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 gluteal subcutaneous adipose tissue (HP:0009017)

Term ID:

9017

Name:

Loss of gluteal subcutaneous adipose tissue

Synonym:

Loss of fat tissue below the skin in gluts

Definition:

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

Comments:

Reference:

HP:0009017

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absence of subcutaneous fat (HP:0007485)

Loss of facial adipose tissue (HP:0000292)

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

Loss of truncal subcutaneous adipose tissue (HP:0009002)

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:0009017	HP:0009017	Loss of gluteal subcutaneous adipose tissue	0	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent	8
HP:0009017	HP:0009017	Loss of gluteal subcutaneous adipose tissue	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent	7
HP:0009017	HP:0009017	Loss of gluteal subcutaneous adipose tissue	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040281 - Very frequent	19
HP:0009017	HP:0009017	Loss of gluteal subcutaneous adipose tissue	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42

Genes (4) :CIDEC LIPE PLIN1 PPARG

Diseases (4) :ORPHA:435651 ORPHA:435660 ORPHA:280356 OMIM:604367

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