Human Phenotype Ontology 
Grandparent Node:
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Abnormal cornea morphology (HP:0000481)help
Parent Node:
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Abnormal corneal epithelium morphology (HP:0011495)help
..Starting node
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Corneal ulceration (HP:0012804)help
Term ID: 12804
Name: Corneal ulceration
Synonym: Corneal ulcer; Corneal ulcerations
Definition: Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.
Comments:
Reference: HP:0012804
Genes and Diseases:
 
       Child Nodes:
........expandHerpetiform corneal ulceration (HP:0007812) help

 Sister Nodes: 
..expandCorneal erosion (HP:0200020) help
..expandKeratitis (HP:0000491) 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:0012804HP:0012804Corneal ulceration0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III.133
HP:0012804HP:0012804Corneal ulceration0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare199
HP:0012804HP:0012804Corneal ulceration0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare55
HP:0012804HP:0012804Corneal ulceration0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional17
HP:0012804HP:0012804Corneal ulceration0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional175
HP:0012804HP:0012804Corneal ulceration0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional145
HP:0012804HP:0012804Corneal ulceration0FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndrome.20
HP:0012804HP:0012804Corneal ulceration0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional29
HP:0012804HP:0012804Corneal ulceration0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant.199
HP:0012804HP:0012804Corneal ulceration0GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040282 - Frequent53
HP:0012804HP:0012804Corneal ulceration0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0012804HP:0012804Corneal ulceration0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040284 - Very rare645
HP:0012804HP:0012804Corneal ulceration0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0012804HP:0012804Corneal ulceration0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040284 - Very rare81
HP:0012804HP:0012804Corneal ulceration0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation.32
HP:0012804HP:0012804Corneal ulceration0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040284 - Very rare97
HP:0012804HP:0012804Corneal ulceration0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0012804HP:0012804Corneal ulceration0PRDM12 CL E G H5933513997OMIM:616488Neuropathy, hereditary sensory and autonomic, type VIII.6
HP:0012804HP:0012804Corneal ulceration0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0012804HP:0012804Corneal ulceration0TAT CL E G H689811573OMIM:276600Tyrosine transaminase deficiency43
HP:0012804HP:0012804Corneal ulceration0UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040283 - Occasional31
HP:0012804HP:0012804Corneal ulceration0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional41
HP:0012804HP:0012804Corneal ulceration0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040284 - Very rare83
HP:0012804HP:0007812Herpetiform corneal ulceration1TAT CL E G H689811573OMIM:276600Tyrosine transaminase deficiency.43


Genes (22) :ELP1 ERCC6 ERCC8 FGF10 FGFR2 FGFR3 FOXC2 GATA1 GJB2 GSN KIFBP LMNA MPV17 MTTP NGLY1 NTRK1 PRDM12 RIPK4 TAT UROD UROS ZMPSTE24

Diseases (18) :OMIM:223900 ORPHA:90324 ORPHA:2363 OMIM:153400 ORPHA:79277 OMIM:148210 ORPHA:85448 OMIM:609460 ORPHA:740 OMIM:256810 ORPHA:14 OMIM:615273 ORPHA:642 OMIM:256800 OMIM:616488 OMIM:263650 OMIM:276600 ORPHA:95159
 

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