Human Phenotype Ontology 
Grandparent Node:
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Abnormal pupillary function (HP:0007686)help
Parent Node:
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Abnormal pupillary light reflex (HP:0007695)help
..Starting node
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Slow pupillary light response (HP:0030211)help
Term ID: 30211
Name: Slow pupillary light response
Synonym: Sluggish pupillary reaction
Definition: Reduced velocity and acceleration in the pupillary light response.
Comments:
Reference: HP:0030211
Genes and Diseases:
 
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InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030211HP:0030211Slow pupillary light response0CHRNA3 CL E G H11361957OMIM:191800URINARY BLADDER, ATONY OF4
HP:0030211HP:0030211Slow pupillary light response0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0030211HP:0030211Slow pupillary light response0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional90
HP:0030211HP:0030211Slow pupillary light response0GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional160
HP:0030211HP:0030211Slow pupillary light response0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional92
HP:0030211HP:0030211Slow pupillary light response0MPZ CL E G H43597225OMIM:607736Charcot-Marie-Tooth disease, type 2J134
HP:0030211HP:0030211Slow pupillary light response0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040282 - Frequent79
HP:0030211HP:0030211Slow pupillary light response0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040282 - Frequent49
HP:0030211HP:0030211Slow pupillary light response0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional81
HP:0030211HP:0030211Slow pupillary light response0TULP1 CL E G H728712423OMIM:613843Leber congenital amaurosis 15.66


Genes (10) :CHRNA3 COL18A1 COLQ GALC LAMB2 MPZ PMP22 PRPS1 PSAP TULP1

Diseases (8) :OMIM:191800 OMIM:267750 ORPHA:98915 ORPHA:206436 OMIM:607736 ORPHA:90658 ORPHA:423479 OMIM:613843
 

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