Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal fundus morphology (HP:0001098)help
Parent Node:
expand
Abnormality of the optic nerve (HP:0000587)help
..Starting node
..expand
Optic nerve misrouting (HP:0025551)help
Term ID: 25551
Name: Optic nerve misrouting
Synonym: Optic pathway misrouting; Visual pathway misrouting
Definition: Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp).
Comments:
Reference: HP:0025551
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal optic disc morphology (HP:0012795) help
..expandAbnormality of optic chiasm morphology (HP:0025163) help
..expandAplasia/Hypoplasia of the optic nerve (HP:0008058) help
..expandLeber optic atrophy (HP:0001112) help
..expandMarcus Gunn pupil (HP:0200057) help
..expandMorning glory anomaly (HP:0025514) help
..expandOptic disc coloboma (HP:0000588) help
..expandOptic nerve arteriovenous malformation (HP:0031256) help
..expandOptic nerve compression (HP:0007807) help
..expandOptic nerve dysplasia (HP:0001093) help
..expandOptic neuritis (HP:0100653) help
..expandOptic neuropathy (HP:0001138) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025551HP:0025551Optic nerve misrouting0MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent124
HP:0025551HP:0025551Optic nerve misrouting0OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent121
HP:0025551HP:0025551Optic nerve misrouting0SLC38A8 CL E G H14616732434OMIM:609218Foveal hypoplasia 2.13
HP:0025551HP:0025551Optic nerve misrouting0SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 4HP:0040282 - Frequent42
HP:0025551HP:0025551Optic nerve misrouting0TYRP1 CL E G H730612450ORPHA:79433Oculocutaneous albinism type 3HP:0040283 - Occasional62


Genes (5) :MC1R OCA2 SLC38A8 SLC45A2 TYRP1

Diseases (4) :ORPHA:79432 OMIM:609218 ORPHA:79435 ORPHA:79433
 

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