Human Phenotype Ontology 
Grandparent Node:
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obsolete Abnormal globe morphology (HP:0012374)help
Parent Node:
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Abnormal conjunctiva morphology (HP:0000502)help
Parent Node:
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Abnormal cornea morphology (HP:0000481)help
Parent Node:
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Abnormal sclera morphology (HP:0000591)help
..Starting node
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Limbal dermoid (HP:0001140)help
Term ID: 1140
Name: Limbal dermoid
Synonym: Benign eye tumor; Benign eye tumour; Epibulbar dermoid; Epibulbar dermoids
Definition: A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).
Comments:
Reference: HP:0001140
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBlue sclerae (HP:0000592) help
..expandDeep episcleral hyperemia (HP:0025340) help
..expandEpiscleritis (HP:0100534) help
..expandOcular melanocytosis (HP:0025534) help
..expandPigmentation of the sclera (HP:0007832) help
..expandScleral rupture (HP:0025513) help
..expandScleral schwannoma (HP:0100011) help
..expandScleral staphyloma (HP:0030854) help
..expandScleral thickening (HP:0030823) help
..expandScleritis (HP:0100532) help
..expandSuperficial episcleral hyperemia (HP:0025339) 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:0001140HP:0001140Limbal dermoid0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0001140HP:0001140Limbal dermoid0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0001140HP:0001140Limbal dermoid0FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis.172
HP:0001140HP:0001140Limbal dermoid0KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome.196
HP:0001140HP:0001140Limbal dermoid0KRAS CL E G H38456407ORPHA:3339Toriello-Lacassie-Droste syndromeHP:0040281 - Very frequent196
HP:0001140HP:0001140Limbal dermoid0PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040281 - Very frequent948
HP:0001140HP:0001140Limbal dermoid0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional124
HP:0001140HP:0001140Limbal dermoid0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2


Genes (7) :AKT1 DACT1 FGFR1 KRAS PTEN SALL1 SF3B2

Diseases (7) :OMIM:176920 ORPHA:857 OMIM:613001 OMIM:600268 ORPHA:3339 ORPHA:2969 OMIM:164210
 

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