Human Phenotype Ontology 
Grandparent Node:
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Respiratory insufficiency (HP:0002093)help
Grandparent Node:
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Weakness of muscles of respiration (HP:0004347)help
Parent Node:
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Respiratory insufficiency due to muscle weakness (HP:0002747)help
..Starting node
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Intermittent episodes of respiratory insufficiency due to muscle weakness (HP:0004889)help
Term ID: 4889
Name: Intermittent episodes of respiratory insufficiency due to muscle weakness
Synonym:
Definition:
Comments:
Reference: HP:0004889
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:0004889HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent127
HP:0004889HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent65
HP:0004889HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness0CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel.74
HP:0004889HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent6
HP:0004889HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent1269
HP:0004889HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent
HP:0004889HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness0SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent144
HP:0004889HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0004889HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent28
HP:0004889HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent9
HP:0004889HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0004889HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent4
HP:0004889HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness0TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent7128
HP:0004889HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2


Genes (14) :AGRN CHAT CHRNA1 COL13A1 MYH7 MYO9A SELENON SLC18A3 SLC25A1 SLC5A7 SNAP25 SYT2 TTN VAMP1

Diseases (3) :ORPHA:98914 OMIM:601462 ORPHA:324604
 

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