)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031744	HP:0031744	Superior rectus muscle weakness	0	CL E G H
HP:0031744	HP:0031747	Superior rectus muscle underaction	1	CL E G H
HP:0031744	HP:0031746	Superior rectus muscle restriction	1	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.