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 temperature regulation (HP:0004370)

Parent Node:
Hypothermia (HP:0002045)

..Starting node
..Intermittent hypothermia (HP:0005964)

Term ID:

5964

Name:

Intermittent hypothermia

Synonym:

Intermittent abnormally low body temperature; Intermittent hypothermia

Definition:

Episodes of reduced body termperature.

Comments:

Reference:

HP:0005964

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0005964	HP:0005964	Intermittent hypothermia	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital	.	80
HP:0005964	HP:0005964	Intermittent hypothermia	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency	.	43

Genes (2) :DBH DDC

Diseases (2) :OMIM:223360 OMIM:608643

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.