Human Phenotype Ontology 
Grandparent Node:
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Neoplasm by histology (HP:0011792)help
Parent Node:
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Sarcoma (HP:0100242)help
..Starting node
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Ewing sarcoma (HP:0012254)help
Term ID: 12254
Name: Ewing sarcoma
Synonym: Ewing's sarcoma
Definition: A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones.
Comments:
Reference: HP:0012254
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChondrosarcoma (HP:0006765) help
..expandOsteosarcoma (HP:0002669) help
..expandRenal sarcoma (HP:0008663) help
..expandSoft tissue sarcoma (HP:0030448) 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:0012254HP:0012254Ewing sarcoma0BRD4 CL E G H2347613575ORPHA:443167NUT midline carcinomaHP:0040282 - Frequent
HP:0012254HP:0012254Ewing sarcoma0EWSR1 CL E G H21303508OMIM:612219Ewing sarcoma.
HP:0012254HP:0012254Ewing sarcoma0NUTM1 CL E G H25664629919ORPHA:443167NUT midline carcinomaHP:0040282 - Frequent
HP:0012254HP:0012254Ewing sarcoma0RB1 CL E G H59259884OMIM:180200RETINOBLASTOMA.365


Genes (4) :BRD4 EWSR1 NUTM1 RB1

Diseases (3) :ORPHA:443167 OMIM:612219 OMIM:180200
 

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