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; 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001140HP:0001140Limbal dermoid0AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM112269391164730
HP:0001140HP:0001140Limbal dermoid0FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM12653883688136350
HP:0001140HP:0001140Limbal dermoid0KRAS CL E G H38453339ORPHA1452746407190070
HP:0001140HP:0001140Limbal dermoid0PTEN CL E G H57282969ORPHA165820199588601728
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001140HP:0001140Limbal dermoid0DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA085017748607861
HP:0001140HP:0001140Limbal dermoid0SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA08818210524602218


Genes (6) :AKT1 DACT1 FGFR1 KRAS PTEN SALL1

Diseases (5) :176920 857 613001 3339 2969
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.