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 connective tissue (HP:0003549)

Parent Node:
Abnormal adipose tissue morphology (HP:0009124)

Parent Node:
Increased connective tissue (HP:0009025)

..Starting node
..Increased adipose tissue (HP:0009126)

Term ID:

9126

Name:

Increased adipose tissue

Synonym:

Increased adipose tissue; Increased fat tissue

Definition:

An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell).

Comments:

Reference:

HP:0009126

Genes and Diseases:

Child Nodes:

........

Increased adipose tissue around the neck (HP:0000468)

........

Increased intramuscular fat (HP:0008985)

........

Increased intraabdominal fat (HP:0008993)

........

Increased subcutaneous truncal adipose tissue (HP:0009003)

........

Lipedema (HP:0100695)

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:0009126	HP:0009126	Increased adipose tissue	0	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy		12
HP:0009126	HP:0009126	Increased adipose tissue	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset		11
HP:0009126	HP:0009126	Increased adipose tissue	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	.	7
HP:0009126	HP:0009126	Increased adipose tissue	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy		7
HP:0009126	HP:0009126	Increased adipose tissue	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0009126	HP:0009126	Increased adipose tissue	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0009126	HP:0009126	Increased adipose tissue	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0009126	HP:0009126	Increased adipose tissue	0	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency	HP:0040280 - Obligate	54
HP:0009126	HP:0009126	Increased adipose tissue	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040280 - Obligate	65
HP:0009126	HP:0009126	Increased adipose tissue	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0009126	HP:0009126	Increased adipose tissue	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040280 - Obligate	27
HP:0009126	HP:0009126	Increased adipose tissue	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040283 - Occasional
HP:0009126	HP:0100695	Lipedema	1	CL E G H
HP:0009126	HP:0008993	Increased intraabdominal fat	1	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040281 - Very frequent	12
HP:0009126	HP:0008985	Increased intramuscular fat	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040282 - Frequent	11
HP:0009126	HP:0000468	Increased adipose tissue around the neck	1	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040280 - Obligate	7
HP:0009126	HP:0008993	Increased intraabdominal fat	1	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent	7
HP:0009126	HP:0000468	Increased adipose tissue around the neck	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0009126	HP:0008993	Increased intraabdominal fat	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0009126	HP:0000468	Increased adipose tissue around the neck	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0009126	HP:0008993	Increased intraabdominal fat	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0009126	HP:0008985	Increased intramuscular fat	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0009126	HP:0000468	Increased adipose tissue around the neck	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0009126	HP:0009003	Increased subcutaneous truncal adipose tissue	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138

Genes (10) :AKT2 CHCHD10 INPP5K LIPE LMNA MC4R PCSK1 POLR3A POMC TRNK

Diseases (12) :ORPHA:79085 ORPHA:276435 OMIM:617404 ORPHA:435660 ORPHA:280365 OMIM:151660 OMIM:248370 ORPHA:71529 ORPHA:71528 ORPHA:3455 ORPHA:71526 ORPHA:1349

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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