Human Phenotype Ontology 
Grandparent Node:
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Abnormality of facial musculature (HP:0000301)help
Parent Node:
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Cranial nerve compression (HP:0001293)help
Parent Node:
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Paralysis (HP:0003470)help
Parent Node:
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Weakness of facial musculature (HP:0030319)help
..Starting node
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Facial paralysis (HP:0007209)help
Term ID: 7209
Name: Facial paralysis
Synonym: Facial paralysis; Facial paresis
Definition: Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).
Comments:
Reference: HP:0007209
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFacial palsy (HP:0010628) help
..expandWeakness of orbicularis oculi muscle (HP:0012507) 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:0007209HP:0007209Facial paralysis0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional239
HP:0007209HP:0007209Facial paralysis0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional449
HP:0007209HP:0007209Facial paralysis0CLCN7 CL E G H11862025OMIM:166600Osteopetrosis, autosomal dominant 2.102
HP:0007209HP:0007209Facial paralysis0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0007209HP:0007209Facial paralysis0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0007209HP:0007209Facial paralysis0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0007209HP:0007209Facial paralysis0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional94
HP:0007209HP:0007209Facial paralysis0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional1053
HP:0007209HP:0007209Facial paralysis0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0007209HP:0007209Facial paralysis0TCIRG1 CL E G H1031211647OMIM:259700Osteopetrosis, autosomal recessive 1.82
HP:0007209HP:0007209Facial paralysis0TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 2.44


Genes (11) :ATP1A2 CACNA1A CLCN7 COL4A1 MTRFR NFU1 PRRT2 SCN1A SH3TC2 TCIRG1 TNFSF11

Diseases (8) :ORPHA:569 OMIM:166600 OMIM:175780 OMIM:613559 OMIM:605711 ORPHA:99949 OMIM:259700 OMIM:259710
 

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