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
..Absence of subcutaneous fat (HP:0007485)

Term ID:

7485

Name:

Absence of subcutaneous fat

Synonym:

Absent fat below the skin; General absence of subcutaneous fat; Lack of fatty tissue below the skin

Definition:

Lack of subcutaneous adipose tissue.

Comments:

Reference:

HP:0007485

Genes and Diseases:

Child Nodes:

Sister Nodes:

Loss of facial adipose tissue (HP:0000292)

Loss of gluteal subcutaneous adipose tissue (HP:0009017)

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:0007485	HP:0007485	Absence of subcutaneous fat	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0007485	HP:0007485	Absence of subcutaneous fat	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.	11
HP:0007485	HP:0007485	Absence of subcutaneous fat	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0007485	HP:0007485	Absence of subcutaneous fat	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.	106
HP:0007485	HP:0007485	Absence of subcutaneous fat	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0007485	HP:0007485	Absence of subcutaneous fat	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.	158
HP:0007485	HP:0007485	Absence of subcutaneous fat	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0007485	HP:0007485	Absence of subcutaneous fat	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0007485	HP:0007485	Absence of subcutaneous fat	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0007485	HP:0007485	Absence of subcutaneous fat	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.	3
HP:0007485	HP:0007485	Absence of subcutaneous fat	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent	645
HP:0007485	HP:0007485	Absence of subcutaneous fat	0	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome	.	645
HP:0007485	HP:0007485	Absence of subcutaneous fat	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0007485	HP:0007485	Absence of subcutaneous fat	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0007485	HP:0007485	Absence of subcutaneous fat	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0007485	HP:0007485	Absence of subcutaneous fat	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0007485	HP:0007485	Absence of subcutaneous fat	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0007485	HP:0007485	Absence of subcutaneous fat	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent	83

Genes (16) :CARS1 CAV1 ERCC2 ERCC3 ERCC4 FBN1 GTF2E2 GTF2H5 KCNJ6 LMNA MPLKIP POLR3A PRIM1 RNF113A TARS1 ZMPSTE24

Diseases (10) :ORPHA:33364 OMIM:606721 OMIM:601675 OMIM:610965 OMIM:616914 OMIM:614098 ORPHA:740 OMIM:176670 OMIM:264090 OMIM:620005

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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