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:
Abnormality of facial adipose tissue (HP:0000291)

Parent Node:
Adipose tissue loss (HP:0008887)

..Starting node
..Loss of facial adipose tissue (HP:0000292)

Term ID:

292

Name:

Loss of facial adipose tissue

Synonym:

Decreased amount of facial adipose tissue; Decreased amount of facial fat; Decreased volume of facial adipose tissue; Loss of facial fat; Loss of facial subcutaneous adipose tissue; Loss of subcutaneous adipose tissue from face

Definition:

Loss of normal subcutaneous fat tissue in the face.

Comments:

Reference:

HP:0000292

Genes and Diseases:

Child Nodes:

........

Progressive loss of facial adipose tissue (HP:0009019)

Sister Nodes:

Absence of subcutaneous fat (HP:0007485)

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:0000292	HP:0000292	Loss of facial adipose tissue	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0000292	HP:0000292	Loss of facial adipose tissue	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0000292	HP:0000292	Loss of facial adipose tissue	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0000292	HP:0000292	Loss of facial adipose tissue	0	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to		11
HP:0000292	HP:0000292	Loss of facial adipose tissue	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0000292	HP:0000292	Loss of facial adipose tissue	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42
HP:0000292	HP:0000292	Loss of facial adipose tissue	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0000292	HP:0000292	Loss of facial adipose tissue	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0000292	HP:0009019	Progressive loss of facial adipose tissue	1	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.	11

Genes (8) :ERCC6 ERCC8 KCNJ6 LMNB2 POLR3A PPARG PSMB8 ZMPSTE24

Diseases (8) :OMIM:133540 OMIM:216400 ORPHA:435628 OMIM:608709 ORPHA:3455 ORPHA:79083 OMIM:256040 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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