Human Phenotype Ontology 
Grandparent Node:
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Abnormal retinal morphology (HP:0000479)help
Grandparent Node:
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Neoplasm of the eye (HP:0100012)help
Parent Node:
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Embryonal neoplasm (HP:0002898)help
Parent Node:
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Neuroepithelial neoplasm (HP:0030063)help
Parent Node:
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Retinal neoplasm (HP:0012777)help
..Starting node
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Retinoblastoma (HP:0009919)help
Term ID: 9919
Name: Retinoblastoma
Synonym: Retina tumor
Definition: A tumor of the eye originating from cells of the retina.
Comments:
Reference: HP:0009919
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0009919HP:0009919Retinoblastoma0CHEK2 CL E G H11200259500Osteosarcoma259500C0029463OMIM1213258416627604373
HP:0009919HP:0009919Retinoblastoma0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA1111316369884614041
HP:0009919HP:0009919Retinoblastoma0RB1 CL E G H5925259500Osteosarcoma259500C0029463OMIM1111316369884614041
HP:0009919HP:0009919Retinoblastoma0RB1 CL E G H5925180200Retinoblastoma180200C0035335OMIM1111316369884614041
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (2) :CHEK2 RB1

Diseases (3) :259500 1587 180200
 

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