Human Phenotype Ontology 
Grandparent Node:
expandAbnormal nervous system physiology (HP:0012638)help
Parent Node:
expandDysarthria (HP:0001260)help
Parent Node:
expandDysphagia (HP:0002015)help
Parent Node:
expandDysphonia (HP:0001618)help
Parent Node:
expandParalysis (HP:0003470)help
Parent Node:
expandPseudobulbar signs (HP:0002200)help
..Starting node
..expandPseudobulbar paralysis (HP:0007024)help
Term ID: 7024
Name: Pseudobulbar paralysis
Synonym: Pseudobulbar palsy; Pseudobulbar syndrome
Definition: Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.
Comments:
Reference: HP:0007024
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandPseudobulbar behavioral symptoms (HP:0002193) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007024HP:0007024Pseudobulbar paralysis0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0007024HP:0007024Pseudobulbar paralysis0LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0007024HP:0007024Pseudobulbar paralysis0NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM113437883600276
HP:0007024HP:0007024Pseudobulbar paralysis0SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0007024HP:0007024Pseudobulbar paralysis0ZFYVE26 CL E G H23503100996ORPHA1240820761612012
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007024HP:0007024Pseudobulbar paralysis0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM05869722138250
HP:0007024HP:0007024Pseudobulbar paralysis0B4GALNT1 CL E G H2583101006ORPHA02954117601873
HP:0007024HP:0007024Pseudobulbar paralysis0ERLIN2 CL E G H11160209951ORPHA01911356611605
HP:0007024HP:0007024Pseudobulbar paralysis0RARS CL E G H5917438114ORPHA09870107820
HP:0007024HP:0007024Pseudobulbar paralysis0TGM6 CL E G H343641276193ORPHA039316255613900


Genes (10) :ALDH18A1 B4GALNT1 CYP27A1 ERLIN2 LMNB1 NOTCH3 RARS SOD1 TGM6 ZFYVE26

Diseases (10) :616586 101006 213700 209951 169500 125310 438114 105400 276193 100996
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.