Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal nervous system physiology (HP:0012638)

Parent Node:
Behavioral abnormality (HP:0000708)

Parent Node:
Pseudobulbar signs (HP:0002200)

..Starting node
..Pseudobulbar behavioral symptoms (HP:0002193)

Term ID:

2193

Name:

Pseudobulbar behavioral symptoms

Synonym:

Pseudobulbar behavioural symptoms

Definition:

Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.

Comments:

Reference:

HP:0002193

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pseudobulbar paralysis (HP:0007024)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002193	HP:0002193	Pseudobulbar behavioral symptoms	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0002193	HP:0002193	Pseudobulbar behavioral symptoms	0	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis	HP:0040282 - Frequent	114
HP:0002193	HP:0002193	Pseudobulbar behavioral symptoms	0	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040281 - Very frequent	114
HP:0002193	HP:0002193	Pseudobulbar behavioral symptoms	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.	114
HP:0002193	HP:0002193	Pseudobulbar behavioral symptoms	0	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040281 - Very frequent	18
HP:0002193	HP:0002193	Pseudobulbar behavioral symptoms	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional	1

Genes (3) :ALS2 ERLIN2 PUS3

Diseases (5) :OMIM:205100 ORPHA:293168 ORPHA:247604 OMIM:606353 ORPHA:488627

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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