Human Phenotype Ontology 
Grandparent Node:
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Abnormality iris morphology (HP:0000525)help
Parent Node:
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Abnormal pupil morphology (HP:0000615)help
..Starting node
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Anisocoria (HP:0009916)help
Term ID: 9916
Name: Anisocoria
Synonym: Asymmetric pupil sizes; Asymmetry of the pupils; Unequal pupil dilatation; Unequal pupil size
Definition: Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.
Comments:
Reference: HP:0009916
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal pupil shape (HP:0025309) help
..expandEctopia pupillae (HP:0009918) help
..expandLeukocoria (HP:0000555) help
..expandMicrocoria (HP:0025492) help
..expandPersistent pupillary membrane (HP:0009917) help
..expandPolycoria (HP:0011500) 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:0009916HP:0009916Anisocoria0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0009916HP:0009916Anisocoria0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0009916HP:0009916Anisocoria0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndromeHP:0040283 - Occasional24
HP:0009916HP:0009916Anisocoria0LOXL1 CL E G H40166665OMIM:177650Exfoliation syndrome.3
HP:0009916HP:0009916Anisocoria0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040283 - Occasional79
HP:0009916HP:0009916Anisocoria0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040283 - Occasional493
HP:0009916HP:0009916Anisocoria0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0009916HP:0009916Anisocoria0TMEM67 CL E G H9114728396OMIM:613550NEPHRONOPHTHISIS 11; NPHP11166


Genes (8) :AAAS DDX6 GMPPA LOXL1 PMP22 SH3TC2 SIN3A TMEM67

Diseases (8) :OMIM:231550 OMIM:618653 OMIM:615510 OMIM:177650 ORPHA:90658 ORPHA:99949 OMIM:613406 OMIM:613550
 

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