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: ..Abnormal corneal endothelium morphology (HP:0011488) ..Abnormal corneal epithelium morphology (HP:0011495) ..Abnormal corneal limbus morphology (HP:0025348) ..Abnormal corneal stroma morphology (HP:0011492) ..Abnormal line of Schwalbe morphology (HP:0008048) ..Abnormality of corneal shape (HP:0040004) ..Abnormality of corneal size (HP:0001120) ..Abnormality of corneal thickness (HP:0011486) ..Abnormality of the curvature of the cornea (HP:0100691) ..Cornea verticillata (HP:0500008) ..Corneal degeneration (HP:0007705) ..Corneal dystrophy (HP:0001131) ..Corneal neovascularization (HP:0011496) ..Corneal opacity (HP:0007957) ..Corneal perforation (HP:0100583) ..Decreased corneal sensation (HP:0012155) ..Limbal dermoid (HP:0001140) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0008000 HP:0008000 Decreased corneal reflex 0 ALG11 CL E G H 440138 32456 ORPHA:280071 ALG11-CDG HP:0040283 - Occasional 41 HP:0008000 HP:0008000 Decreased corneal reflex 0 CLTCL1 CL E G H 8218 2093 ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0040282 - Frequent 6 HP:0008000 HP:0008000 Decreased corneal reflex 0 ELP1 CL E G H 8518 5959 OMIM:223900 Neuropathy, hereditary sensory and autonomic, type III . 133 HP:0008000 HP:0008000 Decreased corneal reflex 0 KIF1A CL E G H 547 888 OMIM:201300 Neuropathy, hereditary sensory and autonomic, type II . 276 HP:0008000 HP:0008000 Decreased corneal reflex 0 LIFR CL E G H 3977 6597 ORPHA:3206 Stüve-Wiedemann syndrome HP:0040283 - Occasional 144 HP:0008000 HP:0008000 Decreased corneal reflex 0 NTRK1 CL E G H 4914 8031 ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0040283 - Occasional 97 HP:0008000 HP:0008000 Decreased corneal reflex 0 RETREG1 CL E G H 54463 25964 OMIM:201300 Neuropathy, hereditary sensory and autonomic, type II . 54 HP:0008000 HP:0008000 Decreased corneal reflex 0 SCN9A CL E G H 6335 10597 OMIM:201300 Neuropathy, hereditary sensory and autonomic, type II . 318 HP:0008000 HP:0008000 Decreased corneal reflex 0 WNK1 CL E G H 65125 14540 OMIM:201300 Neuropathy, hereditary sensory and autonomic, type II . 199 HP:0008000 HP:0008000 Decreased corneal reflex 0 ZFHX2 CL E G H 85446 20152 OMIM:147430 Marsili syndrome
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
