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
..Loss of consciousness (HP:0007185)

Term ID:

7185

Name:

Loss of consciousness

Synonym:

Loss of consciousness; Passing out

Definition:

Comments:

Reference:

HP:0007185

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)

Fluctuations in consciousness (HP:0007159)

Lethargy (HP:0001254)

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:0007185	HP:0007185	Loss of consciousness	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040283 - Occasional	245
HP:0007185	HP:0007185	Loss of consciousness	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	197
HP:0007185	HP:0007185	Loss of consciousness	0	ADORA2A CL E G H	135	263	ORPHA:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion	HP:0040282 - Frequent	1
HP:0007185	HP:0007185	Loss of consciousness	0	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040282 - Frequent	99
HP:0007185	HP:0007185	Loss of consciousness	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040284 - Very rare
HP:0007185	HP:0007185	Loss of consciousness	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	115
HP:0007185	HP:0007185	Loss of consciousness	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0007185	HP:0007185	Loss of consciousness	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040283 - Occasional	6
HP:0007185	HP:0007185	Loss of consciousness	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040283 - Occasional	161
HP:0007185	HP:0007185	Loss of consciousness	0	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040282 - Frequent	148
HP:0007185	HP:0007185	Loss of consciousness	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040283 - Occasional	127
HP:0007185	HP:0007185	Loss of consciousness	0	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040282 - Frequent	730
HP:0007185	HP:0007185	Loss of consciousness	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent	88
HP:0007185	HP:0007185	Loss of consciousness	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0007185	HP:0007185	Loss of consciousness	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional	36
HP:0007185	HP:0007185	Loss of consciousness	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0007185	HP:0007185	Loss of consciousness	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional	144
HP:0007185	HP:0007185	Loss of consciousness	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0007185	HP:0007185	Loss of consciousness	0	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	HP:0040282 - Frequent	110
HP:0007185	HP:0007185	Loss of consciousness	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare	1
HP:0007185	HP:0007185	Loss of consciousness	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	20
HP:0007185	HP:0007185	Loss of consciousness	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	6
HP:0007185	HP:0007185	Loss of consciousness	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	3
HP:0007185	HP:0007185	Loss of consciousness	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	2
HP:0007185	HP:0007185	Loss of consciousness	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional	15
HP:0007185	HP:0007185	Loss of consciousness	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	5
HP:0007185	HP:0007185	Loss of consciousness	0	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency		44

Genes (27) :ABCC8 ACADM ADORA2A CPT1A CYTB GCDH GK GLYCTK HNF1A KCNE1 KCNJ11 KCNQ1 MTRR NAB2 NAGS NOTCH2NLC NOTCH3 RNU4ATAC SLC19A3 STAT6 TBK1 TICAM1 TLR3 TRAF3 UCP2 UNC93B1 UPB1

Diseases (21) :ORPHA:276575 ORPHA:42 ORPHA:363549 ORPHA:156 ORPHA:137675 ORPHA:25 OMIM:307030 ORPHA:941 ORPHA:324575 ORPHA:90647 ORPHA:276580 ORPHA:2169 ORPHA:2126 ORPHA:927 OMIM:603472 ORPHA:136 OMIM:210710 ORPHA:263410 ORPHA:1930 ORPHA:276556 OMIM:613161

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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