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 mentation (HP:0001345)

Term ID:

1345

Name:

Psychotic mentation

Synonym:

Definition:

Comments:

Reference:

HP:0001345

Genes and Diseases:

Child Nodes:

Sister Nodes:

Psychotic episodes (HP:0000725)

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:0001345	HP:0001345	Psychotic mentation	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0001345	HP:0001345	Psychotic mentation	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional	74
HP:0001345	HP:0001345	Psychotic mentation	0	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	94
HP:0001345	HP:0001345	Psychotic mentation	0	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	188
HP:0001345	HP:0001345	Psychotic mentation	0	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	225
HP:0001345	HP:0001345	Psychotic mentation	0	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	88
HP:0001345	HP:0001345	Psychotic mentation	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001345	HP:0001345	Psychotic mentation	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001345	HP:0001345	Psychotic mentation	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001345	HP:0001345	Psychotic mentation	0	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	1
HP:0001345	HP:0001345	Psychotic mentation	0	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	172
HP:0001345	HP:0001345	Psychotic mentation	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040283 - Occasional	111
HP:0001345	HP:0001345	Psychotic mentation	0	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	4
HP:0001345	HP:0001345	Psychotic mentation	0	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	434
HP:0001345	HP:0001345	Psychotic mentation	0	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency	.	39
HP:0001345	HP:0001345	Psychotic mentation	0	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	321
HP:0001345	HP:0001345	Psychotic mentation	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040283 - Occasional	183
HP:0001345	HP:0001345	Psychotic mentation	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001345	HP:0001345	Psychotic mentation	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001345	HP:0001345	Psychotic mentation	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001345	HP:0001345	Psychotic mentation	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001345	HP:0001345	Psychotic mentation	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001345	HP:0001345	Psychotic mentation	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001345	HP:0001345	Psychotic mentation	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001345	HP:0001345	Psychotic mentation	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001345	HP:0001345	Psychotic mentation	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001345	HP:0001345	Psychotic mentation	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001345	HP:0001345	Psychotic mentation	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001345	HP:0001345	Psychotic mentation	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7

Genes (29) :AIP ALDH4A1 CABP4 CHRNA2 CHRNA4 CHRNB2 COX1 COX2 COX3 CRH DEPDC5 FIG4 FRRS1L GRIN2A GSS KCNT1 MTHFR ND1 ND4 ND5 ND6 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW USP8

Diseases (8) :OMIM:219090 ORPHA:79101 ORPHA:98784 ORPHA:550 ORPHA:208441 ORPHA:725 OMIM:266130 ORPHA:395

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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