Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system morphology (HP:0012639)help
Parent Node:
expand
Abnormal peripheral nervous system morphology (HP:0000759)help
..Starting node
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Decreased size of nerve terminals (HP:0003443)help
Term ID: 3443
Name: Decreased size of nerve terminals
Synonym:
Definition: A reduction in the size of nerve terminals.
Comments:
Reference: HP:0003443
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal anterior horn cell morphology (HP:0006802) help
..expandAbnormal cranial nerve morphology (HP:0001291) help
..expandAbnormal lower motor neuron morphology (HP:0002366) help
..expandAbnormal peripheral myelination (HP:0003130) help
..expandAbnormality of peripheral nerves (HP:0045010) help
..expandDiffuse axonal swelling (HP:0003405) help
..expandEnhanced neurotoxicity of vincristine (HP:0003009) help
..expandHypertrophic nerve changes (HP:0003382) help
..expandMinifascicle formation (HP:0031001) help
..expandNeoplasm of the peripheral nervous system (HP:0100007) help
..expandNeuritis (HP:0031002) help
..expandPeripheral axonal degeneration (HP:0000764) help
..expandPeripheral neuropathy (HP:0009830) 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:0003443HP:0003443Decreased size of nerve terminals0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0003443HP:0003443Decreased size of nerve terminals0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent1
HP:0003443HP:0003443Decreased size of nerve terminals0CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel.74
HP:0003443HP:0003443Decreased size of nerve terminals0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent74
HP:0003443HP:0003443Decreased size of nerve terminals0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent53
HP:0003443HP:0003443Decreased size of nerve terminals0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent88
HP:0003443HP:0003443Decreased size of nerve terminals0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0003443HP:0003443Decreased size of nerve terminals0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent139
HP:0003443HP:0003443Decreased size of nerve terminals0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0003443HP:0003443Decreased size of nerve terminals0COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 5.90
HP:0003443HP:0003443Decreased size of nerve terminals0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent90
HP:0003443HP:0003443Decreased size of nerve terminals0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent91
HP:0003443HP:0003443Decreased size of nerve terminals0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0003443HP:0003443Decreased size of nerve terminals0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent92
HP:0003443HP:0003443Decreased size of nerve terminals0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent124
HP:0003443HP:0003443Decreased size of nerve terminals0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent72
HP:0003443HP:0003443Decreased size of nerve terminals0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent73
HP:0003443HP:0003443Decreased size of nerve terminals0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent263


Genes (15) :AGRN AK9 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ DOK7 GFPT1 LAMB2 LRP4 MUSK RAPSN SCN4A

Diseases (5) :ORPHA:98913 OMIM:601462 OMIM:608931 OMIM:603034 ORPHA:98915
 

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