Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormality of temperature regulation (HP:0004370)

..Starting node
..Hypothermia (HP:0002045)

Term ID:

2045

Name:

Hypothermia

Synonym:

Abnormally low body temperature; Hypothermia

Definition:

Reduced body temperature due to failed thermoregulation.

Comments:

Reference:

HP:0002045

Genes and Diseases:

Child Nodes:

........

Intermittent hypothermia (HP:0005964)

Sister Nodes:

Fever (HP:0001945)

Heat intolerance (HP:0002046)

Malignant hyperthermia (HP:0002047)

obsolete Impaired thermal sensitivity (HP:0006901)

Temperature instability (HP:0005968)

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:0002045	HP:0002045	Hypothermia	0	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency	.	111
HP:0002045	HP:0002045	Hypothermia	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	200
HP:0002045	HP:0002045	Hypothermia	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002045	HP:0002045	Hypothermia	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease	.	192
HP:0002045	HP:0002045	Hypothermia	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040283 - Occasional	192
HP:0002045	HP:0002045	Hypothermia	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent	192
HP:0002045	HP:0002045	Hypothermia	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0002045	HP:0002045	Hypothermia	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare	1
HP:0002045	HP:0002045	Hypothermia	0	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0002045	HP:0002045	Hypothermia	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040283 - Occasional	80
HP:0002045	HP:0002045	Hypothermia	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0002045	HP:0002045	Hypothermia	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0002045	HP:0002045	Hypothermia	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.	57
HP:0002045	HP:0002045	Hypothermia	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	121
HP:0002045	HP:0002045	Hypothermia	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040284 - Very rare	121
HP:0002045	HP:0002045	Hypothermia	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	11
HP:0002045	HP:0002045	Hypothermia	0	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78		4
HP:0002045	HP:0002045	Hypothermia	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	21
HP:0002045	HP:0002045	Hypothermia	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare	2
HP:0002045	HP:0002045	Hypothermia	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040284 - Very rare	35
HP:0002045	HP:0002045	Hypothermia	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	130
HP:0002045	HP:0002045	Hypothermia	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	51
HP:0002045	HP:0002045	Hypothermia	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	43
HP:0002045	HP:0002045	Hypothermia	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0002045	HP:0002045	Hypothermia	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0002045	HP:0002045	Hypothermia	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0002045	HP:0002045	Hypothermia	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002045	HP:0002045	Hypothermia	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002045	HP:0002045	Hypothermia	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002045	HP:0002045	Hypothermia	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002045	HP:0002045	Hypothermia	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002045	HP:0002045	Hypothermia	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002045	HP:0002045	Hypothermia	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040284 - Very rare	97
HP:0002045	HP:0002045	Hypothermia	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0002045	HP:0002045	Hypothermia	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.	63
HP:0002045	HP:0002045	Hypothermia	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	36
HP:0002045	HP:0002045	Hypothermia	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	54
HP:0002045	HP:0002045	Hypothermia	0	SCN10A CL E G H	6336	10582	ORPHA:90026	Primary erythromelalgia	HP:0040283 - Occasional	146
HP:0002045	HP:0002045	Hypothermia	0	SCN11A CL E G H	11280	10583	ORPHA:90026	Primary erythromelalgia	HP:0040283 - Occasional	19
HP:0002045	HP:0002045	Hypothermia	0	SCN9A CL E G H	6335	10597	ORPHA:90026	Primary erythromelalgia	HP:0040283 - Occasional	318
HP:0002045	HP:0002045	Hypothermia	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040283 - Occasional	40
HP:0002045	HP:0002045	Hypothermia	0	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency		3
HP:0002045	HP:0002045	Hypothermia	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	59
HP:0002045	HP:0002045	Hypothermia	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional	60
HP:0002045	HP:0002045	Hypothermia	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0002045	HP:0002045	Hypothermia	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040283 - Occasional	13
HP:0002045	HP:0002045	Hypothermia	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	155
HP:0002045	HP:0002045	Hypothermia	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	92
HP:0002045	HP:0002045	Hypothermia	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002045	HP:0002045	Hypothermia	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002045	HP:0002045	Hypothermia	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002045	HP:0002045	Hypothermia	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002045	HP:0002045	Hypothermia	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0002045	HP:0002045	Hypothermia	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040284 - Very rare	97
HP:0002045	HP:0002045	Hypothermia	0	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome		1
HP:0002045	HP:0002045	Hypothermia	0	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome	HP:0040281 - Very frequent	1
HP:0002045	HP:0002045	Hypothermia	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0002045	HP:0005964	Intermittent hypothermia	1	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital	.	80
HP:0002045	HP:0005964	Intermittent hypothermia	1	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency	.	43

Genes (51) :ACADSB ACADVL ATP6 ATP7A BRAT1 BTNL2 COA6 DBH DDC DGUOK DUOX2 DUOXA2 GABRA2 HESX1 HLA-DRB1 HMGCL IYD LHX3 LHX4 LMNB1 MICOS13 MMACHC ND1 ND2 ND3 ND4 ND5 ND6 NTRK1 P4HTM PAX8 POU1F1 PROP1 SCN10A SCN11A SCN9A SLC25A20 SLC52A1 SLC5A5 SUCLG1 TBCK TG TPO TRNK TRNL1 TRNV TRNW TSHB TSHR TSPYL1 UQCRFS1

Diseases (35) :OMIM:610006 ORPHA:26793 ORPHA:255210 OMIM:309400 ORPHA:565 ORPHA:198 OMIM:614498 ORPHA:797 OMIM:616501 ORPHA:230 OMIM:223360 OMIM:608643 OMIM:251880 ORPHA:95716 ORPHA:226316 OMIM:618557 ORPHA:226307 ORPHA:20 ORPHA:99027 OMIM:618329 ORPHA:79282 ORPHA:642 OMIM:618493 OMIM:218700 ORPHA:90026 ORPHA:159 OMIM:615026 ORPHA:17 OMIM:245400 ORPHA:488632 ORPHA:90674 ORPHA:90673 OMIM:608800 ORPHA:168593 OMIM:618775

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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