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:
Abnormality of higher mental function (HP:0011446)

Parent Node:
Reduced consciousness/confusion (HP:0004372)

..Starting node
..Fluctuations in consciousness (HP:0007159)

Term ID:

7159

Name:

Fluctuations in consciousness

Synonym:

Definition:

Comments:

Reference:

HP:0007159

Genes and Diseases:

Child Nodes:

Sister Nodes:

Coma (HP:0001259)

Confusion (HP:0001289)

Drowsiness (HP:0002329)

Episodic hypersomnia (HP:0007200)

Excessive daytime somnolence (HP:0001262)

Lethargy (HP:0001254)

Loss of consciousness (HP:0007185)

obsolete Excessive daytime sleepiness (HP:0002189)

Vegetative state (HP:0031358)

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:0007159	HP:0007159	Fluctuations in consciousness	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional	62
HP:0007159	HP:0007159	Fluctuations in consciousness	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0007159	HP:0007159	Fluctuations in consciousness	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0007159	HP:0007159	Fluctuations in consciousness	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0007159	HP:0007159	Fluctuations in consciousness	0	GBA1 CL E G H	2629	4177	OMIM:127750	Dementia, lewy body	.
HP:0007159	HP:0007159	Fluctuations in consciousness	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040282 - Frequent	462
HP:0007159	HP:0007159	Fluctuations in consciousness	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0007159	HP:0007159	Fluctuations in consciousness	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0007159	HP:0007159	Fluctuations in consciousness	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0007159	HP:0007159	Fluctuations in consciousness	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0007159	HP:0007159	Fluctuations in consciousness	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	31
HP:0007159	HP:0007159	Fluctuations in consciousness	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0007159	HP:0007159	Fluctuations in consciousness	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	65
HP:0007159	HP:0007159	Fluctuations in consciousness	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	40
HP:0007159	HP:0007159	Fluctuations in consciousness	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent	82
HP:0007159	HP:0007159	Fluctuations in consciousness	0	SNCA CL E G H	6622	11138	OMIM:127750	Dementia, lewy body	.	65
HP:0007159	HP:0007159	Fluctuations in consciousness	0	SNCB CL E G H	6620	11140	OMIM:127750	Dementia, lewy body	.	2
HP:0007159	HP:0007159	Fluctuations in consciousness	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	73
HP:0007159	HP:0007159	Fluctuations in consciousness	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0007159	HP:0007159	Fluctuations in consciousness	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0007159	HP:0007159	Fluctuations in consciousness	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0007159	HP:0007159	Fluctuations in consciousness	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0007159	HP:0007159	Fluctuations in consciousness	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0007159	HP:0007159	Fluctuations in consciousness	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0007159	HP:0007159	Fluctuations in consciousness	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0007159	HP:0007159	Fluctuations in consciousness	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040282 - Frequent	7

Genes (26) :ALAD COX1 COX2 COX3 GBA1 MEN1 ND1 ND4 ND5 ND6 NDUFAF3 NDUFB8 NDUFS2 SCO2 SLC25A13 SNCA SNCB SURF1 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW YY1

Diseases (6) :ORPHA:100924 ORPHA:550 OMIM:127750 ORPHA:97279 ORPHA:70474 ORPHA:247585

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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