Human Phenotype Ontology 
Grandparent Node:
expandFatigable weakness (HP:0003473)help
Parent Node:
expandFatigable weakness of skeletal muscles (HP:0030197)help
..Starting node
..expandFatigable weakness of neck muscles (HP:0030199)help
Term ID: 30199
Name: Fatigable weakness of neck muscles
Synonym:
Definition: A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
Comments:
Reference: HP:0030199
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFatigable weakness of distal limb muscles (HP:0030198) help
..expandFatiguable weakness of proximal limb muscles (HP:0030200) 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:0030199HP:0030199Fatigable weakness of neck muscles0ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiencyHP:0040282 - Frequent197
HP:0030199HP:0030199Fatigable weakness of neck muscles0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0030199HP:0030199Fatigable weakness of neck muscles0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent1
HP:0030199HP:0030199Fatigable weakness of neck muscles0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent74
HP:0030199HP:0030199Fatigable weakness of neck muscles0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent53
HP:0030199HP:0030199Fatigable weakness of neck muscles0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent88
HP:0030199HP:0030199Fatigable weakness of neck muscles0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent139
HP:0030199HP:0030199Fatigable weakness of neck muscles0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0030199HP:0030199Fatigable weakness of neck muscles0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent91
HP:0030199HP:0030199Fatigable weakness of neck muscles0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent124
HP:0030199HP:0030199Fatigable weakness of neck muscles0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent72
HP:0030199HP:0030199Fatigable weakness of neck muscles0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent73
HP:0030199HP:0030199Fatigable weakness of neck muscles0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent263


Genes (13) :ACADM AGRN AK9 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DOK7 LRP4 MUSK RAPSN SCN4A

Diseases (2) :ORPHA:42 ORPHA:98913
 

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