Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye morphology (HP:0012372)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Abnormal retinal morphology (HP:0000479)help
Parent Node:
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Neoplasm of the eye (HP:0100012)help
..Starting node
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Retinal neoplasm (HP:0012777)help
Term ID: 12777
Name: Retinal neoplasm
Synonym:
Definition: A tumor (abnormal growth of tissue) of the retina.
Comments:
Reference: HP:0012777
Genes and Diseases:
 
       Child Nodes:
........expandRetinoblastoma (HP:0009919) help

 Sister Nodes: 
..expandHamartoma of the eye (HP:0010568) help
..expandOrbital schwannoma (HP:0025604) help
..expandScleral schwannoma (HP:0100011) help
..expandUveal melanoma (HP:0007716) 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:0012777HP:0012777Retinal neoplasm0CHEK2 CL E G H1120016627OMIM:259500Osteosarcoma833
HP:0012777HP:0012777Retinal neoplasm0RB1 CL E G H59259884ORPHA:1587Monosomy 13q14365
HP:0012777HP:0012777Retinal neoplasm0RB1 CL E G H59259884OMIM:259500Osteosarcoma365
HP:0012777HP:0012777Retinal neoplasm0RB1 CL E G H59259884OMIM:180200RETINOBLASTOMA365
HP:0012777HP:0012777Retinal neoplasm0TP53 CL E G H715711998OMIM:259500Osteosarcoma911
HP:0012777HP:0009919Retinoblastoma1CHEK2 CL E G H1120016627OMIM:259500Osteosarcoma.833
HP:0012777HP:0009919Retinoblastoma1RB1 CL E G H59259884ORPHA:1587Monosomy 13q14HP:0040282 - Frequent365
HP:0012777HP:0009919Retinoblastoma1RB1 CL E G H59259884OMIM:259500Osteosarcoma.365
HP:0012777HP:0009919Retinoblastoma1RB1 CL E G H59259884OMIM:180200RETINOBLASTOMA.365
HP:0012777HP:0009919Retinoblastoma1TP53 CL E G H715711998OMIM:259500Osteosarcoma.911


Genes (3) :CHEK2 RB1 TP53

Diseases (3) :OMIM:259500 ORPHA:1587 OMIM:180200
 

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