Human Phenotype Ontology 
Grandparent Node:
expandAbnormal peripheral action potential amplitude (HP:0030179)help
Parent Node:
expandDecreased amplitude of sensory action potentials (HP:0007078)help
..Starting node
..expandDecreased distal sensory nerve action potential (HP:0007230)help
Term ID: 7230
Name: Decreased distal sensory nerve action potential
Synonym:
Definition: A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies.
Comments:
Reference: HP:0007230
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007230HP:0007230Decreased distal sensory nerve action potential0GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0007230HP:0007230Decreased distal sensory nerve action potential0HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4GHP:0040281 - Very frequent11
HP:0007230HP:0007230Decreased distal sensory nerve action potential0LITAF CL E G H951616841OMIM:601098Charcot-Marie-Tooth disease, demyelinating, type 1C74
HP:0007230HP:0007230Decreased distal sensory nerve action potential0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040282 - Frequent8
HP:0007230HP:0007230Decreased distal sensory nerve action potential0MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE56
HP:0007230HP:0007230Decreased distal sensory nerve action potential0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0007230HP:0007230Decreased distal sensory nerve action potential0RFC1 CL E G H59819969OMIM:614575Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0007230HP:0007230Decreased distal sensory nerve action potential0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0007230HP:0007230Decreased distal sensory nerve action potential0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC.214


Genes (9) :GDAP1 HK1 LITAF MORC2 MPV17 NEFL RFC1 SBF2 TRPV4

Diseases (9) :OMIM:607706 ORPHA:99953 OMIM:601098 ORPHA:466768 OMIM:618400 OMIM:607684 OMIM:614575 ORPHA:99956 OMIM:606071
 

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