Human Phenotype Ontology 
Grandparent Node:
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Abnormal testis morphology (HP:0000035)help
Grandparent Node:
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Gonadal neoplasm (HP:0010785)help
Grandparent Node:
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Neoplasm of the male external genitalia (HP:0100848)help
Parent Node:
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Abnormality of the Leydig cells (HP:0010789)help
Parent Node:
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Testicular neoplasm (HP:0010788)help
..Starting node
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Leydig cell neoplasia (HP:0100618)help
Term ID: 100618
Name: Leydig cell neoplasia
Synonym:
Definition: The presence of a neoplasm of the testis with origin in a Leydig cell.
Comments:
Reference: HP:0100618
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandSertoli cell neoplasm (HP:0100619) help
..expandTesticular adrenal rest tumor (HP:0025451) help
..expandTesticular gonadoblastoma (HP:0000030) help
..expandTesticular mesothelioma (HP:0100005) help
..expandTesticular seminoma (HP:0100617) help
..expandTesticular teratoma (HP:0100616) 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:0100618HP:0100618Leydig cell neoplasia0MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare94
HP:0100618HP:0100618Leydig cell neoplasia0MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare26
HP:0100618HP:0100618Leydig cell neoplasia0NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare13
HP:0100618HP:0100618Leydig cell neoplasia0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0100618HP:0100618Leydig cell neoplasia0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0100618HP:0100618Leydig cell neoplasia0STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare45
HP:0100618HP:0100618Leydig cell neoplasia0TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare85


Genes (7) :MC2R MRAP NNT PDE11A PRKAR1A STAR TXNRD2

Diseases (2) :ORPHA:361 ORPHA:1359
 

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