Human Phenotype Ontology 
Grandparent Node:
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Delayed speech and language development (HP:0000750)help
Parent Node:
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Receptive language delay (HP:0010863)help
..Starting node
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Moderate receptive language delay (HP:0011351)help
Term ID: 11351
Name: Moderate receptive language delay
Synonym:
Definition: A moderate delay in the acquisition of the ability to understand the speech of others.
Comments:
Reference: HP:0011351
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandMild receptive language delay (HP:0011350) help
..expandSevere receptive language delay (HP:0011352) 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:0011351HP:0011351Moderate receptive language delay0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional223
HP:0011351HP:0011351Moderate receptive language delay0KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional99
HP:0011351HP:0011351Moderate receptive language delay0SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0011351HP:0011351Moderate receptive language delay0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040282 - Frequent


Genes (3) :EHMT1 KMT2C SH2B1

Diseases (3) :ORPHA:261652 ORPHA:261222 ORPHA:261197
 

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