Human Phenotype Ontology 
Grandparent Node:
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Abnormal anterior eye segment morphology (HP:0004328)help
Parent Node:
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Abnormal cornea morphology (HP:0000481)help
..Starting node
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Decreased corneal reflex (HP:0008000)help
Term ID: 8000
Name: Decreased corneal reflex
Synonym: Decreased blink reflex; Reduced corneal reflex
Definition: An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.
Comments:
Reference: HP:0008000
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal corneal endothelium morphology (HP:0011488) help
..expandAbnormal corneal epithelium morphology (HP:0011495) help
..expandAbnormality of corneal shape (HP:0040004) help
..expandAbnormality of corneal size (HP:0001120) help
..expandAbnormality of corneal stroma (HP:0011492) help
..expandAbnormality of corneal thickness (HP:0011486) help
..expandAbnormality of the corneal limbus (HP:0025348) help
..expandAbnormality of the curvature of the cornea (HP:0100691) help
..expandAbnormality of the line of Schwalbe (HP:0008048) help
..expandCornea verticillata (HP:0500008) help
..expandCorneal degeneration (HP:0007705) help
..expandCorneal dystrophy (HP:0001131) help
..expandCorneal neovascularization (HP:0011496) help
..expandCorneal opacity (HP:0007957) help
..expandCorneal perforation (HP:0100583) help
..expandDecreased corneal sensation (HP:0012155) help
..expandLimbal dermoid (HP:0001140) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0008000HP:0008000Decreased corneal reflex0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM166605959603722
HP:0008000HP:0008000Decreased corneal reflex0KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1431059888601255
HP:0008000HP:0008000Decreased corneal reflex0RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1628925964613114
HP:0008000HP:0008000Decreased corneal reflex0SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1129109210597603415
HP:0008000HP:0008000Decreased corneal reflex0WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM11882014540605232
HP:0008000HP:0008000Decreased corneal reflex0ZFHX2 CL E G H85446147430Indifference to pain, congenital, autosomal dominant147430C1840219OMIM113420152617828
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008000HP:0008000Decreased corneal reflex0LIFR CL E G H39773206ORPHA0323466597151443


Genes (7) :ELP1 KIF1A LIFR RETREG1 SCN9A WNK1 ZFHX2

Diseases (4) :223900 201300 3206 147430
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.