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:
Growth abnormality (HP:0001507)

Parent Node:
Abnormality of body weight (HP:0004323)

..Starting node
..Abnormality of body mass index (HP:0045081)

Term ID:

45081

Name:

Abnormality of body mass index

Synonym:

Abnormal BMI; Abnormal body mass index

Definition:

Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages.

Comments:

Reference:

HP:0045081

Genes and Diseases:

Child Nodes:

........

Increased body mass index (HP:0031418)

........

Decreased body mass index (HP:0045082)

Sister Nodes:

Abnormal waist to hip ratio (HP:0031818)

Decreased body weight (HP:0004325)

Increased body weight (HP:0004324)

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:0045081	HP:0045081	Abnormality of body mass index	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0045081	HP:0045081	Abnormality of body mass index	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0045081	HP:0045081	Abnormality of body mass index	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0045081	HP:0045081	Abnormality of body mass index	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0045081	HP:0045081	Abnormality of body mass index	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia		5
HP:0045081	HP:0045081	Abnormality of body mass index	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0045081	HP:0045081	Abnormality of body mass index	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0045081	HP:0045081	Abnormality of body mass index	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia		11
HP:0045081	HP:0045081	Abnormality of body mass index	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0045081	HP:0045081	Abnormality of body mass index	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0045081	HP:0045081	Abnormality of body mass index	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0045081	HP:0045081	Abnormality of body mass index	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0045081	HP:0045081	Abnormality of body mass index	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease		12
HP:0045081	HP:0045081	Abnormality of body mass index	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0045081	HP:0045081	Abnormality of body mass index	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0045081	HP:0045081	Abnormality of body mass index	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0045081	HP:0045081	Abnormality of body mass index	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0045081	HP:0045081	Abnormality of body mass index	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome		57
HP:0045081	HP:0045081	Abnormality of body mass index	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II		82
HP:0045081	HP:0045081	Abnormality of body mass index	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0045081	HP:0045081	Abnormality of body mass index	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease		1
HP:0045081	HP:0045081	Abnormality of body mass index	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0045081	HP:0045081	Abnormality of body mass index	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0045081	HP:0045081	Abnormality of body mass index	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia		2
HP:0045081	HP:0045081	Abnormality of body mass index	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0045081	HP:0045081	Abnormality of body mass index	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0045081	HP:0045081	Abnormality of body mass index	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0045081	HP:0045081	Abnormality of body mass index	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6		9
HP:0045081	HP:0045082	Decreased body mass index	1	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0045081	HP:0045082	Decreased body mass index	1	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0045081	HP:0045082	Decreased body mass index	1	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0045081	HP:0045082	Decreased body mass index	1	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0045081	HP:0031418	Increased body mass index	1	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional	5
HP:0045081	HP:0045082	Decreased body mass index	1	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0045081	HP:0045082	Decreased body mass index	1	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0045081	HP:0031418	Increased body mass index	1	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional	11
HP:0045081	HP:0045082	Decreased body mass index	1	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0045081	HP:0045082	Decreased body mass index	1	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0045081	HP:0045082	Decreased body mass index	1	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0045081	HP:0045082	Decreased body mass index	1	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0045081	HP:0045082	Decreased body mass index	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional	12
HP:0045081	HP:0045082	Decreased body mass index	1	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0045081	HP:0045082	Decreased body mass index	1	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0045081	HP:0045082	Decreased body mass index	1	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0045081	HP:0045082	Decreased body mass index	1	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0045081	HP:0045082	Decreased body mass index	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040282 - Frequent	57
HP:0045081	HP:0045082	Decreased body mass index	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040281 - Very frequent	82
HP:0045081	HP:0045082	Decreased body mass index	1	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0045081	HP:0045082	Decreased body mass index	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional	1
HP:0045081	HP:0045082	Decreased body mass index	1	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0045081	HP:0045082	Decreased body mass index	1	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0045081	HP:0031418	Increased body mass index	1	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional	2
HP:0045081	HP:0045082	Decreased body mass index	1	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0045081	HP:0045082	Decreased body mass index	1	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0045081	HP:0031418	Increased body mass index	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35	HP:0040284 - Very rare	5
HP:0045081	HP:0031418	Increased body mass index	1	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.	9

Genes (28) :CEACAM3 CEACAM6 CFTR CLCA4 CORIN DCTN4 EDNRA FLT1 GCLC GSTM3 HFE HMOX1 HTT KCNN4 MIF SERPINA1 SLC11A1 SLC16A2 SLC25A13 SLC26A9 SLC2A3 SLC6A14 SLC9A3 STOX1 STX1A TGFB1 THOC2 THRA

Diseases (7) :ORPHA:586 ORPHA:275555 ORPHA:399 ORPHA:59 ORPHA:247585 OMIM:300957 OMIM:614450

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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