Human Phenotype Ontology 
Grandparent Node:
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Abnormal uterus morphology (HP:0031105)help
Grandparent Node:
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Genital neoplasm (HP:0010787)help
Parent Node:
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Uterine neoplasm (HP:0010784)help
..Starting node
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Uterine leiomyoma (HP:0000131)help
Term ID: 131
Name: Uterine leiomyoma
Synonym: Benign uterine leiomyomas; Uterine fibroid
Definition: The presence of a leiomyoma of the uterus.
Comments:
Reference: HP:0000131
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCervix cancer (HP:0030079) help
..expandEndometrial carcinoma (HP:0012114) help
..expandUterine leiomyosarcoma (HP:0002891) 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:0000131HP:0000131Uterine leiomyoma0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040282 - Frequent169
HP:0000131HP:0000131Uterine leiomyoma0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040282 - Frequent169
HP:0000131HP:0000131Uterine leiomyoma0FH CL E G H22713700OMIM:150800Hereditary leiomyomatosis and renal cell cancer.301
HP:0000131HP:0000131Uterine leiomyoma0FH CL E G H22713700ORPHA:523Hereditary leiomyomatosis and renal cell cancerHP:0040283 - Occasional301
HP:0000131HP:0000131Uterine leiomyoma0MSH3 CL E G H44377326OMIM:617100Familial adenomatous polyposis 45
HP:0000131HP:0000131Uterine leiomyoma0MSH3 CL E G H44377326ORPHA:480536MSH3-related attenuated familial adenomatous polyposisHP:0040282 - Frequent5


Genes (3) :CDC73 FH MSH3

Diseases (6) :ORPHA:99880 ORPHA:143 OMIM:150800 ORPHA:523 OMIM:617100 ORPHA:480536
 

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