Human Phenotype Ontology 
Grandparent Node:
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Abnormal anterior eye segment morphology (HP:0004328)help
Parent Node:
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Abnormal cornea morphology (HP:0000481)help
..Starting node
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Corneal neovascularization (HP:0011496)help
Term ID: 11496
Name: Corneal neovascularization
Synonym: Corneal neovascularisation; Corneal pannus; Corneal vascularization; Limbal neovascularization; New blood vessel formation in cornea
Definition: Ingrowth of new blood vessels into the cornea.
Comments:
Reference: HP:0011496
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal corneal endothelium morphology (HP:0011488) help
..expandAbnormal corneal epithelium morphology (HP:0011495) help
..expandAbnormal corneal limbus morphology (HP:0025348) help
..expandAbnormal corneal stroma morphology (HP:0011492) help
..expandAbnormal line of Schwalbe morphology (HP:0008048) help
..expandAbnormality of corneal shape (HP:0040004) help
..expandAbnormality of corneal size (HP:0001120) help
..expandAbnormality of corneal thickness (HP:0011486) help
..expandAbnormality of the curvature of the cornea (HP:0100691) help
..expandCornea verticillata (HP:0500008) help
..expandCorneal degeneration (HP:0007705) help
..expandCorneal dystrophy (HP:0001131) help
..expandCorneal opacity (HP:0007957) help
..expandCorneal perforation (HP:0100583) help
..expandDecreased corneal reflex (HP:0008000) help
..expandDecreased corneal sensation (HP:0012155) help
..expandLimbal dermoid (HP:0001140) 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:0011496HP:0011496Corneal neovascularization0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0011496HP:0011496Corneal neovascularization0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomaliesHP:0040284 - Very rare193
HP:0011496HP:0011496Corneal neovascularization0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0011496HP:0011496Corneal neovascularization0CYP1B1 CL E G H15452597OMIM:617315ANTERIOR SEGMENT DYSGENESIS 6; ASGD6101
HP:0011496HP:0011496Corneal neovascularization0DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0011496HP:0011496Corneal neovascularization0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group DHP:0040283 - Occasional106
HP:0011496HP:0011496Corneal neovascularization0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional17
HP:0011496HP:0011496Corneal neovascularization0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional175
HP:0011496HP:0011496Corneal neovascularization0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional145
HP:0011496HP:0011496Corneal neovascularization0GJB2 CL E G H27064284ORPHA:477KID syndromeHP:0040281 - Very frequent199
HP:0011496HP:0011496Corneal neovascularization0GJB6 CL E G H108044288ORPHA:477KID syndromeHP:0040281 - Very frequent56
HP:0011496HP:0011496Corneal neovascularization0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0011496HP:0011496Corneal neovascularization0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0011496HP:0011496Corneal neovascularization0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0011496HP:0011496Corneal neovascularization0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040284 - Very rare32
HP:0011496HP:0011496Corneal neovascularization0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0011496HP:0011496Corneal neovascularization0NLRP1 CL E G H2286114374OMIM:615225Palmoplantar carcinoma, multiple self-healing.37
HP:0011496HP:0011496Corneal neovascularization0PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0011496HP:0011496Corneal neovascularization0PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitisHP:0040282 - Frequent194
HP:0011496HP:0011496Corneal neovascularization0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0011496HP:0011496Corneal neovascularization0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0011496HP:0011496Corneal neovascularization0SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary.1
HP:0011496HP:0011496Corneal neovascularization0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0011496HP:0011496Corneal neovascularization0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0011496HP:0011496Corneal neovascularization0WT1 CL E G H749012796OMIM:106210Aniridia177


Genes (23) :ARVCF COL4A1 COMT CYP1B1 DDR2 ERCC2 FGF10 FGFR2 FGFR3 GJB2 GJB6 GP1BB HIRA JMJD1C NGLY1 NLRP1 PAX6 RREB1 SEC24C SREBF1 TBX1 UFD1 WT1

Diseases (13) :ORPHA:567 OMIM:175780 OMIM:617315 OMIM:618175 OMIM:278730 ORPHA:2363 ORPHA:477 ORPHA:404454 OMIM:617388 OMIM:615225 OMIM:106210 ORPHA:2334 OMIM:158310
 

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