Human Phenotype Ontology 
Grandparent Node:
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Abnormality of connective tissue (HP:0003549)help
Parent Node:
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Corneal opacity (HP:0007957)help
Parent Node:
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Scarring (HP:0100699)help
..Starting node
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Corneal scarring (HP:0000559)help
Term ID: 559
Name: Corneal scarring
Synonym:
Definition:
Comments:
Reference: HP:0000559
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAtypical scarring of skin (HP:0000987) help
..expandChorioretinal scar (HP:0007777) help
..expandMacular scar (HP:0200056) 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:0000559HP:0000559Corneal scarring0COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophyHP:0040282 - Frequent129
HP:0000559HP:0000559Corneal scarring0COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.263
HP:0000559HP:0000559Corneal scarring0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0000559HP:0000559Corneal scarring0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI.108
HP:0000559HP:0000559Corneal scarring0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040283 - Occasional250
HP:0000559HP:0000559Corneal scarring0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0000559HP:0000559Corneal scarring0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant.199
HP:0000559HP:0000559Corneal scarring0MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.6
HP:0000559HP:0000559Corneal scarring0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0000559HP:0000559Corneal scarring0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0000559HP:0000559Corneal scarring0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0000559HP:0000559Corneal scarring0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040284 - Very rare97
HP:0000559HP:0000559Corneal scarring0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0000559HP:0000559Corneal scarring0POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0000559HP:0000559Corneal scarring0PRDM12 CL E G H5933513997OMIM:616488Neuropathy, hereditary sensory and autonomic, type VIII.6
HP:0000559HP:0000559Corneal scarring0PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndromeHP:0040282 - Frequent58
HP:0000559HP:0000559Corneal scarring0TGFBI CL E G H704511771OMIM:602082Corneal dystrophy of bowman layer, type II.58
HP:0000559HP:0000559Corneal scarring0TGFBI CL E G H704511771ORPHA:98964Lattice corneal dystrophy type IHP:0040281 - Very frequent58
HP:0000559HP:0000559Corneal scarring0UROS CL E G H739012592OMIM:263700Porphyria, congenital erythropoietic.41
HP:0000559HP:0000559Corneal scarring0ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndromeHP:0040282 - Frequent397


Genes (18) :COL17A1 COL7A1 CREBBP DST EP300 ERCC4 GJB2 MMP1 MPV17 NCAPG2 NGLY1 NTRK1 POLA1 PRDM12 PRDM5 TGFBI UROS ZNF469

Diseases (18) :ORPHA:293381 OMIM:226600 ORPHA:353277 OMIM:614653 ORPHA:353284 OMIM:610965 OMIM:148210 OMIM:256810 OMIM:618460 ORPHA:404454 ORPHA:642 OMIM:256800 OMIM:301220 OMIM:616488 ORPHA:90354 OMIM:602082 ORPHA:98964 OMIM:263700
 

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