Human Phenotype Ontology 
Grandparent Node:
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Abnormality of vision (HP:0000504)help
Parent Node:
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Visual field defect (HP:0001123)help
..Starting node
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Large central visual field defect (HP:0001129)help
Term ID: 1129
Name: Large central visual field defect
Synonym: Large central loss of field of vision
Definition:
Comments:
Reference: HP:0001129
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal visual field test (HP:0030588) help
..expandAltitudinal visual field defect (HP:0030531) help
..expandBlind-spot enlargment (HP:0030644) help
..expandConstriction of peripheral visual field (HP:0001133) help
..expandGlaucomatous visual field defect (HP:0007854) help
..expandHemianopia (HP:0012377) help
..expandProgressive visual field defects (HP:0007987) help
..expandScotoma (HP:0000575) 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:0001129HP:0001129Large central visual field defect0CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophyHP:0040283 - Occasional126
HP:0001129HP:0001129Large central visual field defect0RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophyHP:0040283 - Occasional47
HP:0001129HP:0001129Large central visual field defect0TIMP3 CL E G H707811822ORPHA:59181Sorsby pseudoinflammatory fundus dystrophyHP:0040282 - Frequent95


Genes (3) :CYP4V2 RLBP1 TIMP3

Diseases (3) :ORPHA:41751 ORPHA:85128 ORPHA:59181
 

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