Human Phenotype Ontology 
Grandparent Node:
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Cognitive impairment (HP:0100543)help
Parent Node:
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Memory impairment (HP:0002354)help
..Starting node
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Deficit in phonologic short-term memory (HP:0002549)help
Term ID: 2549
Name: Deficit in phonologic short-term memory
Synonym: Deficit in non-word repetition; Impaired non-word repetition
Definition: Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory
Comments:
Reference: HP:0002549
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandProgressive forgetfulness (HP:0007017) help
..expandTransient global amnesia (HP:0010534) 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:0002549HP:0002549Deficit in phonologic short-term memory0GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040284 - Very rare53
HP:0002549HP:0002549Deficit in phonologic short-term memory0MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndromeHP:0040281 - Very frequent140
HP:0002549HP:0002549Deficit in phonologic short-term memory0PRNP CL E G H56219449ORPHA:280397Familial Alzheimer-like prion diseaseHP:0040281 - Very frequent69
HP:0002549HP:0002549Deficit in phonologic short-term memory0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040283 - Occasional3
HP:0002549HP:0002549Deficit in phonologic short-term memory0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040283 - Occasional125


Genes (5) :GSN MAPT PRNP RNASEH1 RRM2B

Diseases (4) :ORPHA:85448 ORPHA:240112 ORPHA:280397 ORPHA:329336
 

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