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:
Abnormal adipose tissue morphology (HP:0009124)

Grandparent Node:
Increased connective tissue (HP:0009025)

Parent Node:
Abnormality of subcutaneous fat tissue (HP:0001001)

Parent Node:
Increased adipose tissue (HP:0009126)

..Starting node
..Increased subcutaneous truncal adipose tissue (HP:0009003)

Term ID:

9003

Name:

Increased subcutaneous truncal adipose tissue

Synonym:

Increased fat below the skin in trunk

Definition:

The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body.

Comments:

Reference:

HP:0009003

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased adipose tissue around the neck (HP:0000468)

Increased intraabdominal fat (HP:0008993)

Increased intramuscular fat (HP:0008985)

Lipedema (HP:0100695)

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:0009003	HP:0009003	Increased subcutaneous truncal adipose tissue	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138

Genes (1) :POLR3A

Diseases (1) :ORPHA:3455

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