Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the optic nerve (HP:0000587)help
Parent Node:
expandAbnormal optic disc morphology (HP:0012795)help
..Starting node
..expandIncreased cup-to-disc ratio (HP:0012796)help
Term ID: 12796
Name: Increased cup-to-disc ratio
Synonym: Elevated cup to disc ratio; Increased cup disc ratio
Definition: An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.
Comments:
Reference: HP:0012796
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandOptic atrophy (HP:0000648) help
..expandOptic disc drusen (HP:0012426) help
..expandOptic disc pallor (HP:0000543) help
..expandPapilledema (HP:0001085) help
..expandPseudopapilledema (HP:0000538) 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:0012796HP:0012796Increased cup-to-disc ratio0ASB10 CL E G H13637117185OMIM:603383GLAUCOMA 1, OPEN ANGLE, F; GLC1F54
HP:0012796HP:0012796Increased cup-to-disc ratio0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0012796HP:0012796Increased cup-to-disc ratio0COL18A1 CL E G H807812195OMIM:618880GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC177
HP:0012796HP:0012796Increased cup-to-disc ratio0CYP1B1 CL E G H15452597ORPHA:98977Juvenile glaucomaHP:0040283 - Occasional101
HP:0012796HP:0012796Increased cup-to-disc ratio0EFEMP1 CL E G H22023218ORPHA:98977Juvenile glaucomaHP:0040283 - Occasional54
HP:0012796HP:0012796Increased cup-to-disc ratio0MYOC CL E G H46537610ORPHA:98977Juvenile glaucomaHP:0040283 - Occasional47
HP:0012796HP:0012796Increased cup-to-disc ratio0TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeHP:0040283 - Occasional2
HP:0012796HP:0031973Increased vertical cup-to-disc ratio1 CL E G H
HP:0012796HP:0031975Increased vertical cup-to-disc ratio - 0.72 CL E G H
HP:0012796HP:0031974Increased vertical cup-to-disc ratio - 0.62 CL E G H
HP:0012796HP:0031978Increased vertical cup-to-disc ratio - 1.02 CL E G H
HP:0012796HP:0031977Increased vertical cup-to-disc ratio - 0.92 CL E G H
HP:0012796HP:0031976Increased vertical cup-to-disc ratio - 0.82 CL E G H


Genes (7) :ASB10 CDH11 COL18A1 CYP1B1 EFEMP1 MYOC TRAPPC12

Diseases (5) :OMIM:603383 OMIM:211380 OMIM:618880 ORPHA:98977 ORPHA:500144
 

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