Human Phenotype
Ontology
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Grandparent Node: Abnormal pattern of respiration (HP:0002793) | Parent Node: Apnea (HP:0002104) | ..Starting node ..Apneic episodes precipitated by illness, fatigue, stress (HP:0002872)
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Term ID: |
2872 |
Name: |
Apneic episodes precipitated by illness, fatigue, stress |
Synonym: |
Episodic apnea induced by febrile illness or stress |
Definition: |
Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress. |
Comments: |
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Reference: |
HP:0002872 |
Genes and Diseases: | | Child Nodes: | Sister Nodes: | ..Apneic episodes in infancy (HP:0005949)
| ..Central apnea (HP:0002871)
| ..Sleep apnea (HP:0010535)
| ..Sudden episodic apnea (HP:0002882)
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0002872 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | | HP:0002872 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 0 | CHAT CL E G H | 1103 | 1912 | OMIM:254210 | Myasthenic syndrome, congenital, 6, presynaptic | . | | | 65 | | | HP:0002872 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 65 | | | HP:0002872 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | . | | | 139 | | | HP:0002872 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | | HP:0002872 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | | | | HP:0002872 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 0 | PDHA1 CL E G H | 5160 | 8806 | OMIM:312170 | Pyruvate dehydrogenase e1-alpha deficiency | . | | | 88 | | | HP:0002872 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | | HP:0002872 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 28 | | | HP:0002872 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 9 | | | HP:0002872 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | | HP:0002872 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 4 | | | HP:0002872 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
Genes (12) :AGRN CHAT CHRNE COL13A1 MYO9A PDHA1 SLC18A3 SLC25A1 SLC5A7 SNAP25 SYT2 VAMP1
Diseases (4) :ORPHA:98914 OMIM:254210 OMIM:605809 OMIM:312170 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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