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 subcutaneous adipose tissue in limbs (HP:0003635)

Term ID:

3635

Name:

Loss of subcutaneous adipose tissue in limbs

Synonym:

Loss of fat tissue below the skin in limbs; Loss of subcutaneous adipose tissue from extremities

Definition:

Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.

Comments:

Reference:

HP:0003635

Genes and Diseases:

Child Nodes:

........

Loss of subcutaneous adipose tissue from upper limbs (HP:0009056)

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 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:0003635	HP:0003635	Loss of subcutaneous adipose tissue in limbs	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0003635	HP:0003635	Loss of subcutaneous adipose tissue in limbs	0	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040280 - Obligate	8
HP:0003635	HP:0003635	Loss of subcutaneous adipose tissue in limbs	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040280 - Obligate	7
HP:0003635	HP:0003635	Loss of subcutaneous adipose tissue in limbs	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0003635	HP:0003635	Loss of subcutaneous adipose tissue in limbs	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040282 - Frequent	645
HP:0003635	HP:0003635	Loss of subcutaneous adipose tissue in limbs	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0003635	HP:0003635	Loss of subcutaneous adipose tissue in limbs	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0003635	HP:0003635	Loss of subcutaneous adipose tissue in limbs	0	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to		11
HP:0003635	HP:0003635	Loss of subcutaneous adipose tissue in limbs	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040281 - Very frequent	19
HP:0003635	HP:0003635	Loss of subcutaneous adipose tissue in limbs	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0003635	HP:0003635	Loss of subcutaneous adipose tissue in limbs	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040281 - Very frequent	42
HP:0003635	HP:0003635	Loss of subcutaneous adipose tissue in limbs	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0003635	HP:0009056	Loss of subcutaneous adipose tissue from upper limbs	1	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.	11

Genes (8) :CAV1 CIDEC LIPE LMNA LMNB2 PLIN1 PPARG ZMPSTE24

Diseases (12) :OMIM:606721 ORPHA:435651 ORPHA:435660 ORPHA:280365 ORPHA:2348 OMIM:151660 OMIM:248370 OMIM:608709 ORPHA:280356 OMIM:604367 ORPHA:79083 OMIM:608612

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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