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:
Behavioral abnormality (HP:0000708)

Parent Node:
Psychosis (HP:0000709)

..Starting node
..Psychotic episodes (HP:0000725)

Term ID:

725

Name:

Psychotic episodes

Synonym:

Psychotic episodes

Definition:

Comments:

Reference:

HP:0000725

Genes and Diseases:

Child Nodes:

........

Transient psychotic episodes (HP:0006932)

Sister Nodes:

Psychotic mentation (HP:0001345)

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:0000725	HP:0000725	Psychotic episodes	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0000725	HP:0000725	Psychotic episodes	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome	.	100
HP:0000725	HP:0000725	Psychotic episodes	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0000725	HP:0000725	Psychotic episodes	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0000725	HP:0000725	Psychotic episodes	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0000725	HP:0000725	Psychotic episodes	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0000725	HP:0000725	Psychotic episodes	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0000725	HP:0000725	Psychotic episodes	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040282 - Frequent	183
HP:0000725	HP:0000725	Psychotic episodes	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040284 - Very rare	36
HP:0000725	HP:0000725	Psychotic episodes	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0000725	HP:0000725	Psychotic episodes	0	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7		23
HP:0000725	HP:0000725	Psychotic episodes	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0000725	HP:0000725	Psychotic episodes	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0000725	HP:0000725	Psychotic episodes	0	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0000725	HP:0000725	Psychotic episodes	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0000725	HP:0000725	Psychotic episodes	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0000725	HP:0000725	Psychotic episodes	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	HP:0040283 - Occasional	104
HP:0000725	HP:0000725	Psychotic episodes	0	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts		6
HP:0000725	HP:0000725	Psychotic episodes	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0000725	HP:0000725	Psychotic episodes	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0000725	HP:0000725	Psychotic episodes	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0000725	HP:0006932	Transient psychotic episodes	1	CL E G H

Genes (21) :ARMC5 ATP13A2 ATRX BRAF CDH23 GNAS HMBS MTHFR NAGS NR3C1 PARK7 PDE11A PDE8B PITRM1 PRKACA PRKAR1A SLC7A7 SNORD118 TP53 USP48 USP8

Diseases (11) :ORPHA:189427 OMIM:606693 ORPHA:96253 OMIM:176000 ORPHA:395 ORPHA:927 OMIM:606324 ORPHA:189439 OMIM:619405 OMIM:222700 ORPHA:542310

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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