Human Phenotype Ontology

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:
Phenotypic abnormality (HP:0000118)

Parent Node:
Constitutional symptom (HP:0025142)

..Starting node
..Body odor (HP:0500001)

Term ID:

500001

Name:

Body odor

Synonym:

BO; Body odor; Body odour; Bromhidrosis; Bromidrosis; Osmidrosis

Definition:

A perceived unpleasant smell given off by the body.

Comments:

Reference:

HP:0500001

Genes and Diseases:

Child Nodes:

........

Fish odor (HP:0410020)

................... HP:0410022 Vaginal fish odor

........

Musty odor (HP:0410021)

Sister Nodes:

Asthenia (HP:0025406)

Chest tightness (HP:0031352)

Chills (HP:0025143)

Fatigue (HP:0012378)

Hot flashes (HP:0031217)

Impairment of activities of daily living (HP:0031058)

Night sweats (HP:0030166)

Pain (HP:0012531)

Shivering (HP:0025144)

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:0500001	HP:0500001	Body odor	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional	91
HP:0500001	HP:0500001	Body odor	0	DMGDH CL E G H	29958	24475	ORPHA:243343	Dimethylglycine dehydrogenase deficiency		27
HP:0500001	HP:0500001	Body odor	0	DMGDH CL E G H	29958	24475	OMIM:605850	DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD		27
HP:0500001	HP:0500001	Body odor	0	FMO3 CL E G H	2328	3771	ORPHA:468726	Severe primary trimethylaminuria		55
HP:0500001	HP:0500001	Body odor	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome	.	5
HP:0500001	HP:0410021	Musty odor	1	CL E G H
HP:0500001	HP:0410020	Fish odor	1	DMGDH CL E G H	29958	24475	ORPHA:243343	Dimethylglycine dehydrogenase deficiency	HP:0040281 - Very frequent	27
HP:0500001	HP:0410020	Fish odor	1	DMGDH CL E G H	29958	24475	OMIM:605850	DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD		27
HP:0500001	HP:0410020	Fish odor	1	FMO3 CL E G H	2328	3771	ORPHA:468726	Severe primary trimethylaminuria	HP:0040280 - Obligate	55
HP:0500001	HP:0410022	Vaginal fish odor	2	CL E G H

Genes (4) :ACAT1 DMGDH FMO3 GPR101

Diseases (5) :ORPHA:134 ORPHA:243343 OMIM:605850 ORPHA:468726 OMIM:300942

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