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:
Decreased adipose tissue (HP:0040063)

Parent Node:
Adipose tissue loss (HP:0008887)

..Starting node
..Loss of truncal subcutaneous adipose tissue (HP:0009002)

Term ID:

9002

Name:

Loss of truncal subcutaneous adipose tissue

Synonym:

Loss of fat tissue in trunk; Loss of subcutaneous truncal adipose tissue; Loss of truncal adipose tissue

Definition:

Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.

Comments:

Reference:

HP:0009002

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absence of subcutaneous fat (HP:0007485)

Loss of facial adipose tissue (HP:0000292)

Loss of gluteal subcutaneous adipose tissue (HP:0009017)

Loss of subcutaneous adipose tissue in limbs (HP:0003635)

obsolete Lack of subcutaneous fatty tissue (HP:0007519)

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:0009002	HP:0009002	Loss of truncal subcutaneous adipose tissue	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0009002	HP:0009002	Loss of truncal subcutaneous adipose tissue	0	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.	11
HP:0009002	HP:0009002	Loss of truncal subcutaneous adipose tissue	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83

Genes (3) :LMNA LMNB2 ZMPSTE24

Diseases (3) :OMIM:151660 OMIM:608709 OMIM:608612

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