Human Phenotype Ontology 
Grandparent Node:
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Abnormal corneal stroma morphology (HP:0011492)help
Grandparent Node:
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Corneal opacity (HP:0007957)help
Parent Node:
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Opacification of the corneal stroma (HP:0007759)help
..Starting node
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Peripheral opacification of the cornea (HP:0008011)help
Term ID: 8011
Name: Peripheral opacification of the cornea
Synonym: Peripheral corneal opacity
Definition: Reduced transparency of the peripheral region of the cornea.
Comments:
Reference: HP:0008011
Genes and Diseases:
 
       Child Nodes:
........expandCorneal arcus (HP:0001084) help

 Sister Nodes: 
..expandCentral opacification of the cornea (HP:0011493) help
..expandCorneal crystals (HP:0000531) help
..expandGeneralized opacification of the cornea (HP:0011494) help
..expandPunctate opacification of the cornea (HP:0007856) 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:0008011HP:0008011Peripheral opacification of the cornea0ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 176
HP:0008011HP:0008011Peripheral opacification of the cornea0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA89
HP:0008011HP:0008011Peripheral opacification of the cornea0APOA1 CL E G H335600OMIM:618463HYPOALPHALIPOPROTEINEMIA, PRIMARY, 240
HP:0008011HP:0008011Peripheral opacification of the cornea0APOA2 CL E G H336601OMIM:143890Hypercholesterolemia, familial, 19
HP:0008011HP:0008011Peripheral opacification of the cornea0APOB CL E G H338603OMIM:144010Hypercholesterolemia, familial, 2356
HP:0008011HP:0008011Peripheral opacification of the cornea0APOE CL E G H348613ORPHA:412Dysbetalipoproteinemia39
HP:0008011HP:0008011Peripheral opacification of the cornea0CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEA9
HP:0008011HP:0008011Peripheral opacification of the cornea0EPHX2 CL E G H20533402OMIM:143890Hypercholesterolemia, familial, 11
HP:0008011HP:0008011Peripheral opacification of the cornea0GHR CL E G H26904263OMIM:143890Hypercholesterolemia, familial, 198
HP:0008011HP:0008011Peripheral opacification of the cornea0KERA CL E G H110816309OMIM:217300Cornea plana 28
HP:0008011HP:0008011Peripheral opacification of the cornea0LDLR CL E G H39496547OMIM:143890Hypercholesterolemia, familial, 12157
HP:0008011HP:0008011Peripheral opacification of the cornea0LIPC CL E G H39906619OMIM:614025HEPATIC LIPASE DEFICIENCY35
HP:0008011HP:0008011Peripheral opacification of the cornea0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy.64
HP:0008011HP:0008011Peripheral opacification of the cornea0PCSK9 CL E G H25573820001OMIM:603776HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3178
HP:0008011HP:0008011Peripheral opacification of the cornea0PPP1R17 CL E G H1084216973OMIM:143890Hypercholesterolemia, familial, 12
HP:0008011HP:0008011Peripheral opacification of the cornea0SLC29A3 CL E G H5531523096ORPHA:168569H syndrome68
HP:0008011HP:0008011Peripheral opacification of the cornea0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0008011HP:0001084Corneal arcus1ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 176
HP:0008011HP:0001084Corneal arcus1ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0008011HP:0001084Corneal arcus1APOA1 CL E G H335600OMIM:618463HYPOALPHALIPOPROTEINEMIA, PRIMARY, 240
HP:0008011HP:0001084Corneal arcus1APOA2 CL E G H336601OMIM:143890Hypercholesterolemia, familial, 1.9
HP:0008011HP:0001084Corneal arcus1APOB CL E G H338603OMIM:144010Hypercholesterolemia, familial, 2.356
HP:0008011HP:0001084Corneal arcus1APOE CL E G H348613ORPHA:412DysbetalipoproteinemiaHP:0040282 - Frequent39
HP:0008011HP:0001084Corneal arcus1CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEA9
HP:0008011HP:0001084Corneal arcus1EPHX2 CL E G H20533402OMIM:143890Hypercholesterolemia, familial, 1.1
HP:0008011HP:0001084Corneal arcus1GHR CL E G H26904263OMIM:143890Hypercholesterolemia, familial, 1.98
HP:0008011HP:0001084Corneal arcus1KERA CL E G H110816309OMIM:217300Cornea plana 2.8
HP:0008011HP:0001084Corneal arcus1LDLR CL E G H39496547OMIM:143890Hypercholesterolemia, familial, 1.2157
HP:0008011HP:0001084Corneal arcus1LIPC CL E G H39906619OMIM:614025HEPATIC LIPASE DEFICIENCY35
HP:0008011HP:0001084Corneal arcus1PCSK9 CL E G H25573820001OMIM:603776HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3178
HP:0008011HP:0001084Corneal arcus1PPP1R17 CL E G H1084216973OMIM:143890Hypercholesterolemia, familial, 1.2
HP:0008011HP:0001084Corneal arcus1SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040283 - Occasional68
HP:0008011HP:0001084Corneal arcus1SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68


Genes (16) :ABCG8 ALDH18A1 APOA1 APOA2 APOB APOE CHRDL1 EPHX2 GHR KERA LDLR LIPC MMP2 PCSK9 PPP1R17 SLC29A3

Diseases (13) :OMIM:210250 OMIM:219150 OMIM:618463 OMIM:143890 OMIM:144010 ORPHA:412 OMIM:309300 OMIM:217300 OMIM:614025 OMIM:259600 OMIM:603776 ORPHA:168569 OMIM:602782
 

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